Down Syndrome is one of the most common chromosomal anomalies globally. It affects 1 in 1000 infants in India. A baby with Down's Syndrome has an extra copy of a particular chromosome - chromosome 21. This makes a total of 47 chromosome per cell. Baby's with Down Syndrome have characteristic physical appearance and typically go on to have some level of learning disabilities.?
It can be diagnosed before birth with certain tests like Nuchal Translucency (NT) scan. The exact cause of Down Syndrome is not known, but research suggests that it may be related to maternal age, as older women are more likely to have a child with the condition.
There is no cure for Down Syndrome. However, early intervention is critical in managing the condition and ensuring that affected children have a good quality of life. This involves seeking medical care and support as soon as possible after the child is diagnosed. Management of Down syndrome has improved survival substantially in the past two to three decades. Management requires an organized approach and monitoring for associated abnormalities and prevention of common disorders.
The exact cause of Down Syndrome is still not fully understood, but it is known that advanced maternal age is a risk factor for having a child with the disorder. It is estimated that the risk of having a child with Down Syndrome increases from 1 in 1,500 at age 20 to 1 in 100 at age 40. In India, maternal age at childbirth is rising, and it is now more common for women to have children after the age of 35. This trend is leading to an increased prevalence of Down Syndrome in the country.
Early detection of Down Syndrome is crucial for proper management of the disorder. Prenatal testing is available in India, and women who are at high risk of having a child with Down Syndrome are recommended to undergo prenatal screening. Prenatal testing includes blood tests and ultrasounds, which can detect signs of the disorder before the baby is born.
After a child is born with Down Syndrome, early intervention is critical to ensure that they receive the best possible care and support. Children with Down Syndrome typically have developmental delays that require ongoing management. Physical, occupational, and speech therapy can help children develop skills such as walking, communicating, and interacting with others. Educational interventions, such as specialized instruction and support in school, can also help children with Down Syndrome achieve their full potential.
In addition to addressing developmental delays, managing the physical health needs of children with Down Syndrome is also critical. Children with Down Syndrome are at a higher risk of certain health conditions, including congenital heart defects, hearing loss, and vision problems. Regular check-ups with a pediatrician or other healthcare provider, as well as monitoring for common health conditions associated with the disorder, are essential. Providing a supportive and nurturing environment for children with Down Syndrome is also vital. Support groups and other resources can help connect families and individuals affected by the disorder, and emotional support and encouragement can help children with Down Syndrome thrive. In India, several organizations and support groups are working to provide resources and support to families affected by Down Syndrome.
Despite the challenges presented by Down Syndrome, advances in medical management have significantly improved the quality of life and life expectancy of affected individuals. In India, the survival rate of children with Down Syndrome has increased from 50% in the 1980s to over 80% in recent years, largely due to improvements in medical care and early intervention programs.
However, access to appropriate medical care and support remains a challenge for many families in India, particularly in rural and underserved areas. To address these challenges, increased awareness and education about Down Syndrome are needed in India, both among healthcare professionals and the general public. Additionally, more resources and support are needed to ensure that all children with Down Syndrome in India have access to appropriate medical care, education, and community support.
About the author: Dr Mukesh Kumar Khetan is a Consultant inPaediatrics at CARE Hospitals, Hyderabad. All views/opinions expressed in the article are of the author.?