Down Syndrome: Understanding the basics

Down Syndrome is a genetic disorder caused by abnormal cell division during the early stages of the development of the foetus. [iStockphoto]

You might have seen some children or even adults with distinct facial features, characterised by short stature, flattening of the back of the head, flattening of the bridge of the nose, small jaw, a tongue that tends to stick out, almond-shaped eyes that slant upwards, a short neck, relatively small hands and feet and a single crease across the palm. These features are sometimes indicative of Down Syndrome.

Down Syndrome is a genetic disorder caused by abnormal cell division during the early stages of the development of the foetus. It can cause mild to significant physical and developmental problems, and those affected usually require early intervention from specialised doctors to improve their quality of life.

Dr Katherine Oyieke, Consultant Paediatric Neurologist at Aga Khan University Hospital Nairobi, breaks down some frequently asked questions about Down Syndrome.

Dr Katherine Oyieke, Paediatric Neurologist. [Courtesy]

What are the symptoms of Down syndrome?

Symptoms of Down syndrome vary from one person to another. In some individuals, the physical symptoms and intellectual problems might be severe, yet in others not too severe.

There are however distinct features that those who have the disorder possess. The most common of these are the facial features. Most patients have a flattened face, a small head, unusually shaped ears, up-ward slanting palpebral fissures and a protruding tongue.

While babies born with Down Syndrome are born of normal size, they remain shorter than other children of the same age as they grow. This is also another distinct characteristic of babies with Down Syndrome.

Is it possible to tell if the baby will have this condition during pregnancy?

There are screening tests for Down Syndrome available in the first trimester of pregnancy. These entail a blood test and an ultrasound.

Additionally, there are more advanced diagnostic tests employed that entail analysing the cells of the placenta or the umbilical cord to establish a diagnosis of Down Syndrome while the foetus is in the womb.

Are there risk factors for Down syndrome?

While the specific cause of the abnormal cell division that leads to Down Syndrome remains elusive, some parents have a higher risk of having a baby with Down Syndrome. These risk factors include being a carrier of the gene that carries the chromosome mutation that causes Down Syndrome. This gene can be passed down to the children if either the mother or father has it.

Also, for parents who have had one child with Down Syndrome, there is a higher risk of having another child born with it.

Conceiving at an advanced maternal age is another risk factor for having a baby born with Down syndrome. This is because older eggs have a higher risk of abnormal cell division.

What are the complications associated with Down Syndrome?

Most children born with Down Syndrome also have heart problems that may require surgery during the early stages of life.

Some are born with abnormalities of the gastrointestinal tract, which puts them at risk of developing digestive problems such as reflux or gastrointestinal blockage.

Another complication that may arise among patients with Down syndrome is the increased risk of developing autoimmune disorders and thyroid abnormalities.

They are more likely to develop infectious diseases such as pneumonia.

Individuals with Down Syndrome must get routine medical care to ensure they maintain a healthy lifestyle.

Can Down Syndrome be prevented?

Unfortunately, there is no way to prevent Down Syndrome.

If you have had a baby with Down Syndrome, and you are planning to have another baby, it is important to consult a specialist to discuss your fears and the possibility of having another baby with Down Syndrome.