Advances in the treatment of fragile x Syndrome

Randi J Hagerman, Elizabeth Berry-Kravis, Walter E. Kaufmann, Michele Y. Ono, Nicole Tartaglia, Ave Lachiewicz, Rebecca Kronk, Carol Delahunty, David R Hessl, Jeannie Visootsak, Jonathan Picker, Louise Gane, Michael Tranfaglia

Research output: Contribution to journalArticle

373 Citations (Scopus)

Abstract

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, multigenrational 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.

Original languageEnglish (US)
Pages (from-to)378-390
Number of pages13
JournalPediatrics
Volume123
Issue number1
DOIs
StatePublished - Jan 2009

Fingerprint

Fragile X Syndrome
Mutation
Metabotropic Glutamate 5 Receptor
Primary Ovarian Insufficiency
Behavioral Genetics
Excitatory Amino Acid Antagonists
Metabotropic Glutamate Receptors
Genetic Counseling
Attention Deficit Disorder with Hyperactivity
Autistic Disorder
Cognition
Seizures
Therapeutics
Animal Models

Keywords

  • Fenobam
  • Fragile x mental retardation protein
  • Fragile x syndrome, autism, behavioral interventions
  • Targeted treatments

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

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

Advances in the treatment of fragile x Syndrome. / Hagerman, Randi J; Berry-Kravis, Elizabeth; Kaufmann, Walter E.; Ono, Michele Y.; Tartaglia, Nicole; Lachiewicz, Ave; Kronk, Rebecca; Delahunty, Carol; Hessl, David R; Visootsak, Jeannie; Picker, Jonathan; Gane, Louise; Tranfaglia, Michael.

In: Pediatrics, Vol. 123, No. 1, 01.2009, p. 378-390.

Research output: Contribution to journalArticle

Hagerman, RJ, Berry-Kravis, E, Kaufmann, WE, Ono, MY, Tartaglia, N, Lachiewicz, A, Kronk, R, Delahunty, C, Hessl, DR, Visootsak, J, Picker, J, Gane, L & Tranfaglia, M 2009, 'Advances in the treatment of fragile x Syndrome', Pediatrics, vol. 123, no. 1, pp. 378-390. 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):378-390. https://doi.org/10.1542/peds.2008-0317
Hagerman, Randi J ; Berry-Kravis, Elizabeth ; Kaufmann, Walter E. ; Ono, Michele Y. ; Tartaglia, Nicole ; Lachiewicz, Ave ; Kronk, Rebecca ; Delahunty, Carol ; Hessl, David R ; Visootsak, Jeannie ; Picker, Jonathan ; Gane, Louise ; Tranfaglia, Michael. / Advances in the treatment of fragile x Syndrome. In: Pediatrics. 2009 ; Vol. 123, No. 1. pp. 378-390.
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