Psychotic symptoms in 16p11.2 copy‐number variant carriers
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Abstract
16p11.2 copy‐number variation (CNV) is implicated in neurodevelopmental disorders, with the duplication and deletion associated with autism spectrum disorder (ASD) and the duplication associated with schizophrenia (SCZ). The 16p11.2 CNV may therefore provide insight into the relationship between ASD and SCZ, distinct disorders that co‐occur at an elevated rate, and are difficult to distinguish from each other and from common co‐occurring diagnoses such as obsessive compulsive disorder (OCD), itself a potential risk factor for SCZ. As psychotic symptoms are core to SCZ but distinct from ASD, we sought to examine their predictors in a population ( n = 546) of 16p11.2 CNV carriers and their noncarrier siblings recruited by the Simons Variation in Individuals Project. We hypothesized that psychotic symptoms would be most common in duplication carriers followed by deletion carriers and noncarriers, that an ASD diagnosis would predict psychotic symptoms among CNV carriers, and that OCD symptoms would predict psychotic symptoms among all participants. Using data collected across multiple measures, we identified 19 participants with psychotic symptoms. Logistic regression models adjusting for biological sex, age, and IQ found that 16p11.2 duplication and ASD diagnosis predicted psychotic symptom presence. Our findings suggest that the association between 16p11.2 duplication and psychotic symptoms is independent of ASD diagnosis and that ASD diagnosis and psychotic symptoms may be associated in 16p11.2 CNV carriers. Autism Res 2020, 13: 187–198 . © 2019 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary: Either deletion or duplication at chromosome 16p11.2 raises the risk of autism spectrum disorder, and duplication, but not deletion, has been reported in schizophrenia (SCZ). In a sample of 16p11.2 deletion and duplication carriers, we found that having the duplication or having an autism diagnosis may increase the risk of psychosis, a key feature of SCZ.
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In one study, both 16p11.2 deletion and duplication carriers exhibited psychotic symptoms, though only duplication was a significant predictor of psychotic symptoms.
“In one study, both 16p11.2 deletion and duplication carriers exhibited psychotic symptoms, though only the duplication was a significant predictor of psychotic symptoms [44].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [44]
Sex was not a significant predictor of psychosis in 16p11.2 CNV carriers.
“However, another study found that sex was not a significant predictor of psychosis in 16p11.2 CNV carriers [44].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [44]
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Lord, C., Elsabbagh, M., Baird, G., & Veenstra-Vanderweele, J. (2018) · The Lancet · doi:10.1016/s0140-6736(18)31129-2 · Cited by 2,819 · see citing works
Self-citationAutism Diagnostic Interview-Revised
Rutter, M., LeCouteur, A., & Lord, C. (2016) · PsycTESTS Dataset · doi:10.1037/t18128-000 · Cited by 1,627 · see citing works
Standardizing ADOS Scores for a Measure of Severity in Autism Spectrum Disorders
Gotham, K., Pickles, A., & Lord, C. (2009) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-008-0674-3 · Cited by 1,605 · see citing works
A copy number variation map of the human genome
Zarrei, M., MacDonald, J. R., Merico, D., & Scherer, S. W. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3871 · Cited by 921 · see citing works
Microduplications of 16p11.2 are associated with schizophrenia
Wellcome Trust Case Control Consortium, McCarthy, S. E., Makarov, V., Kirov, G., Addington, A. M., McClellan, J., Yoon, S., Perkins, D. O., Dickel, D. E., Kusenda, M., et al. (2009) · Nature Genetics · doi:10.1038/ng.474 · Cited by 711 · see citing works
