Down syndrome: understanding the health challenges

Posted on 23 March 2016

Some children born with Down syndrome (or Down’s syndrome) can lead relatively normal lives and even support themselves eventually while others will require lifelong care. There are associated health risks to this genetic disorder which parents are advised to prepare themselves for. 

It’s just one extra chromosome, but it makes all the difference. If an embryo has three copies of the 21st chromosome (instead of the usual pair), they’ll be born with Down syndrome. That extra chromosome (or part thereof) occurs by chance, particularly in high risk mothers such as those over 40 or 50. The condition causes a number of medical challenges beyond the physical and intellectual differences.

‘Children with Down syndrome are more prone than their peers to suffering from heart defects,’ says Dr Hennie du Plessis, a paediatrician at Mediclinic Louis Leipoldt. In fact, about 50% of children with Down syndrome have a heart defect, which might require surgery. Down syndrome children without heart defects are more likely to live to an old age.

‘Children born with Down syndrome also tend to have low thyroid function as well as a higher risk of blood cancers such as leukemia,’ Dr du Plessis adds.

Down syndrome is often associated with a higher risk for gastrointestinal blockage, skin problems, poor vision and chronic ear infections.

‘An impaired immune system is another risk,’ adds Dr du Plessis. ‘So their susceptibility to infection and infectious diseases is another factor to consider (making proper hand hygiene even more of a priority).’

‘Due to the nature of their upper vertebrae, people with Down syndrome are also at a higher risk for neck and spinal column injuries,’ warns Dr du Plessis. ‘That means certain activities could be prohibited, for example scrumming in a rugby match while low impact activities like swimming are still advised.’

Having gone through the medical checklist, Dr du Plessis suggests that parents of a child with Down syndrome should also look into the child’s developmental and cognitive growth, and try to determine their level of intellectual potential.

‘I always advise parents of Down Syndrome children to meet with other parents and children in similar situations, through Down Syndrome South Africa, where they can learn from other people’s experiences. Get as much information as possible, so you can make an informed decision about your child’s educational placement and future career opportunities.’

If you’re pregnant or intending to get pregnant and are worried about your risk for giving birth to an infant with Down syndrome, you could consider various non-invasive and low risk prenatal screening options in order to be prepared.

In the interest of our patients, in accordance with SA law and our commitment to expertise, Mediclinic cannot subscribe to the practice of online diagnosis. Please consult a medical professional for specific medical advice. If you have any major concerns, please see your doctor for an assessment. If you have any cause for concern, your GP will be able to direct you to the appropriate specialists.