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Minnesota DeafBlind Technical Assistance Project

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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.

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