Celebrating People with a Little Something Extra
World Down Syndrome Day was March 21st, 2022. Down syndrome, or Trisomy 21, is a genetic disorder that occurs when there is an extra copy, either full or partial, of chromosome 21. This occurs in about 1 in 800 births. Because Down syndrome occurs genetically, people who have this diagnosis typically share some common traits or characteristics. These include low muscle tone, small stature, upward slanting of the eyes, and a single crease across the center of the palm.
There are also medical issues that occur frequently in people with Down syndrome. These can include:
Dementia: Dementia is a chronic disorder that affects memory, personality, and reasoning. Although Alzheimer’s, a form of dementia, is prevalent in people with down syndrome, underlying medical issues should be ruled out first. Alzheimer’s is rare in a person under the age of 40 with Down Syndrome.
Diabetes: Diabetes is a disease in which the body’s ability to respond or produce insulin is impaired. Diabetes occurs at a high rate in people with Down syndrome. According to the Global Down Syndrome Medical Guidelines it is recommended if a person is asymptomatic to have a hemoglobin A1C completed every 3 years beginning at age 30. If a person has Down Syndrome and is also obese it is recommended that they have a hemoglobin A1C completed every 2-3 years beginning at the age of 21.
Cardiovascular Disease: Cardiovascular disease are diseases that affect the blood vessels and heart. This can lead to a risk of heart attacks and/or strokes. People with Down syndrome should be assessed for cardiac risk, including elevated cholesterol and other diseases, such as sleep apnea which can increase cardiac risk.
Obesity: Being overweight or obese is a frequent concern for people diagnosed with Down syndrome. Weight changes and obesity should be assessed yearly by utilizing the BMI.
Atlantoaxial Instability: Atlantoaxial instability causes increased mobility at the C1-C2 level. This also means that the ligaments in this area can be very lax. Depending on the amount of slippage there can be a risk of spinal cord compression. According to the National Down Syndrome Society additional symptoms of atlantoaxial instability can include increased fatigue, difficulty walking, abnormal gait, neck pain, clumsiness, and head tilt, among other symptoms.
Osteoporosis: Osteoporosis is a disease that weakens and thins bones. For adults who sustain a fracture, exploration for a secondary underlying disease is recommended. Such diseases could include hyperthyroidism, celiac disease, hyperparathyroidism, as well as medications that affect bone growth.
Thyroid Disorder: Thyroid disorder is a disease where the thyroid doesn’t produce enough thyroid hormone. There is a high prevalence of hypothyroidism in people with Down syndrome. It is recommended to screen every 1-2 years after the age of 21.
Celiac Disease: Celiac disease is a chronic disease of the digestive system and an autoimmune disease that damages the small intestine. This disorder causes the body to be unable to absorb nutrients properly. Recommendations are that adults with Down syndrome are assessed yearly for gastrointestinal and non-gastrointestinal signs or symptoms.
The Global Down Syndrome Foundation has written a resource entitled “Global Down Syndrome Foundation Medical Care Guidelines for Adults with Down Syndrome”. Click the cover below to download a copy.
