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Pediatrics. 2009 Jan;123(1):378-90. doi: 10.1542/peds.2008-0317.

Advances in the treatment of fragile X syndrome.

Author information

  • 1MIND. Institute, University of California Davis, School of Medicine, Sacramento, CA 95817, USA. randi.hagerman@ucdmc.ucdavis.edu

Abstract

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.

PMID:
19117905
[PubMed - indexed for MEDLINE]
PMCID:
PMC2888470
Free PMC Article

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