Down Syndrome (cont.)

Medical Author:

Sietske N. Heyn, PhD

Sietske N. Heyn, PhD

Sietske N. Heyn is a medical writer with a PhD in neuroscience. Dr. Heyn's education includes a BS with honors from the University of Oregon, and a doctoral degree in neuroscience from the University of California at Davis. After completing postdoctoral training at the University of California, San Francisco, and many years of working as a medical writer at the Stanford University Center for Down Syndrome Research, Dr. Heyn now runs her own medical writing business.

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Medical Editor:

David Perlstein, MD, MBA, FAAP

David Perlstein, MD, MBA, FAAP

Dr. Perlstein received his Medical Degree from the University of Cincinnati and then completed his internship and residency in pediatrics at The New York Hospital, Cornell medical Center in New York City. After serving an additional year as Chief Pediatric Resident, he worked as a private practitioner and then was appointed Director of Ambulatory Pediatrics at St. Barnabas Hospital in the Bronx.

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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.