A new “Fragile X Syndrome” is silently spreading its tentacles in India. It leads a patient to “intellectual disability”. The disorder, which affects males more than females, is rarely reported in the country and it is usually detected late.
Major symptoms of the syndrome are attention problems, hand flapping, delayed development and long, narrow face. The patient has a poor eye contact and his speech is delayed. Other symptoms include prominent ears and forehead and large testicles. In some cases, physical features may not develop until puberty. Fragile X can be determined with a blood test which is available in India. The blood test is usually supported with clinical symptoms to arrive at an accurate diagnosis.
The syndrome, which is like Down’s Syndrome, is caused due to a genetic disorder. According to estimates of “The Fragile X Society”, there are about 4 lakh patients in India. It is also the most common cause of autism. Experts feel the need for increased awareness about the syndrome among the medical fraternity, especially pediatricians and gynecologists, as well as parents and couples planning to have a child, so that children with Fragile X Syndrome are detected early in life.
“Detection is a major problem in India. In developed countries like the United States, children from 36-42 months are detected with Fragile X Syndrome, whereas, in India, children of this syndrome are detected at a later age of 6-8 years or even later. This leads to a huge gap in their treatment cycle. Therefore, early intervention is very crucial,” Shalini Kedia, chairperson of the Society, told this newspaper.
Clinical symptoms of the syndrome include behavioural and intellectual problems. Unique facial features also indicate this syndrome. It then causes impairment, from mild learning disabilities to severe intellectual disabilities which can impact the patients and their families in different ways.
The “Fragile X Society” is trying to engage the patients’ community through seminars, workshops and conferences in an attempt to spread awareness about the disorder, she said and added that it has now collaborated with the Indian Academy of Paediatrics (IAP) to support and create awareness in this regard. The Society is networking with doctors and parents in order to create awareness about the Syndrome. It has also joined hands with USA’s UC Davis Mind Institute to initiate research on the spread in India.
The syndrome is a rarest of rare condition, which is caused by mutation in the gene called FMR 1, which is inherited at the time of conception. When the gene, found in the X chromosome, undergoes a change and does not function properly, it affects the brain.
Dr Anupam Sachdeva, president of the Indian Academy of Pediatricians and director of Institute of Child Health at Delhi’s Sir Ganga Ram Hospital (SRGH), said: “The syndrome is underreported, but it is the most common cause of intellectual disability. What is disturbing is the fact that the patients and their parents face social exclusion. There is a stigma attached, preventing early intervention, diagnosis and treatment. There are families which are not financially sound and therefore find it difficult to go ahead with treatment.” He said the Academy will soon draw up uniform guidelines for doctors on how to manage the syndrome.
Globally, most developed countries have knowledge about Fragile X disorders. The International Fragile X Alliance is working to spread awareness about it. The UC Davis MIND Institute’s trains doctors and psychologist in fragile X, autism and other disorders.