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Down Syndrome

Down syndrome, a chromosomal disorder, is the most frequent genetic cause of mild to moderate mental retardation in the United States . An article in the February 28, 2001 , issue of The Journal of the American Medical Association discusses whether an ultrasound examination of the fetus during pregnancy is an accurate screening test for Down syndrome. The authors conclude that ultrasound examinations are not practical to use for this purpose.

What Is a Chromosome?

A chromosome is a package of genetic material found in the center (nucleus) of every cell. Human cells normally contain 23 pairs of chromosomes, half of which are inherited from each parent. Each chromosome pair is designated by a number, except for the sex chromosomes, which are designated by X and Y.

Article continues below and (thank you)

What Causes Down Syndrome?

Down syndrome occurs when one of the reproductive cells from the parents that combine at fertilization contains extra material from chromosome 21. Individuals with Down syndrome usually have three copies of chromosome 21 (Trisomy 21) instead of two copies.

The risk of having a baby with Down syndrome increases with increasing age of the mother at conception. You can discuss with your doctor the possibility of receiving genetic counseling and prenatal screening for Down syndrome. Genetic counseling helps you and your partner learn about the benefits and risks of prenatal screening.

Developmental Needs of Individuals With Down Syndrome

Most individuals who have Down syndrome have intelligence quotient (IQ) scores in the mild to moderate range of retardation. Children with Down syndrome need to be in special educational programs that give them a good environment for learning and that keep pace with their intellectual capabilities. Early intervention with the help of special educators, speech therapists, occupational therapists, and social workers can provide the stimulation and encouragement that can make a difference in the life of a person with Down syndrome.

Medical Problems Associated With Down Syndrome

Children who have Down syndrome have the same health care needs as other children, but they also need extra care. Some of the conditions that may be associated with Down syndrome include:

• Heart defects
• Hearing problems
• Eye problems
• Seizure disorders
• Stomach or intestinal problems
• Trouble swallowing
• Thyroid problems
• Bone and joint problems
• Leukemia

For More Information

• American Academy of Family Physicians
  (800) 274-2237 or
  www.familydoctor.org
• National Institute of Child Health and Human Development Clearinghouse
  PO Box 3006
  Rockville, MD 20847
  (800) 370-2943 or
  www.nichd.nih.gov
• National Down Syndrome Congress
  800/232-6372 or
  www.ndsccenter.org
• National Down Syndrome Society
  (800) 221-4602 or
  www.ndss.org

Inform Yourself

To find this and previous JAMA Patient Pages, check out the Patient Page Index on JAMA's Web site at www.jama.com

Sources : National Institute of Child Health and Human Development, American Academy of Family Physicians, March of Dimes, The AMA Family Medical Guide, The AMA Complete Guide to Children's Health, The AMA Home Medical Library, The AMA Encyclopedia of Medicine

Brian Pace, MA, Writer
Cassio Lynm, MA, Illustrator
Richard M. Glass, MD, Editor

(JAMA. 2001; 285:1112)

Published in JAMA: February 28, 2001

The JAMA Patient Page is a public service of JAMA. The information and recommendations appearing on this page are appropriate in most instances, but they are not a substitute for medical diagnosis. For specific information concerning your personal medical condition, JAMA and the AMA suggest that you consult your physician. This page may be reproduced noncommercially by physicians and other health care professionals to share with patients. Any other reproduction is subject to AMA approval. To purchase bulk reprints, call (718) 946-7424.

© Copyright 2001 American Medical Association.
All rights reserved.

(JAMA. 2002; 288: 1548)
Published in JAMA: September 25, 2002

The JAMA Patient Page is a public service of JAMA. The information and recommendations appearing on this page are appropriate in most instances, but they are not a substitute for medical diagnosis. For specific information concerning your personal medical condition, JAMA suggests that you consult your physician. This page may be reproduced noncommercially by physicians and other health care professionals to share with patients. Any other reproduction is subject to AMA approval. To purchase bulk reprints, call (718) 946-7424.