The DOI matches its Crossref record; 57 of the 57 references it cites were found in a registry or an index.
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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Cites
Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-TR)
American Psychiatric Association (2000) · doi:10.1176/appi.books.9780890423349 · Cited by 11,069
Lord, C., Rutter, M., & Le Couteur, A. (1994) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02172145 · Cited by 9,065
Lord, C., Risi, S., Lambrecht, L., Cook, E. H., Leventhal, B. L., DiLavore, P. C., Pickles, A., & Rutter, M. (2000) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1005592401947 · Cited by 7,520
The Autism Diagnostic Observation Schedule: Revised Algorithms for Improved Diagnostic Validity
Gotham, K., Risi, S., Pickles, A., & Lord, C. (2007) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-006-0280-1 · Cited by 1,161
Baron-Cohen, S., Ring, H. A., Bullmore, E. T., Wheelwright, S., Ashwin, C., & Williams, S. C. R. (2000) · Neuroscience & Biobehavioral Reviews · doi:10.1016/s0149-7634(00)00011-7 · Cited by 1,130
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
Self-citationAutism Diagnostic Observation Schedule
Kim, S. H., & Lord, C. (2017) · Springer eBooks · doi:10.1007/978-3-319-56782-2_1520-2 · Cited by 782
Tassone, F., Hagerman, R. J., Taylor, A. K., Gane, L. W., Godfrey, T. E., & Hagerman, P. J. (2000) · The American Journal of Human Genetics · doi:10.1086/302720 · Cited by 779
Self-citationImitation performance in toddlers with autism and those with other developmental disorders
Rogers, S. J., Hepburn, S. L., Stackhouse, T., & Wehner, E. (2003) · Journal of Child Psychology and Psychiatry · doi:10.1111/1469-7610.00162 · Cited by 648
Rogers, S. J., Hepburn, S., & Wehner, E. (2003) · Journal of Autism and Developmental Disorders · doi:10.1023/b:jadd.0000006000.38991.a7 · Cited by 609
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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
Self-citationAutism spectrum disorders-a genetics review
Miles, J. H. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3181ff67ba · Cited by 567
Gao, R., & Penzes, P. (2015) · Current Molecular Medicine · doi:10.2174/1566524015666150303003028 · Cited by 516
“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.”
BackgroundCordeiro, L., Ballinger, E., Hagerman, R., & Hessl, D. (2011) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-010-9067-y · Cited by 316
Self-citationGene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms
Tordjman, S., Somogyi, E., Coulon, N., Kermarrec, S., Cohen, D., Bronsard, G., Bonnot, O., Weismann-Arcache, C., Botbol, M., Lauth, B., et al. (2014) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2014.00053 · Cited by 283
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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