The DOI matches its Crossref record; 25 of the 25 references it cites were found in a registry or an index.
Familial aggregation of quantitative autistic traits in multiplex versus simplex autism
Open accessAbstract
Recent research has suggested that the mode of inheritance for simplex autism (SA, one individual in the family affected) may be distinct from that for multiplex autism (MA, two or more individuals affected). Since sub clinical autistic traits have been observed in "unaffected" relatives of children with autism, we explored whether the distributions of such traits in families supported differential modes of genetic transmission for SA and MA autism. We measured patterns of familial aggregation of quantitative autistic traits (QAT) in children and parents in 80 SA families and 210 MA families, using the Social Responsiveness Scale. When considering all SA and MA siblings who scored below a uniform quantitative (clinical-level) severity threshold, MA brothers exhibited a distinct pathological shift in the distribution, compared to SA brothers (P < 0.0001). Such aggregation of QAT was also observed in fathers but not among females in MA families. Significant spousal correlations for QAT-suggestive of assortative mating-were observed in both SA and MA families, but neither group was characterized by a greater-than-chance level of concordant elevation among spousal pairs in this volunteer sample. Among male first degree relatives, there exist distinct patterns of QAT manifestation for simplex versus multiplex autism. These findings are consistent with the results of molecular genetic studies that have suggested differential modes of intergenerational transmission for SA and MA. Characterization of QAT and other endophenotypes among close relatives may be useful for reducing sample heterogeneity in future genetic and neurobiologic studies of autism.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“Recent family data based on the social responsiveness scale (SRS), which is a quantitative measure of autism-related features heavily weighted on social factors, suggests that this is indeed the case [40].”
From Genetics of autism spectrum disorders (2011) · cites this paper as [40]
In the citing paper
“familial aggregation of subclinical autistic traits may occur only in multiplex families”
From Autism risk factors: genes, environment, and gene-environment interactions (2012) · cites this paper as [18]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Strong association of de novo copy number mutations with autism
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795
Association between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075974 · Cited by 1,666
Constantino, J. N., Davis, S. A., Todd, R. D., Schindler, M. K., Gross, M. M., Brophy, S. L., Metzger, L. M., Shoushtari, C. S., Splinter, R., & Reich, W. (2003) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1025014929212 · Cited by 1,611
Autistic Traits in the General Population: A Twin Study
Constantino, J. N., & Todd, R. D. (2003) · Archives of General Psychiatry · doi:10.1001/archpsyc.60.5.524 · Cited by 1,317
Broader autism phenotype: evidence from a family history study of multiple-incidence autism families
(1997) · American Journal of Psychiatry · doi:10.1176/ajp.154.2.185 · Cited by 777
A Genomic Screen of Autism: Evidence for a Multilocus Etiology
Risch, N., Spiker, D., Lotspeich, L., Nouri, N., Hinds, D., Hallmayer, J., Kalaydjieva, L., McCague, P., Dimiceli, S., Pitts, T., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302497 · Cited by 684
Association Between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Sæmundsen, E., Stefánsson, H., Ferreira, M. A. R., Green, T. J., et al. (2008) · Obstetrical & Gynecological Survey · doi:10.1097/01.ogx.0000316305.61461.6f · Cited by 647
Intergenerational transmission of subthreshold autistic traits in the general population
Constantino, J. N., & Todd, R. D. (2005) · Biological Psychiatry · doi:10.1016/j.biopsych.2004.12.014 · Cited by 519
A Broader Phenotype of Autism: The Clinical Spectrum in Twins
Couteur, A. S. L., Bailey, A. J., Goode, S., Pickles, A. R., Gottesman, I. I., Robertson, S., & Rutter, M. L. (1996) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.1996.tb01475.x · Cited by 457
A genetic variant that disrupts MET transcription is associated with autism
Campbell, D. B., Sutcliffe, J. S., Ebert, P. J., Militerni, R., Bravaccio, C., Trillo, S., Elia, M., Schneider, C., Melmed, R., Sacco, R., et al. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0605296103 · Cited by 401
Research works printed but not linked: 1
- Constantino JN, 2005, The social responsiveness scale manual
Cited by
Sorted by citations
Items 201–220 of 220
Nürnberger, J. I. (2019) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.733529089.793563000
