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Case Reports
. 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

Tri Indah Winarni  1 , Andrea Schneider, Mariya Borodyanskara, Randi J Hagerman
Affiliations
Case Reports

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

Tri Indah Winarni et al. Case Rep Genet. 2012.

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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References

    1. Irwin SA, Galvez R, Greenough WT. Dendritic spine structural anomalies in fragile-X mental retardation syndrome. Cerebral Cortex. 2000;10(10):1038–1044. - PubMed
    1. Bassell GJ, Warren ST. Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function. Neuron. 2008;60(2):201–214. - PMC - PubMed
    1. Hagerman PJ. The fragile X prevalence paradox. Journal of Medical Genetics. 2008;45(8):498–499. - PMC - PubMed
    1. Loesch DZ, Huggins RM, Hagerman RJ. Phenotypic variation and FMRP levels in fragile X. Mental Retardation and Developmental Disabilities Research Reviews. 2004;10(1):31–41. - PubMed
    1. Hagerman RJ, Berry-Kravis E, Kaufmann WE, et al. Advances in the treatment of fragile x Syndrome. Pediatrics. 2009;123(1):378–390. - PMC - PubMed

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