Health Care Management of Adults with Down Syndrome

Author: David S. Smith
Date: Sept 15, 2001

The family physician's holistic approach to patients forms the basis of good health care for adults with Down syndrome. Patients with Down syndrome are likely to have a variety of illnesses, including thyroid disease, diabetes, depression, obsessive-compulsive disorder, hearing loss, atlantoaxial subluxation and Alzheimer's disease. In addition to routine health screening, patients with Down syndrome should be screened for sleep apnea, hypothyroidism, signs and symptoms of spinal cord compression and dementia. Patients with Down syndrome may have an unusual presentation of an ordinary illness or condition, and behavior changes or a loss of function may be the only indication of medical illnesses. Plans for long-term living arrangements, estate planning and custody arrangements should be discussed with the parents or guardians. Because of improvements in health care and better education, and because more people with this condition are being raised at home, most adults with Down syndrome can expect to function well enough to live in a group home and hold a meaningful job. (Am Fam Physician 2001;64:1031-8,1039-40.)

Down syndrome (trisomy 21) occurs in about one in 1,000 live births.(1) Although the risk increases with increasing maternal age, most infants with Down syndrome are born to mothers of typical childbearing age. About 250,000 families in the United States are affected.(2) Average life expectancy of persons with Down syndrome has increased into the middle 50s,(3) and a person with Down syndrome who lived to age 83 has been reported.4 Most persons with Down syndrome are functioning in our communities, sometimes with minimal support, for many years of adult life.

Certain clinical conditions occur more commonly in persons with Down syndrome (Table 1). It is important to be aware of these common problems because clinical features of disease can be difficult to recognize. The physician may attribute symptoms to Down syndrome instead of to a new disease process because of the difficulty of obtaining a good history in light of limited expressive speech, a decreased tendency to complain of pain and a tendency to manifest medical problems as behavior problems.

TABLE 1Selected Medical Conditions with a Higher Prevalencein Adults with Down Syndrome[*]Endocrine Thyroid disease--hypothyroidism and hyperthyroidism Diabetes mellitusMental health Depression Obsessive-compulsive disorder Abuse (physical or sexual) Conduct disorderOtolaryngology Obstructive sleep apnea Hearing lossMusculoskeletal Spinal cord compression Atlantoaxial subluxationPeriodontal diseaseAlzheimer's diseaseCataracts, refractive errors and keratoconusSeizuresTesticular cancerXerodermatitisAcquired valvular heart disease, including mitral valve prolapse[*]--Listed in approximate order of clinical importance.

Health Care Guidelines

Health-related conditions beyond those of the general population that should be screened for in patients with Down syndrome are presented in detail in the "Health Care Guidelines for Individuals with Down Syndrome,"(5) the most widely published health care guidelines that include adults. Health care screening in persons with Down syndrome has not been well studied. So far, most relevant studies have focused on descriptions of the higher prevalence of a condition in persons with Down syndrome as a cause of significant morbidity or on case studies of conditions affecting these patients. The Health Care Guidelines are derived from the consensus of a panel of the Down Syndrome Medical Interest Group and based on available evidence.

Usual Health Maintenance Needs

Adults with Down syndrome have the same basic health care needs as typically developed people, including health screening and prevention. Immunization schedules are the same. Screening for hypertension and heart disease, and disease surveillance are no different. Although solid tumors are less common in persons with Down syndrome than in the general population,(6) until more data are available, cancer screening should be the same in this group as it is in the general population.

Diabetes has a higher prevalence in adults with Down syndrome than in the general population.(7) Although there are no specific recommendations regarding diabetes in persons with Down syndrome, it may be reasonable to screen these patients for this disease. A fasting plasma glucose level of 126 mg per dL (7.0 mmol per L) or higher, a plasma glucose level of 200 mg per dL (11.1 mmol per L) or higher two hours after a 75-g glucose load, or a random glucose level of 200 mg per dL or higher on two occasions are diagnostic of diabetes mellitus.

