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Case Rep Genet. 2012;2012:280813. doi: 10.1155/2012/280813. Epub 2012 Mar 26.

Early intervention combined with targeted treatment promotes cognitive and behavioral improvements in young children with fragile x syndrome.

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1
Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California at Davis Medical Center, Sacramento, CA 95817, USA ; Department of Pediatrics, University of California at Davis Medical Center, Sacramento, CA 95817, USA ; Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Jl. Dr. Soetomo No. 14, Central Java, Semarang 50231, Indonesia.

Abstract

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability due to an expansion in the full mutation range (>200 CGG repeats) of the promoter region of the FMR1 gene leading to gene silencing. Lack of FMRP, a critical protein for dendritic spine formation and maturation, will cause FXS. Early environmental enrichment combined with pharmacological intervention has been proven to rescue dendritic spine abnormalities in the animal model of FXS. Here we report on 2 young children with FXS who were treated early with a combination of targeted treatment and intensive educational interventions leading to improvement in their cognition and behavior and a normal IQ.

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