Abstract
Fragile X syndrome (FXS), the most common form of inherited mental retardation, results from a mutation that silences transcription of the F ragile X Mental R etardation gene ( FMRI), and translation of the FMRI protein ( FMRP). Individuals with FXS have a highly variable level of cognitive disability, typical physical features such as large ears and a long face and behavioural dysfunction including hyperactivity, anxiety, perseveration, tactile defensiveness and autistic-like behaviour. Common medical problems include gastro-oesophageal reflux, otitis media and sinusitis, orthopaedic problems, hypotonia, mitral valve prolapse, seizures and sleep disorders. Diagnosis of FXS by DNA analysis is important to provide targeted treatment for the patient and appropriate genetic counselling for the family. Supportive strategies to maximize functioning include aggressive management of medical problems, educational programming tailored specifically for the FXS profile and medications targeting problematic behaviours. Insights into the functions of FMRP may lead to new therapies to improve cognitive functioning.
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