TY - JOUR
T1 - Advances in the treatment of fragile x Syndrome
AU - Hagerman, Randi J.
AU - Berry-Kravis, Elizabeth
AU - Kaufmann, Walter E.
AU - Ono, Michele Y.
AU - Tartaglia, Nicole
AU - Lachiewicz, Ave
AU - Kronk, Rebecca
AU - Delahunty, Carol
AU - Hessl, David
AU - Visootsak, Jeannie
AU - Picker, Jonathan
AU - Gane, Louise
AU - Tranfaglia, Michael
PY - 2009/1
Y1 - 2009/1
N2 - 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.
AB - 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.
KW - Fenobam
KW - Fragile x mental retardation protein
KW - Fragile x syndrome, autism, behavioral interventions
KW - Targeted treatments
UR - http://www.scopus.com/inward/record.url?scp=59449085928&partnerID=8YFLogxK
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U2 - 10.1542/peds.2008-0317
DO - 10.1542/peds.2008-0317
M3 - Review article
C2 - 19117905
AN - SCOPUS:59449085928
SN - 0031-4005
VL - 123
SP - 378
EP - 390
JO - Pediatrics
JF - Pediatrics
IS - 1
ER -