Every new-born baby is precious and beautiful, including those born with Down syndrome. They have the exact same needs as all new babies and most will eventually be able to do the things that other babies and children do; they just take longer to learn how.

What causes Down syndrome?

The exact cause of Down syndrome, also known as Trisomy 21, is not known and there is no way of preventing the syndrome from occurring. What is known is that a normal conception involves genetic information which is inherited from both parents in the form of 46 chromosomes (23 from the mother, 23 from the father) while babies with Down syndrome have an extra chromosome 21, giving them a total of 47 chromosomes instead of 46. It is this extra genetic material that they are born with that causes the physical features and developmental delays associated with Down syndrome.

Tests

There are two types of prenatal tests used to determine Down syndrome in a foetus:

    • Screening tests, that do not give a definitive answer but aid parents in deciding to do more tests
    • Diagnostic tests that are about 99% accurate but because they are performed inside the uterus the risk of miscarriage and other complications are raised.

If no prenatal tests are done and a doctor suspects Down syndrome in a new-born baby based on the infant’s physical characteristics, a karyotype (tissue or blood sample to show chromosomes grouped by shape, number and size) is performed to confirm the diagnosis.

Symptoms and characteristics of Down syndrome

The severity of symptoms associated with Down syndrome varies and while some children may need constant medical attention, others may lead happy, care-free and healthy lives. The life expectancy for an individual with Down syndrome has increased considerably and today a person with Down syndrome who is in good health will live on average to the age of 55 and even far beyond.

Physical features associated with Down syndrome

Characteristic facial features such as a flattened nose, a single crease in the palm of the hand, upward slanting eyes and small mouth and ears are typical of children with Down syndrome. Physical development is on average much slower than normal and children with Down syndrome may never reach an average adult height. This doesn’t mean that they are not just as cute and cuddlesome as any other child of their age; they are!

Developmental delays associated with Down syndrome

Delayed mental and social development problems, including poor judgment, impulsive behaviour, short attention span and slow learning are common in children with Down syndrome. However, these children are also known for their mostly happy and loving disposition.

“My first reaction when my daughter was born with Down syndrome was one of some shock and confusion. After the first few weeks, calmer emotions took over and I discovered what a lovely little child we had and all the fuss was forgotten. Now nearly seven years later, I can’t even begin to describe how much fun and happiness our child has brought us”, comments a father.

Medical conditions associated with Down syndrome

Serious medical conditions associated with Down syndrome include heart defects, early-onset Alzheimer’s disease and dementia, vision impairment and leukaemia.

Treatment

Although there is no specific treatment for Down syndrome, the symptoms and physical problems associated with the syndrome may be treated through surgery, medication and a supportive lifestyle. This includes accepting all the help you can get from teachers, physical, speech and occupational therapists, friends, family and grandparents and your local Down syndrome organisation.

Here are the contact details of Down Syndrome South Africa (DSSA):
Tel: 0861- DOWNSA (0861 369 672)
+27 (0)11- 615-2990
Fax: +27 (0)11- 252-5323
e-mail: dssaoffice@icon.co.za

Good news for the future

Great strides have been made in researching the syndrome and at least two clinical trials are currently studying the possibility of medication restoring disabled chemical pathways in the brain. The latest breakthrough is that geneticist Roger Reeves of Johns Hopkins University may have stumbled on another drug target; “this one with the potential to correct the learning and memory deficits so central to the condition”.

 

Sources

A parent’s guide to Down syndrome: step by step into the future. 2014. Retrieved from: http://www.downsyndrome.org.za
http://kidshealth.org
http://www.medicinenet.com
http://www.ncbi.nlm.nih.gov
Laidman, J. 2014. New drugs may transform Down Syndrome. Retrieved from:
http://www.scientificamerican.com
What are common treatments for Down syndrome? 2014. Retrieved from: http://www.nichd.nih.gov

 

Revised by M van Os