Down syndrome is a set of mental and physical symptoms resulting from an extra copy of Chromosome 21. A normal fertilized egg has 23 pairs of chromosomes. Most people with Down syndrome will have an extra copy of Chromosome 21. This extra copy changes the body’s and brain’s normal development.
The symptoms range from mild to severe. All people with Down syndrome have some physical and mental features in common.
In general, mental development and physical development are slower in people with Down syndrome. People with this syndrome usually have IQs that fall in the mild to moderate range of mental retardation. There may also be delayed language development and slow motor development.
Common physical signs include:
• Flat face with an upward slant to the eye
• Short neck
• Abnormally shaped ears
• Deep crease in the palm of the hand
• White spots on the iris of the eye
• Poor muscle tone
• Loose ligaments
• Small hands and feet
A variety of other health conditions often seen in people with Down syndrome include:
• Congenital heart disease
• Hearing deficits
• Intestinal problems
• Celiac disease
• Eye problems
• Thyroid dysfunctions
• Skeletal problems
• Dementia
Are there effective treatments for Down syndrome?
• It is not a condition that can be cured
• Early intervention can help many people with live more productive lives
• Speech therapy is often beneficial
• Occupational therapy and exercises for gross and fine motor skills is helpful
• Special education and attention in school is helpful
Are there women at a higher risk to deliver Down syndrome babies?
• As a woman gets older, the chance of having a baby with the condition increases
• Because more younger women have babies, most babies with Down syndrome are born to women under age 35
Many health care providers recommend women over age 35 to have prenatal testing for the condition.
Other high risk situations include:
• Parents who have already had a baby with Down syndrome or who have abnormalities in their own chromosome 21
Is there a test to confirm the condition?
• Once the baby is born, a blood test can confirm whether or not the baby has Down syndrome
For more information:
You can receive a 20-page brochure entitled “Facts about Down Syndrome,” in PDF form online at the National Institute of Child Health and Human Development web site or in print by writing to:
National Institute of Child Health and Human Development, NIH, DHHS (1997)
Facts About Down Syndrome (97-3402)
Government Printing Office
Washington, DC
Source: National Institute of Child health and Human Development
Disclaimer: These statements have not been evaluated by the Food and Drug Administration. The information in this article is not intended to diagnose, treat, cure or prevent any disease. All health concerns should be addressed by a qualified health care professional
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By Connie Limon Nursing Student
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