Get-hooked July 4, 2019
#RareDiseases – Demystifying Fragile X Syndrome
In our July campaign we look at rare diseases and the Indian scenario. According to government’s figures, there are 7,000 — 8,000 rare diseases in India, but less than 300 of them have therapies available to treat them. About 95 per cent of rare diseases have no approved treatment and less than one in 10 patients receive disease specific treatment. Today we look at Fragile X Syndrome, a rare genetic condition that causes many developmental problems.
As recently as early this year, guidelines for Fragile X Syndrome were launched by the Indian Academy of Paediatrics (IAP). High time, says Shalini Kedia, Chairperson of Fragile X Society — India.
Unlike autism which is gaining awareness worldwide, Fragile X Syndrome (FXS) needs to be better understood. FXS is not apparent and more than often missed. Research shows that 2-4% of all children with a diagnosis of autism have FXS as the underlying cause of their condition. It is a genetically-defined inherited condition that can be diagnosed by a DNA blood test. – Shalini Kedia, Chairperson, Fragile X Society-India.
So, what is FXS? Some of the conditions associated with it are are learning disabilities, intellectual disability, and communication issues. It is the most common cause of inherited intellectual disability, the second most common genetic cause after Down syndrome and the most common known single gene cause of autism spectrum disorder.
FXS affects over four lakh children in India and if one takes into account its associated disorders, the number rises to 40 lakh, which is a huge number. Awareness levels in the country are comparatively low. This has improved over the years. Unlike before when children in India were diagnosed as late as 10 years, and even 40 years, today things are different. “The youngest Fragile X affected child we have seen was just one year old. This has happened only because of awareness amongst professionals, says Kedia.
Signs and Treatment
Some common signs are growth delay, language and speech-related problems, fidgeting, eye contact issues, mood swings, focus issues, to name just a few. There are some physical characteristics that can be observed in people with FXS like large head, pointed narrow face, large forehead and chin, bigger ears, flat feet etc.
The cause is an abnormality in the FMR1 gene located on the X chromosome at a point where the chromosome appears to be “fragile. It is passed through the genes of parents to children. Women who are the carriers of Fragile X have a 50% chance of passing the abnormality to their children. In case of men who are carriers, the mutated gene is only passed on to daughters but not to sons.
Early intervention can make life less challenging for the children so they get timely help. The IAP recommends that “all children with intellectual disability and/ or developmental delay and/or autistic spectrum disorder with no known diagnosis should undergo fragile X DNA test.
While there is no cure, detection can help ensure children have access to therapy on time. Speech, physical, behavioural and occupational therapies combined with special education programs can help children learn strategies to cope with FXS.
Chennai parent Vimal Balachandran has a son with FXS. She says her son is a happy child with a great sense of humour who loves making people laugh with his rare ability to mimic others. He is a great singer as well.
Vimal, who is a member of the parent support group Support Child Assistance Network firmly believes that teaching such children life skills early helps in their all-round development.
“Children with FXS need to be taught various life skills such as eating, using toilets etc. to help them learn and become independent, says Vimal.. “One good thing about children with FXS is that they are mostly verbal and can communicate. Understanding the condition of FXS-affected children helps us understand their limitations.
Vimal says that parents should not push such children to do things they are not able to, Rather, they should encourage the child’s own interests and talents. “Encourage the children and keep them motivated in a positive manner as it helps build their self-esteem and enables them to do better.
Above all, she says treat them with respect. ““They are able to understand the behaviour of others towards them, and can get affected by negative remarks, demeaning comments, cautions Vimal.
GET IN TOUCH: Know more about Fragile X Society — India here – http://www.fragilex.in/Call on +91 9820199092 | +91 8433853448 | +91 2266642151
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