Information on Down syndrome

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Did you know that … • Babies and children with Down syndrome behave very much like other babies and children. • Babies and children with Down syndrome progress through the same mile stones and sequence of development like other babies and children, they just do this at a slower rate. • Babies and children with Down syndrome do lots of things that other babies and children do, they sometimes do them a little later. • Babies and children with Down syndrome are actively involved in successful education programs. These include early intervention programs, local playgroups, childcare centres, regular kindergarten, regular school and special school programs. • All children with Down syndrome can be educated. Most learn to read and write, and are therefore able to lead more fulfilling and independent lives. • Many young people with Down syndrome attend colleges. • Open employment is now a reality for people with Down syndrome thanks to the support and encouragement of both large corporations and small business. • Most young adults and adults with Down syndrome can live and work independently with some support from the community. • Some people with Down syndrome have married. • Down syndrome does not exclude people from participating in a wide range of leisure and social activities such as athletics, swimming, basketball, gymnasium, fishing, bike riding, dancing, art and craft, water skiing, cricket, netball, cooking, using computers, travel, playing instruments, going to movies, ................. • People with Down syndrome have the same physical and emotional needs as everyone else. • People with Down syndrome know that they are different. Aren’t we all? It’s really O.K. to be different. We all need to know and feel this. • People with Down syndrome need to recognize their own worth and have that worth recognized by others, just like everyone else. • People with Down syndrome need to develop their own self-confidence and self esteem, like everyone else. • Each person with Down syndrome is unique, with his/her own personality, talents, abilities, thoughts and interests. The range of achievements in all areas also varies with each individual, just like everyone else. • Generally people with a disability are the same as everyone else. • Around one in every 1000 babies born will have Down’s syndrome. • Although the chance of a baby having Down’s syndrome is higher for older mothers, more babies with Down’s syndrome are born to younger women. • Down’s syndrome is caused by the presence of an extra chromosome in a baby’s cells. It occurs by chance at conception and is irreversible. • Down’s syndrome is not a disease. People with Down’s syndrome are not ill and do not ?suffer? from the condition. • All people with the syndrome will have a varying degree of learning difficulty. However, the majority of people with Down's syndrome will walk and talk and many will read and write, go to ordinary schools and lead fulfilling, semi-independent lives. • Today, with the right support, people with Down's syndrome can enjoy a life of sixty years plus

