期刊
PEDIATRICS
卷 123, 期 1, 页码 378-390出版社
AMER ACAD PEDIATRICS
DOI: 10.1542/peds.2008-0317
关键词
fragile X syndrome; autism; behavioral interventions; fragile X mental retardation protein; targeted treatments; fenobam
类别
资金
- National Fragile X Foundation
- National Institutes of Health [HD036071, HD02274, AG032115, DE019583, RR024146]
- Administration of Developmental Disabilities Center of Excellence in Developmental Disabilities [90DD0596]
- National Institute of Child Health and Human Development [HD24061]
- National Institutes of Health/National Center for Research Resources [5K12RR017643, 1KL2RR025009]
- Spastic Paralysis and Allied Diseases of the Central Nervous System Research Foundation of the Illinois-Eastern Iowa District of Kiwanis International
- National Institute of Mental Health [MH77554]
- FRAXA Research Foundation
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT [P30HD002274, R01HD036071, P30HD024061, K23HD058043] Funding Source: NIH RePORTER
- NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES [UL1TR000454, KL2TR000455] Funding Source: NIH RePORTER
- NATIONAL CENTER FOR RESEARCH RESOURCES [UL1RR024146, KL2RR025009, K12RR017643] Funding Source: NIH RePORTER
- National Center on Birth Defects and Developmental Disabilities [U50DD000596] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF DENTAL &CRANIOFACIAL RESEARCH [UL1DE019583] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF MENTAL HEALTH [K23MH077554] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE ON AGING [RL1AG032115] Funding Source: NIH RePORTER
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
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