The Heart and Down Syndrome

• Congenital cardiac defects occur in up to 50 percent of children with Down syndrome.
• Early diagnosis via echocardiogram is crucial within the first two months of life, even if no symptoms are present.
• The majority of heart defects in children with Down syndrome can be surgically corrected with resulting long-term health improvements.
• Experience and success are the key factors in selecting a hospital and surgical team for heart surgery on infants with Down syndrome.

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Endocrine Conditions and Down Syndrome

• Approximately 10 percent of children with Down syndrome, and between 13 to 50 percent of adults with this genetic disorder, have thyroid disease. Hypothyroidism, an underfunctioning thyroid gland, is the most common condition.
• Hypothyroidism must be diagnosed by a standard blood test, beginning at infancy and continuing at regular intervals throughout the life span.
• Hypothyroidism is easily treated with replacement thyroxine hormone; treatment is particularly crucial for hypothyroid infants, as the hormone affects normal development of the brain. However, this thyroid disease can be developed at any time in the life span.
• Hyperthyroidism is an overactive thyroid gland. Diagnosis is also by blood test. The condition can be treated by medication, surgery, or use of radioactive iodine to destroy the gland.
• Insufficient evidence exists on the issue of whether individuals with Down syndrome are more prone to type 1 diabetes. Research does suggest that individuals who develop one type of endocrine autoimmune disorder, such as thyroid disease, run a higher risk of developing other autoimmune disorders, such as type 1 diabetes.
• While some short-term uncontrolled studies on the use of growth hormone for children with down syndrome have demonstrated growth spurts, there is no long-term research to demonstrate an increase in final height. Growth hormone should be administered only as part of a clinical trial until long-term benefits are demonstrated.

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Alzheimer's Disease and Down Syndrome

• Individuals with Down syndrome are 3 to 5 times more likely than the general population to develop Alzheimer's disease. Onset of Alzheimer's may begin as early as age 30 in the Down syndrome population as compared to age 50 in the general population.
• Symptoms of a variety of other diseases and conditions mimic the symptoms of Alzheimer's disease: personality change, decline in daily living skills, memory loss, changes in coordination and gait and other changes. Diseases and conditions such as depression, thyroid disorders, brain tumor, recurrent brain strokes, metabolic imbalances, and various neurological conditions must be ruled out prior to diagnosis of Alzheimer's disease.
• It is recommended that individuals with Down syndrome take a baseline test of cognitive function at age 30, and that this test be repeated annually to determine any deterioration in this function. Some Alzheimer's disease symptoms can be treated, although there is no current means of curing or arresting the disease.
• Current research suggests a causative link between the extra "gene dosage" from the third chromosome 21 of Down syndrome and Alzheimer's disease. To advance research, donations of brain tissue from individuals with Down syndrome and Alzheimer's disease are being sought.

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Sexuality in Down Syndrome

• People with Down syndrome experience the same range of sexual feelings as the general population.
• Teenagers with Down syndrome undergo the same changes at puberty as all adolescents, though these changes may be slightly delayed for boys with Down syndrome.
• There is at least one known case of a man with Down syndrome fathering a child. While the overall fertility of men with Down syndrome may be reduced, it is still advisable that couples use contraception whenever pregnancy prevention is desired.
• At least 50 percent of women with Down syndrome are fertile. Healthy females can use contraception without added medical risk.
• Education is an appropriate and highly desirable component in developing positive sexual awareness for the individuals with Down syndrome.

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The Neurology of Down Syndrome

• The most common involvements of the nervous system in Down syndrome are:

  hypotonia - the reduced muscle tone that occurs in virtually all infants with Down syndrome. It is commonly seen in the flexor group, muscles which act to flex a joint. The muscle weakness ranges from mild to moderate to severe.

  atlantoaxial dislocation - a problem caused by hypotonia. The ligaments at the first two cervical vertebra are more relaxed than they should be, putting the individual at risk of spinal cord compression and injury.

  seizures - Seizures for individuals with Down syndrome commonly look like epileptic seizures: jerking of arms and legs, and loss of consciousness. Seizures can also take a mixed form, with staring spells and momentary lapses of attention.

   

• The reduced muscle tone of hypotonia affects most infants with Down syndrome and ranges from mild to severe.
• Hypotonic conditions improve with age; however, gross motor movement programs provided by physical and occupational therapists have been proven useful in diminishing the symptoms of hypotonia.
• Atlantoaxial dislocation refers to a weakness of neck muscles that affects approximately 10 to 20 percent of children with Down syndrome. Most cases are asymptomatic. Preventive measures against neck injuries call for lateral cervical x-rays for all children with Down syndrome after age 2. If atlantoaxial dislocation is present, high-risk activities such as jumping, diving, etc., should be limited.
• In cases of atlantoaxial dislocation where symptoms are present, the atlantoaxial joint can be surgically fused.
• Seizures are equally common in the child with Down syndrome as compared to the general same-age population. After age 20, the incidence of seizures in the Down syndrome population increases substantially as compared to the general population. Seizures can be controlled by standard anti-convulsant medication.

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