National Down Syndrome Day, 20 October 2012

Down Syndrome is a relatively common disorder of the chromosomes that may have an impact on a child's mental ability and physical growth. It results in genetic abnormalities and is often associated with a particular appearance in which, for example, the inner corner of the eyes may be rounded rather than pointed. It affects some individuals much more severely than others.

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, this article explores the subject of Down Syndrome this National Down Syndrome Day, 20 October 2012.

What is Down Syndrome?
People with Down Syndrome, or Down's Syndrome, as it is also widely known, were born with an extra chromosome on the 21st chromosome. It is quite a common condition and the leading cause of genetic abnormalities. It affects around one in every 800 births.

How are children affected?
Down Syndrome expresses itself in many diverse ways and each individual is affected differently. On the whole people with Down Syndrome have a shorter life expectancy, although today's medical interventions are changing this and increasingly more of those who are affected are living longer lives of improved quality.

Down 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.

Who is at risk of having a Down Syndrome baby?
Although women of all ages can have a Down 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 do without the slightest problem, but they should be aware of their much higher risk of developing a Down Syndrome baby. Women over the age of 40 who are thinking of having a child should discuss the risks with their doctor.

Screening and diagnosis
Down Syndrome is increasingly being detected by standard prenatal tests and by screenings of would-be mothers who are at higher risk of developing a baby with the condition (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 Syndrome.

After birth doctors can often diagnose Down 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
Treatment, if it is necessary, depends upon how the individual baby is affected by the condition. Heart defects and gastrointestinal blockages may require surgery soon after birth.

Babies with Down Syndrome should be screened for certain medical conditions. These screenings include:

• Eye examinations every year in infancy
• Hearing tests every six to 12 months depending on age
• Dental exams every six months
• X-rays of the upper or cervical spine between the ages of three to five years
• Pap smears and pelvic exams beginning in puberty or by the age of 21

Every parent's choice
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 difficult decision particularly as there is no way to know to what degree the baby may be affected by health problems and cognitive defects.

A Down Syndrome child that requires extensive treatment may prove a 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 Syndrome children deserve a chance at life as much as any other child. Needless to say, parents have the right to choose what is best for them and their particular situation.

For any GEMS member queries please phone the GEMS call centre on 0860 00 4367 or visit our website at www.gems.gov.za. GEMS will assist you in every way possible to ensure your family's health and wellbeing.

Sources:
1.Down Syndrome South Africa Website www.downSyndrome.org.za.
2.MedlinePlus Medical Encyclopedia, ‘Down Syndrome', www.nlm.nih.gov/medlineplus/ency/article/000997.htm.