Copy-number variations associated with neuropsychiatric conditions
Cook Jr, E. H., & Scherer, S. W. (2008) · Nature · doi:10.1038/nature07458 · Cited by 659 · see citing works
Hus, V., & Lord, C. (2014) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-014-2080-3 · Cited by 547 · see citing works
Neurodevelopmental hypothesis of schizophrenia
Owen, M. J., O'Donovan, M. C., Thapar, A., & Craddock, N. (2011) · British Journal of Psychiatry · doi:10.1192/bjp.bp.110.084384 · Cited by 500 · see citing works
Analysis of copy number variations at 15 schizophrenia-associated loci
Rees, E., Walters, J. T. R., Georgieva, L., Isles, A. R., Chambert, K. D., Richards, A. L., Mahoney-Davies, G., Legge, S. E., Moran, J. L., McCarroll, S. A., et al. (2014) · British Journal of Psychiatry · doi:10.1192/bjp.bp.113.131052 · Cited by 443 · see citing works
Childhood schizophrenia reconsidered
Rutter, M. (1972) · Journal of Autism and Childhood Schizophrenia · doi:10.1007/bf01537622 · Cited by 440 · see citing works
Auditory hallucinations across the lifespan: a systematic review and meta-analysis
Maijer, K., Begemann, M. J. H., Palmen, S. J. M. C., Leucht, S., & Sommer, I. E. C. (2018) · Psychological Medicine · doi:10.1017/s0033291717002367 · Cited by 180 · see citing works
Mazefsky, C. A., Anderson, R., Conner, C. M., & Minshew, N. (2011) · Journal of Psychopathology and Behavioral Assessment · doi:10.1007/s10862-010-9198-1 · Cited by 127 · see citing works
Duarte, C. S., Bordin, I. A. S., Oliveira, A. D., & Bird, H. (2003) · Journal of Autism and Developmental Disorders · doi:10.1023/b:jadd.0000006005.31818.1c · Cited by 113 · see citing works
Common variant at 16p11.2 conferring risk of psychosis
Steinberg, S., de Jong, S., Mattheisen, M., Costas, J., Demontis, D., Jamain, S., Pietiläinen, O. P. H., Lin, K., Papiol, S., Huttenlocher, J., et al. (2014) · Molecular Psychiatry · doi:10.1038/mp.2012.157 · Cited by 104 · see citing works
Polygenic risk score and heritability estimates reveals a genetic relationship between ASD and OCD
Guo, W., Samuels, J. F., Wang, Y., Cao, H., Ritter, M., Nestadt, P. S., Krasnow, J., Greenberg, B. D., Fyer, A. J., McCracken, J. T., et al. (2017) · European Neuropsychopharmacology · doi:10.1016/j.euroneuro.2017.03.011 · Cited by 59 · see citing works
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16p11.2 Copy Number Variations and Neurodevelopmental Disorders
Rein, B., & Yan, Z. (2020) · Trends in Neurosciences · doi:10.1016/j.tins.2020.09.001 · Cited by 160 · see citing works
- Authors
- Jutla, A., Turner, J. B., Green Snyder, L., Chung, W. K., & Veenstra‐VanderWeele, J.
- Affiliations
- New York State Psychiatric Institute (US)
- Simons Foundation New York New York
- Columbia University Irving Medical Center (US)
- Department of Psychiatry Columbia University New York New York
- Corresponding author
- Jutla, Amandeep
- Venue
- Autism Research
- Publisher
- Wiley
- Published
- 2019-11-14
- Volume
- 13
- Issue
- 2
- Pages
- 187-198
- ISSN
- 1939-3792 (ISSN-L)
- 1939-3806
- OpenAlex
- W2989021123
- Cited by
- 21
- References
- 15
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 5 · 2023: 1 · 2022: 3 · 2021: 4 · 2020: 3
- FWCI
- 1.51
- Type
- journal article
- Language
- en
- Open access
- green
- doi.org
- Licence
- Locations
- Autism Research (publishedVersion)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Funders
- Simons Foundation Autism Research Initiative
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Keywords
- psychotic symptoms, schizophrenia, autism spectrum disorder, obsessive-compulsive disorder, 16p11.2 duplication, 16p11.2 deletion, neurodevelopmental disorders, co-occurring diagnoses
- MeSH terms
- Autism Spectrum Disorder, Adolescent, Adult, Chromosome Deletion, Chromosomes, Human, Pair 16, Female, Humans, Male, Psychotic Disorders, Schizophrenia, Young Adult, DNA Copy Number Variations, Chromosome Duplication
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