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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 7 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.nas.com/downsyn/ 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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