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Down Syndrome (cont.)

Medical Conditions Associated with Down Syndrome

  • Up to 50% of people with Down syndrome are born with a heart defect. The atrioventricular septal defect is the most common heart defect found in newborns with Down syndrome. Other heart defects include ventricular septal defect, atrial septal defect, tetralogy of Fallot, and patent ductus arteriosus. Some newborns with these types of heart defects will require surgery shortly after birth.

  • Gastrointestinal abnormalities also occur quite frequently in Down syndrome. Esophageal atresia, tracheoesophageal fistula, duodenal atresia or stenosis, Hirschsprung's disease, and imperforate anus are some of the more common conditions. Approximately 5% to 15% of people with Down syndrome develop celiac disease. Surgery may be necessary for some of these gastrointestinal conditions.

  • Children with Down syndrome are also at an increased risk of developing acute lymphoblastic leukemia,  myeloid leukemia, and testicular cancer; however, the risk of developing most solid tumors is reduced in individuals with Down syndrome.

  • Other medical conditions include, infantile spasms, frequent ear infections (otitis media), hearing loss, visual impairment, sleep apnea, underactive thyroid (hypothyroidism), cervical spine-instability, constipation, obesity, seizures, dementia, and early-onset Alzheimer's disease.

  • Coexisting psychiatric and behavior disorders occur in about 18% to 38% of individuals with Down syndrome. These include attention deficit hyperactivity disorder (ADHD), autism spectrum disorders, stereotypical movement disorders, obsessive compulsive disorder (OCD), and depression.
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Down Syndrome »

In 1866, Down described clinical characteristics of the syndrome that now bears his name.

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