Receiving an autism diagnosis can be an overwhelming experience for individuals and their families. It often comes with many questions, including the underlying causes of the condition. While autism spectrum disorder (ASD) is known to have a strong genetic component, a crucial but often overlooked step after diagnosis is genetic screening. One of the key reasons for this is to determine whether Fragile X Syndrome (FXS)—one of the most common known genetic causes of autism—is present. What is Fragile X Syndrome? Fragile X Syndrome is a genetic condition caused by a mutation in the FMR1 gene, which is responsible for producing a protein essential for normal brain development. This mutation leads to intellectual disability, speech and language delays, social anxiety, hyperactivity, and other behavioral and cognitive challenges. Importantly, Fragile X is also a leading inherited cause of autism, with research indicating that approximately 2-6% of individuals with autism have FXS. Why Gene...
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