Advances in the Treatment of Fragile X Syndrome

被引:401
作者
Hagerman, Randi J. [1 ,2 ]
Berry-Kravis, Elizabeth [4 ,5 ,6 ]
Kaufmann, Walter E. [7 ]
Ono, Michele Y. [1 ,2 ]
Tartaglia, Nicole [8 ]
Lachiewicz, Ave [9 ,10 ]
Kronk, Rebecca [11 ,12 ]
Delahunty, Carol [13 ]
Hessl, David [1 ,3 ]
Visootsak, Jeannie [14 ,15 ]
Picker, Jonathan [16 ,17 ]
Gane, Louise [1 ,2 ]
Tranfaglia, Michael [18 ]
机构
[1] Univ Calif Davis, Sch Med, MIND Inst, Sacramento, CA 95817 USA
[2] Univ Calif Davis, Sch Med, Dept Pediat, Sacramento, CA 95817 USA
[3] Univ Calif Davis, Sch Med, Dept Psychiat & Behav Sci, Sacramento, CA 95817 USA
[4] Rush Univ, Med Ctr, Dept Pediat, Chicago, IL 60612 USA
[5] Rush Univ, Med Ctr, Dept Neurol Sci, Chicago, IL 60612 USA
[6] Rush Univ, Med Ctr, Dept Biochem, Chicago, IL 60612 USA
[7] Johns Hopkins Univ, Sch Med, Kennedy Krieger Inst, Ctr Genet Disorders Cognit & Behav, Baltimore, MD 21205 USA
[8] Univ Colorado, Hlth Sci Ctr, Dept Pediat, Denver, CO 80262 USA
[9] Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA
[10] Duke Univ, Med Ctr, Dept Psychiat & Behav Sci, Durham, NC 27710 USA
[11] Univ Pittsburgh, Dept Educ Psychol, Pittsburgh, PA USA
[12] Univ Pittsburgh, Sch Nursing, Pittsburgh, PA 15261 USA
[13] Akron Childrens Hosp, Neurodev Ctr, Akron, OH USA
[14] Emory Univ, Dept Human Genet, Atlanta, GA 30322 USA
[15] Emory Univ, Dept Pediat, Atlanta, GA 30322 USA
[16] Childrens Hosp, Dept Genet, Boston, MA 02115 USA
[17] Childrens Hosp, Dept Child & Adolescent Psychiat, Boston, MA 02115 USA
[18] FRAXA Res Fdn, Newburyport, MA USA
基金
美国国家卫生研究院;
关键词
fragile X syndrome; autism; behavioral interventions; fragile X mental retardation protein; targeted treatments; fenobam; MENTAL-RETARDATION PROTEIN; PERVASIVE DEVELOPMENTAL DISORDERS; DEFICIT HYPERACTIVITY DISORDER; SEROTONIN REUPTAKE INHIBITORS; FMR1; MESSENGER-RNA; ATTENTION-DEFICIT; MOUSE MODEL; SYNAPTIC PLASTICITY; DOUBLE-BLIND; TREMOR/ATAXIA SYNDROME;
D O I
10.1542/peds.2008-0317
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
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. Pediatrics 2009;123:378-390
引用
收藏
页码:378 / 390
页数:13
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