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lüll Advances in the treatment of fragile X syndrome 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 MPediatrics 2009[Jan]; 123 (1): 378-90The 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.|Animals[MESH]|Excitatory Amino Acid Antagonists/therapeutic use[MESH]|Fragile X Syndrome/*diagnosis/genetics/*therapy[MESH]|Genetic Therapy/trends[MESH]|Humans[MESH]|Mutation/genetics[MESH] |