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The following are 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 echo-cardiogram is recommended. Adolescents and young adults with no known intracardiac disease can develop valve dysfunction and should be evaluated by clinical examination at age 18, especially prior to dental or surgical procedures. [See References, Section G, Geggel RL, et al.] There is a 57% incidence of mitral valve prolapse and approximately a 10% risk of aortic regurgitation. The finding of a click or murmur should be followed by an echocardiogram. Susceptible individuals will need SBE prophylaxis.

Dental Care: The orofacial features of individuals with DS contribute to a variety of potential problems in regards to dental care. For example, the eruption of teeth is usually delayed and often occurs in an unusual order. Primary and permanent teeth may be missing. Small or misshapen teeth are found, and severe crowding can occur because of the small oral cavity. Orthodontic treatment may be necessary. Mouth breathing, related to the small nasal airway, contributes to fissured tongue and lips. Periodontal disease can occur as early as the teen years, and routine brushing combined with dental visits every 6 months play a key role in preventing tooth loss.

Ears/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 at birth, if possible, or within the first 3months of life. The most common method in widespread 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.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: The midfacial hypoplasia (under-development) that is characteristic of individuals with DS leads to increased difficulty with narrow airways. The narrow nares (nostrils) manifest themselves as noisy breathing in the infant; narrow openings to paranasal sinuses predisposes children to frequent sinusitus/naso-phayngitis. These infections, manifested by purulent nasal discharge, should be aggressively treated. The narrow trachea can result in recurrent croup. In addition, infants with DS have an increased likelihood of tracheomalacia (partial collapse of the trachea).

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), fatigability 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 (right heart failure). In the absence of surgically correctable problems, supplemental O2 therapy under pressure (such as bi-pap) may be indicated.

A recent study from Israel notes that children with DS have significant sleep fragmentation with frequent awakenings and arousals that are not related to obstructive sleep apnea syndrome. [See References, Section K, Levanon et al.]

Two studies point to the importance of keeping children with DS in the hospital overnight following tonsillectomy and adenoidectomy, because of higher rate of postoperative respiratory complications. [See References, Section K, Bower et al, and Goldstein et al.]

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 T4 every six months, withholding treatment unless the T(subscript)4 is low. Immune-mediated hyperthyroidism also occurs in children and adults with DS. High sensitivity TSH levels will be abnormally low in these cases. In addition, weight loss, GI symptoms and heat intolerance are often seen.

Diabetes mellitus, recognized to be an autoimmune condition, also occurs more frequently in individuals with with DS, with a prevalence rate between 1.4 and 10.6%. [References, Section M, Anwar et al.]

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), page 8: "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." A recent study from Sweden and Australia reveals that treatment with human growth hormone did result in "normal height velocity but did not affect head circumference or mental or gross motor development." [See References, Section M, Anneren G, Tuvemo T, Sava VR et al.]

Feeding/Nutrition: Infants with DS may initially experience difficulty with coordination of suck and swallow. They may need assistance of a feeding specialist (such as nurse specialists, occupational therapists, speech-language pathologists) or lactation specialists, if the mother is nursing. Later on, toddlers may have difficulty with texture progression. Significant disruption of family activities, involvement of more than two professionals indicates that a consultation with a multi-disciplinary feeding team may be warranted. [See References Section N, Medlen.] Remember that there is up to a 10% difference in basal metabolic rate for individuals with DS.

Follow % Ideal Body Weight, calculated as follows: plot childÕs height on growth chart for typically developing children and determine the age for which this height is at the 50th percentile. Determine the weight at the 50th percentile for this height. Divide the actual weight of the child by this determined weight and multiple by 100. Goal is 90% - 100% IBW. Chart this sequentially.

Hematology: Leukemia is more common in children with DS than in the general population. Nevertheless, this is rare. Most leukemia in children less than 3 years of age is non-lymphocytic leukemia (usually acute myelogenous leukemia). Children with DS usually respond very favorably to standard treatment, going into remission easily. In the newborn period, there is a 10% incidence of myelo-proliferative disorder ("leukemoid reaction") which in some instances develops into acute megakaryobalstic leukemia. Polycythemia has been frequently observed in the newoborn period; in one series, as high as 64% of children studied were affected

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, respiratory synctial virus,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 months of age, and be performed annually 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. Keratoconus occurs more frequently in adolescents with DS than in the typical child.

Orthopedic Disorders & Atlan-toaxial Instability (AAI): Ligamentous laxity is responsible for a number of orthopedic difficulties in individuals with DS. Interestingly, congenital hip dislocation is not commonly encountered. Hip dislocation is more often seen in the older child and the adolescent. Chronic patellar dislocation can lead to gait disturbances in the adolescent. 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 is found 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 between 3 and 5 years of age 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. The studies should be repeated, as needed, for participation in Special Olympics.

