New Delhi: With an aim to raise awareness, education and support for research, the World Fragile X Day is celebrated on July 22. It’s a global awareness day for those impacted by Fragile X Syndrome FXS.
What is Fragile X
The Fragile X Syndrome is a genetic disorder. It can lead to developmental delays, language delays and learning impairment in children. It is the only known single-gene cause of Autism.
It is characterized by moderate intellectual disability in affected males and mild intellectual disability in affected females. Distinctive physical features are sometimes present in affected males including a large head, long face, prominent forehead and chin, protruding ears, loose joints and large testes, but these features develop over time and may not be obvious until puberty.
Fragile X syndrome is a mutation of the FMR1 gene and is the most common form of inherited intellectual disability. It impacts men more than women, and while a person may have the gene mutation, sometimes they do not have any apparent signs.
History & Significance
In 2000, the US Senate passed a resolution naming July 22 as the National Fragile X Awareness Day. In 2021, the White House passed a resolution also in support of the day. The resolutions urged National Institutes of Health, the CDC and researchers around the world to join the efforts to find a cure for Fragile X.
Although there is no cure for Fragile X Syndrome, medications can improve the behavior problems.
FRAXA Research Foundation-USA
Founded in 1994 by parents of children with Fragile X syndrome, the FRAXA Research Foundation is dedicated to educating public officials and the general population about Fragile X and to supporting ongoing medical research. The foundation works toward these goals by awarding research grants to university-based scientists and physicians whose purpose is to find treatments for Fragile X syndrome and by encouraging the publication of articles to increase awareness of Fragile X syndrome.
According to the FRAXA Research Foundation, Fragile X Syndrome is the most common inherited cause of autism and intellectual disabilities. It affects 1 in 4,000 boys and 1 in 8,000 girls worldwide.
Fragile X Society – India
Founded in 2003, the Fragile X Society of India based in Mumbai successfully created a network all over the country with parents and eminent doctors. The society promotes public and professional awareness.
It is estimated that in India there are approximately 4 lakh children with FXS, most of whom are undiagnosed and untreated.
