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, whereas estimates of heritability in severe NDD are lower.
“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
The Results report negligible group-differences familiality for severe intellectual disability, compared with 43–47% for mild intellectual disability. But the Discussion says the authors could not use twin data to estimate heritability for severe intellectual disability. The paper therefore supports a narrower comparison of familiality in intellectual disability, not the claim that heritability estimates are lower across severe neurodevelopmental disorders. (LLM, conf=0.88)
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- 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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