Down's Syndrome is a disorder of the chromosomes that is usually associated with some impairment of a child's mental ability and physical growth. It is also often associated with a particular appearance in which, for example, the inner corner of the eyes may be rounded rather than pointed. Down's Syndrome may manifest itself in a variety of ways in different people and can be mild through to severe.
People with Down's Syndrome, or Down Syndrome, as it is also widely known, have an extra chromosome on the 21st chromosome. It is quite a common condition and the leading cause of genetic abnormalities. It affects around 1 in every 800 births.
As part of the Government Employees Medical Scheme's (GEMS) ongoing effort to educate our members and future members on a range of healthcare topics, we would like to provide you with some information on Down's Syndrome.
Although women of all ages can produce a Down's Syndrome baby, the risk has been shown to increase as women get older. The risk for a woman of 40 years of age is around 16 times greater than that of a 25 year old. This is not to say that older women should not have children; many thousands do without the slightest problem, but they should be aware of their much higher risk of developing a Down's Syndrome baby.
Down's Syndrome expresses itself in many diverse ways and each individual is affected differently. On the whole people with Down's Syndrome do not live as long, although today's medical interventions are changing this and increasingly more sufferers are living longer lives of improved quality.
Down's Syndrome children often have developmental disabilities, slower than normal physical development, lower than average cognitive abilities and some have birth defects. They tend to have a higher risk of heart defects (about half will have heart problems) and respiratory illnesses. Some suffer gastrointestinal problems and blockages.
After birth doctors can often identify Down's Syndrome based on the baby's appearance. The diagnosis may be confirmed with a blood test. If this is confirmed a doctor will do some other tests to check for heart and cognitive defects, and x-ray the chest and gastrointestinal tract.
Treatment, if it is necessary at all, depends upon how the individual baby is affected. Heart defects and gastrointestinal blockages may require surgery soon after birth.
According to the MedlinePlus Medical Encyclopedia, babies with Down's Syndrome should be screened for certain medical conditions. These screenings include:
Down's Syndrome is being detected increasingly more often by standard prenatal tests, and by screenings of would-be mothers who are at higher risk of developing a Down's Syndrome baby (i.e. a woman over the age of 40). Some screening tests are invasive and carry a very small risk of causing miscarriage. Before the birth it is usually not possible for doctors to predict exactly how and to what degree a baby will be affected by Down's Syndrome.
The issue of screening for Down's Syndrome has become a highly controversial one because, on discovering that their foetus has the condition, many parents elect to have it aborted. Research conducted in the United Kingdom recently indicates that as many as nine out of 10 women there are deciding to abort their foetuses with Down's Syndrome. This despite the fact that many people with Down's Syndrome lead most fulfilling and productive lives.
Many of those mothers who have the choice as to whether or not they should have a Down Syndrome child often feel they face a most agonising decision. As noted earlier, there is no way to know to what degree the child may be affected by health problems and cognitive defects. A Down's Syndrome child that requires extensive treatment may prove an overwhelming drain on the financial and psychological resources of parents, and many parents today feel that it would be irresponsible to proceed with such a pregnancy. However, other people would argue that Down's Syndrome children are as much a gift as any other child is and should be afforded a chance at life. Either way it is a decision that should not be taken lightly.
Down Syndrome South Africa, a non-profit organisation working to improve the quality of life of people with the condition, says that it does not consider Down's Syndrome a reason for terminating a pregnancy. "People with Down's Syndrome do lead full and rewarding lives and make a valuable contribution to our society," points out the organisation. "However we realise that parents need to make the right decision for themselves."
"The Association accepts that prenatal testing for Down Syndrome is becoming a routine part of antenatal care. Any diagnostic test, which can give a definite result early in pregnancy, without the risk of miscarriage, is considered to be more desirable than those presenting a risk."
"We strongly believe that any programme of testing for a genetic condition must be accompanied by non-directive counselling," adds the Association. "Individuals can then make a decision based on full and accurate information. Appropriate support must be provided regardless of the choices made."
World Down Syndrome Awareness Day is held on 21 March every year, which also happens to be Human Rights Day in South Africa.
If you have any more questions regarding Down's Syndrome you can phone the GEMS call centre on 0860 00 4367 or send a SMS to 083 450 4367. GEMS will assist you in every way possible to ensure your family's health and well-being.
Sources:
Down Syndrome South Africa Website www.downSyndrome.org.za.
MedlinePlus Medical Encyclopedia, ‘Down Syndrome', www.nlm.nih.gov/medlineplus/ency/article/000997.htm.
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