Advances in the Treatment of Fragile X Syndrome

Overview

Journal Pediatrics

Specialty Pediatrics

Date 2009 Jan 2

PMID 19117905

Citations 280

Authors

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

Affiliations

Soon will be listed here.

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.

Citing Articles

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