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 article

    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

    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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  • Cite this

    Hagerman, R. J., Berry-Kravis, E., Kaufmann, W. E., Ono, M. Y., Tartaglia, N., Lachiewicz, A., Kronk, R., Delahunty, C., Hessl, D., Visootsak, J., Picker, J., Gane, L., & Tranfaglia, M. (2009). Advances in the treatment of fragile x Syndrome. Pediatrics, 123(1), 378-390. https://doi.org/10.1542/peds.2008-0317