Down Syndrome: What we should know

One of the most common genetic conditions affecting children is Down Syndrome. It was named after British Doctor John Langdon Down, who was the physician to group the features of the condition under the same umbrella. But it was French geneticist Dr Jerome Lejeunewho identified this as a genetic disorder.

So, what is Down Syndrome? Simply speaking, it happens when a human being contains 47 chromosomes instead of the standard 46. In most cases, this additional one is an extra copy of chromosome 21; therefore, ‘trisomy 21’ is an alternative name for the syndrome. Trisomy is a medical jargon denoting an extra copy of the chromosome.

Down syndrome is found around the world. According to the UN, almost one child in every 1000 live births suffers from this disorder. Scientists are still trying to figure out why exactly the extra copy occurs. 

What we do know is that it is not related to social and economic status, race, ethnicity, religion, or anything the parents did. The major risk factor is maternal age, and the likelihood of Down Syndrome increases in mothers aged 35 and older than in those younger. 

However, it must be noted that almost 50% of babies with Down Syndrome are born to mothers under 35 due to larger births in this age group.  

The symptoms of Down Syndrome may be different in individual patients. When these babies are born, they are usually smaller than others. Physically, they often share some common features, e.g., flat faces, small ears, and upward-slanting eyes. Sometimes, the tongue may stick out. 

Their growth rate is slightly slow, and they may have a short stature than kids of the same age. There is a high chance of speech delay and difficulty learning essential life skills like dressing, feeding or using the toilet.

Down syndrome affects the cognitive ability to varying degrees. Generally, all have some sort of intellectual challenges. Some children with the disorder can lead almost normal lives; others might need a little bit more attention. 

We must remember that regardless of the severity of the disorder, kids can continue learning skills at their own pace throughout their lives. We must be patient with them and provide them with the care they need.

The earlier we can start intervention for a patient with Down syndrome, the better. Interventions can include speech therapy to help them talk, physiotherapy to improve their posture and movement, and occupational therapy to facilitate their adaptation to the larger world. 

Early childhood educators can help immensely. Many of these kids have the right to specialized education, which should be made available. Counselling is always indicated, and the entire family should be involved. It is possible to help the affected children reach a reasonable quality of life with appropriate support structure and guidance.

The first-time parents hear about the diagnosis of Down Syndrome, they may go into depression. Families are unique, though and may react in different ways. There are lots of challenges for parents if one of their offspring is afflicted with this, but this is not the end of the world. 

Many families with such patients learn to cope well and are perfectly stable and happy. It is important to seek help, not hide it or stigmatize it socially. A support structure should be in place for the patients, along with proper medical facilities. 

Managing Down syndrome requires a collective effort, and with the right kind of help, these kids can become valuable members of society.

Down syndrome can be diagnosed during pregnancy through some tests. This may allow the family to prepare themselves for the baby. The critical issue here is awareness so everyone knows about the disorder. 

With that objective in mind, the UN celebrates the 21st of March as World Down Syndrome Day every year since 2012.

imtiazdmc@gmail.com