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Advances in the treatment of fragile X syndrome.

Publication ,  Journal Article
Hagerman, RJ; Berry-Kravis, E; Kaufmann, WE; Ono, MY; Tartaglia, N; Lachiewicz, A; Kronk, R; Delahunty, C; Hessl, D; Visootsak, J; Picker, J ...
Published in: Pediatrics
January 2009

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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Published In

Pediatrics

DOI

EISSN

1098-4275

Publication Date

January 2009

Volume

123

Issue

1

Start / End Page

378 / 390

Location

United States

Related Subject Headings

  • Pediatrics
  • Mutation
  • Humans
  • Genetic Therapy
  • Fragile X Syndrome
  • Excitatory Amino Acid Antagonists
  • Animals
  • 52 Psychology
  • 42 Health sciences
  • 32 Biomedical and clinical sciences
 

Citation

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ICMJE
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Hagerman, R. J., Berry-Kravis, E., Kaufmann, W. E., Ono, M. Y., Tartaglia, N., Lachiewicz, A., … Tranfaglia, M. (2009). Advances in the treatment of fragile X syndrome. Pediatrics, 123(1), 378–390. https://doi.org/10.1542/peds.2008-0317
Hagerman, Randi J., Elizabeth Berry-Kravis, Walter E. Kaufmann, Michele Y. Ono, Nicole Tartaglia, Ave Lachiewicz, Rebecca Kronk, et al. “Advances in the treatment of fragile X syndrome.Pediatrics 123, no. 1 (January 2009): 378–90. https://doi.org/10.1542/peds.2008-0317.
Hagerman RJ, Berry-Kravis E, Kaufmann WE, Ono MY, Tartaglia N, Lachiewicz A, et al. Advances in the treatment of fragile X syndrome. Pediatrics. 2009 Jan;123(1):378–90.
Hagerman, Randi J., et al. “Advances in the treatment of fragile X syndrome.Pediatrics, vol. 123, no. 1, Jan. 2009, pp. 378–90. Pubmed, doi:10.1542/peds.2008-0317.
Hagerman RJ, Berry-Kravis E, Kaufmann WE, Ono MY, Tartaglia N, Lachiewicz A, Kronk R, Delahunty C, Hessl D, Visootsak J, Picker J, Gane L, Tranfaglia M. Advances in the treatment of fragile X syndrome. Pediatrics. 2009 Jan;123(1):378–390.

Published In

Pediatrics

DOI

EISSN

1098-4275

Publication Date

January 2009

Volume

123

Issue

1

Start / End Page

378 / 390

Location

United States

Related Subject Headings

  • Pediatrics
  • Mutation
  • Humans
  • Genetic Therapy
  • Fragile X Syndrome
  • Excitatory Amino Acid Antagonists
  • Animals
  • 52 Psychology
  • 42 Health sciences
  • 32 Biomedical and clinical sciences