http://www.denison.edu/collaborations/dsq/health96.html Reprinted from Down Syndrome Quarterly, Volume 1, Number 2, June, 1996] HEALTH CARE GUIDELINES FOR INDIVIDUALS WITH DOWN SYNDROME (Down Syndrome Preventive Medical Check List) Edited by William I. Cohen, M.D. for the Down Syndrome Medical Interest Group (DSMIG)* Individuals with Down syndrome (DS) need the usual health care screening procedures provided to everyone. For example, children with DS need the usual immunizations and well child care procedures as recommended by the American Academy of Pediatrics.** [Immunization practices are continually evolving: be certain to use the most up-to-date protocols.] Similarly, adults with DS should have health evaluations using the standard accepted practices. However, children with DS have an increased risk of having certain congenital anomalies. Both children and adults may develop certain medical problems which occur in much higher frequency in individuals with DS. Described below is a check list of additional tests and evaluations recommended for children and adults with DS. These recommendations should take into consideration available local expertise and referral patterns. They are based on our present level of knowledge and should be modified as new information becomes available. Modern primary health care includes educational and developmental concerns within its domain, and therefore we have included information and recommendations specific to these needs of individuals with DS. These recommendations are a thoughtful composite of the input of many experts involved in the care of people with DS. They reflect current standards and practices of health care in the United States of America. They have been designed for a wide audience: for health care professionals who are providing primary care, such as pediatricians, family physicians, internists, and geneticists, as well as specialists, nursing personnel and other allied health professionals, such as physical and occupational therapists, speech-language pathologists, and audiologists. In addition to educators and early intervention providers, these guidelines are designed for parents and other caregivers to use with the professionals who participate in the care of the individual with DS. Certain recommendations are clearly supported by current scientific knowledge. This is the case for the recommendations to detect the presence of congenital heart disease, which occurs in some 50% of infants with DS. In other cases, the recommendations represent our educated guesses. Recognizing the increased frequency of thyroid dysfunction in children with DS, we continue to recommend yearly screening for hypothyroidism. However, we are uncertain as the appropriate periodicity and nature of the screening: how often, and what constitutes an adequate screening. Consequently, members of the DSMIG will be embarking on a prospective study of thyroid function screening to better be able to answer this question. Be certain to use the specific DS growth charts in addition to regular charts to record height and weight (for children from birth to 18 years of age), and head circumference (for children birth to 36 months of age). If a child is below the third percentile, or if falling off the expected percentiles, consider congenital heart disease, endocrine disorders (thyroid or pituitary), or nutritional factors. Immediately following the recommendations by age, you will find explanations for the specific medical recommendations listed below, descriptive information about other areas of interest to individuals interested in the needs of individuals with Down syndrome, and an updated bibliography. These "Health Care Guidelines" continue the series begun in 1981, by Dr. Mary Coleman, and published in Down Syndrome Papers and Abstracts for Professionals (DSPAP), the predecessor of Down Syndrome Quarterly. The previous version was prepared in June, 1992, by the members of the Ohio/Western PA Down Syndrome Network and published in DSPAP (1992, 15(3), 1-9) and was based on the 1989 version prepared by Dr. Nancy Roizen, University of Chicago. The preparation of this revision has been a cooperative effort. As editor, I have been particularly fortunate to have the expertise of the several members of Down Syndrome Medical Interest Group (DSMIG).*** With this edition, we have changed the title of the document to reflect its broader scope. No longer a list of screening procedures, this document has evolved over the last several versions into a comprehensive summary of current recommendations for medical, as well as developmental, social, and family needs for individuals with Down syndrome. This is one of many such compilations. Please see the References, Section C, for a selected list of other protocols. A NOTE ABOUT FLOW CHARTS: These "Health Care Guidelines" were prepared with the goal of providing both depth and breadth to the topic of health promotion for individuals with Down syndrome. We trust that this will serve as a reference for families, educators, agencies, and, of course, health care providers. Nevertheless, we recognize the ease and simplicity of using a summary of these guidelines in a one-page graphic format. Such a summary can be placed in the front of a family's medical record book, and likewise, in the front of a medical chart for rapid consultation. Several members of DSMIG have developed such forms. In 1989, Dr. Allen Crocker prepared a "Healthwatch for Persons with Down Syndrome", which is reprinted in Dr. W. Carl Cooley's chapter in Medical and Surgical Care for Children with Down Syndrome (D.C. Van Dyke et al. (Eds). Currently Dr. Cooley (Dartmouth-Hitchcock Medical Center) and Dr. Golder Wilson (University of Texas Southwestern Medical Center at Dallas) are preparing a compilation of similar preventive checklists for a variety of genetic disorders. They have prepared two one-page summaries for children with Down syndrome. Please contact Dr. Wilson at 214-648-8996 to obtain copies of this material or for more information. Dr. Brian Chicoine has prepared a variety of material for providing health care to adults with Down syndrome. These include history questionnaires, review of systems checklists, physical examination forms and an assessment/plan form which includes screening information. You can contact him at the Adult Down Syndrome Clinic at Lutheran General Hospital, Park Ridge, IL at (847) 318-2878 if you wish to obtain this material. NEONATAL (BIRTH TO TWO MONTHS) History: Review parental concerns. Was there a prenatal diagnosis of DS? With vomiting or absence of stools, check for gastrointestinal tract blockage (duodenal web or atresia or Hirschsprung's disease). Review feeding history to ensure adequate caloric intake; Are there any concerns about hearing or vision? Inquire about family support. Exam: Pay special attention to cardiac examination, cataracts (refer immediately to an ophthalmologist if the red reflex is not seen), otitis media, subjective assessment of hearing, and fontanelles (widely open posterior fontanelle may signify hypothyroidism). Lab and Consults: Chromosomal karyotype; genetic counselling; thyroid function test (TSH and T+subscript 4); check on results of state mandated screening; evaluation by a pediatric cardiologist including echocardiogram (even in the absence of a murmur); reinforce the need for subacute bacterial endocarditis (SBE) prophylaxis in susceptible children with cardiac disease; refer for auditory brainstem response (ABR) test or other objective assessment of hearing to assess hearing by 6 months of age, if not performed at birth. Refer to vision/ophthalmological evaluation by six to twelve months of age for screening purposes. Refer immediately if there are any indications of nystagmus, strabismus or poor vision. If feeding difficulties are noted, consultation with feeding specialist (occupational therapist or lactation nurse) is advised. Developmental: Discuss Early Intervention and refer for enrollment in local program. Parents at this stage often ask for predictions of their child's abilities: "Can you tell how severe it is?" This is an opportunity to discuss the unfolding nature of their child's development, the importance of developmental programming, and our expectation of being better able to answer that question closer to two years of age. Recommendations: Referral to local DS parent group for family support, as indicated. INFANCY (2- 12 MONTHS) History: Review parental concerns. Respiratory infections (especially otitis media); for constipation, use aggressive dietary management and consider Hirschsprung's disease if resistant to dietary changes and stool softeners. Parental concerns regarding vision and hearing. Exam: General neurological, neuromotor, and musculoskeletal examination; must visualize tympanic membranes or refer to ear, nose and throat (ENT) specialist, especially if suspicious of otitis media. Lab and Consults: Evaluation by a pediatric cardiologist including echocardiogram (if not done in newborn period): it must be remembered to consider progressive pulmonary hypertension in DS patients with a VSD or atrioventricular septal defect who are having little or no symptoms of heart failure in this age group; auditory brainstem response test (ABR) or other objective assessment of hearing by 6 months of age if not performed previously or if previous results are suspicious; pediatric ophthalmology evaluation by six to twelve months of age (earlier if nystagmus, strabismus or indications of poor vision are present); thyroid function test (TSH and T+subscript 4), if not performed previously; evaluation by ENT specialist for recurrent otitis media. Developmental: Discuss early intervention and refer for enrollment in local program (if not done during the neonatal period). This usually includes physical and occupational therapy evaluations and a developmental assessment. Recommendations: Application for Supplemental Security Income (SSI) (depending on family income); consider estate planning and custody arrangements; continue family support; continue SBE prophylaxis for children with cardiac defects. CHILDHOOD (1 YEAR TO 12 YEARS) History: Review parental concerns; current level of functioning; review current programming (early intervention, preschool, school); ear problems; sleep problems (snoring or restless sleep may indicate obstructive sleep apnea); constipation; review audiologic and thyroid function tests; review ophthalmologic and dental care. Monitor for behavior problems. Exam: General pediatric and neurological exam. Include a brief vulvar exam for girls. Lab and Consults: Echocardiogram by a pediatric cardiologist if not done previously; Thyroid function test (TSH and T+subscript 4) yearly; auditory testing (yearly for children 1-3 yrs old, every two years for children 3-13 yrs old). Continue regular eye exams every two years if normal, or more frequently as indicated. At 3 years and 12 years of age, lateral cervical spine x-rays (neutral view, flexion and extension) to rule out atlanto-axial instability: have radiologist measure the atlanto-dens distance. X-rays should be performed at an institution accustomed to taking and reading these x-rays. Initial dental evaluation at two years of age with follow-ups every six months. Developmental: Enrollment in appropriate developmental or educational program; complete educational assessment yearly, as part of Individualized Family Service Plan (IFSP) for children from birth to 3 years of age, or Individualized Educational Plan (IEP more visit http://theglp.info/resources/sec-504iep) from age four until the end of formal schooling. Evaluation by a speech and language pathologist is strongly recommended to maximize language development and verbal communication. An individual with significant communication deficits may be a candidate for an augmentive communication device. Recommendations: Twice daily teeth brushing. Total caloric intake should be below recommended daily allowance (RDA) for children of similar height and age. Monitor for well balanced, high fiber diet. Regular exercise and recreational programs should be established early. Continue speech therapy and physical therapy as needed. Continue SBE prophylaxis for children with cardiac defects. Monitor the family's need for respite care, supportive counselling and behavior management techniques. Reinforce the importance of good self-care skills (grooming, dressing, money handling skills). ADOLESCENCE (12 TO 18 YEARS) History: Review interval medical history, questioning specifically about the possibility of obstructive airway disease and sleep apnea; check sensory functioning (vision and hearing); assess for behavioral problems; address sexuality issues. Exam: General physical and neurological examination (with reference to atlanto-axial dislocation). Monitor for obesity by plotting height for weight. Pelvic exam if sexually active, only. (See Consults, below). Lab and consults: Thyroid function testing (TSH and T+subscript 4) yearly. Hearing and vision evaluations every other year. Repeat cervical spine x-rays at 12 yrs and 18 yrs in the asymptomatic individual. Echocardiogram for individuals without congenital heart disease once in early adulthood (18 - 20 years) to evaluate for valvular disease. Consult with Adolescent Medicine practitioner or a gynecologist experienced in working with individuals with special needs to address issues of sexuality and/or for pelvic examination for sexually active teenager. Developmental: Repeat psychoeducational evaluations every year as part of Individualized Educational Plan (IEP). Monitor independent functioning. Continue speech/language therapy as needed. Health and sex education, including counselling regarding abuse prevention. Smoking, drug, and alcohol education. Recommendations: Begin functional transition planning (age 16). Twice yearly dental exams. Consider enrollment for SSI depending on family income. SBE prophylaxis needed for individuals with cardiac disease. Continue dietary and exercise recommendations (see childhood, above). Update estate planning and custody arrangements. Encourage social and recreational programs with friends. Register for voting and selective service at age 18. Discuss plans for alternative long term living arrangements such as community living arrangements (CLA). Reinforce the importance of good self-care skills (grooming, dressing, money handling skills). ADULTS (OVER 18 YEARS) History: Interval medical history. Ask about sleep apnea symptoms. Monitor for loss of independence in living skills, behavioral changes and/or mental health problems. Symptoms of dementia (decline in function,memory loss, ataxia, seizures and incontinence of urine and/or stool). Exam: General physical and neurological examination (with reference to atlanto-axial dislocation). Monitor for obesity by plotting height for weight. Sexually active women will need Pap smears every 1-3 years following the age of first intercourse. For women who are not sexually active, single-finger bimanual examination with finger-directed cytology exam. Screening pelvic ultrasound every 2-3 years for women who refuse or have inadequate follow-up bimanual examinations. This may require referral to an Adolescent Medicine practitioner or a gynecologist with experience with individuals with special needs. Otherwise, pelvic ultrasound may be considered in place of pelvic examinations. Breast exam yearly by physician. Lab and consults: Annual thyroid screening (TSH and T+subscript 4). Ophthalmologic evaluation every two years (looking especially for keratoconus and cataracts). Continue auditory testing every two years. Repeat cervical spine x-rays once in adulthood in asymptomatic individual. Echocardiogram for individuals without congenital heart disease once in early adulthood (18 - 20 years) to evaluate for valvular disease. There are two different suggestions for mammography: Dr. Heaton recommends yearly study after age 50; begin at age 40 for women with a first-degree relative with breast cancer. Dr. Chicoine suggests a mammogram every other year beginning at 40, and yearly beginning at 50. Continue twice yearly dental visits. Mental health referral for individuals with emotional and behavioral changes. Developmental: Continue speech and language therapy, as indicated. For individuals with poor expressive language skills, consider referral for augmentive communication device. Discuss plans for further programming/vocational opportunities at age 21 or when formal schooling ends. Be aware that accelerated aging may affect functional abilities of adults with DS, more so than Alzheimer disease. Recommendations: Discuss plans for alternative long term living arrangements such as community living arrangements (CLA). SBE prophylaxis needed for individuals with cardiac disease. Continue dietary and exercise recommendations (see childhood, above). Update estate planning and custody arrangements. Encourage social and recreational programs with friends. Register for voting and selective service at age 18. Reinforce the importance of good self-care skills (grooming, dressing, money handling skills). Bereavement counselling for individuals who have experienced the loss of an important person in their life, either via death or by other circumstances (e.g., sibling moves away after marriage or goes off to college). The following is an elaboration of the recommendations made above, as well as other information designed to promote optimal health care for individuals with Down syndrome: Cardiac: Congenital heart disease is reported to occur in 30 - 60% of children with DS. Ventricular septal defects and complete atrioventricular septal defects are among the most common. A serious cardiac defect may be present in the absence of a murmur because of the increased tendency of children with DS to develop early increases in pulmonary vascular resistance which reduces the left to right intracardiac shunt, minimizes the heart murmur, and prevents symptoms of heart failure and respiratory problems. Children with DS with a significant cardiac defect who seem to be doing clinically well or getting better, especially during the first 8 months of life, may be developing serious pulmonary vascular changes. Timely surgery, frequently during the first 6 months of life, may be necessary to prevent serious complications. Therefore, all infants and children need to have an evaluation by a pediatric cardiologist, preferably before three months of age, which should include an echocardiogram. In some tertiary care centers, an echocardiogram alone is satisfactory when it will be evaluated by a pediatric cardiologist. If this is not available, a full evaluation by a pediatric cardiologist is mandatory. For the older child, who has never had a cardiac evaluation and who has no signs of cardiac disease, a screening echocardiogram is recommended. Adolescents and young adults with no known intracardiac disease can develop valve dysfunction and should be screened at age 18, especially prior to dental or surgical procedures. [See References, Section G, Geggel RL, et al.] ENT/Audiology: Hearing loss is a significant area of concern for individuals with DS. Infants and children may have a sensorineural loss, a conductive loss (related to middle ear effusions) or both. All infants with DS should have an objective measure of hearing performed within the first 6 months of life. The most common method in wide-spread use is the measurement of auditory brainstem responses (ABR), also know as brainstem auditory evoked response (BAER). Two screening methods include ABR screening in the newborn nursery, and evoked oto-acoustic emission testing. The typical behavioral audiology requires a developmental age of 7-8 months. Consequently, all children with DS need an objective measure when tested in the first 12 months. Subsequently, behavioral audiology may be appropriate. Audiological evaluation for screening purposes should be performed on a yearly basis until three years of age and every other year thereafter. Most children with DS have very small ear canals, making it difficult to examine them properly with the instruments found in the pediatrician's office. Consequently, it may be necessary to refer the child to an Ear, Nose, and Throat physician to visualize the tympanic membranes using the microscopic otoscope. An ENT physician should evaluate all children with an abnormal hearing evaluation and/or tympanogram in order to aggressively manage treatable causes of hearing loss (using antibiotics and/or tympanostomy tubes as indicated). Fluid can accumulate as early as the neonatal period, and aggressive otologic care can minimize the effect of any hearing loss on language development. Individuals with Down syndrome may begin to develop hearing loss in their second decade, which, if undetected may lead to behavioral symptoms which could be misinterpreted as a psychiatric disorder. ENT: Obstructive airway disease has been recognized as a significant problem for children and adults with DS. Symptoms include snoring, unusual sleeping positions (sitting up or bending forward at the waist with head on knees), fatiguability during the day, reappearance of napping in older children or behavior change. Individuals with these symptoms should be evaluated completely via detailed history (looking specifically for evidence of sleep apnea), physical examination with regard to tonsillar size, and prompt referral to an ENT physician for further evaluation (eg. assessment of adenoidal size). In a number of children, hypotonicity and collapse of the airway leads to similar symptoms in the absence of obstruction caused by lymphoid tissue. Surgical intervention may be necessary to avoid hypoxemia and possible cor pulmonale. Sinusitis, manifested by purulent nasal discharge, occurs commonly and deserves aggressive management. Infectious Disease/Immunology: Persons with DS who have serious recurrent respiratory and systemic infections are often evaluated for immune function. Consider measuring the IgG subclasses in such individuals. Total IgG level may not disclose any abnormality, although their may be a deficiency of IgG subclasses 2 and 4 and an increase of IgG subclasses 1 and 3. There is a significant correlation between the decreased IgG subclass 4 levels and bacterial infections. The mechanism is not known but theories include the possibility that this subclass plays a role in pulmonary host defense or possibly a deficiency of selenium. Intravenous gamma globulin replacement therapy should be a consideration in a person with DS who presents with serious recurrent bacterial infections and documented IgG subclass 4 deficiency. The cellular immunity deficits described in individuals with DS have the greatest documented clinical impact on gingivitis and periodontal disease. Children with chronic cardiac and respiratory disease are candidates for use of pneumococcal and influenza vaccines. Eye/Vision: Congenital cataracts are a serious problem for infants with DS, leading to vision loss if not detected and treated. The absence of a red reflex is sufficient cause for immediate referral to a pediatric ophthalmologist, as are strabismus and nystagmus. Routine evaluations should begin at 6-12 months of age, and be performed every 1-2 years thereafter. Refractive errors are common and will be detected during these evaluations, as would serious, but rarer, conditions, such as keratoconus. Stenotic nasolacrimal ducts may lead to tearing in infancy. Blepharitis and conjunctivitis occur frequently. Atlantoaxial Instability (AAI): Atlantoaxial instability is a term used to describe increased mobility of the cervical spine at the level of the first and second vertebrae. This condition isfound in approximately 14% of individuals with Down syndrome. The majority of individuals with atlantoaxial instability are asymptomatic, but approximately 10% of these individuals with AAI (representing 1% of individuals with Down syndrome) have symptoms, which occur when the spinal cord is compressed by the excessive mobility of the two vertebrae which form the atlantoaxial joint. Symptoms of spinal cord compression may include neck pain, unusual posturing of the head and neck (torticollis), change in gait, loss of upper body strength, abnormal neurological reflexes, and change in bowel/bladder functioning. Routine radiographic screening for atlantoaxial instability of individuals with Down syndrome is controversial. In a recent review, the American Academy of Pediatrics Committee on Sports Medicine and Fitness concluded that screening radiographs are of "potential but unproven value" in detecting individuals at risk from sports injury. Close clinical scrutiny and further study of this issue was recommended. However, these studies continue to be required for participation in Special Olympics and community programs in horseback riding, gymnastics, etc. Currently, DSMIG recommends screening individuals with lateral cervical radiographs in the neutral, flexed, and extended positions. The space between the posterior segment of the anterior arch of C1 and the anterior segment of the odontoid process of C2 should be measured. Measurements of less than 5 mm are normal; 5 to 7 mm indicates instability, and greater than 7 mm is grossly abnormal. The cervical canal width should also be measured. The interpretation of these studies should be performed by a radiologist experienced in this area. Individuals with Down syndrome who have not been screened may need to be evaluated prior to surgical procedures, especially those involving manipulation of the neck. These children should be managed cautiously by anesthesiology staff. Since joint instability may change over time, individuals with normal evaluation should have periodic reevaluation as per the guidelines: 12 years, 18 years, and once in adulthood. Those with an abnormal screen should be re-evaluated in one year. Children with borderline findings or abnormal films should be evaluated with a careful neurological examination to rule out spinal cord compression. Neuro-imaging (CT Scan or MRI) is probably indicated. Significant changes in a child's neurological status would necessitate evaluation and possible treatment (i.e, spinal fusion). Asymptomatic children with instability (5to 7 mm) should be managed conservatively, with restriction only in those activities which pose a risk for cervical spine injury. Contact sports, such as football, wrestling, rugby, boxing, and recreational activities such as trampolining, gymnastics (tumbling), and diving, which require significant flexion of the neck would best be avoided. It is unnecessary to restrict all activities. Physical/Occupational Therapy: Since infants with DS may have difficulty with feeding from birth, keep in mind that many centers have professionals (such as occupational therapists, speech pathologists, feeding nurse specialists, etc) who can provide expertise in this area. Some centers involve the occupational therapist or feeding specialist on a routine basis, while others assess the child's oral-motor function and refer as needed. In general, physical and occupational therapy services are included in most early intervention programs for infants, where positioning, feeding, and motor strengthening exercises are some of the services available. Endocrine: The incidence of thyroid disease is significantly increased among individuals with DS of all ages. Normal thyroid hormone levels are necessary for growth and cognitive functioning. The signs of hypothyroidism may be subtle in individuals with DS and may be attributed to the DS itself. Therefore, screening is recommended on a yearly basis by monitoring TSH and T+subscript 4 levels. Since autoimmune conditions are common in individuals with DS, evaluation of suspected hypothyroidism in the school age child should include thyroid antibodies to look for thyroiditis. Some infants and young children have a condition known as idiopathic hyperthyrotropinemia, with borderline abnormal TSH with normal T+subscript 4. This may reflect a neuroregulatory defect of TSH, which, when studied by 24 hour sampling, varies between normal levels and very high levels. Therefore, some centers recommend repeating the TSH and T+subscript 4 every six months, withholding treatment unless the T+subscript 4 is low. There has been some discussion about the use of human growth hormone in children with DS in response to a report that suggested that children with DS have an abnormality of growth hormone secretion. This issue has been addressed by members of the Down Syndrome Medical Interest Group, and published in Down Syndrome Quarterly, Vol 1, Number 1 (March, 1996), where the following is stated: "On the basis of the available evidence, and until the recommended scientific studies are completed, the uncontrolled use of hormonal treatments such as growth hormone in children with Down syndrome is not supported by the Down Syndrome Medical Interest Group." (p. 8). Genetics: A medical genetics consultation should be encouraged, in order to explain the genetic basis and risk of recurrence of DS. Such consultation may be considered optional for children with Trisomy 21. However, in cases of translocation, the parents should be evaluated to determine whether one of them is a balanced carrier of the translocation, thereby increasing the likelihood that a subsequent children may have Down syndrome. This service should also be made available to individuals with DS, when appropriate. Developmental, including Speech and Language: Early intervention programs (for infants 0-3 years old) are designed to comprehensively monitor and enrich development, focusing on feeding, gross and fine motor development, language, and personal/social development. Individuals with DS frequently understand spoken language better than they can express themselves verbally. Consequently, infants and children may be taught language using a total communication approach, which includes signing as well as spoken language. Signing permits these children to communicate more effectively at a time when their expressive language abilities may preclude the development of intelligible speech. Speech and language services should be considered throughout life, to maximize intelligibility. Additionally, some individuals may benefit from the use of augmentive (computer-based) communication devices. Gynecology: Sexually active women should have a cytologic screening (Pap smear) every 1-3 years, starting at the age of first intercourse. Those women who are not sexually active should have a single-finger "bimanual" examination with a finger directed cytologic screening every 1-3 years. Screening transabdominal pelvic ultrasound every 2 to 3 years for women who have a baseline bimanual examination but refuse to have or have inadequate follow-up bimanual examinations of adnexa and uterus. Yearly mammograms for women over 50 years of age. Begin yearly mammograms at age 40 for women with a first-degree relative with breast cancer. [Adapted from Heaton CJ, "Providing reproductive health services to persons with Down syndrome and other mental retardation." See References, Section Q, for full reference.) Neurodevelopmental Issues: The frequency of seizure disorders in persons with Down syndrome is greater than that seen in the general population, but lower than in persons with mental retardation due to other etiologies. Recent studies report an incidence of 5-10%. There appears to be a relationship between age and seizure prevalence in Down syndrome, with the peaks occurring in infancy and again in the fourth or fifth decade. There also appears to be a smaller peak in adolescence. Infantile spasms are the most common type of seizures seen in infancy and usually are well controlled with either steroids or other anticonvulsants. They generally have a favorable cognitive outcome, compared with the general population. Tonic-clonic seizures are most commonly seen in older persons with Down syndrome, and they respond well to anticonvulsant therapy in most cases. The increased incidence of seizures is not thought to be solely the result of abnormal brain development, but can be related to cardiac defects, infections, and irregularities of one or more neurotransmitters. Attention Deficit Hyperactivity Disorder (ADHD) occurs in individuals with Down syndrome in the same frequency as it does in the general population of individuals with mental retardation. In both cases, this is more frequent than in the general population. In general, children with Down syndrome respond well to stimulant therapy. There is no research to indicate that children with Down syndrome respond any differently to stimulant medication than children with other etiologies of mental retardation, who respond, in general, very well. Autistic disorders appear to be more prevalent in children and adults with Down syndrome. Note that this is the case with individuals with mental retardation of other etiologies. Psychiatric Disorders: Changes in behavior and decline in intellectual and functional capabilities usually leads the caregivers of persons with Down syndrome to consider the possibility of a psychiatric disorder. After excluding any medical reason(s) for the behavior, the individual should be evaluated by a clinician who is skilled in assessing individuals with mental retardation and psychiatric disorders. There are potential limitations in diagnosing psychiatric disorders in persons with Down syndrome. Individuals with moderate or severe mental retardation generally are unable to accurately describe their thoughts and perceptions. Persons with mild mental retardation, however, may be able to accurately respond to questions about feelings, perceptions, and thoughts. This section will focus on affective disorders, adjustment disorders, dementia (including Alzheimer disease), anxiety disorders, compulsive behavior. Attention Deficit Hyperactivity Disorder (ADHD) and autistic disorders are discussed in the preceding section. The presenting symptoms may include one of more of the following: "decreased self-care, loss of skills in activities of daily living, loss of verbal skills, loss of social skills, loss of job skills, withdrawal, slow down in activity level, paranoid features, increase in talking to themselves, aggressive behavior, self-abuse, change in sleep patterns, weight change, and/or persistent forgetfulness." [See Chicoine B, et al. p 103, in section B (Adult Health) of References] The major differential diagnosis is between depressive disorder and Alzheimer disease (dementia). Dementia is a neuro-psychiatric syndrome of memory loss that prevents new information form being learned and is characterized by a decline of intellectual skills which impairs social and/or occupational functioning. Alzheimer disease is a neurological disorder which is a progressive form of dementia which has certain characteristic changes in the structure of the brain. It results in a total inability to care for oneself, and, eventually, in death. A careful history must be elicited from caregivers to look for evidence of potentially reversible conditions, such as depression. The signs of depression in typical individuals usually consists of a sad, irritable mood, along with disturbances of appetite, sleep, and energy, and loss of interest in previously enjoyable activities. Persons with Down syndrome are more likely to present with skill and memory losses, significant activity slowdowns, and hallucinatory-like self talk and more extreme withdrawal (psychotic features). Persons with Down syndrome often develop depressive disorders in reaction to loss: death of a family member, change in a roommate, retirement of a caregiver from a group home, etc. In general, the presentation of most psychiatric disorders tends to be more extreme, making the diagnosis more difficult. For example, an anxiety disorder may be manifested by self-injurious behavior or hyperactivity. Adjustment disorders to stressors may likewise include more severe or dramatic symptoms, such as self injury, reversal of sleep patterns, and anorexia. Schizophrenia and psychotic disorders occur very infrequently in persons with Down syndrome in spite of the widespread use of anti-psychotic medication. Self-talk is common and usually developmentally appropriate, given the cognitive levels of these individuals. Although obsessions are rare, compulsive behaviors occur quite commonly. Treatment is available for most of these disorders, with the exception of Alzheimer disease. This treatment may consist of pharmacologic agents, psychotherapy, and/or behavior therapies. It is important to stress that treatment should be under the direction of an individual who is skilled in addressing psychiatric disorders in individuals with mental retardation. Unconventional and Controversial ("Alternative") Therapies: Over the years, a number of controversial treatments of therapies have been proposed for persons with Down syndrome. Sometimes, such modalities are referred to as "alternative" therapies, meaning that they are outside of the mainstream of traditional medicine. Often the claims made in support of such treatments are similar: that the treatment will result in improved intellectual function, alter physical or facial appearance, decrease infections and generally improve the well-being of the child with Down syndrome. Nutritional supplements including vitamins, minerals, amino acids, enzymes and hormones in various combinations represent one form of therapy. There are a number of well-controlled scientific studies that have failed to show any benefit from megadoses of vitamins and minerals. Supplemental zinc and/or selenium may have an effect on immune function or susceptibility to infection, but studies thus far have been inconclusive. Sicca cell treatment (also called cell therapy) consists of injections of freeze-dried fetal animal cells, and has not been shown to be of any benefit. It also has potential side effects of allergic reactions and the risk of the transmission of slow virus infections. There has been much interest generated in 1995 in the use of a Piracetam, a drug that is classified as a cerebral stimulant or nootropic. It has been tried in adults with Alzheimer disease without any benefit. It was shown to improve the reading abilities of typical boys with dyslexia. Piracetam is not approved by the Federal Drug Administration for use in the United States and there have been no scientific studies published reporting its use in children with Down syndrome. DSMIG has expressed concerns about its use in young children in the absence of studies demonstrating its safety. We are currently seeking to devise methods of discovering what value this drug may have. Further information in this area will be published in the "News from DSMIG" section of each issue of Down Syndrome Quarterly. Facilitated communication is a technique whereby a person known as a "facilitator" assists a person by providing support to the hand or arm to enable them to communicate using some type of communication keyboard. Although there are claims of usefulness for persons with many types of disabilities, a number of carefully designed studies have not established this as a valid treatment. Some parents choose to include chiropractic care in the spectrum of interventions for their children with Down syndrome. The scope of the chiropractic services offered to children includes musculoskeletal manipulations, recommendations for supplemental vitamins, and agents purported to improve immunologic function. The range of conditions claimed to be amenable to chiropractic treatment is broad and includes constipation, gastroesophageal reflux, and ear infections. Individuals with Down syndrome have ligamentous laxity and therefore may be at increased risk of injury from cervical-spinal manipulation. Parents should be very cautious when considering such treatment, especially if it is promoted in lieu of immunizations, antibiotics for infections or hormone replacement for endocrine deficiency. The treatments mentioned in this section are only a few of the approaches that have been tried or claimed to pose some benefit to children with Down syndrome. So far, there are no alternative medical therapies that have been scientifically documented to result in a significant improvement in the development and health of children with Down syndrome. Recently, members of DSMIG have received many anecdotal reports of significant and satisfying changes in a wide variety of functional areas (eg. muscle tone, sleep, general health, etc.) following the institution of the use of nutritional supplements. We are carefully evaluating these reports in order to be able to formulate a thoughtful plan to address the questions voiced by the parents of children and adults with Down syndrome about the value of these supplements. Selected References A. Overview Barclay, Andrew (Ed). (1995). Caring for Individuals with Down Syndrome and their Families, Report of the Third Ross Roundtable on Critical Issues in Family Medicine, Columbus, Ohio: Ross Products Division, Abbott Laboratories. Giesinger, C. Annotated bibliography of journal articles on Down syndrome for parents and primary caregivers (For the Canadian Down Syndrome Society). Calgary, AB: CDSS, no date. [Telephone 403-270-8500] Cooley, W.C., & Graham, J.M. (1991). Down syndrome--an update and review for the primary care physician. Clinical Pediatrics, 30(4), 233-253. Denholm, C.J. (Ed.) (1991). Adolescents with Down syndrome: international perspectives on research and program development. Victoria, BC: University of Victoria. Lott, I.T., & McCoy, E.E. (1992). Down syndrome: advances in medical care. New York: Wiley-Liss. Pueschel, S.M. (1992). The child with Down syndrome. In M.D. Levin, W.B. Carey, and A.C. Crocker, Developmental-behavioral Pediatrics, 2nd ed. Philadelphia: WB Saunders. Pueschel, S.M, & Pueschel, J.K. (1992). Biomedical concerns in persons with Down syndrome. Baltimore: Paul Brookes. Rogers, P.T., & Coleman M. (1992). Medical care in Down syndrome. New York: Marcel Dekker. Van Dyke, D.C. (1989). Medical problems in infants and young children with Down syndrome: implications for early services. Inf Young Children, 1(3), 39-50. < Adult> Chicoine, B., McGuire,D., Hebein, S., & Gilly, D. (1994). Development of a clinic for adults with Down syndrome. Mental Retardation, 32(2), 100-106. C. Other Checklists and Protocols American Academy of Pediatrics Committee on Genetics, "Health Guidelines for Children with Down Syndrome," (1994). Pediatrics, 93, 855-859. Chicoine, B., McGuire, D., Hebein, S., & Gilly, D. (1994). Development of a clinic for adults with Down syndrome. Mental Retardation, 32(2), 100-106. Pueschel, S.M., Anneren, G., Durlach, R., Flores, J., Sustrova, M., & Verma, I.C. (1995). Guidelines for optimal medical care of person with Down Syndrome. International League of Societies for Persons with Mental Handicap (ILSMH). Acta Paediatrica, 84(7), 823-827. D. Specifically for Families Kumin. L. (1994). Communication skills for children with Down syndrome: a guide for parents. Bethesda, MD: Woodbine House. Van Dyke, D.C., Mattheis, P., Eberly, S.S., & Williams, J. (Eds.) (1995). Medical and surgical care for children with Down syndrome: a guide for parents. Bethesda: Woodbine House. E. Anesthesia DeLeon, S.Y., Ilbawi, M.N., Egel, R.T., et al. (1991). Perioperative spinal canal narrowing in patients with Down's syndrome. Ann Thorac Surg, 52(6), 1325-1328. Kobel, M., Creighton, R.E., & Steward, D.J. (1982). Anaesthetic considerations in Down's syndrome: Experience with 100 patients and a review of the literature. Can Anaesth Soc J, 29, 593-599. Williams, J.P., Somerville, G.M., Miner, M.E., et al. (1987). Atlanto-axial subluxation and trisomy 21: another perioperative complication. Anesthesiology, 67, 253-254. F. Audiology Balkany, T.J., Downs, M.P., Jafek, B.W., et al. (1979). Hearing loss in Down's syndrome. Clinical Pediatrics 18(2), 116-118. Buchanan, L.H. (1990). Early onset of presbyacusis in Down syndrome. Scand Audiology, 12(2), 103-110. Dahle, A.J., & McCollister, F.P. (1988). Hearing and otologic disorders in children with Down syndrome. Journal of Mental Deficiency Research, 32, 333-336. Diefendorf, A.O., Bull, M.J., Casey-Harvey, D., Miyamoto, R.T., Pope, M.L., Renshaw, J.J., Schreiner, R.L., & Wagner-Escobar, M. (1995). Down syndrome: a multidisciplinary perspective. Journal of the American Academy of Audiology, 6(1), 39-46. Evenhuis et al. (1992). Hearing loss in middle-age persons with Down syndrome. American Journal on Mental Retardation, 97(1), 47-56. Glass, R.B., Yousefzadeh, D.K., & Roizen, N.J. (1989). Mastoid abnormalities in Down syndrome. Pediatric Radiology, 19(5), 311-312. Roizen, N.J., Wolters, C., Nicol, T., & Blondis, T. (1992). Hearing loss in children with Down syndrome. Pediatrics,123, 9-12. G. Cardiology Baciewicz, Jr., F.A., Melvin, W.S., Basilius, D., & Davis, J.T. (1989). Congenital heart disease in Down's syndrome patients: a decade of surgical experience. Thorac & Cardiovasc Surgeon, 37(6), 369-371. Clapp, S.K., Perry, B.L., Farooki, Z.Q., et al. (1987). Surgical and medical results of complete atrioventricular canal surgery: a ten year review. American Journal of Cardiology, 59, 454-458. Geggel, R.L., et al. (1993). Clinical and laboratory observations: Development of valve dysfunction in adolescents and young adults with Down syndrome and no known congenital heart disease. Journal of Pediatrics, 122(5), 821-823. Goldhaber, S.Z., Brown, W.D., & St. John Sutton, M.G. (1987). High frequency of mitral valve prolapse and aortic regurgitation among asymptomatic adults with Down's syndrome. Journal of the American Medical Association, 258, 1793-1795. Marino, B., & Pueschel, S.M. (1996). Heart disease in persons with Down syndrome. Baltimore: Paul Brookes. Martin, G.R., Rosenbaum, K.N., & Sardegna, K.M. (1989). Prevalence of heart disease in trisomy 21: an unbiased population (Abstract). Pediatric Research, 25, 255A. Morris, et al. (1992). Down syndrome affects results of surgical corrections of complete atrioventricular canal. Pediatric Cardiology, 13(2), 80-84. Pueschel, S.M., & Werner, J.C. (1994). Mitral valve prolapse in persons with Down syndrome. Research in Developmental Disabilities, 15(2), 91-97. Rizzioli et al. (1992). Does Down syndrome affect the results of surgically managed atrioventricular canal defects. Journal of Thoracic and Cardiovascular Surgery, 104, 945-953. Rosenberg, H.C., Jung, J.H., Soltan, H.C., Li, M.D., & Sheridan G. (1994). Cardiac screening of children with Down's syndrome. Canadian Journal of Cardiology, 10(6), 675-677. H. Communication Chapman, et al. (1991). Language skills of children and adolescents with Down syndrome: I. Comprehension. Journal of Speech and Hearing Research, 34, 1106-1120. Cooper, S.A., & Collacott, R.A. (1995). The effect of age on language in people with Down's syndrome. Journal of Intellectual Disability Research, 39(Part 3):197-200. Gibbs, E.D., Springer, A.S., Cooley, W.C., et al. (1990). Total communication for children with Down syndrome (Abstract). Paper presented at annual convention of American Speech-Language-Hearing Association. Kumin, L. A. (1986). Survey of speech and language pathology services for Down syndrome: state of the art. Applied Research in Mental Retardation, 7, 491-499. Kumin, L., Councill, C., & Goodman, M. (1994). A longitudinal study of the emrgence of phonemes in children with Down syndrome. Journal of Communication Disorders, 27(4), 293-303. Marcell, M.M., Ridgeway, M.M., Sewell, D.H., & Whelan, M.L. (1995). Sentence imitation by adolescents and young adults with Down's syndrome and other intellectual disabilities. Journal of Intellectual Disability Research, 39(Part 3), 215-232. Miller, J. (1987). Language and communication characteristics of children with Down syndrome. In: S.M Pueschel, et al. New Perspectives in Down syndrome. Baltimore, MD: Brookes Publishing. Mundy, P., Kasari, C., Sigman, M., & Ruskin, E. (1995). Nonverbal communication and early language acquisition in children with Down syndrome and in normally developing children. Journal of Speech and Hearing Research, 38(1), 157-67. I. Dental Barnett, M.L., Press, K.P., Friedman, D., et al. (1986). The prevalence of periodontitis and dental caries in a Down's syndrome population. J Peridontol, 57(5), 288-293. Giannoni, M., Mazza, A.M., Botta, R., & Marci, T. (1989). Dental problems in Down's syndrome. Overview and specific pathology. Dental Cadmos, 57(12), 70-80. Modeer, T., Barr, M., & Dahllof, G. (1990). Periodontal disease in children with Down's syndrome. Scand J Dental Res, 98(3), 228-234. Randell et al. (1992). Preventive dental health practices of non-institutionalized Down syndrome children: a controlled study. Journal of Clinical Pediatric Dentistry, 16(3), 225-229. Vittek, J., Winik, S., Winik, A., Sioris, C., Tarangelo, A.M., & Chou, M. (1994). Analysis of orthodontic anomalies in mentally retarded developmentally disabled (MRDD) persons. Special Care in Dentistry, 14(5), 198-202. <> Harris, S.R. (1980). Transdisciplinary therapy model for the infant with Down's syndrome. Physical Therapy, 60, 420-23. Rogers, M.J. (1990). Functional management of gross motor development of children with Down syndrome, Dev Med Child Neurol, 90:32(suppl 62), 44-45. K. Ear, Nose and Throat Aboussouan et al. (1993). Hypoplastic trachea in Down's syndrome. American Review of Respiratory Disease, 147, 72-75. Harley, E.H., & Collings, M.D. (1994). Neurological sequelae secondary to atlantoaxial instability in Down syndrome. Implications in otolaryngologic surgery. Archives of Otolaryngology -- Head & Neck Surgery, 120(2), 159-165. Kraus, E.M. (in press). Down syndrome and the otolaryngologist: clinical characteristics and recommendations for management. Chapter in Hotaling & Stankiewicz, Pediatric Otolaryngology for the General Otolaryngologist. Marcus, C.L., Keens, T.G., et al. (1991). Obstructive sleep apnea in children with Down syndrome. Pediatrics, 88(1), 132-139. Roizen, N.J., Martich, V., Ben-Ami, T., Shalowitz, M.U., and Yousefzadeh, D.K. (1994). Sclerosis of the mastoid air cells as an indicator of undiagnosed otitis media in children with Down's syndrome. Clinical Pediatrics, 33(7), 439-443. Pappas, D.G., Flexer, C., & Shackelford, L. (1994). Otological and habilitative management of children with Down syndrome. Laryngoscope, 104(9), 1065-1070. Southall, D.P., Stebbins, V.A., et al. (1987). Upper airway obstruction with hypoxaemia and sleep disruption in Down syndrome. Developmental Medicine and Child Neurology, 29, 734-742. Stebbins, V.A., Dennis, J., et al. (1991). Sleep related upper airway obstruction in a cohort with Down's syndrome. Archives of Disorders in Childhood, 66(11), 1333-1338. L. Education Brown, L., Long, E., Udbari-Solner, A., et. al. (1989). The home school: why students with severe intellectual disabilities must attend the schools of their brothers, sisters, friends, and neighbors. Journal of Association for Persons With Severe Handicaps, 14(1), 1-7. Buswell, B.E., & Venerls, J. (1989). Building integration with the IEP. Colorado Springs: PEAK Parent Center, Inc. McDonnell, J.J., Wilcox, B., & Hardman, M.L. (1991). Secondary programs for students with developmental disabilities. Boston: Allyn & Bacon. Murray-Seegert, C. (1989). Nasty girls, thugs, and humans like us: social relations between severely disabled and nondisabled students in high school. Baltimore: Paul Brookes. Stainback, W., & Stainback, S. (1990). Support networks for inclusive schooling. Baltimore: Brookes. Wilcox, B. (1991). School restructuring and the re-thinking of 'special education.' Down Syndrome News. National Down Syndrome Congress, June, 65-66. M. Endocrinology Cutler, A.T., Benezra-Obeiter, R., & Brink, S.J. (1986). Thyroid function in young children with Down syndrome. American Journal of Disorders in Childhood, 140, 479-483. Fort, P., Lifshitz, F., et al. (1984). Abnormalities of thyroid functions in infants with Down syndrome. Journal of Pediatrics, 104, 545-549. Mitchell, C., Blachford, J., Carlyle, M.J., & Clarson, C. (1994). Hypthyroidism in patients with Down syndrome. Archives of Pediatrics & Adolescent Medicine, 148(4), 441-442. Pueschel, S.M. (1985). Thyroid dysfunction in Down syndrome. AJDC, 139(6 ), 636-639. Rubello, D., Pozzan, G.B., Casara, D., Girelli, M.E., Boccato, S., Rigon, F., Baccichetti, C., Piccolo, M., Betterle, C., & Busnardo, B. (1995). Natural course of subclinical hypothyroidism in Down's syndrome: prospective study results and therapeutic considerations. Journal of Endocrinological Investigation, 18(1), 35-40. Selikowitz, M. (1993). A five-year longitudinal study of thyroid function in children with Down syndrome. Developmental Medicine and Child Neurology, 35, 396-401. Stoll, C., Alembik, Y., Dott, B., & Finck, S. (1989). Anomalies in thyroid function in children with trisomy 21. Journal de Genetique Humaine, 37(4-5), 389-393. Zulke, C., Thies, U., Braulke, I., Reis, A., & Schirren, C. (1994). Down syndrome and male fertility: PCR-derived fingerprinting, serological and andrological investigations. Clinical Genetics, 46(4), 324-326. N. Gastrointestinal Hilhorst, et al. (1993). Down syndrome and coeliac disease: five new cases with a review of the literature. European Journal of Pediatrics, 152, 884-887. Knox, G.E., & Bensel, R.W. (1972). Gastrointestinal malformations in Down's syndrome. Minnesota Medicine, 55, 542-544. Reddy, V.N., Aughton, D.J., DeWitte, D.B., & Harper, C.E. (1994). Down syndrome and omphalocele: an underrecognized association. Pediatrics, 93(3), 514-515. O. Genetics and Prenatal Screening Cheng, et al. (1993). A prospective evaluation of a second-trimester screening test for fetal Down syndrome using maternal serum alpha-fetoprotein, hCG, and unconjugated estriol. Obstetrics and Gynecology, 81(1), 72-77. Haddow, et al. (1992). Prenatal screening for Down's syndrome with use of maternal serum makers. New England Journal of Medicine, 327(9), 588-593. Epstein, C. (Ed.). (1992). The phenotypic mapping of Down syndrome and other aneuploid conditions. Proceedings of a National Down Syndrome Conference. New York:Wiley-Liss. Korenberg, J.R., Chen, X.N., Schipper, R., et al. (1994). Down syndrome phenotypes: the consequences of chromosomal imbalance. Proceedings of the National Academy of Sciences of the USA, 44(6), 1039-1045. Palomaki, et al. (1993). Maternal serum screening for fetal Down syndrome in the United States: a 1992 survey. American Journal of Obstetrics and Gynecology, 169(6), 1558-1562. Patterson, D., & Epstein, C.,(Eds). (1989). Molecular genetics of chromosome 21 and Down syndrome. Proceedings of the sixth annual National Down Syndrome Society Symposium. New York:Wiley-Liss. Pueschel, S. (1991). Ethical considerations relating to prenatal diagnosis of fetuses with Down syndrome. Mental Retardation, 29(4), 185-190. Tseng, L.H., Chuang S.M., Lee, T.Y., & Ko, T.M. (1994). Recurrent Down's syndrome due to maternal ovarian trisomy 21 mosaicism. Archives of Gynecology & Obstetrics, 255(4), 213-6. P. Growth Cronk, C., Crocker, A.C., Pueschel, S.M., et al. (1988). Growth charts for children with Down syndrome: 1 month to 18 years of age. Pediatrics, 81, 102-110. Palmer, et al. (1992). Head circumference of children with Down syndrome (0-36 months). American Journal of Medical Genetics, 42, 61-67. Q. Gynecology Bovicelli, L., Orsini, L.F., et al. (1982). Reproduction in Down syndrome. Obstet Gynecol, 59, 135-165. Edwards, J.P. (1990). Sexuality, marriage, and parenting for persons with Down syndrome. In: S.M. Pueschel (Ed.) The young person with Down syndrome. Baltimore: Paul Brookes. 187-204. Edwards, J.P., & Elkins, T.E. (1988). Just between us. Ednick Communications, Portland, OR. Elkins, T.E. (1987). Reproductive health concerns for the person with Down syndrome. J Ped Neurosciences, 3(1), 28-36. Elkins, T.E., Gafford, S., & Muram, D. (1986). A model clinic for reproductive health concerns of the mentally handicapped. Obstet Gynecol, 68(2), 185. Elkins, T.E., McNeeley, D.G., Punch, M., et al. (1990). Reproductive health concerns in Down syndrome. A report of eight cases. J Reproduc Med, 35(7), 745-50. Elkins, T.E., McNeeley, D.G., Rosen, D., et al. (1988). A clinical observation of a program to accomplish pelvic exams in difficult-to-manage patients with mental retardation. Adolescent Pediatr Gynecol, 1, 195-198. Evans, A.I., & McKinlay, I.A. (1988). Sexual maturation in girls with severe mental handicap. Child Care, Health and Development, 14, 59-69. Goldstein, H. (1988). Menarche, menstruation, sexual relations and contraception of adolescent females with Down syndrome. Eur J Obstet Reprod Biol, 27, 3433-49. Heaton, C.J. (1995). "Providing reproductive health services to persons with Down syndrome and other mental retardation," Caring for Individuals with Down Syndrome and their Families, Report of the Third Ross Roundtable on Critical Issues in Family Medicine, Columbus, Ohio: Ross Products Division, Abbott Laboratories. McNeeley, S.C., & Elkins, T.E. (1989). Gynecologic surgery and surgical morbidity in mentally handicapped women. Obstet Gynecol, 74, 155. Rosen, D.A., Rosen, K.R.,& Elkins, T.E., et al. (1991). Outpatient sedation: an essential addition to gynecologic care for persons with mental retardation. Am J Obstet & Gynecol, 164(3), 825-8. R. Hematology Litz, C.E., Davies, S., Brunning, R.D., et al. (1995). Acute leukemia and the transient myeloproliferative disorder associated with Down syndrome: morphologic, immunophenotypic and cytogenetic manifestations. Leukemia, 9(9), 1432-1439. Ribeiro, et al. (1993). Acute megakaryoblastic leukemia in children and adolescents: a retrospective analysis of 24 cases. Leukemia-Lymphoma, 10(-5), 299-306. Robinson, L.L., Nesbit, M.E., Sather, H.N., et al. (1988). Down syndrome and acute leukemia. A 10 year retrospective survey from Children's Cancer Study Group. Journal of Pediatrics, 81, 235-242. Watson et al. (1993). Trisomy 21 in childhood acute lymphoblastic leukemia: a pediatric oncology group study (8602). Blood, 82(10), 3098-3102. Wong, K.Y., Jones, M.M., Srivastava, A.K., et al. (1988). Transient myeloproliferative disorder and acute nonlymphoblastic leukemia in Down syndrome. Journal of Pediatrics, 112, 18-22. S. Immunology Nespoli et al. (1993). Immunological features of Down's syndrome: a review. Journal of Intellectual Disability Research, 37, 543-551. Ugazio et al. (1990). Immunological features of Down syndrome: a review. American Journal of Medical Genetics, 7(supplement), 204-212. T. Longevity, Mortality and Long-term outcome Baird, P.A., & Sadovnik, A.D. (1987). Life expectancy in Down syndrome. Journal of Pediatrics, 110, 849-854. Carr, J. (1994). Long-term-outcome for people with Down syndrome[Review]. Journal of Child Psychology & Psychiatry & Allied Disciplines, 34(3), 425-39. Thase, M.E. (1982). Longevity and mortality in Down's syndrome. Journal of Mental Deficiency Research, 23, 177-192. U. Neurology (See X. Psychiatry, Neurology, and Developmental Biology, below.) V. Ophthalmology Caputo, A.R., Wagner ,R., Reynolds, R.D., et al. (1989). Down syndrome: clinical review of ocular features. Clin Pediatr, 28, 355-358. Catalano, R.A., & Simon, J.W. (1990). Optic disc elevation in Down's syndrome. American Journal of Ophthalmology, 110, 28-32. Courage, M.L., Adams, R.J., Reyno, S., & Kwa, P.G. (1994). Visual acuity in infants and children with Down syndrome. Developmental Medicine & Child Neurology, 36(7), 586-593. Perez-Carpinelli, J., de Fez, M.D., & Climent, V. (19994). Vision evaluation in people with Down's syndrome. Ophthalmic & Physiological Optics, 14(2), 115-121. Roizen. N.J., Mets, M.B., & Blondis, T.A. (1994). Ophthalmic disorders in children with Down syndrome. Developmental Medicine & Child Neurology, 36(7), 594-600. Shapiro, M.B., & France, T.D. (1985). The ocular features of Down syndrome. American Journal of Ophthalmology, 99, 659-663. Wagner, R.S., Caputo, A.R., & Reynolds, R.D. (1990). Nystagmus in Down's syndrome. Ophthalmology, 97(11), 1439-1444. W. Orthopedics American Academy of Pediatrics Committee on Sports Medicine and Fitness. (1995). Atlantoaxial instability in Down syndrome: subject review. Pediatrics, 96(1 Part 1), 151-154. Davidson, R.G. (1988). Atlantoaxial instability in individuals with Down syndrome: a fresh look at the evidence. Pediatrics, 81(6), 857-865. Diamond, L.S, Lynne, D., & Sigman, B. (1981). Orthopedic disorders in patients with Down syndrome. Ortho Clinics NA, 12, 57-71. Mendez, A.A., Keret, D., & MacEwen, G.D. (1988). Treatment of patellofemoral instability in Down's syndrome. Clin Ortho & Related Res, 234, 148-158. Morton, R.E., Khan, M.A., Murray-Leslie, C., & Elliott, S. (1995). Atlantoaxial instability in Down's syndrome: a five year follow-up study. Archives of Disease in Childhood, 72(2), 115-118, discussion 118-119. Msall, M.E., Reese, M.E., et al. (1990). Symptomatic atlantoaxial instability associated with medical and rehabilitative procedures in children with Down syndrome. Pediatrics, 85(3 Pt 2), 447-449. National Down Syndrome Congress. (1991). Atlanto-axial instability in persons with Down syndrome: guidelines for screening. Down Syndrome News, Park Ridge, IL. Parfenchuck, T.A., Betrand, S.L., Powers, M.J., Drvaric, D.M., Pueschel, S.M., & Roberts, J.M. (1994). Posterior occipitoatlantal hypermobility in Down syndrome: an analysis of 199 patients. Journal of Pediatric Orthopedics, 14(3), 304-308. Pueschel, S.M., & Scola, F.H. (1987). Atlanto-axial instability in individuals with Down syndrome; epidemiologic, radiographic, and clinical studies. Pediatrics, 80, 555-560. Pueschel, S.M., Scola, F.H., & Pezzullo, J.C. (1992). A longitudinal study of atlanto-dens relationships in asymptomatic individuals with Down syndrome. Pediatrics, 89(6), 1194-1198. Pueschel, S.M., et al. (1990). Skeletal anomalies of the upper cervical spine in children with Down syndrome. Journal of Pediatric Orthopaedics, 10, 607-611. White, et al. (1993). Evaluation of the craniocervical junction in Down syndrome: correlation of measurements obtained with radiography and MR imaging. Radiology, 186, 377-382. X. Psychiatry, Neurology, and Developmental Biology Brugge, et al. (1994). Cognitive impairment in adults with Down syndrome. Neurology, 44, 232-238. Cooper, et al. (1993). Mania and Down syndrome. British Journal of Psychiatry, 162, 739-743. Cooper, S.A., & Collacott, R.A. (1994). Clinical features and diagnostic criteria of depression in Down's syndrome. British Journal of Psychiatry, 165(3), 399-403. Craddock, N., & Owen, M. (1994). Is there an inverse relationship between Down's syndrome and bipolar affective disorder? Literature review and genetic implications. Journal of Intellectual Disability Research, 38(Pt 6), 613-20. Cuskelly, et al. (1992). Behavioral problems in children with Down's syndrome and their siblings. Journal of Child Psychology and Psychiatry, 33(4), 749-761. Dalton, A.J., & Crapper-McLachlan, D.R. (1986). Clinical expression of Alzheimer's disease in Down syndrome. Psychiatr Clin North Am, 9, 659-670. Evenhuis, H.M. (1990). The natural history of dementia in Down syndrome. Arch Neurol, 47, 263-267. Franceschi, M., Comola, M., Piattoni, F., Gualandri, W., & Canal, N. (1990). Prevalence of dementia in adults patients with trisomy 21. American Journal of Medical Genetics - Supplement, 7, 306-308. Ghaziuddin, et al. (1992). Autism in Down's syndrome: presentation and diagnosis. Journal of Intellectual Disability Research, 36, 449-456. Haveman, M.J., Maaskant, M.A., et al. (1994). Mental health problems in elderly people with and without Down's syndrome. Journal of Intellectual Disability Research, 38(Pt 3), 341-355. Howlin, P., Wing, L., & Gould, J. (1995). The recognition of autism in children with Down syndrome--implications for intervention and some speculations about pathology. Developmental Medicine & Child Neurology, 37(5), 406-414. Kesslak, J.P., Nagat, S.F., Lott, I., & Nalcioglu, O. (1994). Magnetic resonance imaging analysis of age-related changes in the brains of individuals with Down's syndrome. Neurology, 14(3), 304-308. Lai, F., & Williams, R.S. (1989). A prospective study of Alzheimer disease in Down syndrome. Archives of Neurology, 46(8), 849-853. Lund, J., & Munk-Jorgenson, P. Psychiatric aspects of Down syndrome. Acta Psychiatr Scand, 78, 369-374. Myers, B.A., & Pueschel, S.M. (1991). Psychiatric disorders in persons with Down syndrome. Journal of Nervous and Mental Disorders, 179(10), 609-613. Nadel, L., & Epstein, C. (Eds.). (1992). Down syndrome and Alzheimer disease. New York: Wiley-Liss. Nelson, L., Lott, I., Touchette, P., Satz, P., & D'Elia, L. (1995). Detection of Alzheimer disease in individuals with Down syndrome. American Journal of Mental Retardation, 99(6), 616-622. Pueschel, S.M., Louis, S., & McKnight, P. (1991). Seizure disorders in Down syndrome. Archives of Neurology, 48(3), 318-320. Strafstrom, C.E., Patxot, O.F., et al. (1991). Seizures in children with Down syndrome; etiology, characteristics, and outcome. Developmental Medicine and Child Neurology, 33, 191-200. Stafstrom et al. (1993). Epilepsy in Down syndrome: clinical aspects and possible mechanisms. American Journal of Mental Retardation, supplement, 12-26. Stafstrom, C.E., & Konkol, R.J. (1994). Infantile spasms in children with Down syndrome. Developmental Medicine & Child Neurology, 36(7), 576-585. Wiesniewski, K.E., Miezejeski, C.M., & Hill, A.L. (1988). Neurological and psychological status of individuals with Down syndrome. In L. Nadel (Ed.) Psychobiology of Down syndrome. Cambridge: MIT Press. We encourage others to reprint these guidelines with proper credit to DSQ. Editorial permission to reprint HEALTH CARE GUIDELINES FOR INDIVIDUALS WITH DOWN SYNDROME (Down Syndrome Preventive Medical Check List) is granted for educational purposes where any charges may not exceed actual costs of duplication, transmission and/or distribution. Additionally, duplicated copies must include the following information: HEALTH CARE GUIDELINES FOR INDIVIDUALS WITH DOWN SYNDROME (Down Syndrome Preventive Medical Check List) is published in Down Syndrome Quarterly (Volume 1, Number 2, June, 1996) and is reprinted, duplicated, and/or transmitted with permission of the Editor. Information concerning publication policy or subscriptions may be obtained by contacting Dr. Samuel J. Thios, Editor, Denison University, Granville, OH 43023 (email: thios@denison.edu). HEALTH CARE GUIDELINES FOR INDIVIDUALS WITH DOWN SYNDROME (Down Syndrome Preventive Medical Check List) as well as other information regarding Down Syndrome Quarterly may be accessed through the home page of Down Syndrome Quarterly at "http://denison.edu/dsq." HOLIDAY TIPS Holidays can be stressful for parents, and keeping our children amused and happy can make all the difference to the enjoyment of the holiday, whether you are going away or staying at home. It is important to remember that our children learn at different rates, and that what is being taken in by them, may not always be acknowledged directly. Children with Down syndrome are also good at being quiet and not complaining. This should not mean that we should not stimulate them or expose them to a variety of situations. Remember life is one long learning curve for us all. Talk about the holiday period, and what you all want to achieve. Call a family meeting and write down everyone’s priority and how to achieve them. Remember to tell your children that as parents you also need space and time out from them. Car Travel. • Never leave a child in a locked car. • Plan and discuss trip before leaving, who’s to sit where etc. making sure everyone has a turn of their choice. • If arguing persists, stop the car; refuse to continue unless the issue is settled. • Always reward good behaviour. • Negotiate and discuss stops and meal breaks. • Children (and adults!) can learn with many different games played en route. • Estimation of time…for meal breaks etc. keep a log, and give rewards for the

closest estimate. This has lots of scope for discussion about time, and even if it is your other siblings doing most of the playing, our children pick up the importance of time. • I spy. • Alphabet games. Going through the alphabet and naming objects seen outside or in the car beginning with that letter. Place a time limit for each letter and record the winner, then commence on the next letter. Again your child may not always get many names, but they will be listening and taking in what is happening. Remember to use the sound of the letter, not just the name. • ‘White horses’ - finding as many as possible. Use this same method to count other things ie. Blue cars, large trucks etc. • Always have plenty of drinks on hand and small snacks. • Toys, books and tapes, etc, can go in a soft bag with long handles hung from behind the seats in front. • Negotiate ‘air space’ for the CD or tape player with everyone having allocated time.

