Cited by 85Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchFetal and Pediatric Neurological Disorders

Gene, brain, and behavior relationships in fragile X syndrome: Evidence from neuroimaging studies

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Lightbody, Amy A., Reiss, Allan L.·2009·Developmental Disabilities Research Reviews

Abstract

Fragile X syndrome (FraX) remains the most common inherited cause of intellectual disability and provides a valuable model for studying gene‐brain‐behavior relationships. Over the past 15 years, structural and functional magnetic resonance imaging studies have emerged with the goal of better understanding the neural pathways contributing to the cognitive and behavioral outcomes seen in individuals with FraX. Specifically, structural MRI studies have established and begun to refine the specific topography of neuroanatomical variation associated with FraX. In addition, functional neuroimaging studies have begun to elucidate the neural underpinnings of many of the unique characteristics of FraX including difficulties with eye gaze, executive functioning, and behavioral inhibition. This review highlights studies with a focus on the relevant gene‐brain‐behavior connections observed in FraX. The relationship of brain regions and activation patterns to FMRP are discussed as well as the clinical cognitive and behavioral correlates of these neuroimaging findings. © 2009 Wiley‐Liss, Inc. Dev Disabil Res Rev 2009;15:343–352.

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Authors
Lightbody, A. A., & Reiss, A. L.
Affiliations
Stanford University (US)
Corresponding author
Lightbody, Amy A.
Venue
Developmental Disabilities Research Reviews
Publisher
Wiley
Published
2009-01
Volume
15
Issue
4
Pages
343-352
ISSN
  • 1940-5510 (ISSN-L)
  • 1940-5529
OpenAlex
W2035813262
Cited by
85
References
76
Citations by year
2026: 2 · 2025: 3 · 2024: 2 · 2023: 5 · 2022: 4 · 2021: 5 · 2020: 2 · 2019: 1 · 2018: 1 · 2017: 3 · 2016: 7 · 2015: 7 · 2014: 5 · 2013: 6 · 2012: 9
FWCI
1.01
Type
journal article
Language
en
Open access
Locations
  • Developmental Disabilities Research Reviews (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
Funders
National Institute of Mental Health (R01MH050047)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
Keywords
fragile X syndrome, gene-brain-behavior relationship, FMRP, intellectual disability, neuroanatomical variation, gaze, executive function, behavioral inhibition, brain activation patterns
MeSH terms
Brain, Caudate Nucleus, Cerebellum, Fragile X Syndrome, Humans, Magnetic Resonance Imaging, Intellectual Disability, Social Behavior, Fragile X Messenger Ribonucleoprotein 1, Fragile X Mental Retardation Protein

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