Advances in the treatment of fragile x Syndrome

Randi J. Hagerman, Elizabeth Berry-Kravis, Walter E. Kaufmann, Michele Y. Ono, Nicole Tartaglia, Ave Lachiewicz, Rebecca Kronk, Carol Delahunty, David Hessl, Jeannie Visootsak, Jonathan Picker, Louise Gane, Michael Tranfaglia

Research output: Contribution to journalReview articlepeer-review

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, multigenrational 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.

Original languageEnglish (US)
Pages (from-to)378-390
Number of pages13
JournalPediatrics
Volume123
Issue number1
DOIs
StatePublished - Jan 2009
Externally publishedYes

Keywords

  • Fenobam
  • Fragile x mental retardation protein
  • Fragile x syndrome, autism, behavioral interventions
  • Targeted treatments

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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