Published online December 29, 2008
PEDIATRICS Vol. 123 No. 1 January 2009, pp. 378-390 (doi:10.1542/peds.2008-0317)

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REVIEW ARTICLE

Advances in the Treatment of Fragile X Syndrome

Randi J. Hagerman, MD^a,b, Elizabeth Berry-Kravis, MD, PhD^c,d,e, Walter E. Kaufmann, MD, PhD^f, Michele Y. Ono, MS^a,b, Nicole Tartaglia, MD^g, Ave Lachiewicz, MD^h,i, Rebecca Kronk, PhD, CRNP^j,k, Carol Delahunty, MD^l, David Hessl, PhD^a,m, Jeannie Visootsak, MD^n,o, Jonathan Picker, MD^p,q, Louise Gane, MS^a,b and Michael Tranfaglia, MD^r

^a MIND. Institute
^b Departments of Pediatrics
^m Psychiatry and Behavioral Sciences, University of California, Davis, School of Medicine, Sacramento, California
^c Departments of Pediatrics
^d Neurological Sciences
^e Biochemistry, Rush University Medical Center, Chicago, Illinois
^f Center for Genetic Disorders of Cognition and Behavior, Kennedy-Krieger Institute, John Hopkins University School of Medicine, Baltimore, Maryland
^g Department of Pediatrics, University of Colorado at Denver Health Sciences Center, Denver, Colorado
^h Departments of Pediatrics
ⁱ Psychiatry and Behavioral Sciences, Duke University Medical Center, Durham, North Carolina
^j Department of Psychology in Education
^k School of Nursing, University of Pittsburgh, Pittsburgh, Pennsylvania
^l NeuroDevelopmental Center, Akron Children's Hospital, Akron, Ohio
ⁿ Departments of Human Genetics
^o Pediatrics, Emory University, Atlanta, Georgia
^p Departments of Genetics
^q Child and Adolescent Psychiatry, Children's Hospital Boston, Boston, Massachusetts
^r FRAXA Research Foundation, Newburyport, Massachusetts

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.

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Key Words: fragile X syndrome • autism • behavioral interventions • fragile X mental retardation protein • targeted treatments • fenobam

Abbreviations: ADHD—attention-deficit/hyperactivity disorder • AMPA—-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid • ASD—autism spectrum disorder • BDNF—brain-derived neurotrophic factor • CYFIP1—cytoplasmic FMR1-interacting protein 1 • FMRP—fragile X mental retardation protein • FXS—fragile X syndrome • FXTAS—fragile X-associated tremor/ataxia syndrome • GABA—-aminobutyric acid • mGluR—metabotropic glutamate receptor • PWP—Prader-Willi phenotype • SSRI—selective serotonin reuptake inhibitor

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Accepted Apr 21, 2008.

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