Advances in the treatment of fragile X syndrome.

Journal Article (Journal Article;Review)

The FMR1 mutations can cause a variety of disabilities, including cognitive deficits, attention-deficit/hyperactivity disorder, autism, and other socioemotional problems, in individuals with the full mutation form (fragile X syndrome) and distinct difficulties, including primary ovarian insufficiency, neuropathy and the fragile X-associated tremor/ataxia syndrome, in some older premutation carriers. Therefore, multigenerational family involvement is commonly encountered when a proband is identified with a FMR1 mutation. Studies of metabotropic glutamate receptor 5 pathway antagonists in animal models of fragile X syndrome have demonstrated benefits in reducing seizures, improving behavior, and enhancing cognition. Trials of metabotropic glutamate receptor 5 antagonists are beginning with individuals with fragile X syndrome. Targeted treatments, medical and behavioral interventions, genetic counseling, and family supports are reviewed here.

Full Text

Duke Authors

Cited Authors

  • Hagerman, RJ; Berry-Kravis, E; Kaufmann, WE; Ono, MY; Tartaglia, N; Lachiewicz, A; Kronk, R; Delahunty, C; Hessl, D; Visootsak, J; Picker, J; Gane, L; Tranfaglia, M

Published Date

  • January 2009

Published In

Volume / Issue

  • 123 / 1

Start / End Page

  • 378 - 390

PubMed ID

  • 19117905

Pubmed Central ID

  • PMC2888470

Electronic International Standard Serial Number (EISSN)

  • 1098-4275

Digital Object Identifier (DOI)

  • 10.1542/peds.2008-0317


  • eng

Conference Location

  • United States