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Current Pediatric Reviews


ISSN (Print): 1573-3963
ISSN (Online): 1875-6336

Review Article

New Targeted Treatments for Fragile X Syndrome

Author(s): Dragana Protic*, Maria J. Salcedo-Arellano, Jeanne Barbara Dy, Laura A. Potter and Randi J. Hagerman

Volume 15, Issue 4, 2019

Page: [251 - 258] Pages: 8

DOI: 10.2174/1573396315666190625110748


Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability with prevalence rates estimated to be 1:5,000 in males and 1:8,000 in females. The increase 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 a subsequent reduction or absence of 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 treatments that target the neurobiological pathway abnormal in FXS. These medications are clinically available at present and the data suggest that these medications can be helpful for those with FXS.

Keywords: Fragile X syndrome, targeted treatment, sertraline, metformin, cannabidiol, acamprosate, lovastatin, minocycline.

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