What did Dr Langdon Down do? Professor O. Conor Ward (former medical advisor to the Down Syndrome Association of Ireland John Langdon Down was an idealist with strong religious convictions. The word idiot, which strikes a discordant note today, was commonly used in Victorian times. Speaking of this he pointed out that it came from the Greek word for the lonely one. His aim was to remove the barriers of isolation and indignity. In his time there were no specialised care workers, psychologists, speech therapists, or social workers. Transport was poor and the only way that special care could be given by forming large groups in institutions. The institutions outlived their role but initially they supplied the only resources available. Dr Langdon Down lived all his life under the same roof as the residents under his care, firstly in the Royal Earlwood Asylum for Idiots and later in Normansfield, his own centre for special training and education for the offspring of the upper classes. He was a grocer's assistant in his father's village shop until the age of 18 when he went to London as an apprentice to Matthew Coleman who had a medical practice in the East End. To fill in the gaps in his education he took the course of the Royal Pharmaceutical Society. When he later entered medical school at the London Hospital he won four gold medals. He was a brilliant student and immediately after taking his degree he was appointed medical superintendent of Earlswood. He introduced wide-ranging reforms and he began a scientific study of disabling disorders. He measured head diameters and palate size. He reported on autopsy findings, took clinical photographs and tried to put the residents into categories. Phrenology, the effort correlate individual intellectual and psychological conditions with skull contours, was still in fashion. So was ethnology, the identification of physical characteristics in different races. One of these was the Mongolian race. Among the Earlswood residents he observed one group, all very similar in appearance, whom he considered to have Asiatic features, and whom he called Mongolian. He emphasised the shape of the face and eyes, their imitativeness, and also their stubborness , and he was of the opinion that as a group, they had the greatest potential for improvement with training. His paper appeared in 1866 and 'mongolism' gradually became the descriptive tearm most widely used. In 1961 a group of the worlds' leading geneticists made four suggestions for a new descriptive term. The editor of the Lancet chose ‘Down’s syndrome’ from the list and 100 years after the original description, ‘Down’s syndrome’ was widely adopted. In 1966 the World Health Organisation backed the new terminology. In the US and in a few other countries ‘Down syndrome’ is preferred. Langdon Down opposed slavery and he was in favour giving women the right to vote, to work and enter all the professions including the church. He supported the campaign for the development of services for the poor. He was indeed a caring pioneer. Reprinted with thanks from the DSAV UK Newsletter Spring 1999.

Problems Faced by Parents Tony McDonald All parents are different. All parents are individual and cannot be categorised into specific groups. For a variety of reasons, the process of reactions of each person (even a husband and wife who share a close bond of love and understanding) to any problem they might face will be different and individual, even though there are certain common threads. How do parents react when a child with Down syndrome is born? When a child with Down syndrome is born into a family, parents will react differently for such reasons as: 􀂃 their individual personality 􀂃 general family upbringing and environment 􀂃 background knowledge of the specific problem 􀂃 earlier experience of people who are handicapped 􀂃 temperament – outlook on life 􀂃 religious faith 􀂃 position of the child in the family (e.g. if it is a first child, parents feel insecure because of their lack of knowledge and experience in parenting. They don't know what to expect from any child, let alone a child who has special needs – a first child is always special) 􀂃 expectations for the child before birth 􀂃 the sex of the child 􀂃 ethnic background 􀂃 how a situation is presented to them (bad news can be passed on badly – negatively, or well – positively) 􀂃 immediate support available 􀂃 access to current unbiased information – particularly whilst the mother is still in hospital 􀂃 the attitudes, actions and communication of others – especially in the early days. When a baby with Down syndrome is born into a family, the emotional stress placed upon that family can cause enormous strain on a household and sometimes a marriage can be at risk. This trauma colours attitudes and reactions. Up until this stage, parents have made their own decisions, governed their own lives. Now something has happened which has taken away that centre of control. For a while, people are a little more childlike – more dependent, more unsure of themselves, more angry – with a need to talk. The unexpectedness of the event often brings initial shock and disbelief. Unreality. Often withdrawal and isolation. An aloneness. Looking to the future Having gone through the initial impact, we pass from the ideal concept of life that we have so carefully cherished, and look to the unvarnished reality of facing the future – hopefully, without panic. It is natural to have apprehensions about the new responsibilities of the future.

Toilet Training (NOTE: As parents it is important to know that a child has to cognitively understand the process of using the toilet. If a child is cognitively delayed, he will therefore be delayed in toilet training. This in no way means that he is NOT able to be toilet trained. He will toilet train as he understands the process. DSAV.) Toilet training is an important step in your child’s growing independence. It is a skill you will want to introduce patiently at the right time. To check whether your child is ready for toilet training, ask the following questions. Does your child: • Stay dry for 2 hours or more? • Have bowel movements generally at the same time of day? • Understand directions like “come here” or “where is your nose”? • Move from one room to another without help? • Sit in a chair and play quietly for up to 5 minutes at a time? • Show periods of independence and pride in learning new skills? • Copy adult behaviours? • Feed him or herself? • Have no viruses and urinary tract infections that may cause persistent wetting? • Remain free from behaviour problems? • Have no neurological damage that could prevent bladder or bladder control? • Not taking medication that may have side effects on elimination? • Show an awareness of having just urinated or had bowel movement by changing facial expression, making different sound, crossing legs, quietness, irritability, squirming, etc. All the above skills are important – the most important prerequisite is the final one. Your child can’t anticipate the need to urinate or defecate but somehow shows an awareness after having done so. Much of the success or failure of your child’s toilet training is dependent on your readiness to spend a significant amount of time and energy for 2 weeks to a month. Start training when social disruptions are at a minimum. Distractions like the birth of a new baby, or if your child is sick can disrupt the process. If social disruptions occur so toilet training is unmanageable, stop and try again when your schedule is less hectic. Before you begin training, collect data on when your child is wet and dry. Keep a record every half hour for 4 to 7 days during the child’s wakeful hours. After pinpointing the times before your child is wet, you can plan when you sit your child on the toilet. Consistency is very important, and you can plan to take your child to the toilet when family disruptions are at a minimum. There are a couple of better things to consider about a potty chair. If the potty has sides or rails and the child’s feet can touch the floor she/he will feel more secure. If you use a toilet insert for training on the toilet, provide a stool or box that will support the child’s feet. Introduce the potty or potty chair to your child. Show him/her the toilet and the potty and talk about their uses. Set the potty up in the bathroom. Sooner or later she/he will sit on it. Let him/her get used to sitting on the potty with nappies on. When the child shows awareness, you can begin bowel training. There are several reasons for beginning with bowel movements first – the child has more time to anticipate a bowel movement than she/he has to urinate. Also, children move their bowels less often and more predictably, so you are more likely to succeed with training. When the child is likely to have a bowel movement, calmly encourage him/her to sit on the potty. If the child resists, do not argue. Wait and try again another time.

Telling your child that he or she has Down syndrome and about Down syndrome

Telling your child that he or she has Down syndrome is something that many of us have found difficult to do. Realising that it has to be done is one matter, but finding the right moment and knowing how to go about it Is another problem altogether, so here are a few strategies which you might find useful. • From birth, make the words Down syndrome part of your everyday language. When out shopping you might be able to point out someone who has Down syndrome and say to your child, "See? That person has Down syndrome! Just like you. She's waiting for a bus/doing the shopping, etc.” • Have books on Down syndrome about the house. • To your other children you can say, “It takes David time to do things because he has Down syndrome, but we can help him.” • Say you're going to the Down syndrome program if your child is in Early Intervention, rather than calling it school. • Once you start talking about Down syndrome, other children in your family will start to ask questions. Answer these simply and as they come, but don't worry about explaining about chromosomes in any detail until children are older. • When telling your child about Down syndrome, say it was something he/she was born with. • Say it's not his/her fault, nor yours. • Explain that he/she may be slower at somethings than other children - like running, talking, thinking. • Your child needs lots of hugs and reassurance and even tell him/her of your love. • Say you will help him/her and that you can learn things together. • It is possible your child may encounter some teasing from other children at school, being called "Down syndrome” or "Minda". To deal with this, your child needs to know that he/she is different, and be able to say, "Yes I am different. All people are different, and so am I.” • Your child may ask if others in the family have Down syndrome. Answer honestly but mention the names of children he/she may know from the Down syndrome program so they don't feel alone with the problem. • If there are tears, it doesn't really matter. Hug each other and reinforce the love. Good luck from the "Been There and Done That's" Thought: "To leave footprints in the sands of time you have to wear work shoes."

BABY WALKERS Babies walk when they are ready, this will depend on their development, personality, experience and opportunity. Often age of walking is a family characteristic. Playing on the floor provides the opportunity to develop all the skills babies require to walk. Strength, co-ordination and balance are developed by rolling, creeping, crawling, sitting, pulling to stand and cruising along the furniture. BABY WALKERS DO NOT HELP BABIES LEARN TO WALK. Walking is more likely to be delayed if a baby spends time in a walker because they are missing out on normal experience. Abnormal walking patterns such as "walking on toes" are encouraged by the use of a baby walker. Babies like the freedom of movement a walker gives them, BUT they often become very frustrated when you put them on the floor afterwards, and they have to make the effort to move themselves. The walker can interfere with the normal sequence of physical development and expose babies to unexpected dangers. SAFETY 1. Babies in walkers can reach things you don't expect, such as oven doors, shelves and tables. 2. Steps and stairs present a major danger to a baby in a walker. They can not see them and their control and experience are not sufficient to protect themselves from serious injuries. THE BEST THING YOU CAN DO IS NOT HAVE A WALKER BUT if your baby is used to a walker and demanding it: 1. Remove the walker out of baby's sight. 2. Take the wheels off and let baby walk on the outside of it and use it as a push along toy. PLAY SAFE - PLAY ON THE FLOOR Welcome To Holland by Emily Perl Kingsley ©1987 by Emily Perl Kingsley. All rights reserved. I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this...... When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans: The Colosseum; Michelangelo’s David; The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting. After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland." "Holland?” you say. "What do you mean Holland? I signed up for Italy! All my life I’ve dreamed of going Italy”. But there's been a change in the flight plan. They've landed in Holland and there you must stay. The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place. So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met. It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts. But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say: "Yes, that's where I was supposed to go. That's what I had planned." And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very, very significant loss. But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

Celebrating Holland- I'm Home by Cathy Anthony (my follow-up to the original \Welcome to Holland\ by Emily Perl Kingsley) I have been in Holland for over a decade now. It has become home. I have had time to catch my breath, to settle and adjust, to accept something different than I'd planned. I reflect back on those years of past when I had first landed in Holland. I remember clearly my shock, my fear, my anger, the pain and uncertainty. In those first few years, I tried to get back to Italy as planned, but Holland was where I was to stay. Today, I can say how far I have come on this unexpected journey. I have learned so much more. But, this too has been a journey of time. I worked hard. I bought new guidebooks. I learned a new language and I slowly found my way around this new land. I have met others whose plans had changed like mine, and who could share my experience. We supported one another and some have become very special friends. Some of these fellow travellers had been in Holland longer than I and were seasoned guides, assisting me along the way. Many have encouraged me. Many have taught me to open my eyes to the wonder and gifts to behold in this new land. I have discovered a community of caring. Holland wasn't so bad. I think that Holland is used to wayward travellers like me and grew to become a land of hospitality, reaching out to welcome, to assist and to support newcomers like me in this new land. Over the years, I've wondered what life would have been like if I'd landed in Italy as planned. Would life have been easier? Would it have been as rewarding? Would I have learned some of the important lessons I hold today? Sure, this journey has been more challenging and at times I would (and still do) stomp my feet and cry out in frustration and protest. And, yes, Holland is slower paced than Italy and less flashy than Italy, but this too has been an unexpected gift. I have learned to slow down in ways too and look closer at things, with a new appreciation for the remarkable beauty of Holland with its tulips, windmills and Rembrandts. I have come to love Holland and call it Home. I have become a world traveller and discovered that it doesn't matter where you land. What's more important is what you make of your journey and how you see and enjoy the very special, the very lovely things that Holland, or any land, has to offer. Yes, over a decade ago I landed in a place I hadn't planned. Yet I am thankful, for this destination has been richer than I could have imagined! Cathy Anthony is a parent, advocate and presently the executive director of the Family Support Institute in Vancouver. For this and more stories by parents and friends, please go to The Parent to Parent of New Hampshire homepage – www.parenttoparentnh.org.) Celebrating Holland- I'm Home by Cathy Anthony (my follow-up to the original \Welcome to Holland\ by Emily Perl Kingsley) I have been in Holland for over a decade now. It has become home. I have had time to catch my breath, to settle and adjust, to accept something different than I'd planned. I reflect back on those years of past when I had first landed in Holland. I remember clearly my shock, my fear, my anger, the pain and uncertainty. In those first few years, I tried to get back to Italy as planned, but Holland was where I was to stay. Today, I can say how far I have come on this unexpected journey. I have learned so much more. But, this too has been a journey of time. I worked hard. I bought new guidebooks. I learned a new language and I slowly found my way around this new land. I have met others whose plans had changed like mine, and who could share my experience. We supported one another and some have become very special friends. Some of these fellow travellers had been in Holland longer than I and were seasoned guides, assisting me along the way. Many have encouraged me. Many have taught me to open my eyes to the wonder and gifts to behold in this new land. I have discovered a community of caring. Holland wasn't so bad. I think that Holland is used to wayward travellers like me and grew to become a land of hospitality, reaching out to welcome, to assist and to support newcomers like me in this new land. Over the years, I've wondered what life would have been like if I'd landed in Italy as planned. Would life have been easier? Would it have been as rewarding? Would I have learned some of the important lessons I hold today? Sure, this journey has been more challenging and at times I would (and still do) stomp my feet and cry out in frustration and protest. And, yes, Holland is slower paced than Italy and less flashy than Italy, but this too has been an unexpected gift. I have learned to slow down in ways too and look closer at things, with a new appreciation for the remarkable beauty of Holland with its tulips, windmills and Rembrandts. I have come to love Holland and call it Home. I have become a world traveller and discovered that it doesn't matter where you land. What's more important is what you make of your journey and how you see and enjoy the very special, the very lovely things that Holland, or any land, has to offer. Yes, over a decade ago I landed in a place I hadn't planned. Yet I am thankful, for this destination has been richer than I could have imagined! Cathy Anthony is a parent, advocate and presently the executive director of the Family Support Institute in Vancouver. For this and more stories by parents and friends, please go to The Parent to Parent of New Hampshire homepage – www.parenttoparentnh.org.) Approaching the new school year The promise of an exciting new year with the prospect of a wealth of wonderful new opportunities to come! How can we take advantage of all these opportunities to best benefit our children in this coming school year? The decision has been made. Your child's school has already been chosen and your initial questions have been answered. The preliminaries are over. Where do we go from here? For the best outcomes for our child there are some commonsense practicalities we must consider. There is a need to plan. We need to know: Goals - Long term and short term. Objectives and outcomes. What do you want your child to learn? What do you expect from the school? What does the school expect from you? Strategies - How will these things happen? What are specific methods, activities, tasks? Resources - Who will provide what, when? Implementation - Who will do what, when and where? Review - A timeline. Who will evaluate and monitor. How? When? Make a chart of these questions; it helps to know your child's strengths and difficulties. Some general handy hints to make schooling easier: • If this is your child's first day at this school, make sure that you have visited beforehand. Know where the staffroom, toilets, classroom, playground, etc. are. • Make the journey to and from school several times so that your child is familiar with the route and won’t get lost. Always go the same way. Talk about the names of the streets and the special landmarks you pass. (This is the beginnings of travel-training.) • Name ALL of your child's belongings, not just clothing. Show him where the labels are. • Encourage your child to organize clean clothes, prepare books and bag etc. the night before, COMMON LEARNING CHARACTERISTICS OF CHILDREN WITH AN INTELLECTUAL DISABILITY The following is a composite list of the difficulties that a teacher may find that a child with an intellectual disability may exhibit in the classroom. The important points to note are: a) The child with the disability will not necessarily have all the characteristics. b) Other children in the grade will also have some of these traits. c) The teaching strategies suggested are applicable to any child in any classroom. 1. The child is a slower learner and takes a long time to complete a task. • Break the task into small, sequential steps, so that the child has a smaller workload, and is able to successfully complete the task – success means increased self-esteem, and a willingness to try new tasks next time. • Work from what the child does/knows. • Have expectations that the child will succeed. • Don’t accept a low standard if you know the child can do better. • Praise all accomplishments highly. 2. The child has a short attention span. • Make the task smaller • Vary the teaching methods and the presentation - use tapes, videos, overhead projector, listening posts, chalkboard, whiteboard etc. - use guest speakers, student presentations, drama, role playing etc. - use whole grade instruction - use individualised teaching - use small teaching groups - use peer-teaching groups - use cross-age tutoring (let the child with the disability have a turn to be the tutor too!) - use co-operative learning groups - use team teaching with other staff members - use volunteers from the community - integrate the curriculum around activities or themes - use books, work sheets, graphs, large pieces of paper, shared projects on paper, shared oral presentations, tape recorders, videos for the presentation of work. - use a computer – the child with the disability can use it with a peer, an aide or alone (Note: Working with another person means greater opportunities to encourage language and social skills ie. Turn taking, co-operation, listening to others etc.) • Give frequent changes of activity Autism and Downs syndrome – the importance of dual diagnosis. In the past, it was thought children with Down syndrome who exhibited autistic behaviors were simply exhibiting behaviors associated with severe or profound handicapped. It is now recognized that children with Down syndrome (DS) can also have true autism spectrum disorder (ASD) and that this occurrence is not rare. As a result, little has been written about the dual diagnosis of Down syndrome and autism spectrum disorder (DS-ASD). This article attempts to summarise some of the available literature and includes identifying symptoms that may be observed in your child. As always, if you are concerned about aspects of your child’s behaviour you should talk to a professional. Parents of children diagnosed with DS-ASD can often identify concerns about their child’s development when compared to other children of a similar age with DS. Many can identify a specific age when their child’s development either regressed or slowed. These patterns of development are usually in the area of social behaviour and language. Parents may describe their child as becoming more withdrawn, obsessively attached to certain objects, engaging in repetitive or stereotyped behaviour, not engaging in imaginative play and losing language skills. Sometimes the signs may be less obvious: the child may have stopped learning signs or using speech; may be happy playing by themselves seeming to need no one else and not responding to his/her name; or may be obsessively staring at lights or ceiling fans and unable to stop, or throwing tantrums when a usual routine has been disturbed. These are all behaviours described in children with ASD. (Patterson, Capone). Many professionals may be reluctant to identify a second development disorder such as ASD in a child with DS – they may be unaware that autism can occur in a child with DS. However, early diagnosis is essential to ensure appropriate early intervention strategies are adapted. Also, sometimes children with DS-ASD may also require additional medical assessments and treatment. Studies suggest that the majority of children with DS-ASD are not severely or profoundly retarded, but function in the moderate to severe range of cognitive delay. Case studies on the occurrence of autism in children with DS show some common similarities: 􀂃 Many children with DS may have autism which goes undetected or is detected at a later stage; 􀂃 Early diagnosis, before age 5, is critical so that interventions may be applied while the brain is still developing. Failure to do early diagnosis and treatment can lead to a life of greatly reduced capabilities than otherwise possible; 􀂃 Once diagnosed with autism, treatment and education strategies for autism should be followed. The DS is secondary. (Vatter) A problem with diagnosing ASD in any child, not only children with DS, is that autism can be displayed across a wide spectrum from mild to severe. Autism diagnosis is more complicated than diagnosing DS as there is no blood test, genetic/chromosome marker, facial features, or other characteristics that apply to all autistic persons. However, diagnosis of autism is critical as without early detection and intervention the life of a person with autism may be much more limited than that of a person with DS. Autism is a syndrome and not a distinct disease. This means that every child with DS-ASD will be different in one way or another. Some will have speech, others will not. Some will rely heavily on routine and order, and others will be more easy going. Finally, autism is a life long condition. PROBLEMS! PROBLEMS! Sadly – in this world of disability we hear so much of problems. However, if we look carefully, we usually find that they are PEOPLE problems, not DISABILITY problems. So often these seem to be ‘behaviour’ oriented. Dr. Christopher Green, the ‘Toddler Tamer’ has some very wise words: “Bad behaviour generally has a purpose – don’t get caught up in a ‘spiral negative’ where a small problem becomes impossible to solve if not addressed at the beginning. Often bad behaviour is a response to stress. Toddlers are ‘super sensitive’ to stress. They feel frightened and this feeds back to bad behaviour. If a situation requires discipline – there are three basic rules. 1. Communicate positively 2. Keep it cool 3. Boost the good, ignore the bad. This includes separating of ‘warring parties’ – there is nothing new in this idea – it is now accepted as the norm in family situations.” Behaviour is communication – so ask what the child is trying to say. Bad behaviour could be caused by: • Unstructured environment • Lack of routine • Lack of individualised attention • Few learning opportunities • Boredom • Non-assertive staff • Too many people in one place • Too much choice • Not enough choice • Too many large group activities • No private space (need for solitude) • Poor communication skills • Too much emphasis on consequent management • Not enough attention to positive reinforcement • Unrealistic expectations of him/her • Confusion • Fear • Frustration If a child has a behaviour problem, know that it is NOT caused because the child has Down syndrome. Rather it is a ‘child’ problem and there will be a cause. You need to find the CAUSE and eradicate that, otherwise you will only change one bad behaviour for another. If you have a SPECIFIC PROBLEM – some suggestions: Analyse the behaviour – not the child. Look carefully at WHAT the child is doing and ask some questions. Write down the answers. • What is the problem? (What is the child doing?) • Why is the child doing it? • How often? • Are other children doing the same thing? (and often not being caught!) • How serious is the behaviour? (Distracting, disruptive, dangerous, irritating, damaging…) • Who is affected? Stubbornness Often children with Down syndrome can exhibit behaviour that appears to be stubbornness – but, in fact, can also be a reaction to one of many situations that the child may face. Examples: • A child may fail to respond because he has not fully comprehended what is expected of him and so may choose not to act rather than be wrong and face punishment – or be made to feel a fool. • A previous bad experience can lead to a reluctance to follow and instruction – where perhaps he has been unable to communicate or ridiculed (eg. to take messages from/to class). • Apparent stubbornness can also be a delaying tactic where the child has only understood part of the direction. • A pattern of failure (at a task) may lead to a refusal to continue attempting it. • Determining the cause of the stubbornness and adapting directions accordingly can help the child overcome the behaviour pattern. The child can experience feelings of inadequacy from time to time that can lead to behavioural problems. Sometimes these feelings can be alleviated if the child is given and area of responsibility at school. Routine is an important factor – however, whilst it has positive effects of dependability and acceptance of repetitive learning techniques, it can lead to difficulty in adapting to change. With this child there may be a longer ‘settling in’ period at the beginning of the new school year. Growing up – puberty and adolescence in children with Down syndrome Puberty and adolescence can be a difficult and confusing time for any child (and their parents!). Children with Down syndrome (DS) will reach this stage also and face the same changes and issues as non-DS children. Issues associated with changes to their bodies, emerging sexuality and associated feelings can be confusing to any child if they have not been prepared by their parents or carers and if they do not have the opportunity to talk through their feelings when they need to. This article attempts to summarise some of the literature available on puberty and adolescence in children with Down syndrome (DS). As always, if you are concerned about some aspect of your child’s development you should always talk to a professional. Every parent has difficulty confronting his or her children’s emerging sexuality. In the past there was a tendency to view individuals with DS as child-like and incapable of full sexual and social lives. It can be difficult for a parent to accept that their child is capable of growing up and forming adult relationships – and it is sometimes easier on the parent to try and pretend these changes won’t happen and that these issues will go away. It is now understood that the child with DS will grow into the adult with DS and along the way will go through the changes associated with that development. Teenagers with DS need to understand these changes, and their emerging sexuality, so that they can become responsible, independent adults who are prepared for inclusion in the community. The most valuable preparation a parent can offer is to provide accurate information about the body, love, sex, birth control and sex related issues. This material needs to be presented in a simple, concrete and matter of fact manner at a level that your child can comprehend. Your child may be confused or take longer to understand the changes to their body and its implications but, with your guidance, will learn to feel comfortable about their sexuality and the associated responsibilities. A good approach to dealing with the changes associated with development is to provide a gradual and natural step by step approach to growing up over a long time period rather than a crash course at a stressful time. Adolescent development. The reproductive organs of boys and girls with DS are usually not affected although in infant boys the penis and testicles may be smaller. Studies of adolescent development indicate that children with DS mature at about the same rate and in the same sequence as children without DS. The first signs of physical changes can begin as early as the pre teen years. Parents often don’t realise that the hormonal changes of puberty start long before any of the physical changes are apparent in their child. Some two years before any outward signs, the pituitary gland starts to produce substances to stimulate the ovaries of a girl and the testes of a boy to produce the appropriate sex hormones. This may happen as early as 7 to 8 years of age. Changes that will happen to girls The sexual development of an adolescent girl with DS follows the same pattern typical for all girls. Down Syndrome and Alzheimer's Disease

Thanks to medical progress and increased inclusion in families and communities, individuals with Down syndrome enjoy a much healthier and longer life than just a few decades ago (Prasher and Krishnan, 1993). Consistent with findings in the general population, the rate of dementia in individuals with Down syndrome increases with increasing age (Tyrrell et al., 2001). However, the likelihood that individuals with Down syndrome will develop AD is much higher, and clinical signs appear much earlier than in the general population. After the fourth decade, adults with Down syndrome often experience a decline in cognitive function and many develop dementia. In fact, virtually all individuals with Down syndrome older than 40 years show brain changes indistinguishable from AD (Wisniewski, 1985; Mann, 1988). What exactly is AD? AD is a nervous system disorder that slowly but progressively robs a person of his or her memory and other cognitive functions. At first, the person may be agitated and confused, but over time, their personality and behavior change. They become more and more forgetful and incapable of taking care of themselves. Loss of short-term memory is generally an early sign. AD is characterized by the development of neuritic plaques (Fig. 1, left panel), neurofibrillary tangles (Fig. 1, right panel), shrinkage of neurons and synaptic loss in certain areas of the brain (for a review see Selkoe, 2001). A part of the brain called the hippocampus, which plays a major role in learning and memory, is especially affected. Even though many healthy older individuals without Down syndrome may also exhibit neuritic plaques and neurofibrillary tangles, it is the increased accumulation of these hallmarks, along with other metabolic changes in the brain that are thought to be the underlying cause of AD.

