Management of Down Syndrome in 2019

The Down Syndrome Federation of India puts the incidence of Down Syndrome at 1 in 1,000 births. Down Syndromeis a chromosomal condition that is typically associated with developmental delays, mild to moderate intellectual disability and characteristic facial features.Individuals with Down Syndrome have an increased risk of developing several medical conditions. Down Syndrome is technically known as trisomy 21 as it is caused by the presence of an extracopy of chromosome 21,which means every cell in the body of an individual with Down Syndrome has three copies of chromosome 21 rather than two copies as present in healthy individuals. Many times, parents of these childrenaren’t even sure if their child has Down Syndrome until the child is born.

Reema and Pankaj represent a typical young couple expecting their first baby,spending every day preparing for theirnew-born’s arrival. They look forward to their Ob-Gyn (Obstetrician & Gynaecologist) appointmentto monitor the progress of their baby.Over the course of a few weeks into the first trimester, their Ob-Gyn advises them to opt forStrand Life Sciences’ Maternal Serum Screening (MSS) test which is a blood test for pregnant women who want to know about theirrisk of having a baby with any chromosomal abnormalities. This test also provides additional information about the risk of developing Early-onset Pre-eclampsia (a disorder of pregnancy characterized by the onset of high blood pressure and often a significant amount of protein in the urine) during a pregnancy.

MSS is an evidence and guideline–based screening program. MSS is offered to all pregnant women regardless of their age, as every pregnancy has a risk of chromosomal disorders. Strand follows the Fetal Medicine Foundation (FMF-UK) guidelines and automatic platforms like AutoDELFIA©, an immunoassay system, which helps in getting accurate and high-quality results.

With the onset of technology, screening of abnormalities like Down Syndrome is also available in the first trimester (week 1 to end of week 12 of pregnancy). Screening in the first trimester is pivotal in establishing risk categories enabling couples likeReema and Pankajto make an informed decision about the pregnancy as early as possible under the care of their Ob-Gyn.

Children with Down Syndrome often meet age-related milestones. However, they may learn more slowly than others. Early intervention programmes with a team of therapists and special educators can treat and helpbased on each child's specific condition and need, thereby helping them and their families manage their day to day lives. In these programs, special education teachers and therapists help a child learn: sensory, social, self-help, motor, language and cognitive skills/abilities.

The World Down Syndrome day, which is celebrated on the 21st of March every year, gives us all an opportunity to create forums for discussion on how best to manage this condition and ways to create a support system for children with Down syndrome.