Advances in the Treatment of Fragile X Syndrome
10.1542/peds.2008-0317
Crossref journal-article
American Academy of Pediatrics (AAP)
Pediatrics (417)
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, 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.

Bibliography

Hagerman, R. J., Berry-Kravis, E., Kaufmann, W. E., Ono, M. Y., Tartaglia, N., Lachiewicz, A., Kronk, R., Delahunty, C., Hessl, D., Visootsak, J., Picker, J., Gane, L., & Tranfaglia, M. (2009). Advances in the Treatment of Fragile X Syndrome. Pediatrics, 123(1), 378–390.

Authors 13
  1. Randi J. Hagerman (first)
  2. Elizabeth Berry-Kravis (additional)
  3. Walter E. Kaufmann (additional)
  4. Michele Y. Ono (additional)
  5. Nicole Tartaglia (additional)
  6. Ave Lachiewicz (additional)
  7. Rebecca Kronk (additional)
  8. Carol Delahunty (additional)
  9. David Hessl (additional)
  10. Jeannie Visootsak (additional)
  11. Jonathan Picker (additional)
  12. Louise Gane (additional)
  13. Michael Tranfaglia (additional)
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Dates
Type When
Created 16 years, 8 months ago (Dec. 29, 2008, 10:58 a.m.)
Deposited 6 months, 4 weeks ago (Feb. 6, 2025, 10:14 a.m.)
Indexed 1 week, 1 day ago (Aug. 26, 2025, 2:51 a.m.)
Issued 16 years, 8 months ago (Jan. 1, 2009)
Published 16 years, 8 months ago (Jan. 1, 2009)
Published Online 16 years, 8 months ago (Jan. 1, 2009)
Published Print 16 years, 8 months ago (Jan. 1, 2009)
Funders 0

None

@article{Hagerman_2009, title={Advances in the Treatment of Fragile X Syndrome}, volume={123}, ISSN={1098-4275}, url={http://dx.doi.org/10.1542/peds.2008-0317}, DOI={10.1542/peds.2008-0317}, number={1}, journal={Pediatrics}, publisher={American Academy of Pediatrics (AAP)}, author={Hagerman, Randi J. and Berry-Kravis, Elizabeth and Kaufmann, Walter E. and Ono, Michele Y. and Tartaglia, Nicole and Lachiewicz, Ave and Kronk, Rebecca and Delahunty, Carol and Hessl, David and Visootsak, Jeannie and Picker, Jonathan and Gane, Louise and Tranfaglia, Michael}, year={2009}, month=jan, pages={378–390} }