Symptoms cannot be treated but early detection and therapy can improve a person’s quality of life.
In 2017, a man in Delhi with autism underwent his first DNA blood test at the age of 40. he tested positive for fragile X syndrome (FXS). It is caused by a change in a gene called FMR1 which makes an important protein (FMRP). This protein is essential for brain development.
Not widely known in India
In 1991, 14 years after the man was born, the mutation was discovered and named FRAXA by three American geneticists – Ben Ostra, David Nelson and Stephen Warren. They found that it was the leading inherited cause of autism worldwide.
Three decades ago, there was no a priori knowledge of this among health professionals. However, even after the discovery of FMR1, the lack of awareness and appropriate training to diagnose FXS in a timely manner prevails. In India, the lack of adequate screening and diagnostic facilities, the stigma associated with mental health, the absence of surveys in community settings, and minimal hospital data based on clinical experience have all kept FXS largely undetectable. .
According to a 2019 review paper from the Advanced Center for Evidence-Based Child Health, set up by PGIMER, Chandigarh under the aegis of the Indian Council of Medical Research, “There is a low recognition of the genetic disorder due to the delay in diagnosis. lack of uniform application of diagnostic tools at an early age and at a low cost.” It is estimated that 400,000 individuals in India have been identified with mutated fMRI and there are 4 million unknown carriers of the gene.
According to the Centers for Disease Control and Prevention (CDC), one in 7,000 men and one in 11,000 women are affected by FXS. FXS is the leading inherited cause of autism in 4% of the population worldwide. The CDC estimates that one in 259 women and one in 800 men have Fragile X. A mother who is a carrier has a 50% chance of passing the mutated gene to her children, who will either be carriers or have FXS. Males who are carriers do not pass the pre-mutation to their sons, but only daughters, who become carriers. According to Professor Sumantra Chatterjee, senior neurobiologist at the National Center for Biological Sciences in Bengaluru, this knowledge is important and the numbers are important and demand attention. His research focuses on healing the powerful emotional symptoms of FXS. It helps to empower parents with information about children in whom FMR1 turns off the production of FMRP.
Shalini Kedia, who founded the Fragile X Society of India in 2003 as a support system for families affected by FXS, says it is every woman’s right to make an informed choice to be a special mother. Studies suggest a high impact of conservative parenting on FXS prevalence.
timely detection
The simplest tool for timely detection is a DNA test. In the US, FXS testing is mandatory for every child with autism. This helps the parents to plan their family better. In India, doctors often fail to properly guide women who have fertility issues, have late pregnancies, opt for IVF with donor eggs, or donate embryos for surrogacy.
Experts suggest changes in MBBS curriculum to include a detailed chapter on FXS for practicing health professionals and more government-conducted continuing medical education programs to treat FXS as a major public health concern. Public awareness and an additional test to the pregnancy list and prenatal and neonatal testing for other chromosomal abnormalities (such as Down syndrome) would be beneficial. But most people are either not aware of FXS testing or cannot afford it. The tests are done in major government hospitals and some private laboratories and cost between ₹4,500 and ₹7,500.
People should understand that autism triggered by FXS is a behavioral condition. Symptoms are learning difficulties, speech delay, aggressive behavior, hyperactivity, attention deficit, fear of the unfamiliar, sensory processing disorder and problems with motor skills. These cannot be cured, but early therapy can improve a person’s quality of life.
The National Policy for the Treatment of Rare Diseases, 2017, was limited by challenges in implementation. This year, the government introduced the National Policy for Rare Diseases Act. It calls for systematic epidemiological studies on the incidence and prevalence of rare diseases. Without directly naming FXS, it recommends prenatal tests for lesser-known single-gene and other genetic disorders. This is very deep because even during pandemics the conversation on rare diseases has to be kept open. Otherwise, it will leave everyone trying to cope feeling even more insecure and isolated.
soma.basu@thehindu.co.in
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