There are some health conditions that occur more often in people with Down syndrome. There are also some health conditions that seem to occur less often. Adults with Down syndrome, their supporting loved ones and their health care providers should be aware of the main health issues related to trisomy 21. In addition, adults with Down syndrome should be offered all of the regular screening tests and health care maintenance interventions that are commonly provided to adults who do not have Down syndrome.
What Health Conditions Occur More Often in Adults with Down Syndrome?
Adults with Down syndrome are at higher risk of developing diseases of autoimmunity, perhaps because of the number of immune system genes that reside in chromosome 21. These are conditions in which the person’s own immune system attacks particular tissues that are mistakenly perceived as foreign. The most common autoimmune conditions that co-occur with Down syndrome are hypothyroidism and celiac disease. Graves’ disease resulting in hyperthyroidism and type 1 diabetes also seem to have a higher incidence in Down syndrome. Other health conditions that can present in adulthood in Down syndrome include atlantoaxial instability, obesity, obstructive sleep apnea and Alzheimer’s disease.
What Is Hypothyroidism? How Is It Diagnosed and Treated?
Hypothyroidism is a dysfunction of the thyroid gland, by which it secretes lower amounts of thyroid hormone than are required to maintain normal body metabolism. Thyroid hormone helps regulate energy balance; when levels are low, the patient feels sluggish, tired and/or cold. He or she may develop constipation, gain weight and have lower intellectual functioning. It can be easily diagnosed with a blood test, and it is treated with daily thyroid hormone supplements. Because these supplements consist of the same hormone the body would have produced, there are no significant side effects when it is provided in adequate doses.
What Is Celiac Disease? How Is It Diagnosed and Treated?
Celiac disease results from an autoimmune reaction to gluten, a protein component of wheat products. The autoimmune reaction takes place in the gut, and as a result the small intestine becomes atrophied and loses absorbing capacity. Symptoms can be varied and may include unintentional weight loss, bloating, abdominal pain, diarrhea and cramps. It can be screened for by measuring tissue transglutaminase antibody; supporting tests include anti-gliadin and anti-endomysial antibodies. A confirmatory diagnosis can only be obtained by a small bowel biopsy performed during upper endoscopy. Treatment involves the institution of a gluten-free diet, i.e. eliminating all wheat flour products from the diet.
What is Atlantoaxial Instability? How Is It Diagnosed and Treated?
Atlantoaxial instability results from laxity in the ligaments that hold together the first (atlas) and second (axis) cervical vertebrae in the neck. If the ligaments become loose, a bony process of the axis may impinge on the spinal cord and cause nerve damage, particularly during bending of the neck or an injury sustained in contact sports. The condition occurs in approximately 15% of people with Down syndrome: it is diagnosed by neck X-rays obtained in the flexion and extension positions. The only definitive treatment is surgical.
Why Does Obesity Occur More Often in Individuals with Down Syndrome?
Sometimes it is the result of untreated hypothyroidism. There is a suggestion that people with Down syndrome may have a lower level of metabolism, i.e. their bodies may consume less calories and therefore store more. More generally, it is due to the intake of too many calories in relation to the level of physical activity. Treatment strategies involve lowering portion size, emphasizing healthy ingredients that increase bulk (i.e. fiber, fruits and vegetables), making smart choices on drinks and desserts, avoiding snacks, empowering young adults to monitor their own weight, involving supervisors at work and school on the treatment plan, preparing lunch at home, never using food as a reward, and introducing a daily exercise routine that is appropriate to the young adult’s interest and skills.
What Is Obstructive Sleep Apnea? How Is It Diagnosed and Treated?
In obstructive sleep apnea the airway closes transiently during sleep, resulting in frequent brief periods of poor oxygenation that lead to awakening and poor quality sleep. The patient is often unaware of these symptoms, but sleep fragmentation often results in daytime sleepiness, inability to concentrate, irritability, headaches, low energy and cognitive dysfunction. It occurs more often in individuals with Down syndrome because of the small size of their oral cavities in relation to the soft tissues of the mouth (tongue, palate, tonsils and adenoids), their low muscle tone and their propensity to obesity. It is diagnosed by an overnight sleep study in a sleep lab. Non-invasive treatment options include a continuous positive airway pressure (CPAP) machine and weight loss. Invasive treatment options include resection of tonsils and adenoids, or more involved ENT procedures.
What About Behavioral Changes in Adulthood?
These can be caused by a number of factors: difficulty with transitions into adolescence or young adulthood, with the loss of social networks, departure of older siblings, death of loved ones, move out of the home or transfer from a protective school environment into a work situation; sensory deprivation, either visual (e.g. cataracts) or auditory (hearing loss); emotional trauma; hypothyroidism; obstructive sleep apnea; depression; and Alzheimer’s disease. While Alzheimer’s disease occurs earlier and more often in adults with Down syndrome than in the general population, not every behavioral or cognitive change in an adult with Down syndrome should be ascribed to this form of dementia. The reversible causes enumerated above should be considered, sought after and treated.
What Health Conditions Occur Less Often in Individuals with Down Syndrome?
It appears that adults with Down syndrome have a lower incidence of coronary atherosclerosis (which can cause heart attacks), stroke, high blood pressure and many solid tumors. This does not necessarily mean that they are exempt from them, especially if they do have a family history of any of the above. As a group, they do have a much lower incidence of substance abuse or death by violence. They also seem to have a higher threshold for pain.
What About Health Care Maintenance?
Adults with Down syndrome should be offered the same screening procedures and preventive interventions that are recommended for the general population, including vaccinations, mammograms, diabetes and cholesterol screening, colon cancer screening, etc. These tests should be individualized to each patient’s personal situation in consultation with his or her health care provider.
NDSS thanks special guest author Jose Florez, M.D., Ph.D. for preparing this piece.
- Adult Congenital Heart Disease Association
Provides information on topics concerning congenital heart conditions
- Alzheimer’s Association (National Office)
800-272-3900 (24-hour hotline)
Offers resources on Alzheimer’s disease
- The Arc
Advocates for and serves people with intellectual and developmental disabilities and their families
- National Institute of Neurological Disorders and Stroke
Works to reduce the burden of neurological disease
BOOKS & ARTICLES