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.

View Full Profile

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.

View Full Profile

In this Article

• What is Down syndrome?
• What are the chromosome basics of Down syndrome?
• How do the extra genes lead to Down syndrome?
• What are the risk factors for conceiving a child with Down syndrome?
• What are the characteristic features and symptoms of Down syndrome?
• What type of prenatal screening is available for Down syndrome?
• How is the diagnosis of Down syndrome made?
• What about cognitive impairment in Down syndrome?
• What other conditions are associated with Down syndrome?
• How is Down syndrome managed?
• What about early intervention and education for Down syndrome?
• What are the needs of infants and preschool children with Down syndrome?
• How do adolescents with Down syndrome develop?
• What should one expect for adults with Down syndrome?
• Do individuals with Down syndrome work?
• Where can I find clinical trials for Down syndrome?
• Down Syndrome At A Glance
• Where can I find more information about Down syndrome?
• Patient Comments: Down Syndrome - Experience
• Patient Comments: Down Syndrome - Symptoms
• Down Syndrome Index

Heart conditions

Apart from cognitive impairment, the most common medical conditions associated with Down syndrome are congenital heart defects. About half of all people with Down syndrome are born with a heart defect, often with an atrioventricular septal defect. Other common heart defects occurring in Down syndrome include ventricular septal defect, atrial septal defect, tetralogy of Fallot, and patent ductus arteriosus. Some babies will require surgery shortly after birth to correct these heart defects.

Gastrointestinal conditions

Gastrointestinal conditions are also commonly associated with Down syndrome, especially esophageal atresia, tracheoesophageal fistula, duodenal atresia or stenosis, Hirschsprung disease, and imperforate anus. Individuals with Down syndrome are at a higher risk for developing celiac disease. Corrective surgery is sometimes necessary for gastrointestinal problems.

Cancer

Certain types of cancer are more frequently found in Down syndrome, such as acute lymphoblastic leukemia (a type of blood cancer), myeloid leukemia, and testicular cancer. Solid tumors on the other hand rarely occur in this population.

Other conditions

Other medical conditions include:

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

About 18% to 38% of individuals with Down syndrome have coexisting psychiatric or behavior conditions, such as:

• autism spectrum disorders,
  
  
• attention deficit hyperactivity disorder (ADHD),
  
  
• depression,
  
  
• stereotypical movement disorders, and
  
  
• obsessive compulsive disorder.