Health Care for Adults With Down Syndrome

Down syndrome occurs in about one in 1,000 live births and affects about 250,000 families in the United States. The syndrome is a congenital condition caused by an extra chromosome. It is characterized by cognitive delays (or mental retardation) and certain facial features. Adults who have Down syndrome can present diagnostic and treatment challenges. Patients with Down syndrome are more prone to certain health conditions, but may have difficulty expressing their symptoms and following treatment directions. Furthermore, symptoms may be incorrectly attributed to the condition of Down syndrome. An overall, holistic approach forms the basis of good health care for adults with Down syndrome.

Adults with Down syndrome have the same basic health care needs as typically developed people and should receive the same age-appropriate preventive care as unaffected persons. Immunization schedules are the same and screening for high blood pressure, heart disease, cancer and dental disease is no different. However, people with Down syndrome are likely to have a number of conditions, such as diabetes, thyroid disease, depression, hearing loss, obsessive-compulsive disorder, sleep apnea, compression of the spine in the neck area, and Alzheimer's disease.

An annual testicular examination in men with Down syndrome should be recommended because testicular cancer occurs more often in this group. Women should receive an annual gynecological examination and Pap smear. If such tests are difficult because of poor cooperation, sedation may be recommended. During sedation, it may be helpful to perform other procedures such as echocardiography, blood tests, flexible sigmoidoscopy or mammography. Unless there is a court-appointed guardian, invasive procedures require informed consent from the adult with Down syndrome.

Because people with disabilities are more likely to suffer abuse, patients with Down syndrome should be screened and counseled about abuse. They should also be counseled about exercise, diet, obesity, alcohol use, smoking, contraception and accident prevention.

Health counseling can help adults with Down syndrome function more effectively. Speech and language therapy and vocational training and job coaches may be helpful. Organizations like the National Down Syndrome Society and local parent-support groups are valuable resources. Long-term issues, such as independent living arrangements, custody guidelines, and estate and trust planning, should be addressed. Anticipating the stresses that may overwhelm the patient with Down syndrome is key.

Specific Health Maintenance Needs
Certain types of heart disease may occur in up to 57% of adults with Down syndrome. Physicians should be able to detect most cardiac problems by listening to the heart with a stethoscope. Other tests, such as echocardiography, may be necessary to confirm the diagnosis.

Auditory testing every two years is recommended because up to 70% of people with Down syndrome may have hearing loss. But they may not be able to communicate their hearing difficulty because of poorer communication skills. Speech problems will be further complicated by poor hearing. Hearing loss results in sensory deprivation that can contribute to delirium (such as that experienced by Alzheimer's patients). Meanwhile, an eye exam is recommended every two years.

Obstructive sleep apnea (OSA), in which breathing stops hundreds of times each night during sleep, occurs in up to 50% of people with Down syndrome. This usually occurs when tissues in the airway temporarily collapse. OSA is a potentially fatal condition that can make other health problems worse. Snoring, obesity, and daytime sleepiness are associated with obstructive sleep apnea. OSA may also be expressed as psychological symptoms, such as depression, paranoia, and irritability. Typical treatment involves wearing a mask while sleeping that forces air into the nose to keep the airway from collapsing.

Thyroid conditions are common in Down syndrome. The thyroid secretes a hormone that helps regulate metabolism and growth. Certain thyroid conditions can even contribute to dementia or be misdiagnosed as dementia, if left untreated. Thyroid-stimulating hormone levels should be checked each year.

Adults with Down syndrome should be monitored for pain and numbness, particularly in the arms, that may be related to the neck area. This can be a sign of abnormal changes in the vertebrae there, which is common. An annual neurological examination will help pinpoint signs of spinal cord compression.

About 30% of people with Down syndrome experience mental illness, particularly depression and obsessive-compulsive disorder. Selective serotonin reuptake inhibitors (SSRIs), such Prozac, Zoloft and Paxil, may be prescribed. Sometimes when a person with Down syndrome talks to himself or herself it is incorrectly considered hallucinatory behavior.

Adults with Down syndrome are more likely to get Alzheimer's disease, but this condition may be overdiagnosed because other causes of the same symptoms may be overlooked. Other causes include depression, infection, drug effects, alcoholism and illness. Symptoms of dementia include a change in behavior or a reduced ability to function. Treatment with SSRIs may help Alzheimer's patients because depression can coexist with dementia.

To effectively treat an adult with Down syndrome, the patient, his or her family or caregiver and the physician must strike an alliance. Helping the patient prepare psychologically for treatment and offering a variety of approaches with gentle persistence can make the difference between acceptance and rejection of a treatment.

David S. Smith, MD
Medical Director
Down Syndrome Clinic of Wisconsin
Children's Hospital of Wisconsin

Each year, Medical College of Wisconsin physicians care for more than 180,000 patients, representing nearly 500,000 patient visits. Medical College physicians practice at Children's Hospital of Wisconsin, Froedtert Memorial Lutheran Hospital, the Milwaukee VA Medical Center, and many other hospitals and clinics in Milwaukee and southeastern Wisconsin.