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 childÕs neurological status would necessitate evaluation and possible treatment (i.e, spinal fusion). Asymptomatic children with instability (5 to 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.

We are no longer recommending repeat screenings at fixed intervals, inasmuch as the value of this procedure has not yet been confirmed in preventing injury. We strongly recommend careful neurological examination of the individual with Down syndrome, immediate attention to symptoms indicating neck or spinal cord problems (see above), and vigilance by ENT physicians and anesthesiologists during surgical procedures which may hyperextend the neck.

The editor understands that the Special Olympics Medical Advisory Committee is involved in clarifying the problematic issue of detection and prevention of spinal cord injuries. [For a recent review of the subject, see References, Section W, Pueschel (1998) & Cohen (1998).]

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 childÕs 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.

Gastro-intestinal disorders: In addition to congenital abnormalities, such as duodenal atresia and imperforate anus, which are readily identifiable, babies with Down syndrome are more likely to have partial upper GI obstruction (duodenal web), tracheo-esophageal fistula, and pyloric stenosis. Chronic constipation occurs frequently, and the serious conditions in the differential diagnosis includes hypo-thyroidism, and Hirschsprung disease. Failure to pass meconium in the first 24 hours suggests the possibility of Hirschsprung disease. Significant constipation which is refractory to dietary management warrants further investigation, such as referral to a pediatric gastroenterologist for further studies (barium enema, rectal biopsy).

Gastroesophageal reflux (GER) occurs in infants with DS, as it does in the typical population. In addition to spitting up and vomiting, some children have respiratory symptoms, such as cough, stridor, wheezing and pneumonia. GER must be part of the differential diagnosis for these conditions, and appropriate treatment given.

Celiac disease occurs in from 7 to 16% of children with DS, though many of these studies are from European sources. Individuals with DS are felt to be predisposed to this condition because of the known increased incidence of autoimmune disorders. Screening is best accomplished using IgA antiendomysium antibodies, following up positive results with a villous biopsy. Symptoms usually resolve following institution of a gluten-free diet.

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 subsequent children may have Down syndrome. This service should also be made available to individuals with DS, when appropriate.

Prenatal screening & testing technologies continue to evolve. Proposed methods include separating fetal cells from the maternal circulation, and use of multiple serum markers and nuchal thickness as measured by ultrasonography.

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. Children with DS often continue to develop verbal expressive language into their adolescent and young adult years. The strong visual skills of individuals with DS have led to the development of reading programs to improve speech and language development. [See References, Section N, Laws et al.] Professor Sue Buckley has researched this area extensively. Many reports are published in Down Syndrome Research and Practice. [See References, Section Z, Internet Resources.] 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. Whereas the incidence of autism in the general population is reported at 13 per 10, 000 population, current evidence suggests that the prevalence in Down syndrome is approximately 5 to 10 %.. [See References, Section X, Cohen & Patterson.]

Neuropsychiatric Disorders, including Alzheimer Disease: 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 References, Section B, Chicoine B, et al. p. 103]

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.

There has been great interest in the association of Alzheimer disease with DS for two main reasons. First of all, pathological study of the brains of individuals with DS reveal the characteristic neuropathological findings of plaques and neurofibrillary tangles. These changes can be found in relatively young individuals without signs and symptoms of AD. Secondly, Chr 21 contains the genes for amyloid precursor protein, and amyloid contributes to these pathological changes in the brains of individuals with Alzheimer disease (AD). DS is associated with other signs of early aging, and consequently these factors, in conjunction with functional decline in individuals with DS, suggested this was a very common problem. Current observers have noted that the original observations were cross-sectional studies conducted on institutionalized populations, and that this may be playing a role in the high incidence described. For example, Zigman et al. cogently note that Òthe neuropathological criteria for diagnosis of Alzheimer disease are not strongly correlated to clinical expression of symptoms.Ó PrasherÕs group, involved in a longitudinal study, noted that Òage-related decline in adaptive skills does not equate to AlzheimerÕs disease.Ó If individuals are in good physical health, there is usually no decline. This certainly validates the experience of Chicoine and McGuire. Out of 443 adults seen at their Clinic, 148 presented with a decline in function. And only 11/148 met the criteria for progressive and nonreversible decline and deterioration and would therefore merit the diagnosis of AD. This translates to 2.5% of the total 443 patients. [See References, Section X.]

The signs of depression in typical individuals usually consist 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. 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.

Kishnani and her colleagues at Duke University report that the use of the acetylcholinesterase inhibitor donezepil (Aricept) improved communication, expressive language, attention and mood stability in four adults, ages 24, 27, 38, and 64. The two older patients met diagnostic criteria for dementia. This pilot study suggests that this treatment may be great value to adults with DS in general and as well as those with AD. The drug had been given for 6 months with no significant side effects observed. A large-scale double-blind placebo controlled study is being planned.