State of the field: Differentiating intellectual disability from autism spectrum disorder
Open accessAbstract
The topic of this special issue on secondary versus idiopathic autism allows for discussion of how different groups may come to manifest autism spectrum disorder (ASD) or ASD-like symptoms despite important etiological differences. A related issue is that, because many of the social-communication deficits that define ASD represent a failure to acquire developmentally expected skills, these same deficits would be expected to occur to some extent in all individuals with intellectual disability (ID). Thus, regardless of etiology, ASD symptoms may appear across groups of individuals with vastly different profiles of underlying deficits and strengths. In this focused review, we consider the impact of ID on the diagnosis of ASD. We discuss behavioral distinctions between ID and ASD, in light of the diagnostic criterion mandating that ASD should not be diagnosed if symptoms are accounted for by ID or general developmental delay. We review the evolution of the autism diagnosis and ASD diagnostic tools to understand how this distinction has been conceptualized previously. We then consider ways that operationalized criteria may be beneficial for making the clinical distinction between ID with and without ASD. Finally, we consider the impact of the blurred diagnostic boundaries between ID and ASD on the study of secondary versus idiopathic ASD. Especially pertinent to this discussion are findings that a diagnosis of ID in the context of an ASD diagnosis may be one of the strongest indicators that an associated condition or specific etiological factor is present (i.e., secondary autism).
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DSM-5 classification of ID severity is based on adaptive functioning across conceptual, social, and practical domains, and the social ability expectations overlap with the social deficits that define ASD.
“DSM-5 classification of ID severity is based on adaptive functioning across conceptual, social, and practical domains, and the social ability expectations overlap with the social deficits that define ASD.20,39”
From Insufficient Evidence for “Autism-Specific” Genes (2020) · cites this paper as [39]
Many instruments developed for the assessment of social communication and interaction were developed primarily in populations without ID, and this complicates assessment of individuals with ID.
“In addition, many instruments developed for the assessment of social communication and interaction were developed primarily in populations without ID, and this complicates assessment of individuals with ID.39,40”
From Insufficient Evidence for “Autism-Specific” Genes (2020) · cites this paper as [39]
Many of the core social communication deficits that characterize ASD represent a failure to acquire developmentally expected skills and are therefore expected to be present to some extent in individuals with ID.
“Many of the core social communication deficits that characterize ASD and are necessary for diagnosis represent a failure to acquire developmentally expected skills and, therefore, are expected to be present to some extent in individuals with ID.39”
From Insufficient Evidence for “Autism-Specific” Genes (2020) · cites this paper as [39]
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Ayed, I. B., Bouchaala, W., Bouzid, A., Feki, W., Souissi, A., Nsir, S. B., Saïd, M. B., Sammouda, T., Majdoub, F., Kharrat, I., et al. (2021) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2021.104373 · Cited by 9 · see citing works
Nguyen, M., Tronick, L. N., Modirian, F., Mardach, R., & Besterman, A. D. (2022) · Molecular Case Studies · doi:10.1101/mcs.a006179 · Cited by 9 · see citing works
- Authors
- Thurm, A., Farmer, C., Salzman, E., Lord, C., & Bishop, S.
- Affiliations
- National Institutes of Health (US)
- University of California, San Francisco (US)
- University of California, Los Angeles (US)
- Corresponding author
- Thurm, Audrey
- Venue
- Frontiers in Psychiatry
- Publisher
- Frontiers Media SA
- Published
- 2019-07-30
- Volume
- 10
- Pages
- 526-526
- ISSN
- 1664-0640 (ISSN-L)
- PMC
- PMC6683759
- OpenAlex
- W2958993741
- Cited by
- 267
- References
- 92
- Citations by year
- 2026: 29 · 2025: 32 · 2024: 48 · 2023: 38 · 2022: 44 · 2021: 51 · 2020: 22 · 2018: 1 · 2012: 1
- FWCI
- 3.71
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Frontiers in Psychiatry (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- eScholarship (California Digital Library) (submittedVersion, cc-by)
- Funders
- National Institute of Mental Health (ZICMH002961)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD093012)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Health Sciences › Medicine › Psychiatry and Mental health › Child Nutrition and Feeding Issues
- Keywords
- intellectual disability, autism spectrum disorder, idiopathic autism, diagnostic criteria, autism diagnosis, developmental delay, social communication deficits, differential diagnosis, autism etiology
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.
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