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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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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
Naviaux, J. C., Wang, L., Li, K., Bright, A., Alaynick, W. A., Williams, K. R., Powell, S. B., & Naviaux, R. K. (2015) · Molecular Autism · doi:10.1186/2040-2392-6-1 · Cited by 285
Georgiades, S., Szatmari, P., Boyle, M., Hanna, S., Duku, E., Zwaigenbaum, L., Bryson, S., Fombonne, E., Volden, J., Mirenda, P., et al. (2013) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2012.02588.x · Cited by 257
Autism spectrum disorder in fragile X syndrome: cooccurring conditions and current treatment
Kaufmann, W. E., Kidd, S. A., Andrews, H. F., Budimirovic, D. B., Esler, A., Haas-Givler, B., Stackhouse, T., Riley, C., Peacock, G., Sherman, S. L., et al. (2017) · PEDIATRICS · doi:10.1542/peds.2016-1159f · Cited by 268
Silverman, J. L., Smith, D. G., Rizzo, S. J. S., Karras, M. N., Turner, S. M., Tolu, S. S., Bryce, D. K., Smith, D. L., Fonseca, K., Ring, R. H., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3003501 · Cited by 251
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Hagerman, R., Hoem, G., & Hagerman, P. (2010) · Molecular Autism · doi:10.1186/2040-2392-1-12 · Cited by 247
Self-citationModeling fragile X syndrome in the Fmr1 knockout mouse
Kazdoba, T. M., Leach, P. T., Silverman, J. L., & Crawley, J. N. (2014) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2014.01024 · Cited by 241
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Grafodatskaya, D., Chung, B., Szatmari, P., & Weksberg, R. (2010) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2010.05.005 · Cited by 235
Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome
Hoeffer, C. A., Sanchez, E., Hagerman, R. J., Mu, Y., Nguyen, D. V., Wong, H., Whelan, A. M., Zukin, R. S., Klann, E., & Tassone, F. (2012) · Genes, Brain and Behavior · doi:10.1111/j.1601-183x.2012.00768.x · Cited by 198
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Berg, J. M., & Geschwind, D. H. (2012) · Genome Biology · doi:10.1186/gb-2012-13-7-247 · Cited by 192
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Wang, L. W., Berry-Kravis, E., & Hagerman, R. J. (2010) · Neurotherapeutics · doi:10.1016/j.nurt.2010.05.005 · Cited by 176
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State, M. W. (2010) · Neuron · doi:10.1016/j.neuron.2010.10.004 · Cited by 162
High MMP-9 activity levels in fragile X syndrome are lowered by minocycline
Dziembowska, M., Pretto, D. I., Janusz, A., Kaczmarek, L., Leigh, M. J., Gabriel, N., Durbin‐Johnson, B., Hagerman, R. J., & Tassone, F. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36023 · Cited by 161
Self-citationMcLennan, Y., Polussa, J., Tassone, F., & Hagerman, R. (2011) · Current Genomics · doi:10.2174/138920211795677886 · Cited by 160
Self-citationVeenstra-VanderWeele, J., & Blakely, R. D. (2012) · Neuropsychopharmacology · doi:10.1038/npp.2011.185 · Cited by 128
Epigenetics of Autism Spectrum Disorder
Siu, M. T., & Weksberg, R. (2017) · Advances in Experimental Medicine and Biology · doi:10.1007/978-3-319-53889-1_4 · Cited by 121
Greiss Hess, L., Fitzpatrick, S. E., Nguyen, D. V., Chen, Y., Gaul, K. N., Schneider, A., Lemons Chitwood, K., Eldeeb, M. A. A. A., Polussa, J., Hessl, D., et al. (2016) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/dbp.0000000000000334 · Cited by 122
Self-citationChonchaiya, W., Au, J., Schneider, A., Hessl, D., Harris, S. W., Laird, M., Mu, Y., Tassone, F., Nguyen, D. V., & Hagerman, R. J. (2012) · Human Genetics · doi:10.1007/s00439-011-1106-6 · Cited by 109
Self-citationGenetic manipulation of STEP reverses behavioral abnormalities in a fragile X syndrome mouse model
Goebel‐Goody, S. M., Wilson‐Wallis, E. D., Royston, S., Tagliatela, S. M., Naegele, J. R., & Lombroso, P. J. (2012) · Genes, Brain and Behavior · doi:10.1111/j.1601-183x.2012.00781.x · Cited by 108
Lebersfeld, J. B., Swanson, M., Clesi, C. D., & O’Kelley, S. E. (2021) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-020-04839-z · Cited by 111
Klusek, J., Martin, G. E., & Losh, M. (2014) · Journal of Intellectual Disability Research · doi:10.1111/jir.12121 · Cited by 99
Greco, C. M., Navarro, C. S., Hunsaker, M. R., Maezawa, I., Shuler, J. F., Tassone, F., Delany, M., Au, J. W., Berman, R. F., Jin, L.-W., et al. (2011) · Molecular Autism · doi:10.1186/2040-2392-2-2 · Cited by 90
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Lightbody, A. A., & Reiss, A. L. (2009) · Developmental Disabilities Research Reviews · doi:10.1002/ddrr.77 · Cited by 85
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García‐Nonell, C., Ratera, E. R., Harris, S., Hessl, D., Ono, M. Y., Tartaglia, N., Marvin, E., Tassone, F., & Hagerman, R. J. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32290 · Cited by 76
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Dölen, G. (2015) · Journal of Neuroendocrinology · doi:10.1111/jne.12284 · Cited by 65
Indah Winarni, T., Chonchaiya, W., Adams, E., Au, J., Mu, Y., Rivera, S. M., Nguyen, D. V., & Hagerman, R. J. (2012) · Autism Research and Treatment · doi:10.1155/2012/104317 · Cited by 52
Self-citationVisual attention and autistic behavior in infants with fragile X syndrome
Roberts, J. E., Hatton, D. D., Long, A. C. J., Anello, V., & Colombo, J. (2012) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-011-1316-8 · Cited by 50
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
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
Grigsby, J. (2016) · The Clinical Neuropsychologist · doi:10.1080/13854046.2016.1184652 · Cited by 34
Benachenhou, S., Etcheverry, A., Galarneau, L., Dubé, J., & Çaku, A. (2019) · Autism Research · doi:10.1002/aur.2183 · Cited by 33
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
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
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
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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