Abstract

FRAGILE X SYNDROME

Dinkesh Khandelwal*, Gaurav Khandelwal, Rahul Jain, Vishal Chaudhary, Aditya Pant and Dr. Bhawani Singh Sonigara

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Abstract

Fragile X Syndrome (FXS) is a heritable ailment associated with the FMR1 gene mutation that results in a range of features including but not limited to cognitive impairment, disorganized behavior, and somatic deformities. This article intends to give a summary and the latest insight on FXS concerning its pathophysiology, the therapies associated with it, and how it affects the human body on the genetic and proteomic scales. The worldwide and Indian estimates are reviewed, along with the differences by age groups the mortality rates, and the primary epidemiological data on the spread of FXS. Also, the article aims to analyze modern approaches to the treatment of FX, including drug therapy, psychotherapy, and physiotherapy. This review seeks to consolidate knowledge on FXS and support the necessity for advanced research attention and better therapeutic strategies.

Keywords: Fragile X Syndrome, FMR1 gene, intellectual disability, FMRP protein, autism spectrum disorder, trinucleotide repeat, genetic mutation, behavioral symptoms, developmental delay, genetic counseling, molecular diagnosis, CGG expansion, neurodevelopmental di