An annual testicular examination in men may be prudent because of the higher prevalence of testicular cancer in this group.(6) Because the prevalence of abuse in patients with disabilities is higher than in the general population,(8) screening for and counseling about abuse has special importance. In addition, these patients should be counseled about diet, exercise, obesity, smoking, alcohol use, accident prevention and contraception.

GYNECOLOGIC EXAMINATION

The gynecologic examination may be difficult to perform because of poor cooperation. If attempts to educate a sexually active patient about the Papanicolaou (Pap) smear and pelvic examination are not successful, a modified Pap smear may have some diagnostic value.(9) The physician can insert a finger into the vagina and slide the cytology brush or swab along the finger into the cervical os.(9) If the bimanual examination cannot be done, pelvic ultrasound examination is an option.

A risk-benefit decision must be made about doing the gynecologic examination with sedation,(10) if other measures fail. Oral ketamine and midazolam, administered under the supervision of an anesthesiologist, have been recommended.(10) The author has used oral midazolam (Versed) or intravenous conscious sedation when only mild sedation is needed. If the examination is performed with sedation, it may be helpful to combine it with other procedures such as blood tests, echocardiography, flexible sigmoidoscopy or mammography. Invasive procedures, however, require informed consent from an adult patient with Down syndrome, unless there is a court-appointed guardian.

Specific Health Maintenance Needs

Figure 1 outlines the specific elements of health maintenance in adult patients with Down syndrome.

CARDIAC DISEASE

Mitral valve prolapse and valvular regurgitation occur in as many as 57 and 17 percent of adults with Down syndrome, respectively.(11-13) Adults without known cardiac disease can develop valve dysfunction.(5) Careful auscultation is probably sufficient to screen for valvular regurgitation, which, if found, requires bacterial endocarditis prophylaxis. The diagnosis can be confirmed with echocardiography. Bacterial endocarditis prophylaxis started after repair of congenital heart disease should be continued if recommended by American Heart Association guidelines and the consulting cardiologist.

OTOLARYNGOLIC DISEASE

Conductive and sensorineural hearing losses occur in up to 70 percent of persons with Down syndrome and may not develop until early adulthood.(14-17) Because of their poorer communication skills, these persons may not be able to communicate that they are having difficulty hearing. Poor hearing will further complicate speech problems. These persons also may appear to be stubborn when they do not respond to requests they have not heard. The sensory deprivation associated with hearing loss may contribute to delirium. Auditory testing every two years is recommended in persons with Down syndrome.

Obstructive sleep apnea occurs in up to 50 percent of persons with Down syndrome.(18,19) In this group, it is not always associated with obesity and may be related to the hypotonia and structural abnormalities associated with Down syndrome. Apnea, snoring, unusual sleeping positions, daytime somnolence, obesity and a patulous uvula with erythema are all associated with obstructive sleep apnea.

Apnea in a person with Down syndrome may be expressed as psychologic symptoms such as irritability, depression, paranoia and other behavior changes. A sleep study will usually confirm the diagnosis. If obstructive sleep apnea is present, an otolaryngolic evaluation is required. Untreated obstructive sleep apnea can lead to cor pulmonale. Although continuous positive airway pressure devices can be difficult for many persons to tolerate, some patients with Down syndrome readily accept them.

OPHTHALMOLOGIC DISEASE

Cataracts occur in up to 13 percent of persons with Down syndrome. Keratoconus occurs in up to 15 percent, and 25 to 43 percent of these persons have refractive error.(20-23) An ophthalmologic examination is recommended every two years.

HYPOTHYROIDISM

Address correspondence to David S. Smith, M.D., Department of Family and Community Medicine, Medical College of Wisconsin, 8701 Watertown Plank Rd., Milwaukee, WI 53226. Reprints are not available from the author.

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Members of various family practice departments develop articles for "Practical Therapeutics." This article is one in a series coordinated by the Department of Family and Community Medicine at the Medical College of Wisconsin, Milwaukee. Guest editors of the series are Linda N. Meurer, M.D., M.P.H., and Douglas Bower, M.D.

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