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

While some individuals with Down syndrome find suitable paid employment, many others are volunteers, or hold no job. Individuals with Down syndrome who wish to work should receive adequate training and support. This is not always readily available in all communities at present. In addition, employers should be made more aware of the benefits of employing someone with Down syndrome.

Down Syndrome Clinical Trials

• Down syndrome is a genetic disorder and the most common cause of cognitive impairment.
  
  
• Individuals with Down syndrome have characteristic physical features that are widely recognized.
  
  
• Down syndrome is associated with heart defects, gastrointestinal conditions, and other health issues.
  
  
• Individuals with Down syndrome are at a high risk for developing dementia and early-onset Alzheimer's disease.
  
  
• The only well known risk factor for conceiving a child with Down syndrome is advanced maternal age.
  
  
• Screening for and diagnosis of Down syndrome is possible before birth.
  
  
• Due to improved medical treatment and social inclusion, the average life span of an individual with Down syndrome is now more than 55 years.
  
  
• Individuals with Down syndrome often live very healthy and productive lives.

• Down Syndrome Online
  
  
• The National Down Syndrome Society
  
  
• National Down Syndrome Congress
  
  
• National Association for Down Syndrome
  
  
• International Mosaic Down Syndrome Association
  
  
• Down Syndrome Clinics in the USA
  
  
• International Down Syndrome Clinics
  
  
• The Arc National Headquarters

REFERENCES:

Down Syndrome Online
<http://www.down-syndrome.org/>

National Institute of Child Health and Human Development. Facts About Down Syndrome.
<http://www.nichd.nih.gov/publications/pubs/downsyndrome.cfm>

Reddy, U.M., et al. Prenatal Imaging: Ultrasonography and Magnetic Resonance Imaging. Obstet Gynecol July 2008; vol 112(1): pp 145-157.

Wiseman, F., et al. Human Molecular Genetics. Human Molecular Genetics. April 2009; vol 18: pp R75-R83.