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Down's syndrome: Symptoms, facts and local groups
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Down’s syndrome was first described in 1866. The cause of Down's syndrome was discovered in 1959. It is relatively well known, with distinctive characteristics such as mental retardation, distinguishing facial features, and other traits. In the United States, It in 1 in 800 live births, and approximately 6000 children are born with Down's syndrome each year. About 85% of infants with Down's syndrome survive 1 year, and 50% of people with Down's syndrome live longer than 50 years. It is believed that people with Down's syndrome have always existed. However, it was not until 1866 that the English doctor, John Langdon Down, first described the condition, which subsequently took his name.
Down's occurs when there is an extra copy of chromosome 21. This is called Trisomy 21. Thus making forty seven chromosomes instead of the typical forty six. Other forms of the condition, which are much rarer, have been discovered, such as Translocation and Mosaicism. Approximately 94% of people with Down's syndrome have standard trisomy 21, 4% have a translocation and 2% mosaic Down's syndrome.
Some studies suggest that women with variant genes that affect how their bodies metabolize the B vitamin folic acid may be at increased risk for having a baby with Down’s. Women over the age of thirty five are also thought to have an increased risk however 80% of children who have Down’s syndrome are born to mothers under the age of thirty five.
Symptoms can range from mild to severe. Though the appearance of symptoms are all relativity the same. A small head circumference, flatness across the bridge of the nose and a small mouth making the tongue appear large. Other complications are a higher risk of acute lymphocytic leukemia, heart murmers, obstructed G.I track, and thyroid disorders.
There is no specific treatment that can be done. Although certain heart defects may require surgery. Special education and training, speech therapy, and physical therapy can help.
People with Down’s syndrome are living longer than ever, many will live independently and hold jobs. Women with Down’s can and have had children. People with Down's syndrome are perfectly capable of forming all types of relationships with people they encounter in their lives, be it friendship, love or dislike.
There are some support groups in our local area such as the East Hartford Teen Special needs Group sponsored by the East Hartford Parks and Recreation Department, this program is for children ages 13 and older with special needs. The group meets on Friday nights and participants in a variety of social activities, such as bowling and dancing. For more information please contact Dianne at 860-528-1458.
For more groups in your local area visit http://www.cpacinc.org/support.htm
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