Intractable Rare Dis Res. 2016;5(3):145-157. (DOI: 10.5582/irdr.2016.01048)

Fragile X syndrome: A review of clinical management.

Lozano R, Azarang A, Wilaisakditipakorn T, Hagerman RJ


The fragile X mental retardation 1 gene, which codes for the fragile X mental retardation 1 protein, usually has 5 to 40 CGG repeats in the 5' untranslated promoter. The full mutation is the almost always the cause of fragile X syndrome (FXS). The prevalence of FXS is about 1 in 4,000 to 1 in 7,000 in the general population although the prevalence varies in different regions of the world. FXS is the most common inherited cause of intellectual disability and autism. The understanding of the neurobiology of FXS has led to many targeted treatments, but none have cured this disorder. The treatment of the medical problems and associated behaviors remain the most useful intervention for children with FXS. In this review, we focus on the non-pharmacological and pharmacological management of medical and behavioral problems associated with FXS as well as current recommendations for follow-up and surveillance.

KEYWORDS: Fragile X syndrome, Autism Spectrum Disorder, Intellectual Disability, developmental delay, premutation, clinical management, clinical guidelines, treatment, medical problems, FMR1, FMRP

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