Monday, December 18

Down’s Syndrome In Today’s World

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Down’s syndrome is a chromosomal abnormality that results in a mental handicap and a recognized physical appearance. It’s original name was mongolism as the appearance of affected people resembled Mongolian. Researchers discovered in 1959 one too many chromosomes 47 instead of 46. Also the chromosome affected is number 21 so it later was called trisomy 21.

Symptoms are:

Sloping eyes

Folds of skin on either side of the nose covering inner corner of eyes

Small face and features

Tongue is large and tends to protrude

Flattened back to head

Short and broad hands

Mental handicap varies

Affectionate children

Friendly and cheerful

Some have heart defects at birth

Higher risk for intestinal atresia

Congenital hearing defects and ear infections

Higher risk for acute leukemia

In adults with Down’s syndrome greater risk to atherosclerosis

 

 

 

The reason’s for the chromosomal abnormality is mostly because the two number 21 chromosomes in the parent cell goes into daughter cells during the first stage of sperm or egg cell formation. If these are used during fertilization the result is Down’s syndrome. Seems more likely in women over 35 suggesting that egg formation is more a cause than sperm formation. The less common cause is a chromosomal disorder in either parent known as translocation where the number 21 chromosome has joined with another chromosome leaving them to pass it on to their children.

The incidence of affected babies grow as the age women becoming pregnant increases to over 35. Tests can be run during the pregnancy for Down’s syndrome. A chromosome analysis of fetus cells can be done after amniocentesis or chorionic villus sampling . The parents will have choice of termination of the pregnancy or prepare for caring for the handicap child.

There is no cure. The child can make the most out of life with constant education and environmental stimulation. Some children must be institutionalized. Most Down’s syndrome children are happiest in a warm loving family that is sympathetic to their needs. The advances in technology have increased their chances of survival past the teen years. They now can survive until early middle age and live a close to normal life as it is possible with their handicap.

 

 

 

 

 

 

 

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