Figure 1. Left panel: Example of a neuritic plaque from the hippocampus of a 56 year-old person with Down syndrome. Right panel: Example of a normal-appearing neuron (a) and a neurofibrillary tangle-bearing neuron (b) from the same person as in the left panel. Although it is difficult to measure true rates, people with Down syndrome have a higher predisposition to AD than the general population. In one study of institutionalized individuals with Down syndrome, the prevalence rate of dementia was 8% between the ages of 35 and 49 years, 55% between the ages of 50 and 59, and 75% in those older than 60 years (Lai and Williams, 1989). Another study of non-institutionalized individuals reported 0% in the age range 20-29 years, 33% in the age range 30-39 years, and 55% in the age range 40-52 years (Franceschi et al., 1990). In a recent study of the general population, Desai and Grossberg (2005) found that the prevalence of AD rises exponentially from 5% in people aged 65 to 74 to almost 50% in people older than 85. In addition to having a higher predisposition to AD, individuals with Down syndrome on average show clinical symptoms at a much younger age than people without Down syndrome (Wisniewski, 1985). For example, in a study by Prasher and Krishnan (1993), the mean age of onset of dementia in people with Down syndrome was 51.7 years, but could start as early as 31 years. In the general population, approximately one in 10 individuals over 65, and nearly half of individuals over 85 years is affected (Evans et al., 1989). Why are people with Down syndrome more susceptible to developing AD? Though the exact causes of AD are not entirely understood, at least one gene that is widely believed to be involved is located on chromosome 21. This gene encodes a protein called amyloid precursor protein (APP) which when processed in a certain way leads to the formation and accumulation of neuritic plaques (reviewed by Selkoe, 2001). Since people with Down syndrome have an extra chromosome 21, they also have an extra copy of the gene that encodes APP. It is hypothesized that the presence of this extra gene may lead to increased accumulation of neuritic plaques and hence may be partially responsible for the high rate of AD observed in the Down syndrome population (reviewed by Mrak and Griffin, 2004). Recognizing early signs of mental decline and making a diagnosis of dementia in adults with Down syndrome is challenging. Because people with Down syndrome have a lower level of intellectual functioning, standardized tests for detecting dementia in the non-learning impaired population often do not work for people with Down syndrome (Prasher et al., 2004). In addition, no accepted standard instrument is available for evaluating and assessing signs and symptoms of dementia in people with Down syndrome. False positives may arise due to other conditions common to people with Down syndrome presenting as dementia, such as depression, hypothyroidism, or due to test failure resulting from sensory impairment or poor communication and attention during testing (Prasher and Krishnan, 1993). Where does all of this information lead us? Since individuals with Down syndrome are getting older than ever before, there is an increasing need for accurate diagnostic procedures to make progress in understanding and treating dementia in adults with Down syndrome. There is also a growing need for accurate methods of differentiating individuals who have progressive, irreversible AD from those who have cognitive decline caused by treatable conditions (Aylward et al., 1997). Despite the lack of standardized diagnostic methods for AD in Down syndrome, there are several tests that have some reliability and validity in the diagnosis. One such tool that has been widely used is the Adaptive Behavior Scale (ABS) (Nihira, 1974). Recently Prasher et al. (2004) have designed an informant-based questionnaire adapted from the ABS. This Adaptive Behavior Dementia Questionnaire can be given by caregivers annually and is used to detect changes in adaptive behavior over time. Other tests include the Dementia Questionnaire for Persons with Mental Retardation (Evenhuis et al., 1990) and the Dementia Scale for Down Syndrome (Gedye, 1995). Aylward et al. (1997) recommend that all adults with intellectual disabilities (including people with Down syndrome) should be evaluated at least once in early adulthood using standardized procedures to establish a baseline of functioning. Baseline evaluations and periodic screens are recommended to document changes in behavior and mental status over time. This can greatly facilitate the potential diagnosis of AD and other mental health issues as the person serves as his or her own point of reference. Once the diagnosis of AD had been made in an individual with Down syndrome, one may consider therapy to slow down progression of the disease. Drugs that have been approved for the use in AD in the general population may also show benefits in individuals with Down syndrome. Cholinersterase inhibitors such as donepezil, for example, may have a positive effect for some people with Down syndrome (reviewed by Prasher, 2004). For a current review of donepezil in Down syndrome, you may also refer to our last News & Views issue. Given the tight relationship between the APP gene and the incidence of AD, one might also envision targeting this gene for therapy (reviewed by Selkoe, 2001). In summary, progress has been made towards understanding AD in general, which has also helped in trying to understand the early onset of AD in Down syndrome. However, since people with Down syndrome are becoming older, the prevalence of AD in the Down syndrome population is increasing. With this increase, there comes a rising need to find better diagnostic tools so that families and caregivers can be better prepared to find proper programs and the best available treatment. References Aylward, EH, Burt, DB, Thorpe, LU, Lai, F, and Dalton, A (1997) Diagnosis of dementia in individuals with intellectual disability. J Int Disab Res. 41:152-164 Desai, AK, and Grossberg, GT (2005) Diagnosis and treatment of Alzheimer’s disease. Neurology. 64 (Suppl. 3):S34-S39 Evans, DA, Funkenstein, HH, Albert, MS, Scherr, PA, Cook, NR, Chown, ML, Hebert, LE, Hennekens, CH, and Taylor, JO (1989) Prevalence of Alzheimer’s disease in a community population of older persons. Higher than previously reported. JAMA. 262(18):2551-2556 Evenhuis, HM, Kengen, MMF, and Eurling, HAL (1990) Dementia Questionnaire for Mentally Retarded Persons. Hooge Burch, Zwammerdam, the Netherlands Franceschi, M, Comola, M, Piattoni, F, Gualandri, W, and Canal, N (1990) Prevalence of dementia in adult patients with Trisomy 21. Am J Med Gen Suppl. 7:306-308 Gedye, A (1995) Manual for the Dementia Scale for Down Syndrome. Gedye Research and Consulting. Vancouver, Canada Lai, F, and Williams, RS (1989) A prospective study of Alzheimer disease in Down syndrome. Arch Neurol. 46:849-853 Mann, DMA (1988) The pathological association between Down syndrome and Alzheimer disease. Mech Ageing Dev. 43:99-136 Mrak, RE, and Griffin, WS (2004) Trisomy 21 and the brain. J Neuropath Exp Neurol. 63(7):679-685 Nihira, K, Foster, R, Shellhas, M, and Leyland, H (1974). AAMD Adaptive Behaviour Scale, 1974 revision. Washington, DC: American Association on Mental Deficiency Prasher, VP, and Krishnan, VHR (1993) Age of onset and duration of dementia in people with Down syndrome: Integration of 98 reported cases in the literature. Int J Ger Psy. 8:915-922 Prasher, VP (2004) Review of donepezil, rivastigmine, galantamine and memantine for the treatment of dementia in Alzheimer’s disease in adults with Down syndrome: implications for the intellectual disability population. Int J Geriatr Psychiatry. 19:509-515 Prasher, V, Farooq, A, and Holder, R (2004) The Adaptive Behaviour Dementia Questionnaire (ABDQ): Screening questionnaire for dementia in Alzheimer’s disease in adults with Down syndrome. Res Dev Disb. 25:385-397 Selkoe, DJ (2001) Alzheimer’s disease: Genes, proteins, and therapy. Physiol Rev. 81:741-66 Tyrrell, J, Cosgrave, M, McCarron, M, McPherson, J, Clavert, J, Kelly, A, McLaughlin, M, Gill, M, and Lawlor, BA (2001) Dementia in people with Down’s syndrome. Int J ger Psych. 16:1168-1174 Wisniewski, KE, Wisniewski, HM, and Wen, GY (1985) Occurrence of neuropathological changes in dementia of Alzheimer’s disease in Down syndrome. Ann Neurol. 17:278-282 Doctors Too Negative When Diagnosing Down Syndrome

They called me at work to tell me, and then said, 'You have two weeks to decide if you're going to keep this child. Either way, it's an awful thing,'" Allard said. Allard said she was told her child wouldn't be able to read, write or live any sort of productive life. Outside of that, her doctor gave her no further information or resources, she says. "They were very negative throughout the whole thing," she said. "I cried every day. I was so scared." Negative Reaction from Doctors Allard is not alone. In a recent survey, mothers of children with Down syndrome reported physicians are overwhelmingly negative when diagnosing fetuses and newborns with Down syndrome, often advising the mother to discontinue the pregnancy or to put the child up for adoption. The findings have fueled a complicated debate over termination of fetuses diagnosed with a disability, with abortion opponents citing the survey as proof doctors can influence a woman's decision to keep her baby or not. It has also spurred action in Washington with the introduction of the Prenatally Diagnosed Condition Awareness Act, which would require that women whose fetus is diagnosed with Down syndrome or other conditions be provided with medical information and referred to support groups. "My prenatal study says that mothers feel they are getting an inaccurate picture of Down syndrome, often without the most current information and balanced description of the possibilities and realities," said the author, Brian Skotko, a joint-degree student at Harvard Medical School and Harvard's John. F. Kennedy School of Government, via e-mail. "This, of course, is coming at a critical time when many mothers are deciding whether or not to continue with their pregnancies." Skotko mailed an 11-page survey to nearly 3,000 members of five Down syndrome parent organizations and received 1,250 responses, almost 1,000 from mothers who had not undergone prenatal testing and received the Down syndrome diagnosis after delivery. Few called the birth of their child a positive experience. Down syndrome occurs when an individual has three, rather than two, copies of the 21st chromosome, which alters course and development, according to the National Down Syndrome Society. Down syndrome occurs in about one of 1,000 babies, and the chances of it occurring increases with the age of the mother, according to NDSS. There are approximately 350,000 Americans living with Down syndrome. Speaking From Experience Skotko co-authored the award-winning book "Common Threads: Celebrating Life with Down Syndrome," and said he was motivated to conduct the research for the book by his 24-year-old sister, Kristin, who has Down syndrome. "Kristin is one of my life coaches," Skotko said in his e-mail. "Kirstin has taught me to persevere when life challenges, to smile when others frown, to give while others take. She has taught me to find treasures in hidden places and to understand that happiness really nestles within. Kristin lives with Skotko's parents outside of Cleveland and works three part-time jobs. "Physicians often paint a limited picture of today's opportunities for people with Down syndrome, and new parents, with no introduction to Down syndrome, have nothing else to believe," Skotko said. "It is not until they meet other families and receive accurate information that they realize their physicians' words are often limiting." People with Down syndrome have increased risk for certain medical conditions such as congenital heart defects, respiratory and hearing problems, Alzheimer's disease, childhood leukemia and thyroid conditions, according to NDSS. However, their long-term health outlook has improved. In 1983, the life expectancy for a person with Down syndrome was 25; today it is 56. "Kristin gives me a charge and a purpose to advocate on behalf of a forgotten segment of society," Skotko said. Difficult Decision for Parents After much soul-searching with her family, Allard continued her pregnancy and gave birth to Ben, who is now 6. It is a decision she hasn't regretted for one minute. "Thank God we went ahead with it," she said. "He's an absolute joy in our lives." Allard added that Ben, who attends kindergarten at a public school in Franklin, Mass., is doing all the things doctors told her he wouldn't be able to — and more. Allard also has a son, Max, 2, who does not have Down syndrome. After Ben was born, Allard became very involved in the National Down Syndrome Congress, and talks to other parents going through the same tough decisions after learning they may have a child with a disability. "I totally appreciate how somebody feels when they get that information," she said. "It's devastating." For Allard, the decision to keep Ben was the right one for her and her family, but she says she is not judgmental of parents who may opt to terminate a pregnancy. The most important thing, she says, is that parents be given enough information to make the decision that's right for them and know there are support networks out there. Making Changes Based on the comments in his survey, Skotko has come up with the following recommendations for communicating a diagnosis of Down syndrome: Results from the prenatal screening should be clearly explained as a risk assessment, not as a "positive" or "negative" result. Results from the amniocentesis or CVS should, whenever possible, be delivered in person with both parents present. Sensitive language should be used when delivering a diagnosis of Down syndrome. If obstetricians rely on genetic counselors or other specialists to explain Down syndrome, sensitive, accurate and consistent messages must be conveyed. Physicians should discuss all reasons for prenatal diagnosis including reassurance, advance awareness before delivery of the diagnosis of Down syndrome, adoption, as well as pregnancy termination. Up-to-date information on Down syndrome should be available. Contact with local Down syndrome support groups should be offered, if desired.

Down syndrome 'cure' might be within reach of scientists By Carey Goldberg, Globe Staff, 1/27/2004 A decade ago, any researcher who dared to suggest that Down syndrome could one day be "cured" was heading straight for the scientific fringe. Mainstream consensus went: Down syndrome, the leading genetic cause of mental retardation, was too complex a problem even to approach. Now, although that goal remains beyond the horizon, a growing number of reputable researchers at universities such as Stanford and Columbia say they can foresee a time when they'll be able to break the link between Down syndrome and retardation. Armed with an array of new tools -- from genome mapping and stem cells to genetically engineered mice and a deepening understanding of Alzheimer's disease -- they are trying to pinpoint just how the extra chromosome of Down syndrome leads to retardation and a host of other problems. Once they figure that out, the thinking goes, perhaps they can someday help people with Down Syndrome gain some IQ points, or even develop normal intelligence. There is a precedent: Certain rare genetic metabolic diseases once meant certain retardation. Now, those babies can grow up mentally normal, thanks to diagnosis as newborns, pills and diet restrictions. "The whole research scene has changed dramatically" since the extra chromosome, Chromosome 21, was mapped in 2000, said Suzanne Armstrong, spokeswoman for the National Down Syndrome Society. "We realize that any potential treatments resulting from research at the genetic level are years away," she said, "but we're very hopeful." More than 350,000 Americans have Down syndrome and the moderate or mild retardation that generally goes along with it. They are at higher risk for heart defects, childhood leukemia and other physical problems, too. They also tend to have a distinctive look -- short stature, small nose, a relatively flat face. The life expectancy for people with Down syndrome has doubled in the last two decades or so, from 25 to 49 years; and the sweeping movement to raise children at home instead of in institutions has greatly improved the quality of those longer lives, parents and advocates say. Sheila Cannon, coordinator for the Down syndrome center at Children's Hospital in Pittsburgh, said the progress on health and quality-of-life issues since her daughter, Kerry, was born 17 years ago has already been stunning: Back then, she was told, "Down Syndrome is what it is." Now, it seems, that may not always be true. Prevention of mental retardation "may not happen within the next few years, and it may not even be helpful to my daughter, but it probably would be helpful to the generations that follow," she said. "That's how I look at it." Getting there, advocates and researchers say, will require much more of a financial commitment from the federal government. In recent years, federal funding for Down syndrome research has averaged about $10 million a year; the National Down Syndrome Society is now pushing for twice that sum. By comparison, Alzheimer's disease, which affects more than 4 million people, got $600 million from the National Institutes of Health alone in 2002. But some of that river of Alzheimer's money is trickling over to Down syndrome research because of an intriguing connection: The brains of virtually all middle-aged people with Down syndrome show telltale signs of Alzheimer's disease, and one of the genes on Chromosome 21 is linked to production of beta-amyloid, a protein that accumulates in abnormal form in Alzheimer's brains. The beta-amyloid connection raises an exciting prospect, said Dr. Michael Shelanski, codirector of the Taub Institute for Research on Alzheimer's disease at Columbia University: It could be, he said, that a child with Down syndrome becomes retarded simply because "the child is developing with a flood of beta-amyloid, so they don't learn very well, they don't make synapses very well." "We're beginning to study this in the mouse," he said, and eventually, perhaps, drugs that will be developed to sop up extra beta-amyloid in the brains of Alzheimer's patients could also be used to reduce retardation in children. Human research is beginning as well. In a 2002 article in the journal The Lancet, researchers took two sets of post-mortem fetuses, one with Down syndrome and one without, and compared the gene activity of their neural stem cells. They found that certain genes that help brain cells develop and communicate were disrupted only in the Down syndrome fetuses. A Lancet commentary noted that those genes could turn out to be targets for drug and gene therapy in humans. But that will take years to determine. In the meantime, a few clinical trials have begun to test existing drugs to enhance brain function in people with Down syndrome, largely on the premise that whatever shows promise improving learning and memory with Alzheimer's disease might work in Down syndrome as well. Pfizer, which makes an Alzheimer's drug called Aricept, is testing it in dozens of people with Down syndrome around the country, checking for any noticeable improvement in memory, attention, language and more. Results of previous studies of Aricept have tended to be modest, however, said Dr. Ira Lott, director of pediatric neurology at the University of California at Irvine. "The problem with that whole class of medication is that it's temporary," he said. "It's like whipping a tired horse -- the horse runs faster and then poops out." He and colleagues are now working on a study using high-potency antioxidants -- such as vitamins E and C -- for people with Down syndrome. Already, the vitamins have shown some promise in improving learning and memory in Alzheimer's patients, he said. Researchers tend to have an easier time imagining an antiretardation treatment that begins at birth -- or even before -- than one given in adulthood. But an adult treatment is not impossible, said Dr. William C. Mobley, director of a new center for research on Down syndrome at Stanford University. The effects of the extra chromosome "may or may not be reversible," he said. "We just don't know." Years ago, a scientist stating that the retardation of Down syndrome could be prevented was "a voice in the wilderness," said Dr. Leonard E. Maroun, a professor emeritus of microbiology and immunology at the Southern Illinois University School of Medicine. That is changing a bit, said Maroun, who has worked for years on the role that interferon, a virus-fighting protein used to treat some cancers, may play in Down syndrome. He has patented the idea of anti-interferon therapy and is developing an anti-interferon drug that he plans to sell through his Beverly-based start-up, Meiogen Biotechnology. "The general public's image of Down syndrome is one of hopelessness," Maroun said. But, "I'm virtually certain we've got something that will really help. Maybe I'm wrong, but certainly there are ideas out there that make it plausible that we could help these kids, and could encourage scientists to get into this area." Carey Goldberg can be reached at goldberg@globe.com. © Copyright 2004 Globe Newspaper Company.

About Down syndrome and Comprehensive Speech and Language Treatment for Infants, Toddlers, and Children

by Libby Kumin

Libby Kumin is a Professor and Department Chair of the Speech-Language Pathology Department at Loyola College in Baltimore.

This text is from the book Down Syndrome: A Promising Future, Together, Edited by Terry J. Hassold and David Patterson. This material is used with permission of Wiley-Liss, Inc., a subsidiary of John Wiley & Sons, Inc. Copyright 1998 by Wiley-Liss, Inc. This article by Libby Kumin is just one chapter of this comprehensive text on Down syndrome.

This chapter discusses a comprehensive approach to speech and language treatment from infancy through elementary school, which considers the communication strengths and challenges for children with Down syndrome, as well as the specific needs of the individual child with Down syndrome.

Speech and language are complex and present many challenges to the child with Down syndrome that need to be addressed through a comprehensive approach to speech and language treatment. There have been major historical, legislative, and financial influences on speech and language services and service delivery for children with Down syndrome; these are summarized below.

LEGISLATIVE BACKGROUND The Education for All Handicapped Children Act (Public Law 94-142) was passed in 1975 and resulted in special education services in separate classrooms as the model for helping children with disabilities. The Individualized Education Plan (IEP) became the blueprint for each child's educational program for the school year. The law has been amended and renewed to the present day. The most recent legislation is the Individuals with Disabilities Education Act Amendments of 1997 (IDEA 97).

The important ramifications of IDEA for communication in school-age children are that speech-language pathology is a related service and is based on a remediation model. Related services are developmental, corrective, and other supportive services, as may be required to assist a child with a disability to benefit from special education, and includes the early identification and assessment of disabling conditions in children. A remediation model means that the child receives services only when there is a documented problem based on test results, in order to address that problem. With inclusion becoming more common and the regular education initiative, the child's needs for speech-language pathology services may be greater, and the goals may be higher.

Public Law 99-457 provided funding to extend services to children ages 3 to 5 years using the IEP as the child's service plan, and provided for early intervention services to children ages birth to 2 years who are experiencing developmental delays or who have a diagnosed condition that will place them at risk for developmental delay, using the Individualized Family Service Plan (IFSP) as the family's service plan. Children with Down syndrome would qualify for evaluation for services from the time of diagnosis, based on the guidelines in PL 99-457. Important ramifications of PL99-457 for speech and language treatment are that speech-language pathology services are based on a prevention model and that the family is included as central to the treatment process. When the child is 3 years of age, the educational plan changes from the IFSP to the IEP, and this represents a shift from a prevention model to a remediation model, and a shift in service delivery.

IDEA 97 has continued the funding for early intervention services for children under age 3, which was first mandated under PL 99-457. The sections related to early intervention are under Part C in IDEA 97. Whereas speech-language pathology is defined as a related service for children age 3 and older, it is defined as an early intervention service for infants and toddlers younger than 3 years. Early intervention services "are designed to meet the developmental needs of an infant or toddler with a disability in any one or more of the following areas: physical development, cognitive development, communication development, social or emotional development, or adaptive development" (Section 632(C)].

Under IDEA 97, it appears that children under age 3 with Down syndrome would be eligible for early speech-language evaluation and treatment services, audiological evaluations including hearing testing, feeding therapy, assistive communication devices, and transportation and related costs.

IDEA 97 considers several issues that have a direct impact on where services should be delivered. Part A deals with elementary through secondary school. For elementary-school-age children through high-school age, services are most likely to be delivered on site within the school. According to the statutes of IDEA 97, services should be provided in the natural environment, and the interpretation appears to be that "the natural environment" means within the classroom. There is a recognition within the legislation that inclusion within regular classrooms is increasing, and that classroom teachers in regular education settings and specialists (such as speech-language pathologists) in special education roles are working together more frequently. For example, the legislation mandates that the regular education teacher in a child's classroom be part of the IEP team for that child and provides funding for regular educators, classroom assistants, and special education and related services personnel to receive training regarding children with disabilities.

FINANCIAL BACKGROUND Funding issues often drive service delivery in schools and community settings. Most available funding is through health insurance or through federal and state legislation that provides funding for educational budgets. Many health insurance plans do not fund long-term speech and language treatment for children with developmental disabilities. School systems are mandated to provide services based on specific criteria that they have developed to ensure compliance with federal funding. It is essential to become familiar with the entrance and exit criteria, eligibility for services through the local schools, and the criteria and guidelines through the health insurance agency.

GENERAL CONSIDERATIONS FOR SPEECH AND LANGUAGE TREATMENT Although every child is a unique individual and therapy must be designed for the individual child, there are some general considerations that form the foundation for a speech and language treatment program.

Communication skills are important and contribute to inclusion and integration. Communication includes not only speech, but also facial expressions, smiles, gestures, pointing, high five signs, and alternative systems such as sign language and computer-based systems. Children and adults are more likely to interact when they can understand and be understood. At home, in school, and in the community, a functional understandable communication system facilitates relationships.

Although there are common speech and language problems, there is no single pattern of speech and language common to all children with Down syndrome. There are, however, speech and language challenges for most children with Down syndrome. Many children with Down syndrome have more difficulty with expressive language than they do with understanding speech and language, that is, receptive language skills are usually more advanced than expressive language skills. Certain linguistic areas, such as vocabulary, are usually easier for children with Down syndrome than other areas, such as grammar. Sequencing of sounds and of words may be difficult for many children. Many children have difficulties with intelligibility of speech and articulation. Some children have fluency problems. Some children use short phrases, while others have long conversations. All of the speech and language problems that children with Down syndrome demonstrate are faced by other children as well. There are no speech and language problems unique to children with Down syndrome. This means that there is a great deal of knowledge and experience that can be applied to helping a child with Down syndrome with his/her specific areas of challenge.

The speech and language treatment program should be individually designed based on a careful evaluation of each child's communications patterns and needs. It is especially important to include the family as part of the treatment team. The child, family (including siblings and extended family), teacher, friends, and community members can all contribute to the child's communication success. The speech-language pathologist can guide, inform, and help facilitate and enhance the process of learning to communicate effectively. But language is part of daily living and must be practiced and reinforced as part of daily life.

During the school years, speech and language treatment must relate to the child's educational setting and the communication needs of the classroom and the curriculum. Speech and language treatment should also consider the child's needs in relation to community activities such as religious groups and scouting. Communication goes on outside of therapy sessions, as well as inside the sessions. Inclusion and community involvement promote interactive communication and provide models and communication partners.

On the path from infancy to adulthood, the child may need speech-language treatment at various points, and the family may need ongoing information, resources, and guidance to work with the child at home. At different developmental stages, the child may need periods of treatment and/or a home program.

What is a comprehensive speech and language treatment program? It is an individually designed program that meets all of the communication needs for a specific child. Let's examine some of the areas that could be targeted in a comprehensive program at different speech and language learning stages.

During the birth to one-word period, the most important intervention occurs at home. Families need to be the focus of the treatment program. In the program at Loyola College, families observe the therapy sessions 100% of the time, and discuss all of the activities with a clinical supervisor. For each session, they are provided with home activities so that speech and language experiences will continue in the home environment (Kumin et al., 1991). For infants, one focus of the treatment program will be sensory stimulation: providing activities and experiences to help the infant develop auditory, visual, and tactile skills, including sensory exploration and sensory feedback and memory. The child will experience what a bell sounds like, or the different sensations while touching velvet or sandpaper. It is essential to monitor hearing status for every infant with Down syndrome, since they are at high risk for otitis media with effusion (Roberts and Medley, 1995). The most recent literature (Gravel and Wallace, 1995) is finding strong relationships between OME (otitis media with effusion, or fluid in the middle ear without signs or symptoms of ear infection), language development, and academic achievement in typically developing children. Some of the delays in language that we see in children with Down syndrome may be related to the presence of OME. The pediatrician or otolaryngologist and the audiologist will be able to monitor hearing status and treat fluid accumulation in the ear.

Speech is an overlaid function in the human body. Feeding and respiration involve many of the structures and muscles used in speech. Therefore, feeding therapy, sensory integration therapy, and other complementary therapies may have a poistive impact on speech function.

Many infants and toddlers whom we see are very sensitive to touch. They do not want to be touched, don't want their teeth brushed, or do not like certain textures of foods or perhaps mixed food textures. The term "tactilely defensive" is sometimes used. We have found that by using oral massage, direct muscle stimulation, and an oral normalization program (using the NUK massager), infants and toddlers are able increasingly to tolerate touch in the lip and tongue area. The massage program begins with the arms and legs and gradually moves toward the face and intra oral area. A detailed description of the program is included in an article by Kumin and Chapman (1996). We find that babbling and sound making increase after the oral normalization activity. Once the child can tolerate touch and can freely move the articulators, an oral motor skills program is introduced. This might include blowing whistles, blowing bubbles, making funny faces, and sound imitation activities. Generally, the clinician will imitate the child rather than providing a model to imitate.

The basis for communication is social interaction, and certain conversational skills such as turn taking can be developed at a very young age through play (MacDonald, 1989). Peek-a-boo games and handing a toy or musical instrument back and forth are ways of developing turn taking. There are many pre-language skills that can be addressed in treatment before the child is able to talk, so therapy should begin early, before the child speaks the first word (Kumin et al., 1991).

Infants with Down syndrome, by 8 months to 1 year, have a great deal to communicate with the people around them. If they do not have some way of communicating their messages, young children become frustrated by their inability to be understood. A transitional communication system is very important until the child is neurophysiologically able to speak (Gibbs and Carswell, 1991). Although speech is the most difficult communication system for children with Down syndrome, more than 95% of children with Down syndrome will use speech as their primary communication system. Total communication (use of sign language plus speech), communication boards or computer communication systems may be used as communication systems until the child is ready to transition to speech. (Kumin, 1994; Kumin et al., 1991; Meyers, 1994). Research has shown that children with Down syndrome will discontinue using the sign when they can say the word so that it is understandable to those around them.

ONE-WORD TO THREE-WORD PERIOD Once the young child begins to use single words (in sign or speech), treatment will target horizontal as well as vertical growth in language. Treatment may address single word vocabulary (semantic skills) in many thematic and whole language activities, such as cooking, crafts, play, and trips (Kumin et al., 1996). So there may be a great deal of horizontal vocabulary growth. Treatment will also target increasing the length of phrases, the combinations of words that the child can use; this is known as increasing the mean length of utterance (Manolson, 1992). There are many meaningful relations that the child learns in two word phrases (e.g., agent-action, possession, negation), and then further expands into three word phrases.

We have found that the pacing board provides a visual and motoric cuing system that capitalizes on the strengths of children with Down syndrome, and helps children to expand the length of their utterances (Kumin et al., 1995). The pacing board is usually a rectangular piece of tag board with separate circles that represent the number of words in the desired utterance (e.g., "throw ball" would have two circles). The pacing system concept can also be implemented by putting a dot under each word in a book.

Pragmatics skills such as making requests and greetings, as well as conversational skills would be taught during this period.

Vocabulary, pragmatics, and other language activities would generally be approached through play activities. Play would also be used to increase auditory attending and on task attention skills (Schwartz and Miller, 1996). Language skills would be supported through the use of appropriate computer activities, such as First Words or First Verbs by Laureate or Living Books or Bailey's Book House by Edmark (Kumin et al., 1996).

The basis for developing speech during this period is sensory integration (translating auditory to verbal messages) and oral motor abilities. Most children with Down syndrome understand messages, and are able to produce language (through signs) well before they are able to use speech. So sensory integration and oral motor skills therapy are used to strengthen the readiness for speech during this period.

PRESCHOOL THROUGH KINDERGARTEN The young child is usually far more advanced in receptive language skills than in expressive language skills, but both areas are targeted in therapy. During this stage, receptive language work may focus on auditory memory and on following directions, which are important skills for the early school years. It will also focus on concept development such as colors, shapes, directions (top and bottom), prepositions through practice, and play experiences. Expressive language therapy will include semantics, expanding the mean length of utterance, and will begin to include grammatical structures (word order) and word endings (such as plural or possessive). Pragmatics skills such as asking for help, appropriate use of greetings, requests for information or answering requests, as well as role playing different activities of daily living may be addressed. Again, play activities such as dressing and undressing a doll, crafts activities such as making a card, or cooking activities such as making cupcakes may be used. The same activity may target semantic, syntactic, and pragmatics skills, for example, how many cupcakes should we make, what color frosting should we use, and following the directions to make the cupcakes. Many children with Down syndrome learn to read effectively, and this can help in learning language concepts (Buckley, 1993).

During this stage, sounds and specific sound production would be targeted; articulation therapy could begin. But the therapy would also include oral motor exercises and activities on an ongoing basis to strengthen the muscles and improve the coordination of muscles. Intelligibility is the goal of the speech component of therapy.

ELEMENTARY SCHOOL YEARS During the years in elementary school, there is a great deal of growth in language and in speech. Speech-language pathology may involve collaboration with the teacher and may be based in the classroom. Often, the curriculum becomes the material used for therapy, both proactively, to prepare the child for the subject and reactively, to help if problems occur. This makes sense, because school is the child's workplace, and success in school greatly affects self esteem.

Receptive language work becomes more detailed and advanced (Miller, 1988), including following directions with multiple parts, similar to the instructions given in school. Receptive language might include comprehension exercises, reading and experiential activities, and specific comprehension of vocabulary, morphology (word parts such as plurals), and syntax (grammatical rules).

Expressive language therapy would also focus on more advanced topics in vocabulary, similarities and differences, morphology, and syntax. Expressive language work might also include work on increasing the length of speech utterances. The pacing board, rehearsal, scaffolds, and scripts have been found helpful in facilitating longer speech utterances.

Pragmatics becomes very important during this stage; using communication skills in real life in school, at home, and in the community is the goal. Therapy might address social interactive skills with teachers and peers, conversational skills (discourse), how to make requests, how to ask for help when the child doesn't understand material in school, how to clarify statements that people do not understand, and so forth. As the child matures, the communicative activities of daily living will change. Treatment and/or home practice must keep pace with the child's communication needs at every stage.

Speech skills with emphasis on articulation and intelligibility would be targeted in therapy during this period (Swift and Rosin, 1990). An individual analysis of oral motor strengths and challenges is important to determine what specific skills need to be addressed, for example, does the child have low muscle tone or muscle weakness in the oral facial area? difficulty with motor coordination? difficulty with motor planning? Are other speech areas such as voice and fluency affecting intelligibility? Each of these areas can be worked on if they are affecting communication ability for an individual child.

There are many different approaches to speech and language treatment that can be used, and some may be used simultaneously as part of a comprehensive individually designed program.

Therapy may be programmed based on linguistic skills, that is, there may be individual goals for semantics, morphology and syntax, pragmatics, and phonology. Therapy may also focus on different channels. So the goals for therapy may target auditory skills or speech and oral motor skills, or encoding a language message or producing a language message. One channel, such as reading, may be used to assist another channel such as expressive language or written language. Therapy may also be approached through the needs of the curriculum. In this approach, vocabulary would be taught based on the vocabulary that the child needs for success in science or social studies. The therapy may be proactive, teaching in advance the language skills that the child will need for the official curriculum, formal and informal classroom interactions, following directions in class and learning the rules and routines, and skills for interacting with peers. Curriculum-based therapy may also be reactive, targeting areas of difficulty as they occur and providing assistance with study skills and strategies to meet classroom expectations or to overcome difficulties when they occur. The speech-language pathologist can also suggest adaptive and compensatory strategies such as seating in front of the room, using a peer tutor, and visual cue sheets.

