World Down Syndrome Day- 21 st March

All that you need to know about Down Syndrome

Hira Bojamma, Consultant, Genetic Counsellor,

Brains Super Speciality Hospital.

 

Down Syndrome is a condition where an individual carries an extra copy of chromosome 21 in the cells of their body. This is one of the most common chromosomal disorders and common cause of intellectual disability. All children with Down syndrome have varying degrees of intellectual disability. They may have some other abnormalities like heart disease in addition and typical facial features.

This condition has no specific treatment, however, it can be symptomatically managed. Malformations of the heart and other organs can be corrected by surgery. Intellectual disability requires special training and support. The quality of life of people with Down syndrome can be improved by meeting their health care needs, including regular check-ups with health professionals to monitor mental and physical condition and to provide timely intervention be it physiotherapy, occupational therapy, speech therapy, counselling or special education. Individuals with Down syndrome can achieve optimal quality of life through parental care and support, medical guidance, and community-based support systems such as inclusive education at all levels.

The overall incidence of Down syndrome is 1 in 800. The risk increases with the age of the mother and is around 1 in 350 if the mother is aged 35 years. There are screening tests and scans that enable early detection of the fetus with Down syndrome during pregnancy. If screening test is positive for Down syndrome confirmatory tests like chorionic villus sampling and amniocentesis followed by fetal aneuploidy testing can confirm whether the fetus will have Down syndrome. Women aged 35 years and above, women with a positive screen test result and those with previous child with Down syndrome are considered to have higher risk of Down syndrome in their pregnancy.

Every year, World Down Syndrome Day is observed to spread the awareness about this genetic condition, voice the rights of those affected and contribute to their inclusion in the mainstream society.

Myth: People with Down syndrome cannot live independently and hold jobs.

Truth: People with Down syndrome have a wide range of capabilities while a few many need extra care, others live with limited assistance and some can live entirely independently.

STOP THE STIGMA! Be kind, Be accepting and Be inclusive!