Embracing Extra Chromosomes

 Individuals with Down Syndrome face health challenges, stigma, and limited care, but early intervention and inclusion can transform their lives.

When Arjun and Meera held her newborn for the first time, they marveled at his tiny fingers, his soft skin, and the way his almond-shaped eyes blinked up at her. When his little tongue stuck out slightly, she chuckled, thinking it was just one of those adorable baby quirks. But as the years passed, the parents began noticing little things—like the tiny white spots in his iris and the way his milestones seemed delayed compared to other babies. A quiet worry began to grow in their heart. It was during a routine visit to the pediatrician that Arjun and Meera’s world shifted.

Their story mirrors that of thousands in India, where an estimated 23,000–29,000 children with Down Syndrome are born annually and only 44 per cent of them survive, according to separate studies by the Indian Journal of Pediatrics (2020) and AIIMS Rajkot (2023).

For parents like Arjun and Meera, the journey of raising a child with Down syndrome in India is fraught with emotional, financial, and social challenges. Limited access to specialized healthcare, a lack of inclusive education, and societal stigma make everyday life a battle.

Down Syndrome, caused by an extra copy of chromosome 21, remains India’s most common chromosomal disorder. While awareness has grown, gaps persist.

“Early intervention is transformative. Babies enrolled in speech or motor therapy by six months show remarkable progress. With the right therapies, children with Down syndrome can develop motor and cognitive skills that allow them to lead semi-independent lives,” Dr. Vijay Sharma, Associate Director & Head – Pediatrics Neurology & Child Development, Asian Hospital

 More Than Just a Genetic Condition

Individuals with Down syndrome often experience neurological challenges, including delayed cognitive development, lower muscle tone, and a higher risk of conditions like epilepsy and early-onset Alzheimer’s disease. These challenges can affect memory, learning, and motor skills.

“Recent research suggests that neurological interventions and targeted therapies—such as speech and occupational therapy—can significantly improve their cognitive function and quality of life. The focus should remain on early intervention, personalized care, and support systems to enhance their learning and adaptability.” Dr. Praveen Gupta, Principal Director & Chief of Neurology, Fortis Hospital

Patients with Down syndrome also face severe health complications. Congenital heart disease affects more than half of the patients, significantly reducing life expectancy if untreated.

“Nearly 60% of children with Down Syndrome face congenital heart defects (CHD), a critical concern. Many of these children require corrective heart surgery within the first few years of life. Delays in diagnosis can be life-threatening,” Dr. Ravi Prakash, Senior Consultant Cardiology, PSRI Hospital.

 Mental Health Toll on Families

Beyond physical health, Down syndrome also brings mental health challenges—not just for the individual, but also their caregivers. About 56% of such patients suffer from psychiatric disorder, and attention deficit and hyperactivity disorder is the most common diagnosis (Perspective in Psychiatric care, 2023).

“Individuals with Down Syndrome often face anxiety and behavioral challenges, while parents experience significant stress. Psychiatric care helps manage these issues, improving emotional well-being for both the child and family.” Dr. Sneha Sharma, Consultant, Psychiatry and Drug Deaddiction, Aakash Healthcare.

 Acceptance over Stigma

Despite the struggles, there is hope. Emerging treatments, including stem cell therapy, are being explored to improve cognitive function in children with Down syndrome. While still experimental, these advancements highlight the growing focus on Down syndrome research.

Beyond advanced medical care, what these children need most is acceptance. Many parents struggle to find schools, therapy centers, or even recreational spaces that accommodate their children.

“Teens with Down Syndrome often battle isolation. Acceptance begins at home but must extend to schools and workplaces. Mainstream schools should adopt modified curriculums so that children with Down syndrome can study alongside their peers. Vocational training in art and other disciplines can empower them further” Dr Tejas Hambir, Consultant – Paediatrics, Neonatology & Intensive Care Unit, Jupiter Hospital, Baner, Pune

A study in the Journal of Global Health, 2019 underscores this: only 18% of Indian adults with the condition are employed.