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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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

Adolescents with Down syndrome undergo the same hormonal changes during puberty as typically developing children. Girls with Down syndrome have regular menstrual periods and should receive instructions on hygiene. Although women with Down syndrome are not very fertile, they can become pregnant. Men with Down syndrome have low sperm count, but in some cases have fathered children. Proper education regarding sexual development and contraception is very important.

Individuals with Down syndrome live longer than ever before. Due to full inclusion in society, many adults with Down syndrome now live semi-independently, enjoy relationships, work, and contribute to their community.

Adults with Down syndrome also age faster than average. The older they become, the higher the risk of developing hypothyroidism, late-onset seizures (tonic-clonic seizures in particular), memory loss, and dementia. By age 40, many individuals with Down syndrome will show signs of dementia and early-onset Alzheimer's disease. By age 60, 50% to 70% of adults will develop Alzheimer's disease. Why individuals with Down syndrome age prematurely and why they develop Alzheimer's disease is not entirely clear. At least one gene (the amyloid precursor protein) on chromosome 21 is thought to be involved in Alzheimer's disease. Since individuals with Down syndrome have three copies of this gene, it is likely that this gene contributes to the increased occurrence of Alzheimer's disease in this population.

Detecting dementia and early signs of Alzheimer's disease is a challenge in individuals with Down syndrome who are often already cognitively impaired. It is important for caregivers and doctors to be aware of changes in skills necessary for independence.