The DOI matches its Crossref record; 62 of the 63 references it cites were found in a registry or an index.
Discontinuity in the genetic and environmental causes of the intellectual disability spectrum
Open accessAbstract
Significance: Intellectual disability (ID) is present in almost 3% of children and fundamentally characterized by IQ scores below 70. Genetic research has shown that it is among the most heritable traits, and it has been accepted that ID is the extreme low of the normal IQ distribution. However, we show that, while the genetic and environmental factors influencing mild ID (lowest 3% of IQ distribution) are similar to those influencing IQ in the normal range, factors influencing severe ID (lowest 0.5%) differ from those influencing mild ID or IQ scores in the normal range. Therefore, severe ID is a distinct disorder, qualitatively different from the majority of ID, which in turn represents the low extreme of the normal distribution of intelligence.
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“Family studies yield high heritability estimates in ASD (Yip et al., 2018), whereas estimates of heritability in severe NDD are lower (Reichenberg et al., 2016)”
From Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism (2020) · cites this paper as Reichenberg et al., 2016
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Cites
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GWAS of 126,559 Individuals Identifies Genetic Variants Associated with Educational Attainment
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Self-citationAdvancing Paternal Age and Autism
Reichenberg, A., Gross, R., Weiser, M., Bresnahan, M. A., Silverman, J. M., Harlap, S., Rabinowitz, J., Shulman, C., Malaspina, D., Lubin, G., et al. (2006) · Archives of General Psychiatry · doi:10.1001/archpsyc.63.9.1026 · Cited by 686
Self-citationCommon disorders are quantitative traits
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Research works printed but not linked: 2
- R Plomin, JC DeFries, VS Knopik, JM Neiderhiser Behavioral Genetics (6th Ed, Worth Publishers, New York, 2012).
- N Brill Recall bias in schizophrenia. PhD thesis (Bar-Ilan Univeristy, Ramat-Gan, Israel, 2005).
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Identification of common genetic risk variants for autism spectrum disorder
Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium, Grove, J., BUPGEN, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, 23andMe Research Team, Ripke, S., Als, T. D., Mattheisen, M., Walters, R. K., Won, H., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0344-8 · Cited by 2,421
Self-citationSatterstrom, F. K., Kosmicki, J. A., Wang, J., Breen, M. S., De Rubeis, S., An, J.-Y., Peng, M., Collins, R., Grove, J., Klei, L., et al. (2020) · Cell · doi:10.1016/j.cell.2019.12.036 · Cited by 2,321
The new genetics of intelligence
Plomin, R. J., & von Stumm, S. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2017.104 · Cited by 525
Self-citationTop 10 Replicated Findings From Behavioral Genetics
Plomin, R., DeFries, J. C., Knopik, V. S., & Neiderhiser, J. M. (2016) · Perspectives on Psychological Science · doi:10.1177/1745691615617439 · Cited by 517
Self-citationKosmicki, J. A., Samocha, K. E., Howrigan, D. P., Sanders, S. J., Slowikowski, K., Lek, M., Karczewski, K. J., Cutler, D. J., Devlin, B., Roeder, K., et al. (2017) · Nature Genetics · doi:10.1038/ng.3789 · Cited by 340
Metadata
- Authors
- Reichenberg, A., Cederlöf, M., McMillan, A., Trzaskowski, M., Kapra, O., Fruchter, E., Ginat, K., Davidson, M., Weiser, M., Larsson, H., Plomin, R., & Lichtenstein, P.
- Affiliations
- Icahn School of Medicine at Mount Sinai (US)
- Karolinska Institutet (SE)
- King's College London (GB)
- Sheba Medical Center (IL)
- Department of Mental Health, Israel Medical Corps, 01259 Tel-Hashomer, Israel
- Corresponding author
- Reichenberg, Abraham
- ORCID
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2015-12-28
- Volume
- 113
- Issue
- 4
- Pages
- 1098-1103
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC4743770
- OpenAlex
- W2215537341
- Cited by
- 115
- References
- 63
- Citations by year
- 2026: 2 · 2025: 8 · 2024: 20 · 2023: 11 · 2022: 10 · 2021: 15 · 2020: 5 · 2019: 15 · 2018: 11 · 2017: 13 · 2016: 4 · 2015: 1
- FWCI
- 10.34
- Type
- journal article
- Language
- en
- Update notices
- correction (2017-09-25)
- Open access
- bronze
- doi.org
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Research Portal (King's College London) (submittedVersion, cc-by)
- Funders
- Medical Research Council (295366)
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Social Sciences › Psychology › Experimental and Cognitive Psychology › Cognitive Abilities and Testing
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- intellectual disability, severe intellectual disability, mild intellectual disability, IQ distribution, genetic architecture, environmental influences, heritability, common genetic variants, rare mutations, twin and sibling studies, extreme phenotypes
- MeSH terms
- Adolescent, Environment, Female, Humans, Intelligence, Male, Intellectual Disability, Twins
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