Whole language is a current approach in which reading, understanding, writing, and expressive language are taught as a whole. This often is based on children's literature and thematic activities accompanying the books; for example, a book about weather might also involve weather reporting, building a weather station, or drawing pictures or taking photographs of different weather conditions. Whole language does not teach in discrete linguistic units, such as focusing on plurals or verb tenses. Rather, it teaches in larger themes using meaningful multisensory experiences to teach concepts.

Communication in context is a pragmatics approach often used in classroom-based collaborative programs. It considers the entire communication situation including the participants (child, teacher, other children, school stall), the various settings in which the child communicates, and the differences between settings. This approach is very real-world oriented. Therapy might work on scripts and may provide assistance through scaffolds (e.g., fill-in sentences) to help the child learn to communicate more effectively with specific people or in specific settings based on a variety of objectives.

Speech and language treatment is complex and can include different approaches, a variety of goals, and many different activities. The goal is to find treatment approaches and methods which will enable each child to reach his communication potential.

RESOURCES

Communicating Together P0 Box 6395 Columbia, MD 21045-6395 Telephone: 888-816-8501, or 410-995-0722 FAX: 410-997-8735

Communicating Together provides workshops for parents and professionals and a subscription newsletter devoted to speech and language issues in infants, toddlers, children, and adolescents with Down syndrome. Workshops are held in different parts of the country throughout the year. Local workshops can be arranged. The newsletter is published six times per year. Written and edited by Dr. Libby Kumin, each issue includes a major topic article (e.g., IEPs/IFSPs, oral motor skills, intelligibility), questions and answers, home activities and reviews of current research articles. Call Dr. Martin Lazar for more information.

REFERENCES

Buckley S (1993): Language development in children with Down's syndrome: Reasons for optimism. "Down's Syndrome: Research and Practice." 1:3-9. Gibbs ED, Carswell L (1991): Using total communication with young children with Down syndrome: A literature review and case study. Early Childhood Devel 2:306-320. Gravel J, Wallace 1(1995): Early otitis media, auditory abilities, and educational risk. Am J Speech-Language Pathol 4:89-94. Kumin L (1994): "Communication Skills in Children with Down Syndrome: A Guide for Parents." Bethesda, MD: Woodbine House. Kumin L, Chapman D (1996): Oral motor skills in children with Down syndrome. Communicating Together 13:1-4. Kumin L, Councill C, Goodman M (1995): The pacing board: A technique to assist the transition from single word to multi-word utterances. Infant-Toddler Intervention 5:293-303. Kumin L, Goodman M, Councill C (1996): Comprehensive communication assessment and intervention for school-aged children with Down syndrome. Down Syndrome Quart 1:1-8. Kumin L, Goodman M, Councill C (1991): Comprehensive communication intervention for infants and toddlers with Down syndrome. Infant-Toddler Intervention 1:275-296. MacDonald ID (1989): "Becoming Partners with Children - From Play to Conversation." San Antonio: Special Press. Manolson A (1992): "It Takes Two to Talk" (2nd ed.). Idylewild, CA: Imaginart. Meyers L (1994): Access and meaning: the keys to effective computer use by children with language disabilities. J Special Educ Technol 12:257-275. Miller IF (1988): Facilitating advanced speech and language development. In C Tingey (ed.): "Down Syndrome: A Resource Handbook." Boston, MA: College-Hill Press, pp.119-l33. Roberts JE, Medley L (1995): Otitis media and speech-language sequelae in young children: Current issues in management. Am J Speech-Language Pathol 4:15-24. Schwartz S. Miller 1(1996): "The New Language of Toys: Teaching Communication Skills to Special Needs Children?" Bethesda, MD: Woodbine House. Swift E, Rosin P (1990): "A remediation sequence to improve speech intelligibility for students with Down syndrome." Language, Speech Hearing Services Schools 21:140—146. Physical Therapy? By Patricia C. Winders, PT There are 4 factors which will have an impact on the gross motor development of a child with Down syndrome: 1. Hypotonia: Tone refers to the tension in a muscle in its resting state. The amount of tone is controlled by the brain. Hypotonia means that that tone is decreased. It is most easily observed in children with Down syndrome when they are infants. When you pick up a baby with Down syndrome, you will notice that he feels "floppy" or somewhat like a ragdoll. If you put him on his back, his head will turn to the side, his arms will fall away from his body and rest on the surface, and his legs will fall open. This floppiness is due to hypotonia. Hypotonia affects each child with Down syndrome to a different degree. In some the effect is mild, and in others it is more pronounced. Although hypotonia diminishes somewhat over time, it still persists throughout life. Hypotonia will make it more difficult to learn certain gross motor skills. For instance, hypotonia of the stomach muscles will make it more difficult to learn to balance in standing. To compensate for this, children with Down syndrome when learning to stand at a coffee table will tend to lean against the table for support.

2. Ligamentous laxity: Children with Down syndrome also have increased flexibility in their joints. This is because the ligaments that hold the bones together have more slack than is usual. Ligamentous laxity is particularly noticeable in the hips of infants with Down syndrome. When lying on his back, the legs of an infant with Down syndrome will tend to be positioned with his hips and knees bent and his knees wide apart. Later you will notice it in your child's feet. You will notice that when standing, his feet are flat, and he does not have an arch. This increased flexibility tends to make the joints less stable, and it is, therefore, more difficult to learn to balance on them.

3. Decreased strength: Children with Down syndrome have decreased muscle strength. Strength can be greatly improved, however, through repetition and practice. Increasing muscle strength is important because otherwise children with Down syndrome tend to compensate for their weakness by using movements that are easier in the short run, but detrimental in the long run. For example, your child may want to stand, but because of weakness in his trunk and legs, he can only do so if he stiffens his knees. You will be able to help him develop the strength he needs so that he can stand properly without locking his knees.

4. Short arms and legs: The arms and legs of children with Down syndrome are short relative to the length of their trunks. The shortness of their arms makes it more difficult to learn sitting because they cannot prop on their arms unless they lean forward. When they fall to the side, they have to fall farther before they are able to catch themselves with their arms. The shortness of their legs makes it harder to learn to climb since the height of the sofa or stairs presents more of an obstacle. The purpose of physical therapy is not to accelerate the rate at which the child with Down syndrome achieves his gross motor milestones. It is to help the child avoid developing abnormal compensatory movement patterns that are common ways of adjusting for the four factors we have discussed. You can predict with near certainty that children with Down syndrome who do not receive physical therapy will develop the following compensatory movement patterns: • Standing and walking with their hips in external rotation, knees stiff, feet flat and turned out • Sitting with their trunk rounded and pelvis tilted back • Standing with a lordosis (stomach out and back arched) These patterns are likely to result in orthopedic problems in adolescence and adulthood that will impair physical functioning. These problems can be avoided by proactively teaching optimal movement patterns so that strength is developed in the appropriate muscles. Besides preventing the development of abnormal compensatory movements there is an additional opportunity that can be realized by the parent and child during physical therapy. The mastery of gross motor development is the first arena in which your child will take on the challenges of life. Fine motor development, speech and education are all challenges that lie ahead, but gross motor development: rolling over, sitting, crawling and walking are the first challenges he will meet in life. Additionally gross motor skills will be an area of strength for him. The opportunity is for the two of you to learn how to work together in meeting and overcoming the challenges. It is the opportunity for you to begin to learn how he learns. For instance, you are likely to find that he does best when information is presented in small, easily digested bites. You will discover whether he is a risk taker or someone who needs to proceed at a slower and more careful pace. You will find that motivation is a key component to getting his best performance. What the two of you learn in meeting the challenge of gross motor development can provide you with a model for how to meet the other challenges that lie ahead in other areas. Physical therapy services can be accessed through the Early Intervention Program in your area. In 1975 President Ford signed into law PL 94-142, the Education of the Handicapped Act (EHA). The law was amended in 1986 to establish the Handicapped Infants and Toddlers Program (Part H), which provided for services for children from birth to their third birthday. Further amendments in 1990 and 1991 changed the name of the law to the Individuals with Disabilities Education Act (IDEA), and Part H became known as the Early Intervention Program for Infants and Toddlers with Disabilities. States use the law as a guideline for developing policies for providing services to infants and toddlers. Exactly how those services are provided and through what agencies varies from state to state. In choosing a physical therapist, you want one who has pediatric experience. This gives them knowledge about how children develop gross motor skills. You also want a physical therapist that has experience treating children with Down syndrome and understands the abnormal compensatory movements that they are prone to develop. Once the child with Down syndrome has learned to walk, you will use the post walking skills to refine his walking pattern (i.e. a narrow base with feet pointing straight ahead). At this point you will want to access community recreation programs like Gymboree, dance, gymnastics, adapted physical education programs or any other program that develops strength, balance, speed and endurance. Once your child has mastered the basic gross motor skills, your attention will necessarily and appropriately be drawn to other areas, such as speech and language and school performance. Still, you want physical exercise to become an integral and enjoyable part of your child's day to day life. A sedentary life style has negative consequences for anyone, but more so for a person with Down syndrome. If you want additional information, my book, Gross Motor Skills in Children with Down Syndrome: A Guide for Parents and Professionals (Woodbine House), provides you with step by step instructions to facilitate the development of gross motor skills. Looking At Metabolism by Joan E. Medlen, R.D., L.D.

Joan E. Medlen, R.D., L.D., is the mother of two boys, one of whom has Down syndrome. She is a registered, licensed dietitian in private practice in Oregon and frequent speaker at Down syndrome symposiums. This article was originally published in the journal Disability Solutions, Volume 1, Issue 3, Sept/Oct 1996. Reprinted here with permission. © 1996 In the first weeks after our son with Down syndrome was born, my thoughts strayed to his health throughout his life. My impression was that all adults with Down syndrome were very obese. As a dietitian, most of my work had been in the weight management area. I had seen first-hand the effects long-term obesity had on a person's life. I remember emphatically explaining to my husband that we needed to be an aerobically active family. I asked him to consider cross-country skiing instead of downhill skiing, and to plan for activities like family biking trips. Now, seven years later, Andy is a slender, tall boy, like his brother. He eats well, but not perfectly. He appears "active," but it's not very aerobic. And, when I look at other children with Down syndrome at conferences and in my community, there seems to be a mix of body types: some are slight and petite, some are thick and stocky, and some are overweight. Where did that early image of obese adults come from? Had I fallen for a myth? Could it be that this younger generation of persons with Down syndrome will not have as many obese adults? Has the increase in community inclusion changed the incidence of obesity?

Probably not. Research suggests children with Down syndrome are as active as their peers, yet use fewer calories overall. They appear to have a lowered Basal Metabolic Rate, which is the rate a person burns calories for fuel when completely at rest - or sleeping. This means that children with Down syndrome use less energy when they are resting or sleeping. Taking that information one step further, it means that they use fewer calories throughout the day to accomplish the same activities as their normal peers. When Andy hangs out with his friend, and eats the same amount and kind of foods, does the same activities with the same intensity for the same amount of time, he will burn up to 15% fewer calories than his buddy. Since he ate the same amount of food as his buddy, but needs less to do the job, he has calories left over. These extra calories - even as few as 50 calories a day - can lead to an increase in weight. For example, 50 calories is equal to a half of a large Red Delicious Apple. The calories from half an apple left over at the end of the day for one year will lead to about 5 pounds of increased weight. If that continues for 5 years, it becomes a troublesome 25 pounds. With this in mind, it is easy to see how slender children and adolescents with Down syndrome can change into overweight young adults.

There are three ways to adapt for this difference in metabolism: Help on Down syndrome

Increase activity Limit calories Increase activity and limit calories. Focusing on Calories alone is one option. However, unless there are other medical reasons, it is risky to limit calories for children under 18 years of age without direct medical supervision. Children have great vitamin, mineral, protein, carbohydrate and energy needs while they are growing. Limiting calories may cause children to get too few of what they need to grow and develop well. For adults, a sole focus on calories becomes a battle of will-power, and feels like a punishment. As with everything else, focusing on positives and abilities has a far greater effect. Beginning with a focus on physical activity has many more positives. A person can choose from a variety of aerobic activities that are enjoyable. Additionally, regular aerobic activity has many health benefits: increased muscle tone, decreased resting heart rate, decreased blood pressure, a sense of well-being , better sleep, and an increase in metabolism.

Being physically active, and focusing on aerobic activity doesn't mean you need to be an Olympian athlete. For the average person, with or without Down syndrome, adding small amounts of aerobic activity on a regular basis makes a difference. Even small changes in daily activities can be beneficial.

Ideas for adding aerobic activity:

For parents, adults, and children:

Park farther away from where you are going Take the stairs instead of the elevator. My son and I are often seen taking the stairs up and the elevator down -- many times. Walk or bike to activities that are in your community. When you go to the park, play "tag" for 10 minutes with the kids. Don't catch them, just chase them around. Parents think of swinging and climbing the play structure as being active. It's not aerobic activity, except when running between structures. For teenagers and adults:

Use a push mower to mow the lawn. Go on a long walk, hike, or bike with a friend once a week. Join a local recreation facility. Join a walking club. Create some rules: for every one hour of TV watched, go for a walk around the block. (Be prepared to live by the same rules.) Coming up with ideas to increase activity is the easy part. The hard part is choosing activities that are motivating. It is important that the person with Down syndrome make the choice of activity and be involved in setting the goals. The important part is to keep moving and have fun! Working together as a team in the plans for activity will help. Sit down and make plans together. Write them down in a special place. Create a list of 3 small, but specific activities to add in a week. Begin with things that are 99% achievable. Talk about when these activities will be done and who they will be done with, if appropriate. Write them on the calendar. Then, create a way to keep track visually as those goals are met with a chart or check list. Remember to leave room for doing more than the goals you write down - a chance to over achieve!

For Andy, we hope to build habits that will last a lifetime, and be fun. Habits that will increase his activity overall, and hopefully, reduce the risk that he will have to fight the battles that extra weight can bring. And ours too.

Reference: Luke, A., Rozien, N.J., Sutton, M., Schoeller, D.A. Energy Expenditure in children with Down Syndrome: Correcting Metabolic Rate for Movement. Journal of Pediatrics, Vol. 125, 1994.

Information on Down syndrome and Dental Care for the Patient

Introduction Approximately one out of every 800-1,100 births results in an extra chromosome of the twenty-first group called Trisomy 21, or Down syndrome. Affecting over 250,000 people in the U.S. alone, this population has progressed tremendously over recent years to be able to function in the mainstream of society. Inclusive school, work and community settings are now becoming the norm for persons with Down syndrome. This has resulted in a higher level of functioning for most of these individuals with resulting increases in self-esteem and self-image. The demand for dental care in persons with Down syndrome is increasing with this inclusive trend. Most dental treatment for persons with Down syndrome can take place in a general dental office with relatively minor adaptations. In undergraduate dental training there is usually little or no exposure to treating patients with disabilities, and general practitioners may be hesitant to treat these patients with confidence. This paper will attempt to summarize the unique characteristics associated with Down syndrome that influence the dental care and treatment of this population. Systemic factors influencing dental care Although 40 to 50% of babies with Down syndrome are born with some type of cardiac abnormality, most receive surgical correction within the first few years of life. There is, however, an abnormally large percentage who develop Mitral Valve Prolapse (MVP) by adulthood. The incidence of MVP in the normal population is between 5 - 15%. Approximately 50%of adults with Down syndrome have MVP requiring subacute bacterial endocarditis prophylaxis for dental treatment (Barnett, Friedman, & Kastner, 1988). On third of these adults with MVP do not have ascultatory findings, requiring diagnosis of the MVP by echocardiogram. Patients with Down syndrome or their caregivers may not be aware of the need for diagnostic echocardiography in adulthood. A compromised immune system with a corresponding decrease in number of T cells is characteristic of most individuals with Down syndrome. This contributes to a higher rate of infections and is also a contributing factor in the extremely high incidence of periodontal disease. Children with Down syndrome often have chronic upper respiratory infections. These contribute to mouth breathing with its associated effects of dry mouth (xerostomia) and fissuring of the tongue and lips. There is also a greater incidence of aphthous ulcers, oral candida infections and acute necrotizing ulcerative gingivitis. A reduced degree of muscle tone is generally found in Down syndrome. This affects the musculature of the head and oral cavity as well as the large skeletal muscles. The reduced muscle tone in the lips and cheeks contribute to an imbalance of forces on the teeth with the force of the tongue being a greater influence. This contributes to the open bite often seen in Down syndrome. Additionally, reduced muscle tone causes less efficient chewing and natural cleansing of the teeth. More food may remain on the teeth after eating due to this inefficient chewing. Associated with the low muscle tone is a ligamentous laxity seen throughout the body. This causes hyperflexibility of the joints and is theorized that the ligaments around teeth may be influenced as well (Southern Assoc. of Institutional Dentists, p.4, 1994). A condition related to ligamentous laxity is that of Atlanto-axial Instability. The diagnosis and significance of this condition is controversial but is described as an increase in mobility between the C1 and C2 cervical vertebrae and may be seen in 10 - 20% of individuals with Down syndrome. If a patient has this instability, careful positioning in the dental chair is required to avoid any potential harm to the spinal cord. Persons with Down syndrome vary widely as to their degree of intellectual impairment. Most have IQ's in the mild to moderate range and are able to be treated in a normal setting. There is often a relatively severe delay in language development. The patient with Down syndrome will probably understand more than their apparent level of verbal skills. The assistance of the patient's family or caregiver will be necessary in conveying to the dentist and staff what level of communication should be used with the patient. It may take a little extra appointment time to explain procedures to the patient with Down syndrome, but once a level of trust is achieved they are likely to be very cooperative patients. Down syndrome is frequently seen in conjunction with other medical problems. There is a higher incidence of epilepsy, diabetes, leukemia, hypothyroidism and other conditions. Alzheimer's disease and Down syndrome appear to have a strong connection to one another. The importance of a thorough medical history including a work-up by a physician cannot be over emphasized. Orofacial features The primary skeletal abnormality affecting the orofacial structures in Down syndrome is an underdevelopment or hypoplasia of the midfacial region. The bridge of the nose, bones of the midface and maxilla are relatively smaller in size. In many instances this causes a prognathic Class III occlusal relationship which contributes to an open bite (Vittek et al, 1994). Absence or reduction in size of the frontal and maxillary sinuses is common. The incidence of mouth breathing is very high due to a small nasal airway. The tongue may protrude and appear to be too large. True macroglossia is rare, rather a relative macroglossia is found where the tongue is of normal size but the oral cavity is decreased in size due to the underdevlopment of the mid-face. Upon examination the palate in a person with Down syndrome appears to be narrow with a high vault. In actuality the vault is of normal height but the sides of the hard palate are abnormally thick. This creates less space in the oral cavity for the tongue, affecting both speech and mastication. Speech pathologists can be of help teaching correct tongue positioning and increasing the tone of the orofacial musculature. In extreme cases, surgical reduction of the tongue may be indicated (Margar-Bacal et al, 1987; Starmans & Bloem, 1991). With age, both the tongue and the lips in people with Down syndrome tend to develop cracks and fissures. This is a result of chronic mouth breathing. Fissuring of the tongue can become severe and be a contributing factor in halitosis. Patients should be instructed to brush their tongue when they brush their teeth. Another result of chronic mouth breathing may be a decrease in saliva with a dry mouth. This reduces the natural cleansing that occurs in the oral cavity and may contribute to the development of caries. Irritation at the corners of the mouth ("angular chelitis") may also be a result of mouth breathing. The eruption of teeth in persons with Down syndrome is usually delayed and may occur in an unusual order. (Mussig et al, 1990; Fisher-Brandeis, 1989). The delay in eruption may be as long as two to three years. Although independence in feeding and the introduction of food is encouraged in the toddler with Down syndrome, the diet may need to be altered because there are not enough teeth to chew some foods. There is an extremely high rate of missing teeth in both the primary and permanent dentitions. Other irregularities such as microdontia and malformed teeth may be seen. However, in an oral cavity with undersized bone structure, microdontia and missing teeth may be more of a blessing than a problem. Severe crowding can occur in persons with Down syndrome who have developed all of their permanent dentition (Ondarza et al, 1995). In these cases, selective extractions under the supervision of an orthodontist may be of benefit. The roots of the teeth in patients with Down syndrome tend to be small and conical. This is an important factor when considering orthodontic tooth movement and also contributes to early tooth loss in periodontal disease.

Dental disease Historically the incidence of dental decay in persons with Down syndrome has been reported to be extremely low. Recent studies, however, have shown that while the incidence is lower, it is not as rare as once thought and it certainly shouldn't be taken for granted that "these patients won't get decay" (Barnett, 1986). Older studies of caries in persons with Down syndrome used institutionalized populations whose diets were controlled. These groups may not have had the exposure to cariogenic foods at the rate of today's children with Down syndrome who are growing up at home. The incidence is lower, however, and it is theorized that this may be due to delayed eruption of the teeth, increased spacing between teeth or possible differences in the chemical content of the saliva (Morinushi et al, 1995). Today, children with Down syndrome should be educated in proper oral hygiene, and receive the benefits of topical and systemic fluoride. Occlusal sealants are also recommended. Decay in the primary dentition should be properly treated. With the delay of the permanent teeth and the high number of missing teeth, it is critical to maintain the primary dentition as long as possible. On the opposite end of the spectrum from caries is the high rate of periodontal disease seen in Down syndrome (Shapira et al, 1991). Early, severe periodontal disease is often seen with onset in the mid to late teen years. Some studies report an incidence of periodontal disease to be between 90 and 96% of adults with Down syndrome. This is thought to be related to a lowered host immune response due to the compromised immune system in Down syndrome (Sohoel et al, 1995; Sohoel et al, 1992; Revland-Bosma, 1990; Shaw & Saxby, 1986). The amount of plaque and calculus seen on the teeth is not proportionate to the severity of the disease (Yavuzyilmaz et al, 1993). The teeth most affected are the mandibular incisors and maxillary molars. Good oral hygiene and semi-annual prophylaxis appointments may not be enough to prevent the progression of periodontal disease in these patients. Early, aggressive treatment is needed. These patients may need to be seen as often as every three months for scaling and root planing and may also benefit from the use of chlorhexedine mouth rinse and possibly systemic antibiotic therapy (Stabholtz et al, 1991). Obviously, good home care is essential in the management of periodontal disease of this type. This may be difficult to achieve with the intellectual impairment and decreased manual dexterity seen in Down syndrome. Flossing may be very hard for these patients and instruction in the use of a floss holder may be helpful. New mechanical tooth brushing and flossing aids on the market may also be of help. It is important to be sure that the patient's family or caregiver is educated in proper home care as well. Parents need to realize the importance of proper daily home care because the child with Down syndrome may be resistant to tooth brushing. Additionally, the age at which a child with Down syndrome can be expected to take care of his/her own teeth may be much later than that of normal children.

Treatment objectives Treatment objectives for any population with developmental disabilities should be the same as that of normal patients. Treatment plans may need to be adapted as necessary due to each individual's condition, but the overall goal should be to provide as comprehensive treatment as possible. Areas of dental care such as cosmetic dentistry, orthodontics, prosthodontics, and reconstructive oral surgery should not be ruled out simply because the patient has Down syndrome. With the numbers of persons with Down syndrome working and living out in the community, there may be many who desire and can handle some of the more extensive treatment options available today.

Behavior management Good behavior in the dental office is learned. In a population with delayed learning, this can be a challenge for the dentist and staff. Dental treatment for children with Down syndrome may not be sought out at an early age. There may be more pressing medical problems, financial considerations or parents may want to wait until the child seems mature enough to handle a visit to the dentist. Unfortunately this makes it more difficult to teach proper home care and to develop a relationship with the child that will result in cooperative behavior during dental treatment. Determining the level of communication is very important in developing a cooperative relationship with your patient with Down syndrome. The level of receptive vs. expressive language may not be the same. The patient's family or caregiver will be able to guide the dental staff as to what level of communication is appropriate. It is important that the dentist communicate directly with the patient whenever possible in order to build a level of trust. It may be advantageous to have a parent in the operatory during some early childhood visits. Finding out what motivates the child with Down syndrome is also important. Something as simple as receiving a mask at the end of the appointment may be all it takes to ensure cooperation. With more difficult patients requiring more extensive treatment, premedication and/or restraint may be necessary. However, most patients with Down syndrome can handle routine dental care with just a little more time and attention given during the appointment. Scheduling appointments early in the day is beneficial as both patient and operator are more rested. First appointments should be for orientation only, and subsequent appointments may require a little more time than what is usually allowed. The patient's medical history should be obtained prior to the first appointment. This allows for medical consultation if necessary before any treatment begins. Treating the older patient with Down syndrome may present a different set of problems. There appears to be a higher incidence of Alzheimer's disease in persons with Down syndrome. The average age of onset of clinical symptoms is between 40 - 50 years (Sigal & Levine, 1993; Vicary & Caltigirone, 1990; Devenny et al, 1992). These patients will require a great deal of understanding and their level of cooperation may decrease as the disease progresses.

Sleep Apnea It is important that the dental health provider be aware of the incidence of sleep apnea in the Down syndrome population. It has been reported that the incidence of upper airway obstruction may be as high as 31% in children with Down syndrome (Stebbens et al, 1991). The decreased airway size combined with lowered muscle tone predisposes these patients to obstructive sleep apnea. Left untreated, obstructive sleep apnea can further increase developmental delay and lead to pulmonary hypotension and congestive heart failure. Symptoms of obstructive sleep apnea include snoring, restless sleep and unusual sleeping positions. If a patient's family or caregiver reports these symptoms, then referral to a sleep disorders clinic is indicated. Treatment ranges from occlusal repositioning appliances, positive airway pressure and/or surgical correction. Adenotonsillectomy in children with Down syndrome and sleep apnea has been helpful in some cases (Bloch et al, 1990; Phillips & Rogers, 1988; Silverman, 1988).

Summary Dental care for the patient with Down syndrome can be achieved in the general practitioner's office in most instances with minor adaptations. Although this population has some unique dental care needs, few patients require special facilities in order to receive dental treatment. Adequate dental health care for persons with developmentadisabilitiesss is a major unmet health need. It is hoped that this review will encourage general practitioners to be willing to provide comprehensive dental care to their patients with Down syndrome. Down Syndrome: Frequently Asked Questions by Len Leshin, MD, FAAP

Q: Is Down syndrome inherited? A: Only 3 to 5% of cases are inherited; the rest arise as an accident of chromosome arrangement during meiosis. For details, see my essay on the origin of trisomy 21 or Dr. Paul Benke's essay on the types of DS, and the risk and recurrence risk of DS.

Q: Does the use of drugs or alcohol in a parent before or during pregnancy cause children to have Down syndrome? A: No. Down syndrome occurs at conception, so nothing in the pregnancy can cause Down syndrome to occur. As for prior to conception, the research all shows that drug or alcohol use does not increase the risk of having a child with DS.

Q: Are adults with Down Syndrome sterile? A: Women with DS are fertile. Men with DS have traditionally been considered sterile; however, there have been two documented cases of adult men with DS fathering children.

Q: Is fluoride safe to give to children with Down Syndrome? A: There is no evidence that fluoride, used correctly, is harmful to children with DS than any other child. Fluoride in the proper amounts is not toxic.

Q: Does fluoride intake increase the risk of having a child with DS? A: No. A study in 1980 of births in 44 US cities proved conclusively that there was no difference in the rate of births of children with DS in cities with and without fluoridated water supply. (Erickson JD, Teratology 21:177-80,1980)

Q: If maternal age over 35 years is a risk factor for having babies with DS, why are more than half of all babies with DS born to women under 35 years? A: While it is much more common for babies with DS to be born to women over 35 years of age (see my risk page), women under 35 have a higher birth rate. No risk factors have been found yet for women under 35 years of age, but several research groups are looking at this question.

Q: How likely is a person to have a child with Down syndrome if he/she has a sibling with DS? A: For the vast majority of people, having a sibling with DS does not increase one's risk of having a child with DS. That's because 95% of all cases of DS are not inherited. The chromosomal test on the person with DS wil show how likely it is to be an inherited case.

Q: I have read on the internet about treating DS with a type of Indian medicine called Ayurvedic therapy. Is there any evidence that this can help children with DS? A: Not at the present time. To quote Drs. Lodha and Bragga of the Dept of Pediatrics, All India Institute of Medical Sciences in New Delhi: "Evidence-based studies on the efficacy and safety of traditional Indian medicines are limited. The essential ingredient in most formulations is not precisely defined. High quality studies are necessary to evaluate and compare the value of traditional Indian drugs to modern medicine." (Ann Acad Med Singapore 29(1):37-41, 2000)

Q: How prevalent is Alzheimer disease (pre-senile dementia) in adults with Down syndrome? A: In the 1960's, autopsies of adults with DS showed that after about age 30 years, they all have the characteristic plaques and neurofibrillary tangles associated with Alzheimer disease. From that finding, it was assumed that all adults with DS would eventually get Alzheimer dementia if they lived long enough. However, population studies in the 1980s and '90s showed that the percentage of adults with DS who actually get dementia range from 16% to 50%, depending on the criteria used to diagnose dementia. (The rate of Alzhemier disease in the general population is 5 to 10%.) The diagnosis of Alzheimer-type dementia in adults with mental retardation is very difficult, and has been complicated by the fact that many medical conditions seen in adults with DS may mimic cognitive deterioration. So the true prevalence of Alzheimer's dementia in DS may not yet be known.

Q: Are atropine eye drops dangerous for children with DS? A: No. Atropine eye drops are used to dilate the pupil during eye exams, and also to treat the conditions amblyopia, esotropia and strabismus. Children with DS seem to have a greater dilation in response to atropine, and the dilation appears to last longer as well. However, there is no evidence that atropine eye drops has any effect on the body beyond the eyes. (North RV, Ophthal Physiol Opt, 7(2): 109-114, 1987)

Q: What is the life expectancy for people with Down syndrome? A: This is a more complicated question than it seems, because how you answer it depends on how you look at the statistics. First, looking at how long adults with DS live: the last major published article to look at this was in California in 1991, and the results in that study may not be the same for any other place in the world. But that study looked at over 12,000 people with DS and found that major medical problems were not a consistent predictor of mortality, which was a common belief. Instead, self-help skills were the best predictor of life expectancy. Adults with DS and good self-help skills (mobility, self-feeding) could be expected to live into their 50s, while those with poor self-help skills were expected to live into their 40s. (Eyman RK, Amer J Mental Retard, 95(6): 603-612,1991) However, it would be foolish to predict how long a baby born now with DS would live as so many things can change for them medically and socially in the next decades. Looking at this question from a slightly different view, we can ask what is the survival rate for infants born with DS. A study from Europe in 1997 found that in babies born with DS, 88% were alive at 1 year and 82% alive at 10 years. The major cause of death in the first year of life was due to heart defects and/or their complications. If you split the group into with and without congenital heart disease, 80% of babies with heart defects were alive after one year, and 96% of babies with DS with no heart defects were alive after one year. Again, these statistics may change for other parts of the world. (Hayes C et al, Int J Epid, 26(4): 822-829, 1997)

Q: Is craniosacral therapy (cranial therapy) useful for children with Down syndrome? A: Proponents of cranial therapy claim that skull bones can be manipulated to relieve many disorders. To quote the website of the Craniosacral Therapy Assoc. of the UK: "Dr William Sutherland, an American osteopath, discovered intrinsic movements of the bones of the skull around the turn of the century. His further research revealed different rhythmic tidal motions in the body. These movements, which can be measured with delicate scientific instruments, are a direct expression of the health of the system. As research continued it became apparent that these movements are inextricably linked with not only physical health but also mental and emotional health. Palpation of these tide-like motions allows Craniosacral therapists to facilitate change in areas of restriction. This restriction of movement corresponds to a lack of the capacity of the life force to express its self-healing." In reality, the bones of the skull start fusing in infancy and are completely solid by the teen years. More importantly, the cerebrospinal fluid has been shown not to have any measurable pulsation. With that in mind, I conclude that cranial manipulation would not be any more useful than a good massage. For more details, see this review article on craniosacral therapy.

