Abstract The fragile X syndrome (FXS) is an inherited neurodevelopmental disorder that primarily affects males, often resulting in an IQ below 55, while about two‐thirds of females also experience intellectual disability. Physical features may include an elongated face, prominent ears, finger joint laxity, and enlarged testes in males. Behaviorally, affected individuals often show autism‐like traits, such as speech delays, hyperactivity, social difficulties, and increased risk of seizures. The condition arises from an excessive expansion of CGG trinucleotide repeats in the FMR1 gene on the X chromosome, which silences gene activity and leads to a shortage of fragile X mental retardation protein, a key factor in normal brain development. Healthy individuals carry 5–40 repeats, while those with FXS have over 200. Pre‐mutation carriers (40–200 repeats), particularly females, can transmit the condition to their children, with males more severely affected. Genetic testing is critical for early diagnosis, counseling, and risk assessment. Current research explores biomarkers and neuroimaging to detect neurotransmitter and metabolic imbalances. Although there is no cure, these approaches, combined with targeted interventions and dietary strategies, may help alleviate symptoms, improve cognition, and enhance quality of life for individuals with FXS.
Halawani et al. (Thu,) studied this question.
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