What is Down Syndrome? The genetic condition that affects children

Approximately, 1 in 800 children are born with this condition annually in India.

Children affected by the condition are typically slower to speak than others and usually have an IQ (a measure of intelligence) in the mildly to moderately low range.

Usually, people are born with 46 chromosomes, but those having Down syndrome have an additional copy of chromosome 21, also known as Trisomy.

“The extra copy of this chromosome health problems in individuals ranging from physical, developmental and cognitive issues. Testing for Down syndrome can help identify this disorder in unborn babies,” said Dr Archana Dhawan Bajaj, Gynaecologist, Obstetrician and IVF Expert, Nurture IVF Clinic, New Delhi.

Dr Aakaar Kapoor, CEO and Lead Medical Advisor, City X Ray & Scan Clinic, said that children with Down syndrome may experience difficulties with their mental and physical development as a result of this additional copy, which alters how their body and brain grow.

“Each person experiences the condition differently. In some, it might show up as mild to severe learning difficulties, while others may have severe health problems like heart problems and gastrointestinal ailments. Additionally, children affected with the condition typically are slower to speak than other kids and usually have an IQ (a measure of intelligence) in the mildly-to-moderately low range,” Dr Aakaar Kapoor told IndiaToday.In.

The condition can be detected before birth through prenatal testing.

Those having Down syndrome have an additional copy of chromosome 21, also known as Trisomy. (Photo: Getty Images)
Screening tests to assess the likelihood of Down Syndrome can be performed in the first and second trimester of pregnancy.

After birth, the syndrome may be diagnosed by experts through physical examination.

However, a blood examination can also confirm the diagnosis. The earlier the diagnosis is made, the better it is, as proper medical and developmental support can be given to the child and the family.

“An ultrasound and blood test in the first trimester can be used to screen for Down syndrome as early as 11 to 14 weeks of pregnancy. A blood test known as the multiple marker serum screening test can also be used for screening between 15 and 20 weeks. The sequential screen, which combines first and second-trimester screening tests, is a choice made by some women,” said Dr Archana Dhawan Bajaj.

A mother’s age, blood test results, and foetal ultrasound measurements are all taken into account by each of these tests.

Dr Bajaj said, “These tests are useful, but they only provide detection rates of 80-90% for cases of Down Syndrome. They cannot identify every case.”

World Down Syndrome Day is celebrated every year on March 21 to raise awareness about this condition and to reduce the societal stigma attached to it.

“Early detection and improved healthcare have contributed to better understanding and support for those affected with Down syndrome in India,” concluded Dr Kapoor.

This rare genetic disease in children has a treatment. It costs $4.25 million