New Targeted Treatments in Fragile X Syndrome.

Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability with prevalence rates estimated at 1:5,000 males and 1:8,000 females. The expansion of >200 Cytosine Guanine Guanine (CGG) repeats in the 5′ untranslated region of the Fragile X Mental Retardation 1 (FMR1) gene results in transcriptional silencing on the FMR1 gene with subsequent reduced or absent fragile X mental retardation protein (FMRP), an RNA binding protein involved in the maturation and elimination of synapses. In addition to intellectual disability, common features of FXS are behavioral problems, autism, language deficits and atypical physical features. There are still no currently approved curative therapies for FXS, and clinical management continues to focus on symptomatic treatment of comorbid behaviors and psychiatric problems. Here we discuss several targeted treatments for FXS that are clinically available at present and the data that suggest that these medications can be helpful for those with FXS.

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