Great things are not done by impulse, but by a series of small things brought together – Vincent Van Gogh


Down syndrome is a common

developmental disability

Recently a friend of mine gave birth to a chubby little baby girl, the new parents were exhilarated; unfortunately, their happiness was short lived when the doctor somberly informed them that their little angle had Down syndrome. The first time parents were understandably devastated and this set me off on a search to know all about Down syndrome (DS).

Did you know Down syndrome is the most common disability and affects one in every 800 live births? India has approximately 12.5 lakh people with DS in the country, a fairly sizable figure, with a definite need for attention. Approximately 7,000 new children with DS are born each year in the country, adding to the 12.5 lakh figure. The incidences of DS have a direct correlation to the age of mother and the chances increase significantly among women 35 years of age and older.

DS gets its name from John Langdon Down, the British doctor who described the syndrome in 1866. For a person with DS the 21st chromosome may be present in full, part or an extra. DS is a developmental abnormality and is associated with impaired cognition -eg perception, attention, learning, memory, thought, concept formation, reading and problem solving abilities are diminished.

People with DS can be easily identified by their physical features these include their almond shaped eyes caused by an epicanthic fold of the eyelid, a double crease across one or both palms, shorter limbs, poor muscle tone, a larger than normal space between the big and second toes and protruding tongue. People with DS also tend to have a higher risk towards congenital heart defects, gastroesophageal reflux disease, recurrent ear infections, obstructive sleep apnea, and thyroid dysfunctions, which means they requires careful monitoring and care.

Today medical technology has advanced adequately, such that tests like amniocentesis, chorionic villus sampling (CVS) and percutaneous umbilical cord blood sampling (PUBS) can be used to identify DS during pregnancy itself. Interestingly, in countries like America and Europe, where screening for disabilities is high, over 90% of women who when told they have a DS baby choose to terminate the pregnancy. This has lead to wide protest from DS groups who believe that people with DS have as much a right to life as any other child. The choice to terminate a pregnancy not withstanding, screening of pregnant women should be made compulsory especially for couples who may have an increased chance of having a child with DS eg the pregnant mother is older than 30 or 35 years of age.

Intervention and rehabilitation for children with DS begins early in childhood with screening for some of the medical conditions mentioned earlier, followed by treatment where necessary. However the life expectancy for people with DS has significantly increased and they can successfully survive into their fifties. They therefore require a conducive family environment that is positive and stimulating so that they can develop to their full potential. People with DS need to be given special education and vocational training so that they can lead a reasonably independent live and even assist their families with a small income. Thus while the physical genetic limitations of Down syndrome cannot be overcome, education and proper care will markedly improve the quality of life for the person with DS.

As the mortality rate of people with DS decreases, the prevalence of individuals with DS in our society will steadily increase. Some experts project that with the increasing age of marriage and life expectancy, the number of people with DS in the next 10 years will double. It is therefore imperative that there be widespread public education and acceptance. The government through the National Disability Commission and the State Disability Commissions need to evolve a policy that ensures people with DS get an education, plan for them in the Sarva Shiksha Abhayan, set up day care centres especially for working parents and training centres where those with DS can receive a vocational skill. It will have to put in place job reservations in the private and public sector and assist parents monetarily through facilities like Mediclaim when the medical bill keep mounting.

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