In addition to intellectual and developmental disabilities, children with Down syndrome are at an increased risk for certain health problems. However, each individual with Down syndrome is different, and not every person will have serious health problems. Many of these associated conditions can be treated with medication, surgery, or other interventions.
Some of the conditions that occur more often among children with Down syndrome include:
- Heart defects. Almost one-half of babies with Down syndrome have congenital heart disease (CHD), the most common type of birth defect. CHD can lead to high blood pressure in the lungs, an inability of the heart to effectively and efficiently pump blood, and cyanosis (blue-tinted skin caused by reduced oxygen in the blood). For this reason, the American Academy of Pediatrics (AAP) Committee on Genetics recommends infants with Down syndrome receive an echocardiogram (a sound “picture” of the heart) and an evaluation from a pediatric cardiologist. Sometimes, the heart defect can be detected before birth, but testing after birth is more accurate. Some heart defects are minor and may be treated with medication, but others require immediate surgery.1
- Vision problems. More than 60% of children with Down syndrome have vision problems, including cataracts (clouding of the eye lens) that may be present at birth. The risk of cataract increases with age. Other eye problems that are more likely in children with Down syndrome are near-sightedness, “crossed” eyes, and rapid, involuntary eye movements. Glasses, surgery, or other treatments usually improve vision. The AAP recommends that infants with Down syndrome be examined by a pediatric eye specialist during the newborn period, and then have vision exams regularly as recommended.1
- Hearing loss. About 70% to 75% of children with Down syndrome have some hearing loss, sometimes because of problems with ear structures. The AAP recommends that babies with Down syndrome be screened for hearing loss at birth and have regular follow-up hearing exams. Many inherited hearing problems can be corrected. Children with Down syndrome also tend to get a lot of ear infections. These should be treated quickly to prevent possible hearing loss.1,2
- Infections. People with Down syndrome are 12 times more likely to die from untreated and unmonitored infections than other people. Down syndrome often causes problems in the immune system that can make it difficult for the body to fight off infections, so even seemingly minor infections should be treated quickly and monitored continuously. Caregivers also should make sure that children with Down syndrome receive all recommended immunizations to help prevent certain infections. Infants with Down syndrome have a 62-fold higher rate of pneumonia, especially in the first year after birth, than do infants without Down syndrome, for example.2
- Hypothyroidism. The thyroid is a gland that makes hormones the body uses to regulate things such as temperature and energy. Hypothyroidism, when the thyroid makes little or no thyroid hormone, occurs more often in children with Down syndrome than in children without Down syndrome. Taking thyroid hormone by mouth, throughout life, can successfully treat the condition. A child may have thyroid problems at birth or may develop them later, so health care providers recommend a thyroid examination at birth, at 6 months, and annually throughout life.1,3 Routine newborn screening may detect hypothyroidism at birth. However, some state newborn screening programs only screen for hypothyroidism one way, by measuring free thyroxine (T4) in the blood. Because many infants with Down syndrome have normal T4, they should be screened for levels of thyroid stimulating hormone (TSH) in these states as well.4
- Blood disorders. Children with Down syndrome are 10 to 15 times more likely than other children to develop leukemia (pronounced loo-KEE-mee-uh), which is cancer of the white blood cells. Children with leukemia should receive appropriate cancer treatment, which may include chemotherapy.5 Those with Down syndrome are also more likely to have anemia (low iron in the blood) and polycythemia (high red blood cell levels), among other blood disorders. These conditions may require additional treatment and monitoring.1
- Hypotonia (poor muscle tone). Poor muscle tone and low strength contribute to the delays in rolling over, sitting up, crawling, and walking that are common in children with Down syndrome. Despite these delays, children with Down syndrome can learn to participate in physical activities like other children.6
Poor muscle tone, combined with a tendency for the tongue to stick out, can also make it difficult for an infant with Down syndrome to feed properly, regardless of whether they are breastfed or fed from a bottle. Infants may need nutritional supplements to ensure they are getting all the nutrients they need. Parents can work with breastfeeding experts and pediatric nutritionists to ensure proper nutrition.7 In some cases, the weak muscles can cause problems along the digestive tract, leading to various digestive problems, from difficulty swallowing to constipation. Families may need to work with a gastroenterologist to overcome these problems.
- Problems with the upper part of the spine. One or two of every ten children with Down syndrome has misshapen bones in the upper part of the spine, underneath the base of the skull. These misshaped bones can press on the spinal cord and increase the risk for injury. It is important to determine if these spinal problems (called atlantoaxial [pronounced at-lan-to-AK-se-al] instability) are present before the child has any surgery because certain movements required for anesthesia or surgery could cause permanent injury. In addition, some sports have an increased risk of spinal injury, so possible precautions should be discussed with a child’s health care provider.1
- Disrupted sleep patterns and sleep disorders. Many children with Down syndrome have disrupted sleep patterns and often have obstructive sleep apnea, which causes significant pauses in breathing during sleep. A child’s health care provider may recommend a sleep study in a special sleep lab to detect problems and determine possible solutions.1 It might be necessary to remove the tonsils or to use a continuous positive airway pressure device to create airflow during sleep.
- Gum disease and dental problems. Children with Down syndrome may develop teeth more slowly than other children, develop teeth in a different order, develop fewer teeth, or have misaligned teeth compared to children who do not have Down syndrome. Gum disease (periodontal disease), a more serious health issue, may develop for a number of reasons, including poor oral hygiene. Health care providers recommend visiting the dentist within 6 months of the appearance of the child’s first tooth or by the time the child is 1 year old.8
- Epilepsy. Children with Down syndrome are more likely to have epilepsy, a condition characterized by seizures, than those without Down syndrome. The risk for epilepsy increases with age, but seizures usually occur either during the first 2 years of life or after the third decade of life. Almost one-half of people with Down syndrome who are older than age 50 have epilepsy. Seizures can usually be treated and controlled well with medication.9,10
- Digestive problems. Digestive problems range from structural defects in the digestive system or its organs, to problems digesting certain types of foods or food ingredients. Treatments for these problems vary based on the specific problem. Some structural defects require surgery. Some people with Down syndrome have to eat a special diet throughout their lifetime.1,3
- Celiac disease. People with celiac disease experience intestinal problems when they eat gluten, a protein in wheat, barley, and rye. Because children with Down syndrome are more likely to have celiac disease, health care providers recommend testing for it at age 2 or even younger if the child is having celiac symptoms.3
- Mental health and emotional problems. Children with Down syndrome may experience behavioral and emotional problems, including anxiety, depression, and Attention Deficit Hyperactivity Disorder. They might also display repetitive movements, aggression, autism, psychosis, or social withdrawal. Although they are not more likely to experience these problems, they are more likely to have difficulty coping with the problems in positive ways, especially during adolescence. Treatments may include working with a behavioral specialist and taking medications.