Q: Is iron dangerous for children with DS? A: The claim that iron is dangerous is often based on two suppositions, the first being that since iron is present in plaques in the brain of people with Alzheimer's disease, iron must be part of the process of the creation of the plaques. However, it has been shown that plaques in the brains of people with Alzheimer's disease are very sticky, and contain many things that may not have been involved in the initial formation of the plaques. Researchers have still not come to an agreement on exactly what causes the plaques, and how the plaques actually fit into the clinical picture of dementia. (Readers interested in more on this topic are advised to see the website of the Alzheimer Research Forum.) The second supposition as to why iron might be harmful is based on the fact that people with DS have an excess amount of superoxide dismutase (SOD) in their cells, due to the extra 21st chromosome (see my essay on trisomy for more about this). The excess SOD is supposed to make more hydrogen peroxide available, which may react with iron to cause more damaging free radicals. At the present time, the research on this topic is still questionable and certainly ongoing. There is no definitive evidence that this happens, so it's too early to say that all iron is dangerous. I would certainly not recommend a low-iron formula for any infant with DS due to the high risk of iron deficiency anemia in this age group. After the second year of life, my personal recommendation would be that there's no reason to avoid iron-fortified foods, but there's no reason for extra iron supplementation in vitamins unless there is a documented anemia from iron deficiency. If you want to give your child a chewable vitamin and all your choices have some iron in them, pick the one with the lowest amount. (Caveat: women with DS who are menstruating do need iron supplementation to avoid becoming anemic; they don't tend to eat enough red meat to make up for the monthly blood loss.)

About Down syndrome and Minerals, Vitamins

There has been a lot of debate over recent decades regarding the usefulness of vitamin and/or mineral supplementation in people with Down Syndrome. I have collected here a number of scientific articles which address this topic. If you wish to read more, I have written a summary of Nutritional Supplements and Down syndrome which was posted on another website. I have other related links at the bottom of this page.

Zinc (Note: in all these articles, the dosage of zinc was 1 mg per kg of body weight per day, up to a maximum of 50 mg per day. The Recommended Daily Allowance for infants is 5 mg per day; for children 10 mg per day, and for adults 15 mg per day. The effects of high doses of zinc for long periods of time are not known.)

pro:

Licastro, F et al. Neuroendocrine immune modulation induced by zinc in a progeroid disease -- Down syndrome. Ann NY Acad Sci 1994;299-306. 51 children with DS were given zinc. Researchers state thyroid function tests became normal and white blood cell function improved.

Stabile A et al. Immunodeficiency and plasma zinc levels in children with Down syndrome: A long-term follow-up of oral zinc supplementation. Clin Immuno Immunopath 58:207-216, 1991. Children with DS and low blood zinc levels showed improved lymphocyte function after zinc therapy. Children with DS who had normal zinc levels at the start of the study had no such response.

Licastro, F et al. Zinc affects the metabolism of thyroid hormones in children with Down syndrome. Intern J Neurosci 65:259-268, 1992. 25 children with DS were given zinc; after 4 months, improved thyroid function tests and increased thymulin were noted.

Chiricolo, M et al. Enhanced DNA repair in lymphocytes of Down syndrome patients: the influence of zinc supplementation. Mutation Res 295:105-111, 1993. 15 children were given zinc; after 4 months, improved DNA repair in response to radiation damage was noted.

Napolitano, G et al. Growth delay in Down syndrome and Zinc sulphate supplementation. Am J Med Genet Suppl 7:63-65, 1990. 22 children with DS were given zinc; 15 of those reached a higher centile on the growth chart.

Napolitano, G et al. Is Zinc deficiency a cause of subclinical hypothyroidism in Down syndrome? Ann Genet 33:9-15, 1990. 17 subjects with DS were given zinc; this improved the T3 hormone and had no effect on the T4 hormone.

Kadrabova J, Sustrova M et al. Changed serum trace element profile in Down's syndrome. Biol Trace Element Res 54:201-206, 1996. 16 subjects with DS ages 4 to 23 years had blood tests done. Serum zinc and selenium were lower than the control subjects, serum copper was higher in the subjects with DS, and magnesium levels were normal.

Trubiani O et al. Programmed cell death of peripheral myeloid precursor cells in Down patients: Effect of zinc therapy. Ultrastruct. Path. 20: 457-462, 1996. Children with DS have more circulating immature blood cells which do not function well to fight infection. In this study, zinc appeared to induce the death of these immature cells, causing the body to release more mature white blood cells.

Antonucci A et al. Detection of apoptosis in peripheral blood cells of 31 subjects affected by Down syndrome before and after zinc therapy. Ultrastruct. Path. 21:449-452, 1997. Zinc supplementation suppressed the enzyme gamma-endonuclease, leading to improved survival of white blood cells.

Bucci I, Napolitano G et al. Zinc sulfate supplementation improves thyroid function in hypozincemic Down children. Biol Trace Element Res 67:257-268, 1999. In children with DS and low blood zinc levels, zinc supplementation corrected abnormally high TSH blood levels.

anti:

Lockitch, G et al. Infection and immunity in Down syndrome: a trial of long-term low oral doses of zinc. J Peds 114(5):781-787, 1989. 64 children with DS between 1 and 19 years were given zinc in a double-blinded, controlled study for 1 year. No effect noted on serum immunoglobulins or complement, or on lymphocyte function. A trend toward fewer sick days was noted.

Brigino, EN et al. Normalization of cellular zinc levels in patients with Down's syndrome does not always correct low thymulin levels. Acta Paediatr 85:1370-1372, 1996. 5 children with DS were given zinc. The thymulin (a protein produced by the thymus to stimulate the function of certain lymphocytes) levels were low in 4 of 5 children and remained low despite normalized zinc levels.

Sustrova M, Strbak, V. Thyroid function and plasma immunoglobulins in subjects with Down's syndrome during ontogenesis and zinc therapy. J Endocrinol Invest 17:385-390, 1994. 110 subjects with DS were studied. Zinc therapy did not improve thryoid blood tests.

Zatta P. Letter to the editor, Biol Trace Element Res 73:93-94, 2000. In response to Bucci's 1999 study (above), warns about supplementing zinc due to the concern that zinc may be an etiological cofactor in the development of Alzheimer's disease. [Bucci et al replied to this concern in another Letter to the editor, Biol Trace Element Res 82:273-275, 2001, stating that the evidence regarding the role of zinc is very conflicting, and there is enough evidence for the benefits of supplementation of zinc in people with DS to encourage its use pending more evidence to the contrary.]

Selenium (Note: selenium is a "cofactor" in the enzyme glutathione peroxidase, which helps turn hydrogen peroxide in cells into oxygen and water. The dose of selenium used by the majority of the studies below is 10 micrograms (mcg) per kilogram of body weight per day. The U.S. Recommended Daily Allowance for selenium for infants is 10 mcg per day, for children 20 mcg per day, for teens 40 to 50 mcg per day, adult males 70 mcg per day, and adult females 55 mcg per day. The effects of high doses of selenium for long periods of time aren't known.)

Anneren G et al. Increased plasma and erythrocyte selenium concentrations but decreased erythrocyte glutathione peroxidase activity after selenium supplementation in children with Down syndrome. Acta Paediatr Scand 78:879-884, 1989. Besides the results noted in the title of this article, the authors also noted the parents of the children receiving selenium stated the children had fewer infections while taking the selenium.

Anneren G et al. Increase in serum concentrations of IgG2 and IgG4 by selenium supplementation in children with Down syndrome. Arch Dis Child, 65:1353-1355, 1990. Dr Anneran et al did this study to follow up the surprise findings in the above study; showing selenium may have an immunoregulatory function also.

Antila E et al. Selenium therapy in Down syndrome: a theory and clinical trial. Antioxidants in Therapy and Prev Med, ed. I. Emerit et al, 183-186, Plenum Press, 1990. Selenium supplementation increased red blood cell glutathione peroxidase activity.

Kanavin OJ et al. Thyroid hypofunction in Down's syndrome. Biol Trace Elem Res 78(1-3):35-42, 2000. Thirty-eight institutionalized adults with DS studied, and had lower levels of serum selenium and free thyroxin (T4), and higher Thyroid Stimulating Hormone levels. A positive correlation was found between the low selenium levels and free T4. The authors speculate that supplemental selenium may help thyroid function.

Vitamins

(My personal editorial comments are in parentheses.)

Abalan F et al. A study of digestive absorption in four cases of Down syndrome. Med Hypothesis 31:35-38, 1990. (Presence of undigested meat fibers in stools of 4 adults with DS; authors presume chronic malnutrition from this result.)

Ani C et al. Nutritional supplementation in Down syndrome: theoretical considerations and current status. Dev Med Child Neuro 42:207-213, 2000. (A short, good review of the research to date, concluding there is no good evidence yet for the use of supplements. The authors call for a well designed study on the use of antioxidants in DS to settle the question once and for all.)

Bennett, FC et al. Vitamin and mineral supplementation in Down's syndrome. Pediatrics 72(5):707-13, 1983. (Tried to duplicate Harrell's study, but concluded no differences between placebo and supplements.)

Bidder RT et al. The effects of Multivitamins and Minerals on children with Down syndrome. Dev Med Child Neuro 31:532-537, 1989. (Another attempt to duplicate Harrell's findings, and ends up arguing against using supplements.)

Blackston RD et al. Controlled studies comparing early intervention programs versus supplemental nutritional therapies in children with Down syndrome. Amer J Hum Genet 61(Supp):34, 1997 (abstract). (24 children with DS ages 6 to 17 were given GTC -- Dr. Harrell's formula -- for four months. In comparison with 23 children taking placebos, there was no difference in IQ, visual-motor integration, changes in height or weight, or changes in behavior.)

Cantor DS et al. A report on phosphatidylcholine therapy in a Down syndrome child. Psychol Rep 58(1):207-17, 1986. (Reports the trial of one child with DS on phophatidylcholine. This child did have some improvement of language skills. This study has not been replicated to date.)

Cartlidge PHT and Curnock DA. Specific malabsorption of vitamin B12 in Down's syndrome. Arch Dis Child 61(5):514-15, 1986. (This is a case study of one child with a malabsorption disease who happens to have DS.)

Coleman M et al. A double blind study of vitamin B6 in Down's syndrome infants. J Ment Defic Res 29:233-40, 1985. A study of evoked potentials (EEG patterns in response to stimulation) and cognitive function in children with DS given B6. (There was improvement in evoked potentials but had no clinical effect on cognition.)

Colombo ML, et al. Ascorbic acid in children with Down's syndrome. Minerva Pediatr 41(4):189-92, 1989. Ascorbic acid (vitamin C) deficiency found in the blood of children with DS, showing a definite link between diet and deficiency, and a link between vitamin C deficiency and incidence of infections. (A study by S. Pueschel in 1987 showed normal levels of vitamin C in children with DS.)

Del Arco C., et al. Vitamin D status in children with Down's syndrome. J Intel Disab Res 36:251-257, 1992. 21 children with DS in Spain were shown to have normal levels of active vitamin D metabolites, calcium, magnesium, phosphate, and parathormone levels. (Normal sun exposure is enough to provide needed levels of vitamin D.)

Harrell, RF et al. Can nutritional supplements help mentally retarded children? An exploratory study. Proc Natl Acad Sci 78 (1):574-578, 1981. (This study looked at 16 retarded children, 4 of whom had DS; the American Academy of Pediatrics is on record criticising this study, stating "scant and unconvincing experimental evidence." --AAP policy statement, Aug, 1981.)

Kleijnen J, Knipschild, P. Niacin and vitamin B6 in mental functioning: a review of controlled trials in humans. Biol Psych 29:931-941, 1991. (review of 53 experimental trials, 10 of which used children with Down syndrome; no effects on those children in any of the reviewed studies.)

Menolascino FJ, et al. Vitamin supplements and purported learning enhancement in mentally retarded children. J Nutr Sci Vitaminol 35(3): 181-92, 1989. (An attempt to duplicate Harrell's study with children with DS and other causes for mental retardation, and found no differences between treated and untreated children.)

Metcalfe T et al. Vitamin E concentrations in human brain of patients with Alzheimer's Disease, Fetuses with Down's Syndrome, Centenarians, and controls. Neurochem Research, 14(12):1209-1212, 1989. (No differences in vitamin E concentrations in the brain between fetuses with DS and controls, and patients with AD and controls. The patients with AD did not have DS as well. Argues that the increased in-vitro lipid peroxidation seen in fetal DS brain tissue is not due to a lack of vitamin E, nor does the oxidation cause a depletion of vitamin E.)

Palmer S Influence of vitamin A nutrition on the immune response: findings in children with Down's syndrome. Int J Vitam Nutr Res 48(2):188-216, 1978. Concluded that vitamin A deficiency was common in children with DS and caused increased susceptibility to infection. (See Storm's article, listed below.)

Pincheira J et al. Effect of vitamin E on chromosomal aberrations in lymphocytes from patients with Down's syndrome. Clin Genet 55(3):192-7, 1999. Vitamin E given in vitro to white blood cells from patients with DS. The treated cells had less DNA damage suffered from caffeine than did the untreated cells. (Implies that vitamin E's antioxidant effects keep the white blood cells from harm.)

Pruess JB et al. Vitamin therapy and children with Down syndrome: a review of research. Exceptional Children 55(4): 336-341, 1989. (Intensive review of many articles advocating vitamin therapy. From the study: "In conclusion, the results of the studies undertaken in response to Harrell et al. clearly indicate that vitamin therapy is not useful for young children with DS, and therefore, do not support the idea that increases in micronutrients contribute to improved mental functioning.")

Pueschel SM et al. 5-hydroxytryptophan and pyridoxine: their effects in young children with Down's syndrome. Am J Dis Child 134(9):838-44, 1980. (No differences noted in motor, mental or social development.)

Pueschel SM et al. Vitamin A gastrointestinal absorption in persons with Down syndrome. J Mental Defic Res 34: 269-275, 1990. (Shows no abnormal vitamin A absorption in DS.)

>Smith GF et al. Use of megadoses of vitamins with minerals in Down syndrome. J Pediatr 105(2): 228-34. (Another study showing Harrell's supplement to be ineffective.)

Storm W. Hypercarotenaemia in children with Down syndrome. J Mental Defic Res 34:283-286, 1990. (44 fasting children with DS studied, none with vit. A deficiency, some with hypercarotenemia.)

Weathers C. Effects of nutritional supplementation on IQ and certain other variables associated with Down syndrome. Am J Ment Defic 88(2): 214-7, 1983. (Not only did this study refute Harrell's study, but at the end of the study, the group of children getting the placebo had a higher mean IQ than the treatment group!)

Weise P et al. The use of 5-hydroxytryptophan in the treatment of Down's syndrome. Pediatrics 54(2): 165-8, 1974. (No difference between treated and untreated children.) Amino Acid Profiles in DS by Dr. Len Leshin, MD, FAAP

Many parents of children with Down syndrome are hearing about nutritional supplement formulas that contain many items which are supposed to correct metabolic pathways that have gone wrong due to the extra 21st chromosome. The supplemental packages contain vitamins, minerals, amino acids and antioxidants. I've listed many articles regarding the lack of effect of vitamins on a separate page. Here, I wanted to address the question about amino acid supplementation.

Below is an article published in 1996 that, I feel, has a significant point. I have reprinted this article almost fully intact. Parts I have left out (...) are about technical aspects of the study, references to figures/graphs I cannot duplicate here, or repetitive statements. I feel it's self-explanatory.

Heggarty HJ; Ball R; Smith M; Henderson MJ Amino acid profile in Down's syndrome. York District Hospital, York. Arch Dis Child 1996 Apr;74(4):347-9

Abstract:

"Fasting plasma and urinary amino acid concentrations were studied under carefully controlled conditions in 22 children with Down's syndrome and in age matched controls. The only significant difference between the groups was a higher mean plasma lysine concentration in Down's syndrome patients compared to controls."

From the body of the paper:

"The late Professor Lejeune and his colleagues published a report in 1992 showing that the concentrations of urinary and serum amino acids in patients with Down syndrome differed from those with healthy controls. Their study covered a mixed age range and included many adults. It showed that plasma concentrations of cysteine and lysine were increased in patients with Down syndrome and plasma serine decreased when compared to controls. The urine of the Down syndrome patients also contained raised concentrations of tyrosine, methionine, cysteine and methyl-histidine compared to controls. In the present study, all the patients were children below the age of 18."

"Methods: 22 children with DS provided blood and 21 provided urine samples. The controls were healthy children of comparable age. Twenty controls provided urine samples and 18 provided blood samples. None of the subjects was receiving any medication or special diets during the two weeks before sampling, all of which were done in the fasting state...."

"Results: (Figures 1 and 2, bar graphs comparing labs results.) ...It can be clearly seen that only the plasma lysine concentrations achieve significance in the DS group as compared to controls...."

"Discussion: our results confirm Lejeune's finding only in respect of raised plasma concentrations of lysine in DS. We did not confirm the other findings of his study, namely raised plasma cysteine, reduced plasma serine, and increased urinary tyrosine, methionine, methylhistidine and cysteine. The urinary tyrosine in our DS patients was considerably higher than in controls but the difference did not reach statistical significance."

"In general, hyperlyesinemia is a benign disorder in which the serum lysine concentrations are usually much higher than those found in our DS patients. We feel that the lysine levels in our DS subjects are unlikely to have a significant clinical effect, though they may well indicate a metabolic pathway disequilibrium."

"Lejeune and colleagues had found several different examples of 'enzyme imbalances' in DS which they considered important....Peeters et al reported that some DS subjects were particularly sensitive to 6-mercaptopurine and methotrexate (which involve folate metabolism). Folinic acid therapy seemed to relieve psychoses in some DS patients studied by Lejeune and his colleagues. Other workers in France plan to study the therapeutic affects of increasing serine in the diet plus folic acid supplements in DS children. Lejeune's aims were to link the metabolic consequences of additional chromosomal material with a pathophysiological basis of mental retardation. His theory was that enzyme imbalance may be related to the primary chromosomal abnormality and that intellectual improvement could perhaps follow dietary correction of these biochemical imbalances."

"Our study failed to confirm Lejeune's main findings. Perhaps children have a different amino acid profile from adults. Our subjects were all children, whereas his study contained adults."

"We studied fasting plasma and urinary amino acid concentrations under very well controlled circumstances....Lejeune's paper made no reference to the sample collection conditions....."

"We conclude that when studied under carefully controlled conditions there are no differences in amino acid concentrations between control children and DS patients that would justify dietary supplementation, as recommended by Professor Lejeune."

Dimethyl Sulfoxide (DMSO) and Down Syndrome by Len Leshin, MD, FAAP Copyright 1998, All rights reserved

Dimethyl sulfoxide, or DMSO, is an industrial solvent produced during the process of making paper from trees. In 1959, researchers found that it could protect tissues from the damaging effects of freezing, and it became used in animal research. In 1963, Dr. Stanley Jacob, a researcher in a cryogenics lab, announced that it was useful to treat sprains and arthritis. Since then, this product has been promoted for a wide variety of illnesses and conditions, with almost all based merely on anecdotal evidence. Research with DMSO on humans was temporarily halted in 1965 after animals treated with DMSO were found to have developed changes in the lens of the eye. Research was gradually restarted after no evidence was found of eye changes in humans who had received DMSO previously. DMSO has several interesting properties that may make it useful. For instance, it has the ability to penetrate tissues including intact skin, and carry along with it a variety of chemicals. It has a local analgesic affect, and inhibits certain compounds in the body called prostaglandins, thereby reducing inflammation in tissues. At the present time, the US FDA has approved only a version that is instilled into the bladder for a condition called interstitial cystitis. Current research with DMSO is targeted at head injury, spinal cord trauma, amyloidosis and scleroderma. DMSO is also currently used as a cryopreservative for bone marrow cells and stem cells. Studies on the toxicity of DMSO in adult humans have shown no serious adverse effect when given at or below 1 g/kg body weight, with the exception of hemolysis (breaking down of red blood cells) during intravenous infusions. At doses above this, liver, kidney and intestinal damage has been noted. (Not enough studies have been done on children to determine whether that dosage is the same for them for toxicity.) The most common side effect of DMSO is the breath and body odor, which takes on a quality similar to garlic or oysters. Skin reactions are very common after application of DMSO directly to the skin. Sedation, headache, dizziness and nausea have all been described as side effects of DMSO therapy. (1,2)

In Down syndrome, the rationale given for using DMSO is as a carrier agent, in that it supposedly carries amino acids or other nutrients directly into the brain to affect cerebral metabolism. One Mexican clinic refers to this treatment as the "Weinstein-Turkel Method," based on two doctors who supposedly developed it. Interestingly enough, the only published study on this treatment doesn't mention either doctor.

In 1975, a group of doctors in Chile published a study (3) in which 31 children with Down syndrome were given DMSO and the amino acids GABA, GABOB, acetylglutamine, and arginine intramuscularly. The injections were given either daily or every other day, depending on the age of the child, for 90 days. The children then went through a "rest period" of 30 days, during which they received the amino acids orally, but no DMSO or injections of any sort. This rotation was repeated a total of 3 to 5 times, again depending on the age of the child. The children were studied with psychometric tests, physical exams and lab studies. The treated children were compared to 24 children with Down syndrome who were not given any treatments at all. It is an important point that it is almost impossible to do a blinded placebo study with DMSO because of the body odor that users invariably develop. The authors stated that the treatments improved various physical attributes of the children less than 3 years old, including the appearance of a nasal bridge, hair becoming thicker and the eyes losing their epicanthal folds. The authors also stated that the treated children had an improved developmental quotient, which included advances in motor and social skills. Complications included transient hard, non-painful nodules at the injection sites, with two reported abscesses.

This study has several methodological problems, the biggest one being that apparently the investigators were able to tell which children were treated and which weren't (that is, it was not a "blinded" study). This situation can cause a bias on the part of the investigators and may influence the results. The authors state that photos were taken, but they were not published, nor were any physical measurements of the children published. To quote the authors: "We are aware that this clinical work includes many variables, which make the exact evaluation of the experience difficult. We also believe that to attain better results it is necessary to increase the number of children treated and the length of treatment to more than two years....We plan to continue our work with DMSO-amino acids for at least two years." Unfortunately, no follow-up study was ever published.

Also in 1975, a group of researchers in Oregon, USA, published a study (4) which looked at the effects of oral DMSO (without amino acids) on a group of children diagnosed with mental retardation. The authors do not give their reasoning behind why DMSO by itself might be helpful in these cases. This study group included children with Down syndrome as well as "other types of retardation." The authors do not state how many children had Down syndrome. As with the Chilean study, the side effect of notable body odor made it impossible to set up a placebo group. Instead the authors set up a high-dose group of 34 children and a low-dose group of 33 children, with the low-dose group being just enough to give the children the characteristic odor. There was also a non-dose comparison group of 22 children. No significant side effects were reported. The authors used several different tests to measure language, motor and behavior skills; it does appear that the testers were blinded in this study. The authors state that when the testing is looked at globally, the trend was for the high-dose children to make the most gains, the low-dose children to make intermediate gains, and the non-dose children to make the fewest gains. However, this conclusion was not arrived at statistically. In fact, in language skills, the non-treated children had the most gains. And it should be stressed that the authors did not break down the results to show if children with Down syndrome had any different results from other children with mental retardation. In fact, the failure to group children by diagnosis is a major failure of this study.

Based on these two studies, treatment of children with Down syndrome with DMSO cannot be justified at this time.

References: 1. Willhite CC and Katz PI. Toxicology Update: Dimethyl sulfoxide. J Appl Toxicol 4(3): 155-160, 1984.

2. Swanson, BN. Medical use of dimethyl sulfoxide. Rev Clin Basic Pharmacol 5: 1-33, 1985.

3. Aspillaga MJ, Morizon, G, Avendano, I. Dimethyl sulfoxide therapy in severe retardation in Mongoloid children. Ann NY Acad Sci 243: 421-431, 1975.

4. Gabourie J, Becker, JW, Bateman, B, Dunn, M, Jacob, S. Oral dimethyl sulfoxide in mental retardation. Ann NY Acad Sci 243: 449-459, 1975.

THE CREED OF BABIES WITH DOWN SYNDROME Author Unknown My face might be different But my feelings the same I laugh and I cry And I take pride in my gains I was sent here among you To teach you to love As God in the heavens Looks down from above To him I'm no different His love knows no bounds It's those here among you In cities and towns That judge me by standards That man has imparted But this family I've chosen Will help me get started For I'm one of the children So special and few That come here to learn The same lessons as you That love is acceptance It must come from the heart We all have the same purpose Though not the same start The Lord gave me life To live and embrace And I'll do as you do But at my own pace

TWO WORDS by Cheryl Ward

Your birth brought us closer As death lingered near Your strength as you struggled Gave flight to our fear Down Syndrome they whispered days after your birth Two words that portrayed A false image of your worth Those words did not tell us Of the love you would bring Or the power your smile has To make our hearts sing Down Syndrome didn't tell us What kind of child you would be Filled with amazing surprises Shared with your father and me Hard work, determination, Teaching and learning, it's true Down Syndrome means much of this For each of us, not just you Wonder child, spirited child You've grown and you've thrived Your every achievement Still fill us with pride No matter the voice used Two words can't describe The fullness you've added To so many lives Down Syndrome, those frightening words Whispered so long ago Never did they prepare me For the person I now know

Seattle Special Olympics A few years ago, at the Seattle Special Olympics, nine contestants, all physically or mentally disabled, assembled at the starting line for the100-yard dash. At the gun, they all started out, not exactly in a dash, but with a relish to run the race to the finish and win. All, that is, except one little boy who stumbled on the asphalt, tumbled over a couple of times, and began to cry. The other eight heard the boy cry. They slowed down and looked back. Then they all turned around and went back........every one of them. One girl with Down's Syndrome bent down and kissed him and said, "This will make it better." Then all nine linked arms and walked together to the finish line. Everyone in the stadium stood, and the cheering went on for several minutes. People who were there are still telling the story. Why? Because deep down we know this one thing: What matters in this life is more than winning for ourselves. What matters is helping others win, even if it means slowing down and changing our course. "A candle loses nothing by lighting another." For Aunts, Uncles, and other Relatives Can not stress enough how important it is for family to support the new parents at this time. This is a frightening time for the new parents and they often wonder how their family will treat the new baby. Showing how much you love them and their new baby will help to alleviate these fears; pick up the baby, fuss over the baby, play with the baby. Sometimes you may not know the right thing to say or what you say, is in fact, the wrong thing. We would like to give some suggestions about what not to say and what to say. The following suggestions are based upon the input of many parents of children with Down Syndrome. Things NOT to say These are the things that parents have said really upset or angered them:  "I'm sorry" or any form of pity. Pity is not what new parents want or need. What they need is love and acceptance of their new baby.  "God gives special parents special children" or any variation. The new parents probably don't feel very special right now. Also, some parents may be a little mad at God. Trying to make them feel better with words like these might be appreciated by some parents and not by others. It is best to avoid this.  "They're such loving children." This is a stereotype of children with Down Syndrome and demonstrates that you really don't know much about Down Syndrome.  "Do they know how serious it is?" or any variation. Again, this is a demonstration of a lack of knowledge about Down Syndrome. Some parents may be angry and want to reply with, "How serious is it? Well, every single cell in his body has an extra chromosome... is that serious enough?"  "You are handling this better than I could." This is an invitation for the new parents to say something like, "No, you would be wonderful." Suddenly, the conversation has switched to you instead of the parents and their new baby. Plus, you don't really know how the new parents are handling it, do you? Things TO say These are the things parents have found comforting or made them feel good:  "Congratulations." They just had a baby! What better response to show that you love them and their baby than to say congratulations. It made us feel like 'normal' parents when someone said that to us. If the hospital allows it, a bottle of champagne could be greatly appreciated.  "He/She looks just like you." The baby probably does look like someone in the family. All of the baby's genes are from the family. My son looked exactly like my daughter did when she was just born.  Friends and family who actually 'did' something like read about the disability (or find information on the web!) This really means something to the new parents. It shows love and concern for the baby. The day after we told Mikey's uncle about Mikey having Down Syndrome, he came to visit us with a handful of papers dealing with Down Syndrome he had gotten from the web. That showed us that he really cared.  Offer to babysit. It is a fear of the new parents that their family will not accept the new baby. By saying something like, "Well, when are you going to let me babysit?" you are showing the new parents that you want to be part of the baby's life. This will be a great relief to them.  "He/She will do fine." The new parents are probably pretty worried. They might not know much about Down Syndrome and they may be concerned about possible medical problems. Having a positive attitude will rub off on them. They don't need pessimism or negativity from their loved ones.  "We'll all learn from him/her." This is another good way to show that you intend on being part of their lives. After all, how can you learn from their new baby if you are ashamed of him/her? Their new child will be an opportunity to learn about love, acceptance, and respect for the disabled.  "We will always be here to help." Another very good way to show that you are going to be there. Let the new parents know that you intend on being part of their lives.

