Saturday, July 30, 2011

What is Down Syndrome?

Well, I wasnt completely aware of what this diagnosis exactly meant and for years have done research on what Down Syndrome is and how its developed in all these years etc... Here is what I found out so far online..

Medicaly known as Trisomy 21,  it is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866. Down syndrome was identified as a chromosome 21 trisomy by Dr. Jérôme Lejeune in 1959. Down syndrome in a fetus can be identified through amniocentesis during pregnancy, or in a baby at birth.
Down syndrome is a chromosomal condition characterized by the presence of an extra copy of genetic material on the 21st chromosome. The effects and extent of the extra copy vary greatly among people, depending on genetic history, and pure chance. The incidence of Down syndrome is estimated at 1 per 733 births, although it is statistically more common with older parents (both mothers and fathers) due to increased mutagenic exposures upon some older parents' reproductive cells.
Often Down syndrome is associated with some impairment of cognitive ability and physical growth, and a particular set of facial characteristics. Individuals with Down syndrome tend to have a lower-than-average cognitive ability, often ranging from mild to moderate disabilities. Many children with Down Syndrome who have received family support, enrichment therapies, and tutoring have been known to graduate from high school and college, and enjoy employment in the work force. The average IQ of children with Down syndrome is around 50, compared to normal children with an IQ of 100. A small number have a severe to high degree of intellectual disability.
Individuals with Down syndrome may have some or all of the following physical characteristics: an abnormally small chin, an unusually round face, protruding or oversized tongue, an almond shape to the eyes caused by an epicanthic fold of the eyelid, upslanting separation between the upper and lower eyelids, shorter limbs, a single instead of a double crease across one or both palms, poor muscle tone, and a larger than normal space between the big and second toes.
Health concerns for individuals with Down syndrome include a higher risk for congenital heart defects, gastroesophageal reflux disease, recurrent ear infections that may lead to hearing loss, obstructive sleep apnea, and thyroid dysfunctions.

After reading all this information it began to scare me that there might be bigger problems ahead. I was given a referal to a book I read called Babies with Down Syndrome: A new parent's guide. It really gave me the inspiration and the knowledge I needed to give my best care for my son. We signed up for a program called Early Intervention and he started to get developmental, occupational, and physical therapies to help him develop in the ways that he should. He started the program in December 2008 and ended in July 2011. He is ding much better, still not where we want him to be but he is working hard on getting there.

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