Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP
Abstract
We examined autistic behavior in a cross‐sectional sample of 179 children with fragile X syndrome (FXS) and a longitudinal subset of 116 children using the Childhood Autism Rating Scale (CARS) to (a) determine a prevalence of autistic behavior in FXS, (b) examine the stability of autistic ratings over time, and (c) assess the association between the fragile X mental retardation protein (FMRP) and autistic behavior. Approximately 21% of the sample of 129 children (25.9% of boys) scored at or above the cutoff for autism. CARS scores increased slowly, yet significantly, over time, and low levels of FMRP were associated with higher mean levels of autistic behavior as measured by the CARS. © 2006 Wiley‐Liss, Inc.
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Most individuals with fragile X syndrome and autism spectrum disorder have significant deficits in social interaction and communication that persist over time, in addition to hand mannerisms and speech problems.
“Most individuals with FXS and ASD have, in addition to the described hand mannerisms and speech problems, significant deficits in social interaction and communication persistently over time (46).”
From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [46]
Published studies report the prevalence rate of Fragile X syndrome and autistic behaviors/ASD diagnosis to range from 25-47%, but sample sizes are often small.
“Published studies have reported the prevalence rate of FXS and autistic behaviors/ASD diagnosis to range from 25–47%, however sample sizes are often small (Hatton et al., 2006; Morton et al., 1997).”
From Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders (2014) · cites this paper as Hatton et al., 2006
A large subset of cases of fragile X meet the diagnostic criteria for autism.
“A large subset of cases of fragile X meet the diagnostic criteria for autism (57, 58).”
From Negative allosteric modulation of the mGluR5 receptor reduces repetitive behaviors and rescues social deficits in mouse models of autism (2012) · cites this paper as [57]
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- Authors
- Hatton, D. D., Sideris, J., Skinner, M., Mankowski, J., Bailey, D. B., Roberts, J., & Mirrett, P.
- Affiliations
- University of North Carolina at Chapel Hill (US)
- University of Washington (US)
- Corresponding author
- Hatton, Deborah D.
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2006-05-12
- Volume
- 140A
- Issue
- 17
- Pages
- 1804-1813
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W2126487937
- Cited by
- 359
- References
- 44
- Citations by year
- 2025: 2 · 2024: 4 · 2023: 8 · 2022: 7 · 2021: 11 · 2020: 12 · 2019: 19 · 2018: 12 · 2017: 27 · 2016: 24 · 2015: 27 · 2014: 27 · 2013: 23 · 2012: 44
- FWCI
- 11.39
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- National Institute of Child Health and Human Development
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (1-R01-HD40602, R01HD040602)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Keywords
- fragile X syndrome, autistic behavior, autism prevalence, FMRP, Childhood Autism Rating Scale, longitudinal stability, children, sex differences
- MeSH terms
- Autistic Disorder, Child, Child Behavior, Child, Preschool, Cross-Sectional Studies, Female, Fragile X Syndrome, Humans, Intelligence Tests, Longitudinal Studies, Male, Prevalence, Fragile X Mental Retardation Protein, Fragile X Messenger Ribonucleoprotein 1
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