What is Down syndrome?

Down syndrome is a genetic condition caused by an extra chromosome, number 21. It is sometimes called Trisomy 21. This extra genetic material causes delays, from mild to severe, physically and mentally.
Approximately 1 in 800 babies are born with Down syndrome. This number rises with the age of the mother. In a mother who is thirty-five, 1 in 350 babies are born with Down syndrome. A mother whose age is forty, the baby has a 1 in 100 chance of being born with Down.

Some physical characteristics typically seen in children with Down Syndrome are: flat facial profile, upward eye slant, small ears, decreased creases in the palm of the hand, white spots on the iris in the eye, small hands and feet, and protruding tongue.

Hypotonia or low muscle tone is normally seen with Down syndrome. This interferes with sucking for feeding as well as gross and fine motor development. Babies and/or children with Down syndrome are often said to be “floppy”. Delays in speech, self-care skills, and cognition are often seen as well.

About half of children born with Down syndrome have a congenital heart defect. They have increased risk of pulmonary hypertension. Half also have difficulties with hearing or vision (cataracts, glaucoma). Also, thyroid disease and gastrointestinal problems and upper neck abnormalities (instability of the upper cervical spine) often plague those born with Down syndrome.

Other helpful references for information on Down Syndrome include: National Association for Downs Syndrome, Kid's Health, and National Institute of Health.

 


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