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Down Syndrome Medical Information
Down
syndrome is caused by a chromosome abnormality which is called Trisomy
21. This means that the child is born with 3 chromosome #21s. This extra
chromosome can be free standing or hooked onto another chromosome, in which case
it is called a translocation. The major problems caused
by this condition are - Characteristic appearance of face and hands
- Delayed
cognitive development
- Chronic middle ear infections
- Cataracts
- Strabismus
(crossed eyes) in 60%
- Skin problems, particularly rough skin in 90%
- Constipation
- Gastroesophageal
reflux
- Obstructive sleep apnea (blockage of the upper airway at night
leads to moments of not breathing)
- Low normal height or short
- Heart
disease in 40%
- Orthodontic and dental abnormalities
Less
common problems include - Sensorineural hearing loss
- Glaucoma
(increased pressure inside the eyeball)
- Hypothyroidism (low thyroid)
- Atlantoaxial
instability in about 15% (unstable spine at the nape of the neck because the bone
that sticks up and secures it within the vertebra above is too short)
- Seizures
in 5-10%
- Celiac disease (sensitivity of the gut to gluten) in 4-7%
- Leukemia
(rare but much more common than in the general population)
- Alzheimer-type
dementia in later life.
Education: Though a vast amount of
literature exists on Down syndrome, few web sites or articles say anything about
deafblindness. Nevertheless, we have many students with Down syndrome on our Minnesota
census. That these kids have a lot of middle ear infections has been recognized
for many years; however, sensorineural hearing loss is rarely mentioned.
An
article about vision and hearing loss in Down syndrome should be helpful
to both parents and educators: http://www.tsbvi.edu/Outreach/seehear/summer98/downsynd.htm Helpful
web sites: http://www.ds-health.com/trisomy.htm Discussion
of trisomy 21 and the chromosome abnormalities.
http://www.sharpseniors.com/a/down-syndrome-statistics-and-resources
Down
syndrome web page with contributions by parents and professionals. This site
has a listing of societies worldwide that deal with Down syndrome. http://www.ndss.org/
National Down syndrome Society home page. Back
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