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

来源：

PEDIATRICS | 2009年 / 123卷 / 01期

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

页码：378 / 390

页数：13

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