Abstract
Fragile X syndrome (FXS) is the most common form of X-linked disorder caused by mutations in the ‘Fragile X Messenger Ribonucleoprotein 1’ gene leading to intellectual, behavioral, social, and learning challenges. Many early investigations evaluating the characteristics of FXS were not conducted by speech-language pathologists, and the characteristics in those earlier studies were not properly justified. Hence the present study aimed to investigate and discuss the speech, language, cognitive, and social behavioral characteristics of a child diagnosed with fragile X syndrome. A 13-year-old male suffering from FXS with significant prenatal, postnatal, family, and developmental history reported to department of Speech-Language Pathology. Detailed evaluations revealed typical orofacial characteristics, oro-motor weakness, poor intellectual functioning, social behavioral problems, and conductive hearing loss.
Published Version
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