Fragile X syndrome: A review of clinical management

Reymundo Lozano, Atoosa Azarang, Tanaporn Wilaisakditipakorn, Randi J Hagerman

Research output: Contribution to journalReview article

26 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)145-157
Number of pages13
JournalIntractable and Rare Diseases Research
Volume5
Issue number3
DOIs
StatePublished - 2016

Keywords

  • Autism Spectrum Disorder
  • Clinical guidelines
  • Clinical management
  • Developmental delay
  • FMR1
  • FMRP
  • Fragile X syndrome
  • Intellectual Disability
  • Medical problems
  • Premutation
  • Treatment

ASJC Scopus subject areas

  • Medicine(all)

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