Named after John Langdon Down, Down’s syndrome is also known as Trisomy 21.  It occurs when there are 3 rather than 2 copies of the 21st chromosome.

 

It is the most commonly occurring chromosomal condition and one in every 800 babies is diagnosed with Down’s syndrome.  It occurs in people of all races and economic levels.  Life expectancy for people with Down syndrome has increased dramatically in recent decades – from 25 in 1983 to 60 today.

 

Down’s Syndrome cannot be prevented, but can be detected before birth.  The health problems that go along with DS (Down syndrome) are treatable and there are many resources within communities to help children and their families who live with the condition.

 

There are screening and diagnostic tests to help determine the presence of DS, but the screening tests are not always definitive; therefore the diagnostic tests are better.  There are 3 diagnostic tests that can be performed to determine the presence of Down’s syndrome.  These tests include amniocentesis, chorionic villus sampling (CVS), and percutaneous umbilical blood sampling (PUBS).  However, before undergoing any of these diagnostic tests, patients and their families should seek detailed genetic counselling to discuss their family history in relationship to the risks and benefits of performing these diagnostic procedures.

 

The physical effects of Down syndrome can vary widely in individuals.  While some need a lot of medical attention, many can lead healthy lives.

 

Some common physical signs of Down syndrome include:

 

  • Flat face with an upward slant to the eye, short neck, and abnormally shaped ears
  • Deep crease in the palm of the hand
  • White spots on the iris of the eye
  • Poor muscle tone, loose ligaments
  • Small hands and feet

 

There are other medical conditions that tend to go along with Down’s syndrome, such as heart, hearing, stomach and eye concerns.  Not everyone will have all of the effects; many will have variations of the symptoms.

 

Once the newborn has arrived, the Doctor will perform a blood test to confirm the presence of Down’s syndrome.  Early intervention services soon after birth will have beneficial and tremendous impact on the child and the family.  Learn from professionals and others in similar situations on what to do, how to cope, as well as getting support and as much information as you can to help you and your family live to the fullest.  Quality educational programs, a stimulating home environment, good health care, and positive support from family, friends and the community enable people with Down syndrome to develop to their full potential and lead fulfilling lives.

 

Some resources to look at for more detailed information are:

 

The National Down’s syndrome Society

 

http://www.ndss.org/index.php

 

Downsyndrome.com

 

http://www.downsyndrome.com/how-to-raise-a-child-with-down-syndrome.html

 

Down syndrome Association of Toronto

 

http://dsat.ca/

 

 

Written by Renée MacLachlan: November 2008

**Please note: that this is just to serve as an information resource, this is not to be used for diagnosis.  If you have any medical concerns or questions, please see your doctor for a proper diagnosis.