Prevalence of fragile X syndrome in South Asia, and importance of diagnosis.

Abstract

Fragile X syndrome (FXS) is a genetic disorder caused by a mutation in the FMR1 gene on the X chromosome, leading to a range of developmental and intellectual disabilities. FXS is characterized by intellectual disability, behavior challenges, and distinct physical features such as an elongated face, large ears, and hyperflexible joints; FXS remains the most common inherited cause of intellectual disability. Behavioral manifestations often include attention deficits, hyperactivity, anxiety, and features of autism spectrum disorder. The prevalence of FXS in the South Asian population is not well-documented, but existing studies suggest it may be comparable to global prevalence rates, which are approximately 1 in 4,000 males and 1 in 8,000 females. Accurate diagnosis of FXS in South Asians is crucial due to the implications for early intervention and treatment, which can significantly improve the quality of life and developmental outcomes for affected individuals. Early diagnosis also facilitates genetic counselling and family planning, helping to reduce the risk of recurrence in families. Increased awareness and screening in South Asian communities are essential to address the diagnostic gap and ensure timely support for individuals with FXS or disorders associated with the premutation of FMR1.