Down Syndrome is diagnosed through a karyotype test that detects the presence of an extra chromosome 21 |File Photo
| Photo Credit: GOPINATHAN K
World Down Syndrome Day is observed as an effort to bring attention to Down Syndrome. The theme this year is ‘all about support’. Between 20-22 March, there will be a number of events at the United Nations in Geneva to mark World Down Syndrome Day, and most cities have events to mark the day too.
Everyone needs support sometimes. The support that we may need will be different for every person, and that’s just the same for people with Down Syndrome.
It is a genetic condition caused by the presence of an extra copy of chromosome 21. This additional genetic material affects physical and cognitive development, leading to characteristic features and varying degrees of intellectual disability. It is the most common chromosomal condition in the world that occurs in approximately 1 in every 800 live births. There are almost 30000 people born with Down Syndrome in India, and it is unrelated to race, nationality, religion, or socio-economic status.
Nothing that a parent did or did not do during the pregnancy causes a baby to be born with Down Syndrome. While the age of the mother can be a factor, 80% of people with Down Syndrome are born to parents under the age of 35, simply because women in that age group have the most babies. It occurs equally amongst male or female babies. People with Down Syndrome, like any other person carry more traits of their birth family than the traits of Down Syndrome.
A person with Down Syndrome cannot be referred to as a “downs kid” or a “down syndrome person.” He or she is “a person with Down Syndrome.”
How is Down Syndrome identified?
It can be identified through prenatal screening and diagnostic tests. Blood tests and ultrasounds during pregnancy can indicate the likelihood of Down Syndrome. Confirmatory tests like amniocentesis and chorionic villus sampling (CVS) provide a definitive diagnosis.
Observing the physical characteristics at birth, newborns with Down Syndrome may have distinct features such as a flat facial profile, upward-slanting eyes, a single crease across the palm, and low muscle tone. Using genetic testing to detect Down Syndrome is also becoming common these days, a karyotype test confirms the presence of an extra 21st chromosome.
Associated health conditions
Individuals with Down Syndrome may have certain health conditions, including, heart defects, hearing and vision Issues. Due to their low muscle tone, hypothyroidism is common among people with Down syndrome. Some people with Down Syndrome might also have digestive issues, including celiac disease. A weak immune system makes them more prone to infections. But thanks to medical advances persons with Down syndrome are leading longer, healthier lives today.
There are developmental and cognitive delays too. While it is true that intellectual abilities vary, early intervention and therapies help individuals achieve their full potential. Today, we have persons with Down syndrome who are artists, actors, teachers and employees across various fields. Down syndrome is no longer a taboo.
Dr. Surekha Ramachandran is president, Down Syndrome Federation of India. info@downsyndrome.in
Published – March 20, 2025 07:22 pm IST
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