Down Syndrome

 

Down syndrome, a chromosomal disorder, is the most frequent genetic cause of mild to moderate mental retardation in the United States.

 

WHAT IS A CHROMOSOME?

A chromosome is a package of genetic material found in the center 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 chromosome, which are designated by X and Y.

 

WHAT CAUSES DOWN SYNDROME?

Down syndrome occurs when one of the reproductive cells from the parent that combine at fertilization contains extra material from chromosome 21. Individuals with Down syndrome usually have 3 copies of chromosome 21(Trisomy 21) instead of 2 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 education 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
    www.nichd.nih.gov

  • National Down Syndrome Congress
    (800) 232-6372
    www.ndsccenter.org

  • National Down Syndrome Society
    (800) 221-4602
    www.ndss.org

 

Adapted with permission from JAMA Patient Page, February 2001 (not copyrighted).

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