What are the Physical Characteristics of Down syndrome? Overall, the weight of evidence is that no significant relationship can be found between the physical characteristics and the person's mental functioning. Cliff Cunningham, Understanding Down Syndrome: An Introduction for Parents

How did the doctors know my baby had Down syndrome? Many babies with Down syndrome have certain physical characteristics which are common in Down syndrome. These signs occur in up to 80% of all cases. Individual characteristics are often found in children without Down syndrome but the Down syndrome child will have several. These traits are:  the eyes have an upward and outward slant  there is a fold of skin on the inner side of the eye (epicanthal fold)  the eye slit is narrow and short  small, white patches can be seen on the edge of the iris  the face has a flat appearance  the head is smaller than average  the soft spots on the head (fontanels) are larger than normal because the baby is growing more slowly  the ears are smaller and lower-set  the mouth is small and the lips are thin which leads to the tongue sticking out because the inside of the mouth is smaller  the neck appears slightly short and loose folds of skin are seen at the back and sides (these go away as the baby grows)  the legs and arms are short in relation to the body  the hands are broad and flat with short fingers, the little finger slants inward, and there is a single crease across the palm  the feet are broad with short toes and there is a larger space than normal between the big toe and the other toes  there is poor muscle tone (hypotonia) and loose-jointedness (hyperflexibility)  reflexes tend to be weaker and the cry is weak If a child has six to ten of these signs, the doctor can be almost certain that the child has Down syndrome. What effect will these physical characteristics have on my baby's health? Children with Down syndrome can be prone to breathing problems due to the smallness of the mouth and the poor development of the sinuses. This can lead to mouth breathing which will encourage the protruding tongue often seen in children with Down syndrome. The protruding tongue in combination with low muscle tone in the muscles of the face can cause nursing problems since the child with Down syndrome may have trouble getting a tight seal on a nipple. The baby may also have a weak suck due to hypotonia and may later have trouble eating solid foods. A therapist can help with this problem. What is hypotonia? Low muscle tone or hypotonia, is very common in children with Down syndrome. Their muscles feel floppy. Although the degree of hypotonia varies from child to child, it generally affects all muscles in the body. Hypotonia may contribute to delays in motor development but with the help of a therapist, improvement in your baby's motor skills will be achieved. Therapy for hypotonia should begin within the first few weeks after the baby is born. A therapist can show you techniques (such as holding the baby in a certain way) that can be beneficial to your baby's development. Low muscle tone can effect eating and speaking skills so a speech therapist should work with your baby. Hyperextensible joints can also effect your baby's development. Your baby's joints may be very flexible. This flexibility can make it difficult for your baby to be stable enough to learn how to walk. Professionals such as Occupational and Physical Therapists can help alleviate these problems. Early intervention is the key. What help is available for children with Down syndrome?

Studies show that early intervention - working to enhance your baby's development and overcome developmental delays - pays enormous dividends. Some of the children with Down syndrome who were involved in early intervention programs developed faster than even the average "normal" child! Most dramatic is the difference between children with Down syndrome who were part of an early intervention program and those who did not participate. French McConnaughey, M. Ed. and Patricia O. Quinn M.D., Babies with Down Syndrome - Edited by Karen Stray-Gundersen Where can I go for help? Under federal law, states are required to provide early intervention services to infants with disabilities from birth to age three. After age three, federal law requires states to provide appropriate special education services. Help can be received from either public or private sources. Public services can be obtained by contacting your state Health or Education departments. Private services may be covered by health insurance. What types of professionals will provide services? Depending on the programs available in your area and the specific needs of your baby, you may work with some or all of the following professionals A Developmental Pediatrician is a doctor with specialized training in childhood development. An Infant Educator is a teacher trained to work on your child's cognitive ability. The Infant Educator will focus her attention on your baby's development and determine if that development is proceeding typically. Areas of concentration for the Infant Educator might be responsiveness to stimulation, social development, and ability to understand concepts. The Infant Educator may work with you to help you learn the techniques to improve your baby's abilities. A Physical Therapist will work on improving your baby's gross motor skills. She will be concerned with muscle tone, reflexes, stability, and motor development. An Occupational Therapist concentrates on fine motor skills. She will be concerned with your baby's ability to reach and hold objects. The Occupational Therapist will also be concerned with your baby's processing of information through vision, touch, hearing, and movement. A Speech Therapist will concentrate on how your baby uses the muscles of the mouth and face to eat and to make sounds. The Speech Therapist can be a resource for problems dealing with feeding. As your baby grows, the Speech Therapist will help your baby properly make sounds and words. Mental Health Professionals include social workers, counsellors, and others who can provide counselling and emotional support to your family. Many early intervention programs include parent support groups which give parents an opportunity to share information and seek advice from other parents. What is an IFSP? The Individuals with Disabilities Education Act (IDEA) requires that an Individualized Family Service Plan (IFSP) be completed for every child eligible for early intervention services. The IFSP must be completed by either a state or local government agency. The IFSP will include your child's strengths and needs, your family's resources and concerns, and the services to be provided. Whatever services your child is to receive must be outlined in the IFSP. The IFSP must also include family services such as:  helping parents learn how to teach their child with Down syndrome  helping siblings learn to cope with their new baby brother or sister The IFSP must be reviewed every six months. Where do we start? As soon as the diagnosis of Down syndrome is received, you should contact an early intervention program in your area. Information about early intervention programs can be received from your doctor, your local school district, your state or county health or education departments, other parents of children with Down syndrome, or your local chapter of ARC. Once you have contacted an early intervention program, they should do a preliminary evaluation of your baby and provide you with initial recommendations. This preliminary evaluation can be of great help when it is time to complete the IFSP. Remember, the program you choose can be changed if you decide a better program is available. Important things to remember:  You are the consumer of a service provided by the early intervention program. The therapist works for you and your baby.  If you do not understand something about your child or the services your child is receiving, ask the therapist to explain. The therapist should answer all your questions in a way that you can understand.  Keep copies of everything and get notes from every therapist after every visit. These notes will help you track your baby's development.  Write down every question you have before the session with the therapist and write down every answer. No one can be expected to remember everything. Suggestions on Buying Toys for Infants and Young Children By Ann Rab, Ed.D

All parents want the best for their children. This is especially true when buying toys for their infants and young children. While it is important to provide interesting and stimulating toys to a child, it does not necessarily mean you have to buy the latest or most expensive toy. The purpose of this article is to offer parents some suggestions and guidelines on buying toys that will foster cognitive development and creativity, without having to spend a fortune. First, remember to KEEP IT SIMPLE. An infant or young child will not know (or even care) that a particular toy is the latest or most "stimulating". The infant will care that the toy is, above all, fun to play with. You should consider what you want the child to gain from play with the toy. For instance, if you want the child to learn about the cause and effect relationship, it is just as useful to offer the child a clear plastic bottle with a block or other object (large enough so the baby won't swallow it) to shake, as opposed to a fancy rattle that makes noise. You can also assist a child to develop fine motor skills by offering small, edible objects (such as Cheerios) to develop a pincer grasp (using the thumb and forefinger) or use a coffee can with a hole cut in the lid to practice putting in and taking out. There are pegboards that also teach the same fine motor skills, but are only useable for that one specific task. For an older child the use of paper, crayons, and paste is very helpful in developing creatively as well as fine motor and social skills. Think how happy a child must be as he or she makes a special picture just for mommy or daddy. At the same time the child is developing writing and hand to eye-coordination skills. These materials may not be fancy, but they go a long way to help a child's development. Think about the many items that you have in your home already that could be used to foster cognitive development and language (pot and pans, plastic containers, a mirror, etc). Of course you need to ensure that the item is child safe. Also, think about how a toy can be used in more than one way. As mentioned above you can use a pegboard for essentially one thing, putting pegs in and taking them out. But if you buy one of the shape sorters that has a cover that you can take on and off, or place the shapes in the different holes in the top, you have a multi-purpose toy. The child can practice putting in and taking out, practice placing the shapes through the correct hole in the lid, and can stack the shapes on top of one another. All of these are vital fine motor skills, yet they can all be taught through the use of one toy. Later on, as the child gets older, you can encourage the child to match the shapes or point to the shapes, which are important pre-academic skills. Try to avoid materials such as flash cards, computer games, and coloring books. For older children these can be useful in reinforcing what is taught in school. For a young child these types of activities can cause frustration (as young as they are they still understand that they have to keep in the line or make their picture like mommy or daddy's) or foster rote skills in which the child does not understand the concept behind the activity, but can remember the correct "answer". For children with special needs, toys and materials may need to be adapted to accommodate for physical or other challenges. The same guidelines already offered can still be applied. If a child has difficulty with fine motor control, perhaps a switch plate (available through specialized toy catalogs, through an early intervention program, or through an occupational or physical therapist) can be connected to a mechanical toy so that the toy will only operate if the child touches the switch plate. There are now thicker crayons which are easier to hold and balls that have sound so the child knows where to find it. If you have a child with special needs, it may be helpful to ask the advice of one of the clinicians or therapists working with your child for specific recommendations. The most valuable commodity you have to offer your child is you. What really assists a child in developing cognitive skills or creativity is a parent who will sit and play along side the child, read to the child, and merely spend time with the child. A simple game of "Peek-a-boo" will do more to foster your child's cognitive, social, and language development than the fanciest most expensive toy you can buy. Good Luck!! Down Syndrome have a decreased risk of contracting cancer (excluding leukemia)

Down Syndrome-Cancer Link Studied January 14, 2000 LONDON (AP) - While people with Down syndrome have a high chance of developing childhood leukemia, a new study shows they have only half the normal lifetime risk of getting other kinds of cancer. Experts already knew about the leukemia risk faced by people with Down syndrome, but the study by Danish scientists is the first to estimate their chances of developing other cancers. The study, published in this week's issue of The Lancet medical journal, suggests those with Down syndrome may be protected because they have an extra copy of a chromosome that contains cancer-fighting genes. Normally, people have two copies of each chromosome - one from each parent - but those with Down syndrome have three copies of chromosome 21, which has at least one gene linked to leukemia. Scientists suspect the 10-fold increased risk of leukemia among those with Down syndrome could be related to having the extra copy of the gene. The researchers could not say why people with Down syndrome appeared to be less vulnerable to other cancers, but scientists have identified several genes on chromosome 21 they suspect could help curtail the growth of cancerous tumors. The findings provide a clue that there might be more protective genes on chromosome 21 to identify. "Further studies on these putative genes may have implications for the understanding of (how cancer develops) and eventually the prevention of cancer in the general population," said the study's leader, Dr. Henrik Hasle, a childhood cancer specialist at Skejby Hospital at Aarhus University in Denmark. In the study, the occurrence of cancer in 2,814 people with Down syndrome was compared to that in the general Danish population. The research looked at cancer occurring at any time from birth to old age. The study found that those with the syndrome had a 50 percent lower risk of non-leukemia cancers, compared with their counterparts of the same age. The advantage remained consistent regardless of their age. "The finding that the decreased risk persisted in the older age groups is of considerable importance for the future," said Charles Stiller, an epidemiologist at the childhood cancer research group at England's Oxford University, which was not connected to the study. "Long-term survival in people with Down syndrome is more common these days, and this study suggests that people with Down syndrome with a normal lifespan will be less vulnerable to cancer than other people," Stiller said. "Once one is past the period of raised risk of leukemia in childhood, the overall cancer risk is appreciably lower than in the general population." The most significant advantage was seen in breast cancer, according to the study. The scientists expected to see seven cases among the Down syndrome group, based on what occurs normally, but they found none. They found no new cases of leukemia after the age of 29. The researchers acknowledged that the drop in risk for some of the cancers could be due in part to non-genetic reasons such as a healthier lifestyle. Copyright 2000 The Associated Press. All rights reserved. Mum's books for her son set to be UK success story GARETH ROSE BOOKS written by an Edinburgh mother to help her Down's syndrome son learn to read are set to be brought into schools across the UK. Marie Dunleavy wanted her three-year-old to be able to read as well as any other child, despite suffering from the disability, so started writing books for him herself. Now aged nine, Daniel Dunleavy has gone from a struggling toddler to having the reading age of an older boy without special needs thanks to his mum's books. Daniel's teachers at Morningside Primary School heard about Mrs Dunleavy's books and brought them into the classroom for him and other children to use. They are now being tried out at five Edinburgh schools, including three primaries and two special schools, while others in Dublin are showing an interest. The books have proved so popular that Mrs Dunleavy, 40, of Midmar Gardens, Morningside, decided to form a business with her brother Tony to try to introduce her books to schools across the UK. She said: "Daniel went to a mainstream nursery, then on to primary school, and everything went really well until he got to a certain stage. When he was asked to learn lots more vocabulary he got lost. And concepts like magic and dreams were very difficult for him to understand. "So I made books myself which only contained the first 800 words a child learns to write or say and we went from there." Mrs Dunleavy, who also has a two-year-old daughter called Nadia, and a son, Ethan, six, was keen to fuel Daniel's enthusiasm for reading so she made him the star of his own books. She said: "I developed a little family including a boy with Down's syndrome. "You never see children with mental problems in literature and I wanted one in mine." The family was called the Pops family - the first three letters standing for Plenty Of Potential, which Mrs Dunleavy says she saw in her own son. After writing the books, Mrs Dunleavy went on to make card and handcrafted wooden games, which also helped develop Daniel's reading. The simplicity of the books have made them useful for other children with learning disabilities, and Mrs Dunleavy has printed them in large type so they are easy to read. She said: "Any child with some kind of language impairment can benefit from these books. They're highly visible, a lot of fun, and really clear. "My other son Ethan refused to learn to read without them because he saw how much fun Daniel had." Mrs Dunleavy plans to use the profits to develop more ways of helping children with Down's syndrome and other learning disabilities improve their education. She said: "There are a lot of things that I want to develop to help children with numbers and writing. "We will run it as a business. Tony and I want to bring out lots more products. "However, we are committed to giving a percentage of the profits to the Down's Syndrome Educational Trust, as they helped me and it's really important they are able to keep putting out information for parents and teachers." This article: http://news.scotsman.com/scotland.cfm?id=2327622005 Last updated: 30-Nov-05 11:39 GMT A toast to Kirsty By DR NEIL HARROWER Kirsty is a beautiful, lively three-year-old. She is loving, kind and at times cheeky. Kirsty loves Noddy and The Tweenies but she is not so keen on Teletubbies. Kirsty is my daughter and she happens to have Down syndrome. Kirsty is of mixed parentage; her mother is a Malaysian whilst I am a Scottish doctor. For my wife, Dr Janet, and I, having Kirsty has been the most wonderful experience. She has brought us great joy and like any parents we could not now imagine life without her. Of course, when we were told that our as yet unborn child had Down syndrome, we were devastated. For me, the dreams of my child and her future were shattered. We were also told she had bowel and heart defects, and needed operations after birth. How would we cope? Were we strong enough to cope? For us there was no question of not allowing the pregnancy to proceed. It was just a matter of trying to prepare ourselves. Looking back, knowing Kirsty had Down syndrome prior to the delivery allowed us to come to terms with the situation and we had many special moments – feeling her kick, seeing her move on the many scans Janet had. We accepted her completely; this was our baby. When she was delivered by emergency C-section, she came out screaming and decidedly annoyed at being disturbed. She had her bowel operation that day and we took her home after 12 days. We were thrilled. We had a meeting with the community paediatrician who chatted about services and the importance of early intervention to maximise developmental potential. We saw the physiotherapist within Kirsty's second week and she visited us weekly in the early months. We had useful support from the Down Syndrome Association and we read books, some by professionals, some by parents. Our families were learning too, but mainly we were all getting to know Kirsty. Kirsty developed heart failure almost immediately and we syringed drugs into her twice daily until she grew a bit bigger. Her hole-in-the-heart was repaired at eight weeks and then we realised how poorly she had been because now we had a baby that had the energy to scream the house down. By the age of two, Kirsty was babbling away happily. We have been using Makaton signing to communicate with her since she was a baby. It is a great way of augmenting spoken language and it has been shown to speed up acquisition of language skills. Kirsty now has about 100 signs which she uses or recognises. She is not talking yet because of a hearing impairment but one day soon we know it will happen and when it does – just like when she took her first steps – we will cry and jump for joy at the same time. I still remember the cardiologist who told us that we were brave having our baby because of how difficult things would be as she got older. I can remember his exact words while I'm sure he would have forgotten his words almost immediately. My point is that professionals need to be careful what they say and how they say it. It really matters to parents and patients. Having a child with Down syndrome is not a disaster. Certainly it was a shock to discover the diagnosis but ultimately it really is not the end of the world. And as the parent of a child with a learning disability, I do not feel brave and I do not want anyone to feel sorry, either for me or more importantly my daughter. Of course, if someone were able to take away the extra chromosome that causes the syndrome, I would say yes, but this isn't going to happen. Kirsty has Down syndrome but this does not define her as a person. It is part of her but there is so much more to our little girl. Her personality shines through and she has achieved so much in her four years. She is loved dearly by our families and she was so happy visiting Malaysia for the first time last year, She especially loved being able to run around in her bare feet outside – something she is rarely able to do back home in Britain due to the climate. I am optimistic about her future. Kirsty, like most children with learning difficulties, will go to mainstream school and with the correct level of support, this will be a success. A recent issue of the Down syndrome Scotland magazine featured a teenager proudly holding his GCSE certificate. Many adults with Down syndrome live practically independent lives – working, socialising, having relationships. An individual with Down syndrome has the opportunity now to achieve so much more than even 10 years ago, and as the beliefs and prejudices of society are challenged, so much more may be possible in the future. I said at the beginning of this article that my dreams were shattered when I learnt that Kirsty had Down syndrome. Well, since then new dreams have emerged. I want Kirsty to be happy and to achieve her full potential. Only now I realise those dreams are identical to the ones I had before I knew about Kirsty's condition. After all, at the end of the day, all any of us want is for our children to be happy and achieve their full potential. Surge in genetic testing raises quality concerns WASHINGTON // As understanding of the human genome advances, genetic testing has become an increasingly popular - and lucrative - tool for diagnosing diseases. There are now more than 800 tests available, promising to assess everything from the risk of Down syndrome to susceptibility to breast cancer.

Yesterday, a Johns Hopkins University think tank called on the federal government to strengthen its industry oversight to ensure the quality of testing. The request by the Genetics and Public Policy Center stems from concerns that expectant parents wanting to learn whether their baby would be susceptible to cystic fibrosis or a healthy adult looking for an early diagnosis of Huntington's disease might make life-changing decisions or receive the wrong treatment based on shoddy test results. "How do you know that the lab doing your test is doing it the right way?" asked Gail H. Javitt, a policy analyst at the center. She argued that consumers can't know for sure because of a lack of regulation. Industry groups counter that genetic testing is sufficiently covered by current rules governing clinical testing and that any dubious practices, if they are taking place, would be unusual. The federal Centers for Medicare and Medicaid Services, which oversees testing laboratories, said it is drafting proposed rule changes, which it hopes to issue for public comment next year. Virtually unheard of two decades ago, genetic testing has flourished as scientists have learned more about the genetic components of diseases. It is a rapidly growing segment of the diagnostic industry, expected to exceed $1 billion in revenues in two years, according to market consultant Frost & Sullivan. The Pew Charitable Trusts funds the Genetics and Public Policy Center - part of Hopkins' Phoebe R. Berman Bioethics Institute - to prompt public debate about the policy implications of advances in genetics. Javitt said that women have complained about the accuracy of gender tests on fetuses and that one Web site purports to test for an addiction gene that doesn't, in fact, exist, though she could not point to specific examples of inaccurate test results and harmful effects. Part of the difficulty, she said, is that the government does not have a central database for collecting reports. The think tank called on the federal Medicare agency to add provisions specific to genetic testing to its rules governing clinical laboratories. Javitt said the changes are necessary because genetic testing uses some unique processes. In 1995, a federal task force began reviewing oversight of the industry. But little has been done since publication of proposals in 2000 that would have created standards for genetic testing. Public comment on the proposals was divided. Carolyn Jones, associate vice president of technology and regulatory affairs at the Advanced Medical Technology Association, said little more needs to be done because most genetic testing is already governed by current federal law and overseen by the Food and Drug Administration or the Centers for Medicare and Medicaid Services. Jones said both federal agencies ensure the quality of testing on the market. Officials at the American Clinical Laboratory Association, which represents 23 laboratory companies, said that their members obey strict ethical codes but that they would support "some tweaking" of the rules to guard against any faulty testing by nonmembers. They also would support specialized training for inspectors overseeing the labs. But, generally, they said existing oversight works well. "So it would be foolish to move away from it," said David Mongillo, vice president of policy and medical affairs. Judith Yost, director of laboratory services at the Medicare agency, said it had just received the Genetics and Public Policy Center's request for tightened oversight and had not had time to review it. Yost said her office has delayed making changes in genetic testing rules because it was occupied with a higher-priority review of general testing regulations, but she said it -intends to finish drafting proposals in the coming months.

Tongue Reduction Children with Down syndrome often have an open mouth and protruding tongue, though this appears to be worse in early childhood. The protruding tongue is due to a combination of several factors: a smaller than average oral cavity, enlargement of the portion of the tongue that lies near the tonsils, and a lack of muscle tone of the tongue. Tongue reduction, also called a "partial glossectomy," consists of removing a wedge of tongue to make it smaller and shorter. Some doctors recommend it for aesthetic reasons, as it helps the child keep his or her mouth closed while breathing and eating.(1,4,12) Certainly mouth-breathing can be detrimental, causing increased drooling and pushing forward the lower profile of the face and teeth. However, the most frequent motivation for this surgery seems to be the hope that it can improve speech intelligibility of the child with Down syndrome. There have been several reports of improved speech(1,3,4) but these were all subjective. Two studies using objective criteria found no improvement in intelligibility of speech following this surgery.(13,14) One study found that after partial glossectomy, speech was judged by observers as better when the subject was viewed talking as opposed to heard unseen on a tape(15), implying that the operation improved the aesthetics of speech. More studies are needed on the cause of speech difficulties in children with Down syndrome before this can become a well-accepted surgical procedure.

RED CHEEKS Red cheeks in the winter... Even if he is only outside for a short period of time. I tried the aquaphor and it seems to work much better than plain vaseline. A special and unexpected hero

Swift action by student with Down syndrome saves grandmother from choking on pills

By MAKI BECKER News Staff Reporter 12/3/2005

John Hickey/Buffalo News Therese Smith wonders what she would have done without the help of her grandson David Freund.

Therese Smith says she always will be grateful to her 20-year-old grandson for saving her life when she choked on her morning pills. But the 81-year-old Town of Tonawanda woman also marvels at how the young man, who was born with Down syndrome, knew how to administer the Heimlich maneuver.

"I was choking," she recalled of the harrowing incident, which occurred three weeks ago. "I was petrified. I didn't know what to do."

David Freund had just learned about two weeks earlier how to perform the lifesaving act from his father, Jerry Freund, who had heard about the Heimlich from a radio program. He decided his son should know, too, and practiced the moves with him.

At first David's mother, Patty Freund, also of the Town of Tonawanda, worried that her son wouldn't know when he should or shouldn't do the Heimlich and feared he might not know his strength and inadvertently hurt someone.

"What if he does it to someone who doesn't need it?" she remembered asking her former husband.

Patty Freund, the principal at St. Gregory the Great School in Amherst, said her son, the oldest of her three children, functions at an academic level of a first- or second-grader and his independence level is about that of a 10- or 11-year-old. He is a junior at Kenmore East High School.

"He's just a terrific person," she said. "He's a very loving and caring young man. He works real hard. He loves life."

On Nov. 11, she dropped her son off at his grandmother's house to spend the night so she could attend a Buffalo Sabres game with friends.

The next morning, as David Freund was getting cereal out for breakfast, Smith took her pills in the living room and started to choke.

"I couldn't get it to go up; I couldn't get it to go down," she recalled. "I have breathing difficulties, too. I didn't know what to do."

Her grandson said he knew something was wrong.

"I heard Grandma," he said.

Smith said her grandson approach her and "never said a word."

"He came right around and did the Heimlich maneuver," and the pill popped out.

The grandson said he performed the move exactly as his father taught him.

"I grab my hands and Grandma's stomach . . . and Grandma can breathe," he said.

Smith was amazed by her grandson's swift reaction and wonders what she would have done if he hadn't been there that morning. "It was just like he was supposed to do that," she said.

Patty Freund, meanwhile, was both stunned and proud.

"I was shocked that he would remember what to do - and relieved," she said. "He's very strong. My mother is very frail at 81. My fear was, "Did he break her rib because he's so strong?' But he didn't hurt her."

David Freund's action didn't go unnoticed.

His classmates at Kenmore East presented him a certificate for his heroics.

"People don't give persons with disabilities enough credit," Patty Freund said. "They don't give them opportunities to show themselves. But without asking and without prompting, he was able to figure out what to do, and I think that's incredible. People say he's retarded. But he's wise in his ways."

She also made sure to sit her son down and tell him what a remarkable thing he had done.

"I told him he was a hero," the mother said. "He was his grandma's hero."

Molecule Links Down Syndrome To Alzheimer's Researchers from the Institute of Psychiatry at King's College London have identified a molecule that could be targeted to treat the cognitive impairment in people with Down syndrome. The study, published in Archives of General Psychiatry found that people with Down syndrome have higher levels of myo-inositol in their brains than people without the condition, and that increased levels of this molecule are associated with reduced intellectual ability.

The researchers also suspect that high levels of myo-inositol could play a role in predisposing people with Down syndrome to early-onset Alzheimer's disease. The molecule is known to promote the formation of amyloid plaques - a hallmark of Alzheimer's.

Once they reach 40 years old, almost all people with Down syndrome show the characteristic brain formations of Alzheimer's disease, though they don't all go on to get dementia.

Professor Declan Murphy, who led the research said: 'We have shown in this study that adults with Down syndrome have a significantly higher concentration of myo-inositol in the hippocampal region of their brains, and this increase is associated with a reduced cognitive ability. We are now carrying out more studies to see if we can reduce the concentration of myo-inositol in the brains of people with Down's. We hope that if we can do this, it will be a new way of treating this disorder.'

One of the genes on chromosome 21 encodes a transporter that pumps the molecule myo-inositol into the brain. The increased levels of myo-inositol in the brains of people with Down syndrome could be explained by the fact that these people have an extra copy of the gene that makes this pump.

Notes: 1. The researchers used proton magnetic resonance spectroscopy to measure the concentrations of myo-inositol in the brains of 38 adults with Down syndrome and 42 controls.

2. The cognitive performance of the adults with Down syndrome was assessed using the Cambridge cognitive examination.

3. This press release is based on the following study: Hippocampal myo-inositol and cognitive ability in adults with Down Syndrome: an in vivo H-MRS study. Felix Beacher; Andy Simmons; Eileen Daly; Verinder Prasher; Claire Adams; Maria Luisa Margallo-Lana; Robin Morris; Simon Lovestone; Kieran Murphy; Declan GM Murphy. Archives of General Psychiatry Volume 63, No.12, December 2005

The Institute of Psychiatry The Institute of Psychiatry is part of King's College London and is closely affiliated to the South London and Maudsley NHS Trust. The Institute is a world-renowned centre for treatment, research and training in psychiatry and mental health. The organisation is involved in pioneering new and improved ways of understanding and treating mental illness and brain disease. Its wide-ranging field of work includes depression, eating disorders, brain imaging, genetics and psychosis.

The Institute was one of only two organisations in the field of psychiatry which received a five star rating in the 2001 Research Assessment Exercise conducted by the Higher Education Funding Council of England. The exercise, which is conducted every five years, enables the funding councils to distribute public funds for research selectively on the basis of quality.

King's College London King's College London is one of the two oldest and largest colleges of the University of London with over 13,800 undergraduate students and nearly 5,700 postgraduates in nine schools of study. It is a member of the Russell Group: a coalition of the UK's major research-based universities. Brotherly Love - Redskins WR Taylor Jacobs is inspired by a brother with Down syndrome

Washington Redskins Taylor Jacobs with his brother Evan, right, and father Harry. Courtesy of the Jacobs Family

By Lisa Altobelli

In his three-year NFL career, Redskins receiver Taylor Jacobs, nagged by minor injuries, has yet to become the star he was as a Florida Gator. Jacobs, though, has stayed confident. He says he learned to keep an even keel and a sense of perspective from his younger brother, Evan, who has Down syndrome. "If Coach Gibbs or a bum off the street came up to him, he would treat them both exactly the same way. I love that," says Taylor. "Or if I had the best game or the worst game of my life, he's just as excited and will hug me just as hard afterward. It's unconditional love."

Taylor, 24, and Evan, who's 21 but at the intellectual level of a seven-year-old, grew up on a 25-acre farm near Tallahassee, Fla., and spent time fishing, swimming and riding horses. "We like to go bowling together now," says Taylor. "There's no one I have more fun with than Evan. I'm protective of him. Growing up, he needed a lot of attention. I learned patience."

Jacobs's mother, Sandy, then a special education teacher, had met his dad, Harry, an assistant principal, in 1976 when they were helping out with the Special Olympics. The night Evan was born, Sandy says, Harry was wearing a Special Olympics T-shirt. "I guess we were destined to have Evan," says Sandy. "It was a family joke that we would have one kid in the Olympics and the other in the Special Olympics." Evan fulfilled half that prophecy, winning gold in the backstroke in Florida's Special Olympics this year.

Taylor's family connection is why, despite being MVP of the 2002 Orange Bowl and being urged by advisers to jump to the NFL, he stayed in Florida as a senior. "I just didn't want to leave yet," he says. "Our family doesn't click unless we're all together." They're still close. Last month Sandy and Evan came to live with Taylor near D.C. and will stay for the rest of the year. Right after their arrival Taylor had his best game, making four catches in a 23-17 loss to the Chargers. Of course, even if he'd gone without a reception, Evan would have welcomed him home with a hug.

Issue date: December 12, 2005

Down syndrome barriers falling College opportunities expand for disabled

By Bonnie Miller Rubin and Grace Aduroja Tribune staff reporters Published December 11, 2005 This story contains corrected material, published Dec. 12, 2005.

By anyone's measure, Bridget Brown has had a successful high school career. At Hinsdale South (the name of the school as published has been corrected here and in a subsequent reference in this text), she was on the speech team, snagged roles in two plays and never missed a dance.

Now, like so many of her peers, she is focused on continuing her education. But unlike them, she was born with Down syndrome.

"I love to learn and I don't want to stop," said Brown, 19, who graduated last spring and still proudly wears her letter jacket. "That's why people go on to college."

In the past, the educational road for students like Brown came to an abrupt halt after high school. But in recent years, young adults with developmental disabilities are finding a burst of opportunities--from Maine to Elmhurst--that once would have been unthinkable.

What sets these programs apart is the focus on academics and campus life. While the curriculum may be modified and practical skills--resumes and job interviewing, for example--are usually part of the mix, the choices are far more challenging than the menial labor and sheltered workshops of an earlier era.

"This population is desperate for better," said Cynthia Johnson, director of a program at Washington state's Bellevue Community College, which offers an associate's degree to students with Down syndrome or other cognitive impairments.

Johnson compared the inequities to "the colored schools of the 1950s," when African-American children were put in separate classes and not expected to learn. "This is a civil rights issue and a moral issue," she said. "Its time has come."

Just a year ago, only 35 programs existed for these students. Now there are more than 90 at two- and four-year colleges, according to the U.S. Department of Education, including one at Elmhurst College, which began in September and is touted as the first of its kind in Illinois.

Each program is different. Though the courses are demanding, they are taught differently. Less "chalk and talk," more hands-on experiences and technology, such as voice-activated computers.

