Down Syndrome

Down syndrome is the most frequently occuring chromosomal disorder. Learn more about it here.

Down syndrome occurs in one of every 800 to 1000 babies, making it the most frequently occurring chromosomal disorder. When an extra copy of chromosome 21 (or part of it) is present in the egg or, less commonly, in the sperm at the time of conception, the syndrome will occur. It is not yet fully known why this error happens. So far, it could not be linked to environmental or behavioral factors, either before or during pregnancy. The risk, however, significantly increases with the age of the mother. At age 35, the risk is about one to 635 births, while at age 40, it has increased to one in 110. Worth noting is that the average age of women who give birth to children with the syndrome is 28. This is because younger women give birth more often.

Several prenatal screening tests, such as the Triple Screen and Alpha-fetaprotein Plus can accurately detect Down syndrome in 60 percent of fetuses.

Characteristics

The syndrome is associated with approximately 50 physical and developmental features. An individual with Down syndrome is likely to possess some of the following characteristics in a varying degree:

  • Mild to moderate mental retardation.
  • Low muscle tone.
  • An upward slant of the eyes.
  • A flat facial profile.
  • An enlarged tongue.
  • An increased risk of congenital heart defects, digestive tract obstruction and respiratory problems.
  • By the age of 40, all people with Down syndrome show the neurological changes of Alzheimer’s disease, and most show cognitive decline by the age of 60.
  • Babies with Down syndrome develop in most aspects like regular children, but mostly at a slightly slower rate. Early intervention programs can begin shortly after the child’s birth and cater to the infant’s development.

Living Full Lives

Because of recent medical advances and a greater understanding of the potential of those with this condition, people with Down syndrome have been able to live longer and fuller lives. Individuals with Down syndrome are being educated in their neighborhood schools, participating in community projects and finding rewarding employment and relationships.

Cure and/or Treatment?

Although there is currently no cure or preventive therapy for Down syndrome, scientists are getting closer to understanding the role that several genes on chromosome 21 play in the development and manifestation of the condition. Once these mysteries are unraveled, they hope to decode the biochemical processes that take place in Down syndrome, which would potentially enable them to treat, cure or prevent the syndrome.

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thestickman
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Posted on Sep 9, 2010
Kathleen Murphy
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Posted on Sep 9, 2010