World Down Syndrome Day 2024: Down Syndrome is a genetic condition. A baby inherits 23 chromosomes from the mother and another 23 from the father. The cause of this is a random cell division error causing an extra chromosome 21. This error has three variations of "complete trisomy 21"," mosaic trisomy 21", and "translocation trisomy 21." To date, research hasn't found any single thing as the cause for this error to be environmental factors or parental mistake. It is the most common genetic condition, with an incidence of 1 in every 700 births, according to the Centre for Disease Control in 2021.
How Can Down Syndrome Be Detected?
There are prenatal 'Screening' and 'Diagnostic' tests to detect Down Syndrome in a foetus.
A' Nuchal Translucency Scan' measures the clear space in the tissue folds behind the developing baby's neck. Babies with Down Syndrome have fluid buildup there, making it appear larger. To calculate the chances of Down Syndrome in this baby, doctors calculate the mother's age, gestational age, and measurement of this space. A more sensitive test for finding trisomy 21 is the "Cell-Free Fetal DNA Analysis."
These screening tests don't give a definitive answer but indicate if one should go for "diagnostic tests". These tests involve getting the baby's genetic material while still inside the uterus, causing a risk of miscarriage and other complications. A few of these tests are 'Chorionic Villus Sampling', 'amniocentesis' and 'cordocentesis'. If Down Syndrome is suspected after the birth of a baby, a karyotype test with a blood sample can easily confirm the diagnosis.
Kids with Down syndrome have typical physical appearances, like flat bridged noses, upward slants to the eyes, and small ears. They also show delays in motor and speech milestones. Low muscle tone often causes this delay in sitting, crawling, and walking, although they can do it at a later age than their pee with the right interventions.
Low oral tone causes sucking and feeding difficulties limiting their sucking, chewing and biting abilities. They often show sensory sensitivity to various food smells and textures and eat mashed food beyond the typical age. It may also cause gastroesophageal reflux and constipation.
In speech development, there may be difficulties in clarity and language development. Speech Therapy as a part of an early intervention program helps a great deal in attaining speech and language development.
Sometimes, intellectual limitations are seen in these kids. They learn cognitive concepts differently and through remedial education. They may also have vision, heart, sleep apnea, hearing loss, and ear infections.
Intervention
Down Syndrome is detected at birth, if not earlier, and the parents are informed about various support and therapies that the child must undergo to make up for the developmental delay. Integration therapy, feeding therapy, and remedial education are all essential components of the Early Intervention Program and may vary according to the child's needs. With the necessary intervention and support, individuals with Down Syndrome can lead happy and fulfilling lives.
( Senior Occupational Therapist Dr Isha Soni, Centre Head at Lexicon Rainbow Therapy and Child Development Centre, Pune, has medically verified this article.)
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