"This isn't some watered-down curriculum," Johnson said. "We push our students somewhere between frustrating and challenging ... that's where true learning happens."

In addition to scholastics, some of the programs are residential and include cooking and money-management skills, while others are geared to commuters. Most students receive certificates. Some programs promise a standard degree; all offer a hefty dose of self-esteem.

Critics fear goals too high

But a handful of experts fear that the new academic emphasis is setting students up for failure.

The major factor driving the change: The Individuals with Disabilities Education Act of 1975, the federal law that became known as "mainstreaming" in K-12 schools. And "No Child Left Behind"--President Bush's sweeping educational reforms that hold districts accountable for the performance of all students--only strengthened the mandate.

Research shows that students with developmental disabilities--those who in the past were called mentally retarded--are more likely to hold a job, have friends and live independently if they get into a post-secondary program.

But a more typical scenario has been a world of low-wage employment, such as fast-food or custodial jobs. For parents who have advocated for their disabled children since preschool, that's unacceptable.

"This is a unique experiment that is coming from the bottom up," said Troy Justesen of the U.S. Department of Education.

Steve Riggio and his wife felt so strongly about continuing academics for their 17-year-old daughter born with Down syndrome that they recently donated $250,000 to develop post-secondary models at two New Jersey colleges. They hope the programs will be replicated nationally. "It's the next frontier," Riggio said.

The availability of programs after high school was like "going from a cruise ship to a dinghy," he said. "My daughter had the benefit of a wonderfully inclusive educational environment," said Riggio, chief executive officer of Barnes & Noble Inc. "Why should that end?"

The program at Elmhurst College, called Elmhurst Life Skills Academy or ELSA, allows disabled students to get a four-year academic experience with all the social trappings of campus life. The customized curriculum is sprinkled with everything from literature to life-skills courses.

The program's 11 students pay regular tuition rates of about $20,000 a year but will receive a certificate with a transcript instead of a diploma at commencement.

They're as likely to participate in theater, the bowling team or multicultural club as any other undergraduate. But unlike other students, fewer than 10 percent of students with developmental disabilities go on to college.

"The hard, stark ugly reality is that current statistics equal unemployment, poverty and isolation," said Madeline Will of the National Down Syndrome Society.

Bridget Brown's prospects are brighter. The Darien resident is currently transitioning from high school in an early childhood education program at the Technology Center of DuPage, where she takes some math classes and is enrolled in the child development program. Her strengths, she says, include being helpful and a good public speaker. For the last five years, she has run her own Individualized Education Plan meeting--the blueprint for a student's classes and services.

"I am really good at advocating for myself," she said with a broad smile. "Hopefully, the rest of my life will be as fun and exciting as high school."

Last month, she toured Elmhurst College. To Brown, attending the ELSA program would be her dream.

She is not afraid to "ask for help when I need it and try new things.... I'd even try living in the dorm if I could do it with a friend."

Student living his dream

ELSA freshman Patrick Hartmann already is living his dream. Not only is the River Forest resident attending a four-year school--where his course load includes math, science, technology and English--but the picturesque suburban campus reminds him of the East Coast school where his twin brother is enrolled.

"It looks similar and the people are the same," said Hartmann, 21, who was born with spina bifida and wants to work with computers. "I like being able to be in a four-year college."

Hartmann yearned to continue his education after graduating from Oak Park and River Forest High School, but his options were limited.

After trying several local schools, where both helpful instructors and a social network were elusive, he has found his niche at Elmhurst. There, he has plenty of assistance and has a group of friends who regularly trade barbs in the school cafeteria.

ELSA coordinator Nancy Cheeseman would like to see the program go to another level, with on-campus housing similar to the University of Southern Maine and George Mason University. "Our goal is to offer as much of a college experience as possible," said Cheeseman, who has been fielding calls from excited parents all over the country.

But some critics question the usefulness of degree-granting programs, saying they saddle disabled students with unrealistic expectations and provide them with skills that don't necessarily lead to employment or independent living.

"A degree is not a life. A degree is an accumulation of academic credits, but other parts of the person need to be considered," said Carol Burns, director of the PACE program, a course for disabled students at National-Lewis University in Evanston. "The opposition would say that's not inclusion."

The debate has reached Justesen, head of special education for the Department of Education, who takes umbrage at critics who say such programs are setting up students for a fall. He points out that plenty of young adults enter college with improbable hopes and struggle to find a job after graduation.

"When a [non-disabled] 13-year-old boy says he wants to be a football player or a rock star, no one says `Oh you can't do that. Oh, it's not realistic,'" Justesen said. "What's wrong with allowing children with intellectual disabilities to experiment with what they want to be?"

The federal government isn't promoting these new programs, "but we're watching it," he said. "It's definitely at the leading edge."

----------

brubin@tribune.com

gaduroja@tribune.com Music therapy brings progress with the beat of a drum

A year ago, 3-year-old Anthony Triano could not walk, feed himself, dress himself or go to the potty alone. Anthony has Down syndrome and he learns things a little more slowly than other children.

But with the help of a drumbeat and a song, Anthony can now do all of those tasks.

"Music engages a different part of the brain," said Colleen Klym, a music therapist. "So while one part of the brain might not be able to process things, the part that processes music might be more advanced in these kids who are developmentally disabled."

Klym, 27, works with children like Anthony, as well as the elderly who have lost speech or motor functions. Through her company, Mountain Music Therapy, she works at several area schools and nursing homes and provides private sessions.

Anthony took his first steps with Colleen through music, said his mother, Shauna Triano.

She had been working with Anthony for more than a year to teach him to thread beads on a string, considered a developmental milestone.

He got it within five minutes during music therapy session last week. Other tasks, like using a spoon, have also come more easily, his parents said.

With standard therapies, Anthony would make some progress, his father Dave Triano said, "but the difference when the therapies were integrated with music was stunning."

Music therapy is an established health care profession which requires 4½ years of training plus a credential, according to the American Music Therapy Association at www.musictherapy.org.

The profession began in the hospitals of World Wars I and II, where doctors noticed music's benefit to patients' well-being. The first music therapy degree was awarded 51 years ago at Michigan State University.

The therapy was featured in the Nov. 14 edition of Time magazine for its alleged benefits to patients with Alzheimer's and dementia.

Despite this history, Klym said she still senses skepticism from people and feels she has to prove it is valid.

But parents like the Trianos have left their doubt behind.

"It's amazing," Shauna Triano said. "I keep thinking it's not going to work and it works. Every time she does something with him, he's able to do it."

Klym is not a performer. Rather, she uses several instruments to teach speech and movement, and improve social skills through an interactive environment, where the patient participates to his or her best ability.

With the beat of a drum or guitar, Klym breaks down the steps to a certain task like putting on pants or making a sentence, and might come up with a song to match.

Lynne Tara wishes she knew about music therapy a long time ago, when her 15-year-old daughter Katelyn, who also has Down syndrome, was an infant.

When Katelyn started therapy last year with Klym, she could only say a couple of words at a time. Now, she is forming sentences for the first time in her life, according to her mother.

"We had not seen much improvement at all until this came along," Tara said. "She works hard with these kids. There's so many children who have speech delay who could benefit from this."

Klym grew up in an Irish home with music all around her. In tough times, she always turned to music to help her get through, she said.

"I feel like I've been blessed with the gift of music. And I'm honored to work with these people and see them learn and feel good and be touched by music like I was touched by music.

"The music speaks for itself and it does work."

For more information, call Klym at (530) 659-7438 Special students bound for college By BONNIE MILLER RUBIN and GRACE ADUROJA KNIGHT RIDDER NEWSPAPERS CHICAGO - By anyone’s measure, Bridget Brown has had a successful high-school career. At Hinsdale Central High School in Illinois, she was on the speech team, snagged roles in two plays and never missed a dance.

Now, like so many of her peers, she is focused on continuing her education. But unlike them, she was born with Down syndrome.

‘‘I love to learn and I don’t want to stop,’’ said Brown, 19, who graduated last spring and still proudly wears her letter jacket. ‘‘That’s why people go on to college.’’

In the past, the educational road for students like Brown came to an abrupt halt after high school. But in recent years, young adults with developmental disabilities are finding a burst of opportunities - from Maine to Elmhurst College in Elmhurst, Ill. - that once would have been unthinkable.

What sets these programs apart is the focus on academics and campus life. While the curriculum may be modified and practical skills - resumes and job interviewing, for example - are usually part of the mix, the choices are far more challenging than the menial labor and sheltered workshops of an earlier era.

‘‘This population is desperate for better,’’ said Cynthia Johnson, director of a program at Washington state’s Bellevue Community College, which offers an associate degree to students with Down syndrome or other cognitive impairments.

Johnson compared the inequities to ‘‘the ‘colored’ schools of the 1950s,’’ when African-American children were put in separate classes and not expected to learn. ‘‘This is a civil rights issue and a moral issue,’’ she said. ‘‘Its time has come.’’

Just a year ago, only 35 programs existed for these students. Now there are more than 90 at two- and four-year colleges, according to the U.S. Department of Education, including one at Elmhurst College, which began in September and is touted as the first of its kind in Illinois.

Each program is different. Though the courses are demanding, they are taught differently. Less ‘‘chalk and talk,’’ more hands-on experiences and technology, such as voice-activated computers.

‘‘This isn’t some watered-down curriculum,’’ Johnson said. ‘‘We push our students somewhere between frustrating and challenging . . . that’s where true learning happens.’’

In addition to scholastics, some of the programs are residential and include cooking and money-management skills, while others are geared to commuters. Most students receive certificates. Some programs promise a standard degree; all offer a hefty dose of self-esteem.

But a handful of experts fear that the new academic emphasis is setting students up for failure.

The major factor driving the change: The Individuals with Disabilities Education Act of 1975, the federal law that became known as ‘‘mainstreaming’’ in K-12 schools. And ‘‘No Child Left Behind’’ - President Bush’s sweeping educational reforms that hold districts accountable for the performance of all students - only strengthened the mandate.

Research shows that students with developmental disabilities - those who in the past were called mentally retarded - are more likely to hold a job, have friends and live independently if they get into a post-secondary program.

But a more typical scenario has been a world of low-wage employment, such as fast-food or custodial jobs. For parents who have advocated for their disabled children since preschool, that’s unacceptable.

‘‘This is a unique experiment that is coming from the bottom up,’’ said Troy Justesen of the U.S. Department of Education.

Steve Riggio and his wife felt so strongly about continuing academics for their 17-year-old daughter born with Down syndrome that they recently donated $250,000 to develop post-secondary models at two New Jersey colleges. They hope the programs will be replicated nationally. ‘‘It’s the next frontier,’’ Riggio said.

The availability of programs after high school was like ‘‘going from a cruise ship to a dinghy,’’ he said. ‘‘My daughter had the benefit of a wonderfully inclusive educational environment. Why should that end?’’

The program at Elmhurst College, called Elmhurst Life Skills Academy or ELSA, allows disabled students to get a four-year academic experience with all the social trappings of campus life. The customized curriculum is sprinkled with everything from literature to life-skills courses.

The program’s 11 students pay regular tuition rates of about $20,000 a year but will receive a certificate with a transcript instead of a diploma at commencement.

They’re as likely to participate in theater, the bowling team or multicultural club as any other undergraduate. But unlike other students, fewer than 10 percent of students with developmental disabilities go on to college.

‘‘The hard, stark ugly reality is that current statistics equal unemployment, poverty and isolation,’’ said Madeline Will of the National Down Syndrome Society.

Bridget Brown’s prospects are brighter. The Darien resident is currently transitioning from high school in an early childhood education program at the Technology Center of DuPage, where she takes some math classes and is enrolled in the child development program. Her strengths, she says, include being helpful and a good public speaker. For the last five years, she has run her own Individualized Education Plan meeting - the blueprint for a student’s classes and services.

‘‘I am really good at advocating for myself,’’ she said with a broad smile. ‘‘Hopefully, the rest of my life will be as fun and exciting as high school.’’

Last month, she toured Elmhurst College. To Brown, attending the ELSA program would be her dream.

She is not afraid to ‘‘ask for help when I need it and try new things. . . . I’d even try living in the dorm if I could do it with a friend.’’

ELSA coordinator Nancy Cheeseman would like to see the program go to another level, with on-campus housing similar to the University of Southern Maine and George Mason University. ‘‘Our goal is to offer as much of a college experience as possible,’’ said Cheeseman, who has been fielding calls from excited parents all over the country.

But some critics question the usefulness of degree-granting programs, saying they saddle disabled students with unrealistic expectations and provide them with skills that don’t necessarily lead to employment or independent living. Sign Language Helps Kids with Down Syndrome

Kyle Sherbenske is learning to talk. But Kyle has down syndrome and often kids like Kyle have speech problems and delays. Kyle`s not even two and already he`s learning sign language.

Kyle`s Mom, Angie Scherbenske, says Kyle is catching on quickly.

"He knows "more", we`re working on `milk`, he knows `no` but he really likes `more`," says Angie.

Kyle and his family started watching sign language videos a few months ago, on the advice of other parents with downs kids. Roxane Romanick`s daughter Elizabeth is now six years old. She signs only for fun now. But when she was younger, sign language was an important communication tool. Her mom says by the time Elizabeth was three she had over a hundred signs. It was those signs that convinced Roxane of the benefits of sign language for all kids.

"It helps them learn to maintain eye contact and increase the ability to communicate and encourages earlier speech," says Roxane.

It`s a benefit Angie has seen in Kyle and also in her five year old daughter Ashley.

"Ashley is the best signer in the house," says Angie.

Ashely`s enthusiasm is contagious and has rubbed off on her parents, her friends, and most importantly her little brother.

Roxanne says many parents worry if they teach their downs child to use sign language, they will never learn to speak. She says most research shows that sign language actually does more good than harm and kids with down syndrome who learn at least some sign language start talking earlier. Those who left their mark 2005 They all lived their passions. A Nobel Prize-winning-chemist. A toothpaste researcher. A beermaker. An artist with Down syndrome. And a champion fog-caller. There were also the community activists, the politicians, the educators and the writers. They were famous, or they were everyday people who strove to improve life. JUDITH SCOTT was a self-taught Berkeley artist known for her intricate and mysterious fiber art sculptures. Her work was all the more remarkable because she had Down syndrome.

Ms. Scott's sculptures, noted for their elemental quality, bursts of color and singular forms, have been shown in galleries and museums around the world, and sell for as much as $10, 000.

Ms. Scott died March 14 of natural causes at her sister's home in Placer County. She was 61.

Families find hope at GiGi's Playhouse Parents of children with Down syndrome get comfort, answers at suburban facility

By Mary Ann Fergus Tribune staff reporter Published January 9, 2006

Desperate to find hope after learning that her newborn daughter had Down syndrome, Nancy Gianni began trailing any adult she spotted with a special-needs child to ask them for guidance.

"I needed a place where I could network with people," said Gianni, who feared she was becoming a pest. "I wanted to fill that void when you feel helpless."

With the support of other parents, Gianni opened GiGi's Playhouse in a Hoffman Estates strip mall more than two years ago, establishing what experts say is the first such center in the nation for families and their children. The playhouse is named after her daughter, now 3.

The center organizes play groups, including Hispanic and Polish family groups, and provides meeting space and programs such as one that teaches children how to read. Nearly 1,000 families are on the playhouse mailing list. The playhouse primarily assists children and teenagers, but young adults meet there once a month for movies, karaoke and other activities.

Its success spawned GiGi's Playhouse Too in Plainfield last year, and Gianni has talked to parents across the U.S. who want to use the center as a prototype.

In the past, researchers had estimated that Down syndrome occurs about once for every 800 to 1,000 live births.

But the number of children with the syndrome appears to be higher than previously thought, according to a U.S. Centers for Disease Control and Prevention report released last week that says there's one case for every 733 births.

Gianni, 39, remembers how three doctors explained the diagnosis shortly after GiGi's birth. At least one of them looked petrified, she said, and although they did a thorough job of discussing the medical facts, they offered little in terms of hope or real-life experiences.

One of those doctors, Dr. Ravindranath Reddy, a pediatrician and neonatologist, said medical school never taught him how to share with parents the diagnosis that their child has a disability.

But Gianni and other mothers at the playhouse have helped fill the void, he said. Among other things, they visit hospitals to share their birth stories and experiences raising children with Down syndrome. Their aim is to offer health-care professionals the information they need to give parents a more positive take on a child's future.

Last week, Reddy congratulated a couple on the birth of their son as he also told them the baby has Down syndrome.

"I said everybody has their own potential to develop, and we don't know what he's going to achieve. Be happy and do the best you can," Reddy said.

Though Gianni and her husband, Paul, a trader at the Chicago Mercantile Exchange, initially spent some of their own money to open the playhouse, donations, plus an annual holiday raffle, have covered the center's $95,000 annual budget. The budget includes salaries for a part-time administrator and part-time literacy tutor, who also donate hours along with other volunteers. Gianni logs about 40 hours a week without pay.

The South Barrington mother takes calls and responds to e-mails from parents who have just learned their newborns have Down syndrome, often crying with them as they share their stories.

"I get goose bumps every time," she said. "It all comes back--the fear and uncertainty."

She also has talked to a few pregnant women trying to decide whether to have an abortion. They want to know what life might be like for a child with the genetic condition. Gianni answers their questions and tells the women she will never judge their decision.

The first thing visitors notice when they enter the playhouse is the many photographs of smiling children.

On a recent weekday, a group of preschoolers took turns throwing blocks, reading and dancing near a brightly painted castle mural and stage where toddlers to young adults enjoy performing.

Kristen Rumphol of Palatine visits with Brandon, now 3 months old. Doctors and others had reacted to Brandon's diagnosis with words of sympathy that often made the new mother feel worse. But since coming to the playhouse, she said, she has been transformed.

"The first time I came here is the first time that anyone told me congratulations," she said.

The words brought tears of happiness to her eyes.

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READER CONNECTION

Would you like to learn more about Gigi's Playhouse? Information on Down syndrome

A schedule of daily events at Gigi's Playhouse, 1069 W. Golf Rd., Hoffman Estates, can be found by calling 847-885-PLAY or visiting its Web site, www.gigisplayhouse.com.

Developmentally Disabled Have New Options for Higher Education Academic programs for students with Down syndrome are on the rise in U.S.

By Lauren Monsen Washington File Staff Writer

Washington -- Over the past two decades, many public schools in the United States have begun integrating developmentally disabled children into regular classroom settings with their nondisabled peers: a trend known as "mainstreaming."

The result of this trend, say analysts, has been greater public acceptance of the disabled -- and a greater understanding of what mentally handicapped students can achieve in terms of academic performance. While advocates for the disabled recognize that a student's limitations are dictated by the degree of disability involved, and that only certain levels of disability can be accommodated within the public-school system, most argue that mainstreaming initiatives often have helped these children to surpass society's expectations for the intellectually impaired.

Until recently, it was widely assumed that the developmentally disabled -- such as those with Down syndrome, a chromosomal anomaly that produces various degrees of mental retardation -- had no realistic hope of formal education beyond high school.

Until now, that is.

Thanks in large part to the determined efforts of advocates for disabled students, several U.S. colleges and universities are implementing programs to offer educational opportunities for mentally handicapped secondary school graduates. The curriculum of each program may vary, but most have a dual focus on academics and on life skills that will prepare students to live more independently. One such program was introduced at George Mason University (GMU) in Fairfax, Virginia, during the 2002-2003 school year; the GMU program is currently in its fourth year of operation.

GMU's "Learning Into Future Environments" (LIFE) program is administered by the Helen A. Kellar Institute for Human Disabilities, which is part of the university's College of Education and Human Development. Claire Talbert, coordinator of the LIFE program, explained in a January 9 interview that LIFE students are in the 18- to 22-year-old age range when they first enroll, and they attend classes on the GMU campus, which provides them with a college environment designed to enhance their educational experience.

Eligibility for the LIFE program is determined by a number of factors. During the initial phase of the application process, said Talbert, program administrators interview prospective students and their families. Next, prospective students "spend the day with us to see how they fit in with the program, and then, decisions are made" about which applicants to accept, she said.

SIX APPLICANTS PER YEAR CHOSEN FOR GMU PROGRAM

School officials assess which students are most likely to profit from the LIFE program, based on an applicant's learning needs and desire to enroll -- as well as the ability of the LIFE program to meet the applicant's needs and goals, and the applicant's perceived ability to achieve his or her goals within the context of the program. Six applicants are accepted for each new academic year.

"There are three components to the program: literacy, which encompasses reading, writing, math and technology; independent living skills, including cooking, menu planning, healthy eating, doing laundry, using public transportation, balancing a checkbook -- anything that would help [students] live more independently; and employability training," which imparts skills that assist students in finding a job, said Talbert.

In addition, nondisabled students may serve as mentors to students enrolled in the LIFE program. Regular interaction between LIFE students and the rest of GMU's student body promotes a sense of inclusion in campus activities, so that mentally handicapped students benefit socially as well as academically from their post-secondary scholastic experience.

Although the four-year LIFE program does not award academic degrees, students who successfully complete the program receive certificates, and Talbot said that a two-year post-graduate program currently is being developed.

GMU is among the growing number of U.S. schools that have started to offer expanded educational opportunities for the mentally handicapped. A December 2005 Chicago Tribune article said more than 90 programs at two- and four-year colleges have been launched for students with developmental disabilities.

Tuition for such programs can be high, sometimes rivaling the cost of a traditional degree program. Also, critics express fears that these programs can create unrealistic expectations for developmentally disabled students and their families, but advocates for the disabled claim that post-secondary programs are the next logical step for students who have been mainstreamed successfully through their high-school years. A modified curriculum that accommodates a mix of academics, life skills, and vocational training is needed to help the mentally handicapped reach their full potential, advocates argue.

More information on the Helen Kellar Institute is available on the institute's Web site. Horns - Using Simple Tools in Oral-Motor Therapy

If horns had not been invented by ancient civilizations, surely speech-language pathologists would have had to invent them. From didgeridoos to trumpets, the controlled use of wind for the production of phrased sound anticipates oral-motor therapy in more than tidy, metaphoric allusion. To some it is hard to believe that a simple toy horn could be something other than a plaything; but in the realm of speech-language practitioners, small, unsophisticated horns are effective therapy tools. These devices can be used to correct articulation disorders, deal with deficits in phonation and breath control, work with cleft palate repairs, teach velopharyngeal functions, and improve speech clarity. When a muscle cannot perform a specific skill, such as lip closure, that muscle needs exercise. This is the work of oral-motor therapy: to normalize oral musculature through exercise. Traditional speech therapy without the proper muscle control cannot be completely successful. However, it is equally important to remember that oral-motor therapy is an adjunct to traditional therapy, not a replacement. When the targeted muscles do normalize, the introduction of traditional methods such as auditory feedback or phonological processing approaches attain measurably higher degrees of success. Using toy horns as therapy devices to achieve that goal is powerful and fun. In the last 15 years I have experimented with more than 80 horn-type devices to identify which ones work on targeted muscles and which ones can be used on an abdominal airflow hierarchy. That work has evolved into a program that includes 14 progressively complex horns. This hierarchy works on designated goals such as correcting an interdental lisp, improving lip rounding, and working on specific phonemes. It deals with the development of muscles in three areas in this order: phonation through the abdominal muscles, resonation through muscles of the velum, and articulation via the muscles in the jaw, lips and tongue. There are two broad patient categories. Some clients start at the first horn and work to complete the entire hierarchy, while others have specific needs that can be treated by the use of individual horns to address their personal speech deficits. Those clients who lack grading in only the jaw, tongue or lip are the least impaired. Those who have deficiencies in velopharyngeal closure must address those defects before the jaw, tongue or lip issues are addressed. Those with abdominal deficiencies are, for the purposes of this discussion, considered the most severely impaired. Clients with more severe problems start with the first horn and successively master each one until they reach the final horn. This approach would be suitable for clients with cerebral palsy or Down syndrome and could take as long as two years. Clients who are less severely impaired may start with a specific horn at a predetermined point within the hierarchy to address specific goals. This gives the clinician a methodic, scientific way to create an individualized program for each client that often is completed in four to five months. These exercises can be used by clients of all abilities and age groups. I have used them with clients as young as 12 months and as old as 104. The horns are organized by goals and the muscle movement required to produce phonemes. Each horn incrementally becomes a degree harder when working in the hierarchy, challenging the client's achievements in a rewarding way. They are suitable for schools and other group therapy environments. Horns are also an important part of a drooling program because they address awareness of lips and maintenance of lip closure and teach retraction of saliva back over the tongue, much of which can be taught without cognitive cooperation. With horn therapy even our clients with major deficits make significant therapeutic progress. At the outset of the program, the therapist introduces a target horn and determines the highest number of repetitions that can be achieved in rapid succession at one time without a break. The goal with each horn is to achieve 25 successive repetitions, taking a small breath between each blow. If the maximum number of repetitions produced is less than the targeted goal, the therapist stops and assigns the attained number as homework. These exercises should be practiced at least twice a week with the therapist and at least once a day at home. As each horn is mastered, the therapist introduces either the next horn in the hierarchy or the next horn appropriate to the client's goals. Parents and caregivers assist the client in practicing homework. It is vitally important that they be assigned a meaningful role in treatment. Many of our young patients who are cognitively impaired can barely interact with their parents. Involvement in this homework gives them an easily fulfilled assignment that provides immediate emotional and therapeutic feedback for the child and the parent/caregiver. A brief review of a few specific horns will help in understanding their interaction in the hierarchy and some of their unique attributes. The first horn is so easy that it requires almost no abdominal constriction and no constriction of the obicularis oris muscle. It produces sounds almost from the client's vegetative breathing. This horn teaches jaw elevation with minimal lip closure as the client learns to volitionally control airflow. Outside of the hierarchy, it improves the production of the sounds /m/, /b/, and /p/. The second horn is a harmonica-like device that teaches further lip closure and the skill of projecting exhalation in a frontal manner. By gradually covering up the side holes until only the central holes remain exposed, clients can feel--and hear--the redirecting of airflow to the very front of the lips. Used alone, this instrument works on the standard production of /s/ by assisting in the correction of a lateral lisp. The third implement is similar to a slide whistle. It requires more than elementary lip closure and teaches first-level lip rounding for the production of /w/, /oo/, /sh/, /ch/, and /j/. The fourth horn has a flat mouthpiece and must be blown for a one- to two-second duration. These variations increase the abdominal and lip closure difficulty and further the work on production of /m/, /b/, and/p/ and the prolongation of oral language statements. The fifth, sixth and seventh horns address additional prolongation of sound, bilabial sounds, oral-tactile defensiveness, and low jaw sounds required for vowels and open-mouth consonants. Horns eight and nine work on bilabial sounds and tongue retraction. The latter is also an important tool for clients working on oral-nasal contrasts, especially after cleft palate repair. Horns 10 through 14 work on intensifying the degree of duration of exhalation, lip rounding, lip protrusion, tongue retraction/release and abdominal constriction/tension. They specifically target the correction of the interdental lisp. Horns are fun, and fun is a motivator. Part of the success of this therapeutic approach is that this is work--difficult work for many clients. However, the work is disguised as a toy, and the fun clients have repetitively using the toy is exercise. Recreating a muscle movement through the element of repetition is our goal with each horn used. Certain rules must be followed: * The client's feet must rest firmly on the floor or other stabilizing surface, and the body should ideally achieve 90-degree angles in the pelvis, knees and ankles. * Hold the horn and make sure there is no biting. * Remove the horn from the client's mouth after each blow. The first rule does not vary, whether clients are in a chair, wheelchair or prone-stander or whether the therapist is working with them over therapy balls or bolsters. Stabilization in the body allows for mobility in the mouth. Consult with a physical or occupational therapist to achieve maximal positioning. This postural work has been traditionally in their realm. However, for the purposes of these exercises, it is now ours, too. During all therapy sessions and homework with a client, it is important to maintain this maximal posture. The second rule is needed because the horns will become toys and rendered ineffective for therapy if they are not used correctly. If a therapist simply hands a horn to a child, the client's first reaction will be to put it in the mouth and bite on it. Biting eliminates the therapeutic jaw-lip-tongue dissociation component of horn therapy. Beginning with the ninth horn, clients who are cognitively involved with the therapy and show they are capable of following directions can hold the horns by themselves while the therapist continues to monitor posture and placement. For older children and adults, therapists should use their discretion based on diagnosis and cognitive ability. Finally, therapists must remove the horn from the client's mouth after each blow. This therapy requires repetition. Muscle movement is recreated over and over again to develop strength/muscle memory. The goal with each horn is to be able to blow, with controlled exhalation, successive repetitions and for the jaw, lips and tongue to successfully reposition prior to each blow. The client populations that benefit from these techniques are diverse. Clients who have a diagnosis of apraxia/dyspraxia can use horn therapy to learn motor-planning movements for the eventual development of speech clarity. These methods sidestep their deficiencies. The stimulus-response technique of the horn creates the muscle action allowing the muscle to take that movement into memory. Clinicians can put their hand on a client's stomach and push inward during an exhalation, getting the air to go through the horn and produce sound. This gives the client a new awareness that what happens in their abdomen creates sound from their mouth. Clients who are cognitively impaired gain this same awareness devoid of verbal instruction. Many clients of various diagnoses have insufficient ability to contract and grade their abdominal muscles. They must learn to tighten them in order to control their exhalation. Low tone in their abdominal muscles produces insufficient amounts of air that only support single words or short phrases. Horn therapy assists to accomplish this without using compensatory skeletal movements such as shoulder elevation and/or whole body tightening. These are just two categories of clients whose problems have not been adequately addressed by traditional speech therapy. The result has been a significant inhibition of the clients' ability to express themselves at their cognitive level. When the horn therapy program is completed, clients have the strength and mobility to start traditional articulation therapies. And they got to make a little music along the way. Sara Rosenfield-Johnson is owner and director of Innovative Therapists International, 3434 E. Kleindale Rd., Ste. F, Tucson, AZ 85716; (520) 795-8544; 888-529-2879; e-mail: oromotorsp@aol.com; or on-lind: www.oromotorsp.com. Diana Manning is a freelance writer.

---- Omega-3s Previous trials have shown that omega-3s can improve memory, mood, concentration and behaviour. Researchers in the UK will supplement 38 pupils, aged 10 to 16, with the oils for six months and closely follow their behaviour.

The children have problems like attention deficit disorder (ADD), attention deficit hyperactivity disorder (ADHD), autism, dyslexia, Asperger's syndrome and pervasive development disorder.

Some of them have already been prescribed drugs like Ritalin, used to treat ADD and ADHD, but which also has side effects like decreased appetite and insomnia. The new study will also examine whether fish oil supplements can help reduce the side effects of this medication.

The findings will be analysed by Dr Madeline Portwood, a senior educational psychologist working for Durham county council.

The information provided is considered general medical information for educational purposes and is not a substitute for the advice of your physician. If you think that your child needs medical attention, please go to or contact your physician or nearest health care provider.

  resources information on down syndrome

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