Wednesday, September 24, 2008

What Kind of Down Syndrome?

Brogan 4 1/2 months
Family doesn't know what Down Syndrome is and want to know what kind? They really are asking "what's the severity?"

Well for every kid it's different. But, this is what I've read:

2.1 Trisomy 21
2.2 Mosaicism
2.3 Robertsonian translocation
2.4 Duplication of a portion of chromosome 21

Brogan has Trisomy 21. So whatever type Brogan has - he is missing a lot of the typical features of Down Syndrome that doctors look for.

Definition of Down syndrome features
Down syndrome features: Children with Down syndrome have multiple malformations and mental impairment due to the presence of extra material from chromosome 21.
Among the more common physical features are hypotonia (floppiness), small head with brachycephaly, epicanthic folds across the inside corners of the eyes, upward outward slanting palpebral fissures (eye slits), Brushfield spots in the iris, small mouth, small ears, excessive skin at the nape of the neck, a single transverse palmar crease, and short fifth finger with clinodactyly (incurving). A wide space, often with a deep fissure between the first and second toes, is also common.
There is an increased risk of congenital heart defects (50%); leukemia (<1%); Hirschsprung disease with absence of nerves from the bowel (atresia (12%); eye disease (60%), including cataracts (15%) and severe refractive errors (50%); acquired hip dislocation (6%); obstructive sleep apnea (50%-75%); and thyroid disease (15%). There is no increased risk of solid tumors.
There is mental impairment. The degree is variable, ranging from mild (IQ: 50-70) to moderate (IQ: 35-50), and only occasionally to severe (IQ: 20-35).
The social quotient may be improved with early intervention techniques, although the level of function is exceedingly variable. Children with Down syndrome often function better in social situations than might be expected from their IQ.
An excellent set of guidelines for the health care of children with Down syndrome is available from the American Academy of Pediatrics.


This comes from: http://www.medterms.com/script/main/art.asp?articlekey=16226


So how is Brogan doing? Read and Learn. The doctors have not noted any of the features listed and are very surprised at his stength and intelligence.

I told Dusty that instead of rating as a genius he's probably have to settle for normal. Dusty scored two points below the IQ requied for MENSA.

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