Coming to grips with Down Syndrome

Chennai

Down Syndrome is the most common genetic chromosomal abnormality in children, and 1 out of every 800 are afflicted with it. The reasons for the affliction are well documented. “Each cell in the human embryo should contain 46 chromosomes or 23 pairs of chromosomes, that is, 23 each from the mother and father. But some children carry multiple copies of the same chromosome numbers, which cause defects,” says Dr Kavya Krishnakumar, Consultant Obstertrician and Gynaecologist at Motherhood. Down Syndrome is caused due to the presence of multiple copies of chromosome no 21. “An individual with Down Syndrome will have a total of 47 chromosomes instead of 46 in each cell,” she adds.

The risk of chromosomal abnormality increases in expectant mothers above 35 years of age or those who may have had a child with Down Syndrome in the past, she points out. “Nowadays, all women, regardless of age, are advised screening tests for Down Syndrome,” she adds.

An array of implications

Down Syndrome are born with multi-systemic disorders, affecting various organs. “There is no cure, but they can receive supportive treatment from specialists, including ophthalmologists. Occupational therapy can also help them adapt,” says Dr Madhu P, Senior Consultant, Paediatrics, SIMS. Psychological counselling apart, these children have to be screened for vision problems as early as possible. “The other conditions are keratoconus and weakening of the retina,” says Dr Arulmozhi Varman, Medical Director, Uma Eye Clinic. “Most of them could suffer from refractive power. It is best to get their eye sight checked when they are one or two years old,” he adds.

Need effective teaching methods, parental support

Jayashree Ashok, director of CHILD, says children with Down Syndrome experience learning difficulties. “They need more effective teaching approaches and therapy. They are usually slow learners. However, they learn better when information is presented visually,” she adds. “Many of them can develop reading abilities, which is essential for vocabulary and language development in all children. It is  of particular benefit to children with Down syndrome,” she says.

The gap between a child’s understanding and the ability to express himself can be frustrating, but there are tools to help parents. Feuerstein’s Instrumental Enrichment programme is one such, and is based on the premise that everyone, regardless of age or disability , can enhance their learning  skills.

Dr. Rekha Ramachandran, co-founder and current chairperson of the Down Syndrome Federation of India says  parents need help in dealing with their child’s condtition. “They are unlikely to know how to cope  and likely worry over their future. At Mathru Mandir, we offer support and guidelines to parents.  We help them understand their children better and provides the right support network at home, which benefits the children,” she says. The irony is that children with Down Syndrome are actually ‘happy babies’, says Dr Madhu, “while, for parents, there is an enormous emotional burden. So prevention is the key. Having children on time and taking pre-natal tests.”

Check all those boxes during pregnancy

Screening tests are not 100 per cent confirmatory. They indicate whether the baby has a higher probability of having Down Syndrome. All these tests have only 75 to 85 per cent predictability. If the tests are positive or near positive then additional diagnostic tests are offered which are 100 per cent confirmatory. The two main diagnostic tests that are offered to ascertain 100 per cent confirmation of Down Syndrome are amniocentesis and Chorionic Villous Sampling. These tests are not done in the first instance because they are invasive and there is a risk of miscarriage.

CLEAR SIGN

• Some commonly found physical characteristics in children with Down Syndrome:
• Hypotonia, which is reduced  muscle tone, resulting in floppiness
• Small nose and flat nasal bridge
• Small mouth with a protruding tongue
• Eyes that slant upwards  and outwards
• Flat back of the head
• Sandal gap, which is a large space between the first and second toe
• Broad hands with short fingers
• Single transverse palmar crease, or palm that may have only one crease across it
• Below-average weight and length at birth