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Autism Profiles of Males With Fragile X Syndrome
Open accessAbstract
Autism, which is common in individuals with fragile X syndrome, is often difficult to diagnose. We compared the diagnostic classifications of two measures for autism diagnosis, the ADOS and the ADI-R, in addition to the DSM-IV-TR in 63 males with this syndrome. Overall, 30% of the subjects met criteria for autistic disorder and 30% met criteria for PDD-NOS. The classifications on the ADOS and DSM-IV-TR were most similar, whereas the ADI-R classified subjects as autistic much more frequently. We further investigated the relationship of both FMRP and FMR1 mRNA to symptoms of autism in this cohort and found no significant relationship between the measures of autism and molecular features, including FMRP, FMR1 mRNA, and CGG repeat number.
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“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 [58]
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Hagerman, R. J., Berry-Kravis, E., Hazlett, H. C., Bailey, D. B., Moine, H., Kooy, R. F., Tassone, F., Gantois, I., Sonenberg, N., Mandel, J. L., et al. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.65 · Cited by 838
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“Around 20% of those with FXS meet formal criteria for an ASD [239-242] and 25% exhibit epileptic symptoms [243], thus implicating FMR1 both as an autism susceptibility gene and a regulator of cortical inhibitory function.”
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Metadata
- Authors
- Harris, S. W., Hessl, D., Goodlin-Jones, B., Ferranti, J., Bacalman, S., Barbato, I., Tassone, F., Hagerman, P. J., Herman, K., & Hagerman, R. J.
- Affiliations
- University of California Davis Medical Center (US)
- M.I.N.D. Institute and Department of Psychiatry and Behavioral Sciences, University of California at Davis Medical Center
- Neurogene Clinical Laboratory (Florianopolis, Brazil)
- University of California, Davis (US)
- Venue
- American Journal on Mental Retardation
- Publisher
- Informa UK Limited
- Published
- 2008-11-01
- Volume
- 113
- Issue
- 6
- Pages
- 427-438
- ISSN
- 0895-8017 (ISSN-L)
- PMC
- PMC2629645
- OpenAlex
- W2023122132
- Cited by
- 396
- References
- 57
- Citations by year
- 2026: 4 · 2025: 10 · 2024: 8 · 2023: 8 · 2022: 24 · 2021: 24 · 2020: 18 · 2019: 24 · 2018: 20 · 2017: 36 · 2016: 38 · 2015: 31 · 2014: 40 · 2013: 22 · 2012: 30
- FWCI
- 11.22
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- American Journal on Mental Retardation (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Autism Speaks (AS1751)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD036071, HD 02274, P30HD002274, R01HD036071)
- 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, autism spectrum disorder, autism diagnosis, Autism Diagnostic Observation Schedule, ADI-R, DSM-IV-TR, pervasive developmental disorder not otherwise specified, FMRP, FMR1 mRNA, males
- MeSH terms
- Adaptation, Psychological, Alleles, Autistic Disorder, Cognition Disorders, Fragile X Syndrome, Humans, Male, Neuropsychological Tests, Diagnostic and Statistical Manual of Mental Disorders, Fragile X Messenger Ribonucleoprotein 1, Young Adult
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