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24 Feb 2024, Edition - 3147, Saturday

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“A cure is only for a disease. Down syndrome is a condition”

Indrani Thakurata


Bengaluru: There is a lot of scare attached to the word Down Syndrome in India and most scares emanate from the lack of knowledge. And there is no better time to address it than now when Down Syndrome Federation of India is hosting its 1st India International Down Syndrome Conference tomorrow. Many international experts in the area of Down syndrome will be sharing their views with us. We speak to Dr Brian Skotko (A board certified medical Geneticist and Co Director of Down Syndrome Programme at Massachusetts General Hospital) & Dr George Capone (Associate Professor of Paediatrics at John Hopkins University School of Medicine) for an exclusive on the subject and around it.

What is Down syndrome and how is it different from other genetic diseases?
Down syndrome is the most common genetic condition in the world with an incidence rate of almost 1 in every 850 live births. It is named after Dr. Langdon Down who discovered this medical condition. Every human being has 23 pairs of chromosomes – 4 in all. However in persons with Down syndrome, the 21st pair instead of having 2 chromosomes has 3 which results in a lot of physical and intellectual challenges. That is why this condition is also known as Trisomy 21. Many genetic abnormalities are prevalent but Down syndrome is the most common one. And strangely enough, in spite of being the most common, it is also one of the least know conditions in the world.

How are babies with Down syndrome born?
No one really knows the answer to this question. It is an aberration in the chromosome which cannot be predicted. There are lots of myths about how children born to older mothers can have a higher chance of being born with Down syndrome, or how if one is stressed out too much the child can be someone with Trisomy 21, yet no one can be sure how and why it occurs.

Is there are test to find out about down syndrome? How is it detected?
Doctors today advise screening in the 2nd month of pregnancy itself. This screening while not a fool proof method can help detect genetic abnormalities in people. There are other tests available the most common one being amniocentesis where the amniotic fluid is taken from the mother. This test can predict with an 80-90% accuracy, however there is a high chance of miscarriage in this test.
A new test which is non-invasive and which can detect genetic aberrations with just a blood test called NIPT is there. The accuracy in this test is much higher. But most people do not prefer it due to its cost which is quite high for people who cannot afford much.

Do babies need special doctors to care for them?
These children are special children. However regular doctors with an idea about Down syndrome can definitely take care of them. Persons with Down syndrome have a lot of physical issues – whether it is eyes, heart or thyroid. So having a regular doctor is always more advantageous since this doctor would have seen the patient through various phases.

Are their special programmes for children with down syndrome?
Persons with Down syndrome are slower than their counterparts. But that does not mean they cannot move into an inclusive society. All it requires is a little amount of patience and continuous push. We also believe that an early intervention program can help in these children feeling more like an inclusive part of society. There are special schools and centers that exclusively deals with persons with Down syndrome.

I’ve heard that people with Down syndrome don’t live long — what is the life expectancy?
These days life expectancy of persons with Down syndrome has gone up quite a bit. Initially due to non availability of information and facilities, persons with Down syndrome did not live long. However now with so much of medical advancement life expectancy has definitely gone up, which i say is a good sign.

Is there a cure for Down syndrome?
A cure is only for a disease. Down syndrome is a condition. A person born with Down syndrome cannot become any different since it is inbuilt in them and would remain with them all their lives.

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