Alkuraya, F. S. (2019) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.736388363.793563929
Lee, M., & Losh, M. C. (2020) · Springer eBooks · doi:10.1007/978-1-4614-6435-8_102466-1
Kooy, R. F. (2019) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.736388363.793564139
Pedram, M., Eftekhar, M., Panahi, Y., & Eskandari, M. R. (2022) · Nöro Psikiyatri Arşivi · doi:10.29399/npa.28020
Anbar, J. S., Matthews, N. L., James, S., Ariff, A., Pierce, K., & Smith, C. J. (2023) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-022-05890-8
Boys’ Club: Sexual Dimorphism in Autism Spectrum Disorder
Slat, E. A., & Glowinski, A. L. (2017) · JAACAP Connect · doi:10.62414/001c.92567
Additional file 3 of Mate selection and current trends in the prevalence of autism
Forsen, E., Marrus, N. M., Joyce, J., Zhang, Y., & Constantino, J. N. (2024) · Figshare · doi:10.6084/m9.figshare.26749895
Additional file 2 of Mate selection and current trends in the prevalence of autism
Forsen, E., Marrus, N. M., Joyce, J., Zhang, Y., & Constantino, J. N. (2024) · Figshare · doi:10.6084/m9.figshare.26749892
Additional file 5 of Mate selection and current trends in the prevalence of autism
Forsen, E., Marrus, N. M., Joyce, J., Zhang, Y., & Constantino, J. N. (2024) · Figshare · doi:10.6084/m9.figshare.26749901
Additional file 6 of Mate selection and current trends in the prevalence of autism
Forsen, E., Marrus, N. M., Joyce, J., Zhang, Y., & Constantino, J. N. (2024) · Figshare · doi:10.6084/m9.figshare.26749904
Additional file 1 of Phenotypic and ancestry-related assortative mating in autism
Zhang, J., Weissenkampen, J. D., Kember, R. L., Grove, J., Børglum, A. D., Robinson, E., Brodkin, E. S., Almasy, L. A., Bućan, M., & Sebro, R. (2024) · Figshare · doi:10.6084/m9.figshare.26043692
Additional file 7 of Mate selection and current trends in the prevalence of autism
Forsen, E., Marrus, N. M., Joyce, J., Zhang, Y., & Constantino, J. N. (2024) · Figshare · doi:10.6084/m9.figshare.26749907
Additional file 4 of Mate selection and current trends in the prevalence of autism
Forsen, E., Marrus, N. M., Joyce, J., Zhang, Y., & Constantino, J. N. (2024) · Figshare · doi:10.6084/m9.figshare.26749898
Additional file 2 of Phenotypic and ancestry-related assortative mating in autism
Zhang, J., Weissenkampen, J. D., Kember, R. L., Grove, J., Børglum, A. D., Robinson, E., Brodkin, E. S., Almasy, L. A., Bućan, M., & Sebro, R. (2024) · Figshare · doi:10.6084/m9.figshare.26043803
Additional file 1 of Mate selection and current trends in the prevalence of autism
Forsen, E., Marrus, N. M., Joyce, J., Zhang, Y., & Constantino, J. N. (2024) · Figshare · doi:10.6084/m9.figshare.26749889
Dayal, H., Juneja, M., Mishra, D., Gupta, A., Jain, R., & Sairam, S. (2026) · Developmental Neurorehabilitation · doi:10.1080/17518423.2026.2665087
Genetic Factors Associated with Autism Spectrum Disorders
Deisinger, J. A. (2012) · Emerald Group Publishing Limited eBooks · doi:10.1108/978-1-61735-782-420251005
Greenlee, J. L. (2026) · Theory & Psychology · doi:10.1177/09593543261458008
Craig, F., Muratori, F., Devescovi, R., Tritto, G., Palermo, G., & Turi, M. (2026) · Frontiers in Child and Adolescent Psychiatry · doi:10.3389/frcha.2026.1842230
Metadata
- Authors
- Virkud, Y. V., Todd, R. D., Abbacchi, A. M., Zhang, Y., & Constantino, J. N.
- Affiliations
- Washington University in St. Louis (US)
- Corresponding author
- Constantino, John N.
- Venue
- American Journal of Medical Genetics Part B Neuropsychiatric Genetics
- Publisher
- Wiley
- Published
- 2008-07-10
- Volume
- 150B
- Issue
- 3
- Pages
- 328-334
- ISSN
- 1552-4841 (ISSN-L)
- 1552-485X
- PMC
- PMC2819431
- OpenAlex
- W1974652030
- Cited by
- 215
- References
- 25
- Citations by year
- 2026: 4 · 2025: 1 · 2024: 7 · 2023: 8 · 2022: 8 · 2021: 17 · 2020: 9 · 2019: 15 · 2018: 16 · 2017: 13 · 2016: 15 · 2015: 18 · 2014: 15 · 2013: 10 · 2012: 21
- FWCI
- 6.55
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- American Journal of Medical Genetics Part B Neuropsychiatric Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Autism Speaks
- National Institutes of Health
- National Institute of Mental Health (MH 64547, R01MH064547)
- National Institute of Child Health and Human Development
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD42541, R01HD042541)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Keywords
- autism spectrum disorder, familial aggregation, mode of inheritance, Social Responsiveness Scale, endophenotypes, assortative mating, spousal concordance, first-degree relatives, sample heterogeneity, genetic transmission
- MeSH terms
- Autistic Disorder, Child, Child, Preschool, Family, Female, Humans, Male, Parents, Pedigree, Phenotype, Psychiatric Status Rating Scales, Social Behavior, Quantitative Trait, Heritable, Siblings
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.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
