Autism Profiles of Males With Fragile X Syndrome
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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.
“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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De Rubeis, S., Fernández, E., Buzzi, A., Di Marino, D., & Bagni, C. (2012) · Advances in Experimental Medicine and Biology · doi:10.1007/978-3-7091-0932-8_23 · Cited by 48 · see citing works
The autism diagnosis in translation: shared affect in children and mouse models of ASD
Bishop, S. L., & Lahvis, G. P. (2011) · Autism Research · doi:10.1002/aur.216 · Cited by 40 · see citing works
Grigsby, J. (2016) · The Clinical Neuropsychologist · doi:10.1080/13854046.2016.1184652 · Cited by 34 · see citing works
Benachenhou, S., Etcheverry, A., Galarneau, L., Dubé, J., & Çaku, A. (2019) · Autism Research · doi:10.1002/aur.2183 · Cited by 33 · see citing works
Psilocybin mitigates the cognitive deficits observed in a rat model of Fragile X syndrome
Buzzelli, V., Carbone, E., Manduca, A., Schiavi, S., Feo, A., Perederiy, J. V., Ambert, K. H., Hausman, M., & Trezza, V. (2023) · Psychopharmacology · doi:10.1007/s00213-022-06286-3 · Cited by 22 · see citing works
Careaga, M., Noyon, T., Basuta, K., Van de Water, J., Tassone, F., Hagerman, R. J., & Ashwood, P. (2014) · Journal of Neuroinflammation · doi:10.1186/1742-2094-11-110 · Cited by 20 · see citing works
Self-citationAstrocytes in fragile X syndrome
Talvio, K., & Castrén, M. L. (2024) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2023.1322541 · Cited by 8 · see citing works
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
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