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Cited by 596Genetics and Neurodevelopmental DisordersGenetic Neurodegenerative DiseasesAutism Spectrum Disorder Research

Advances in the Treatment of Fragile X Syndrome

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Hagerman, Randi J., Berry-Kravis, Elizabeth, Kaufmann, Walter E., Ono, Michele Y., Tartaglia, Nicole, Lachiewicz, Ave, Kronk, Rebecca, Delahunty, Carol +5 more·2009·Pediatrics
DOI 10.1542/peds.2008-0317PMC PMC2888470
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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.

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  • Fragile X syndrome (FXS) is an X-linked neurodevelopmental disorder associated with autism, learning disabilities, abnormal attention, hyperactive and impulsive behaviors, and epilepsy, affecting approximately 1 in 4,000 males.

    “Fragile X syndrome (FXS) is an X-linked neurodevelopmental disorder associated with autism, learning disabilities, abnormal attention, hyperactive and impulsive behaviors, and epilepsy, affecting approximately 1 in 4,000 males 89 .”

    From Developmental timing and critical windows for the treatment of psychiatric disorders (2016) · cites this paper as [89]

  • Methylphenidate may target both symptoms and core neurobiological deficits in fragile X syndrome.

    “a stimulant such as methylphenidate, which is commonly used to treat the symptoms of hyperactivity and attention deficits in FXS18, may target symptoms as well as core neurobiological deficits in FXS.”

    From Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome (2018) · cites this paper as [18]

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Cited by

Sorted by citations

Authors
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.
Affiliations
  • MIND. Institute
  • Departments of Pediatrics
  • Kennedy Krieger Institute (US)
  • University of Colorado Denver (US)
  • Duke University (US)
  • University of Pittsburgh (US)
  • Akron Children's Hospital (US)
  • University of California, Davis (US)
  • Emory University (US)
  • Boston Children's Hospital (US)
  • Fraxa Research Foundation (US)
ORCID
Venue
Pediatrics
Publisher
American Academy of Pediatrics (AAP)
Published
2009-01-01
Volume
123
Issue
1
Pages
378-390
ISSN
  • 0031-4005 (ISSN-L)
  • 1098-4275
DOI
10.1542/peds.2008-0317
PMC
PMC2888470
OpenAlex
W2166329705
Cited by
596
References
11
Citations by year
2026: 8 · 2025: 10 · 2024: 16 · 2023: 15 · 2022: 33 · 2021: 26 · 2020: 25 · 2019: 38 · 2018: 25 · 2017: 45 · 2016: 37 · 2015: 33 · 2014: 51 · 2013: 40 · 2012: 28
FWCI
5.19
Type
journal article
Language
en
Open access
Locations
  • PEDIATRICS (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • National Institutes of Health (KL2TR000455, UL1TR000454)
  • Centers for Disease Control and Prevention (U50DD000596)
  • National Institute on Aging (AG032115, RL1AG032115)
  • National Institute of Mental Health (MH77554, K23MH077554)
  • National Institute of Dental and Craniofacial Research (UL1DE019583, DE019583)
  • National Center for Research Resources (RR-024146, K12RR017643, UL1RR024146, KL2RR025009)
  • National Center for Advancing Translational Sciences
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD036071, HD 02274, HD24061, P30HD002274, P30HD024061, K23HD058043, R01HD036071)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Keywords
fragile X syndrome, FMRP, mGluR5, fragile X-associated tremor/ataxia syndrome, primary ovarian insufficiency, autism spectrum disorder, attention deficit hyperactivity disorder, cognitive impairment, seizures, genetic counseling, family support, behavioral interventions
MeSH terms
Animals, Fragile X Syndrome, Humans, Mutation, Genetic Therapy, Excitatory Amino Acid Antagonists

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