The Fragile X Society, India in association with UC Davis Mind Institute, USA has now teamed up NIMHANS, Indira Gandhi Institute of Child Health and Centre for Human Genetics to delve into the latest evidence-based treatments for Fragile X-associated disorders. Further, it also engaged the patient community to expand the reach of the Fragile X Society India.
The Fragile X Syndrome is a rarest of rare condition, which is caused by a change in a gene that is inherited at the time of conception. When the FMR1 gene, found in the X chromosome undergoes a change and does not function it affects brain, causing wide range of cognitive impairment, from mild learning disabilities to severe intellectual disabilities (ID) that can impact individuals and families in various ways. Fragile X Syndrome is the most common known cause of autism or ‘autistic-like’ behaviors.
The condition affects around 1 in 4,000 males and 1 in 6,000 females. It is vital to spread awareness among the medical fraternity especially pediatricians and gynecologists’, besides parents and the couples planning a family to enable early detection. Due to advancement in medical sciences, there are many treatments like medication and therapies available at different centres, which significantly improve the quality of life of a child or an individual affected with Fragile X Syndrome (FXS).
According to Shalini Kedia, founder member and chairperson, The Fragile X Society, India the awareness levels in India with respect to other countries are considerably low. In the past, for instance in USA, toddlers at the age of 36-42 months were detected with FXS, whereas children in India were diagnosed at ages of 10 years, 12 years, 16 years or even 40 years. This led to a huge gap in their treatment cycle. With The Fragile X Society, India’s initiative of dispelling ignorance amongst the large population of India has bore fruit. The youngest Fragile X affected child we have seen was just one year old. This has happened only because of awareness amongst professionals.
“As per the world wide statistics, India has over 4, 00,000 affected individuals. There are global organizations focused on creating awareness for Fragile X”,she added.
The Indian Academy of Pediatrics (IAP) has come forward to support The Fragile X Society, India. Cases of Fragile X Syndrome are mostly not reported in India. “But we are preparing guidelines for management of the syndrome, as it is necessary to create awareness among the doctors who will manage the children or individuals affected with FXS and its associated disorders. It is therefore vital to utilize the knowledge gathered from the guidelines so that it can be used for early and better diagnosis of the syndrome and plan its treatment accordingly”, said Dr. Anupam Sachdeva, MD, Director Institute of Child Health, SGRH, President, IAP.
“ We have been training doctors, psychologists in fragile X, autism and other neuro-developmental disorders through our International Training Program in Neuro developmental Disorders (ITPND),” said Dr. Randi Hagerman,MD, Medical Director, UC Davis MIND Institute, USA.