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Current Paediatrics 2002年第4期12卷 316-324页

作者： Berry-Kravis, Elizabeth Grossman, Aaron W. Crnic, Linda S. Greenough, William T. Departments of Pediatrics Biochemistry and Neurology Rush-Presbyterian-St Luke's Medical Center Chicago IL United States Neuroscience Graduate Program University of Illinois Beckman Institute Urbana IL United States Departments of Pediatrics and Psychiatry University of Colorado School of Medicine Denver CO United States Departments of Psychology Psychiatry and Cell and Structural Biology Beckman Institute University of Illinois Urbana IL United States

Fragile X syndrome (FXS), the most common form of inherited mental retardation, results from a mutation that silences transcription of the Fragile X Mental Retardation 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. © 2002 Elsevier Science Ltd.

关键词： Autism Behaviour Cognition Diagnosis Features FMRI FMRP Hyperactivity Mental retardation Phenotype Therapy, treatment

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