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In 2017, a man affected by autism underwent his first DNA blood test at the age of 40. He tested positive for Fragile X Syndrome (FXS). This shows the lack of awareness and appropriate training in diagnosing FXS.
About Fragile X Syndrome
Fragile X syndrome(FXS) is a genetic disorder. It is also known as Martin-Bell syndrome or Marker X syndrome.
The syndrome is the leading inherited cause of autism in 4% of the population worldwide. Boys often have a more serious form of it than girls.
Caused by: The syndrome is caused by changes in a gene called FMR1, which makes an important protein (FMRP). This protein is required for brain development. Children with Fragile X syndrome make too little or none of it.
Symptoms: The symptoms are learning difficulty, speech delay, aggressive behaviour, hyperactivity, attention deficit, problems in motor skills, etc.
Passed on from A mother who is a carrier of FXS has a 50% chance of passing the mutated gene to her children, who will either be carriers or have FXS. Men who are carriers do not pass the pre-mutation to their sons, but only daughters, who become carriers.
Estimated cases of Fragile X Syndrome in India: It is estimated there are 4 lakh individuals who have been identified with mutated FMRI in India and 40 lakh undiagnosed carriers of the gene.
Diagnosis: The simplest tool for timely detection of Fragile X Syndrome is a DNA test.
Treatment: The disorder cannot be cured, but early therapy can improve the individual’s quality of life.
Source: This post is based on the article “Detecting Fragile X Syndrome” published in The Hindu on 8th September 2021.