Down syndrome (DS) is a common genetic disorder. It results in birth defects, medical problems, and some degree of intellectual disability .
DS is the most frequent genetic cause of mild to moderate intellectual disability. It occurs in one out of 800 to 1,000 live births. DS occurs in all races and economic groups.
Chromosomes contain the genetic makeup of your body. They occur in 23 pairs within the body. Three types of chromosomal changes that lead to DS include:
In all cases, it is the extra chromosome 21 genetic material that causes problems.
Factors that increase the chance for DS include:
Infants born with DS may have some or all of the following physical characteristics:
The degree of medical problems and intellectual disability varies. Talents, abilities, and pace of development differ. People with DS may be born with or develop:
Most of these health problems are treatable. The majority of people born with DS today have a life expectancy of approximately 55 years.
There are two types of procedures available to pregnant women:
Screening tests include the triple screen and the alpha-fetoprotein Plus .
Doctors can usually identify a child born with DS at delivery. When DS is suspected, a blood test will be done for study and a definitive diagnosis.
There is no cure for DS. Some newborns may need surgery to repair serious medical problems, like heart defects. Living at home and receiving special therapy helps children with DS achieve their full potential. Most people with the condition can actively participate in the community—at schools, jobs, and various leisure activities. Some live with family, some with friends, and some independently.
Infants with DS may take longer to feed. A child with the condition will start talking, playing, and performing other activities later than normal.
School programs designed to meet the child's special needs may help to increase learning opportunities. Children who have accomplished academic milestones may be mainstreamed into regular public school classes, with additional support as required.
Speech, physical, and occupational therapy may improve the ability to speak, walk, and perform activities of daily living.
Professional support helps a family cope with caring for a child with birth defects and intellectual disability. Mental health professionals offer help with managing emotional problems.
National Down Syndrome Congress
National Down Syndrome Society
Canadian Down Syndrome Society
Behrman RE, Kliegman R, Jenson HB. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, PA: Saunders; 2007.
DynaMed Editorial Team. Down syndrome. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/what.php . Updated September 2, 2010. Accessed November 17, 2010.
Ferri F, ed. Ferri’s Clinical Advisor 2010. Philadelphia, PA: Mosby Elsevier; 2009.
Malone FD, Canick JA, Ball RH, et al. First- and second-trimester evaluation of risk (FASTER) research consortium. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med . 2005;353:2001-2011.
National Down Syndrome Society. Associated conditions. National Down Syndrome Society website. Available at: http://www.ndss.org . Accessed July 28, 2008.
National Institute of Child Health and Human Development. Down Syndrome. National Institute of Child Health and Human Development website. Available at: http://www.nichd.nih.gov/health/topics/Down_Syndrome.cfm . Accessed July 28, 2008.
3/12/2010 DynaMed's Systematic Literature Surveillance http://www.ebscohost.com/dynamed/what.php : Carter M, McCaughey E, Annaz D, Hill CM. Sleep problems in a Down syndrome population. Arch Dis Child. 2009;94(4):308-310.
Last reviewed September 2010 by J. Thomas Megerian, MD, PhD, FAAP
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