What is Down syndrome

What is Down syndrome?
What is Down syndrome?

Down syndrome, a prevalent genetic disorder, was initially identified by John Langdon Down in 1866, hence its namesake. It manifests during fetal development with no known cure.

While Down syndrome affects all ethnic groups equally, it is slightly more prevalent in boys than girls. Although it is a genetic disorder, the precise cause of this genetic anomaly remains unclear. Advanced maternal age is the primary risk factor, with a heightened risk observed as the mother’s age increases, especially in women aged 45 or older.

The syndrome leads to delays in both physical and mental development in affected infants, often resulting in moderate to severe learning difficulties. Additionally, it raises the likelihood of various other health conditions, some of which can be life-threatening. Common associated disorders include congenital heart disease, sight problems (such as squints, lazy eye, eye infections, and cataracts), hearing problems, speech and language issues, and Alzheimer’s disease, a common cause of dementia in older individuals.

Screening tests are available to identify Down syndrome during pregnancy, although they are not foolproof. Even with a negative result, there remains a risk of the baby having Down syndrome. Screening is recommended for all pregnant women to assess the risk accurately. If screening suggests the presence of Down syndrome, further tests may be conducted for confirmation, allowing parents to make informed decisions regarding the pregnancy.

Treatment for a child with Down syndrome typically involves comprehensive intervention programs addressing disabilities and learning difficulties. This may include physiotherapy, cardiology assessments, speech therapy, occupational therapy, and ophthalmology consultations. With appropriate management, children with Down syndrome can lead healthy, active, and relatively independent lives.