Genesis, modelling and methodological remedies to autism heterogeneity

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Rabot, J., Rødgaard, E. M., Joober, R., Dumas, G., Bzdok, D., Bernhardt, B., Jacquemont, S., & Mottron, L. (2023). Genesis, modelling and methodological remedies to autism heterogeneity. Neuroscience & Biobehavioral Reviews, 150, 105201. https://doi.org/10.1016/j.neubiorev.2023.105201

Publication date: 26 Apr 2023 Added to AutiHub: 15 Sep 2026 Type: Article Article language: English
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Authors

Publication authors
8
Publication authors identified as autistic
1 / 8 (12.5%)
  1. Juliette Rabot
  2. Eya-Mist Rødgaard *
  3. Ridha Joober
  4. Guillaume Dumas
  1. Danilo Bzdok
  2. Boris Bernhardt
  3. Sebastien Jacquemont
  4. Laurent Mottron

Abstract

Diagnostic criteria used in autism research have undergone a shift towards the inclusion of a larger population, paralleled by increasing, but variable, estimates of autism prevalence across clinical settings and continents. A categorical diagnosis of autism spectrum disorder is now consistent with large variations in language, intelligence, comorbidity, and severity, leading to a heterogeneous sample of individuals, increasingly distant from the initial prototypical descriptions. We review the history of autism diagnosis and subtyping, and the evidence of heterogeneity in autism at the cognitive, neurological, and genetic levels. We describe two strategies to address the problem of heterogeneity: clustering, and truncated-compartmentalized enrollment strategy based on prototype recognition. The advances made using clustering methods have been modest. We present an alternative, new strategy for dissecting autism heterogeneity, emphasizing incorporation of prototypical samples in research cohorts, comparison of subgroups defined by specific ranges of values for the clinical specifiers, and retesting the generality of neurobiological results considered to be acquired from the entire autism spectrum on prototypical cohorts defined by narrow specifiers values.

Bibliography cited by this reference

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Cited bibliography overview

These indicators describe the bibliography cited by this publication. An author name is counted each time it appears in one cited reference, so the same person can be counted more than once. Names not yet linked to an author already present in AutiHub are treated as unknown, not as non-autistic. Last computed: 15 Sep 2026 07:45.

Cited references
160
With a DOI
151
Without a DOI, from raw bibliography text
9
6 / 160 (3.8%) cited references include at least one author identified as autistic.
References with data to complete
4 / 160 (2.5%)
References with detected author names
156 / 160 (97.5%)
Without detected author names
4
Without a structured title
4
Without a stable identifier
9
References with raw author names still to review
4
References with external metadata lookup issues
0
These indicators apply to cited references displayed on this page, after technical duplicates have been merged. A reference without a DOI can still support author statistics when a title and author names are available.
Author names detected in the cited bibliography
3169
From DOI or external metadata
3169
From validated raw bibliography text
0
Raw names already validated
0
Raw names still to review
10
304 / 3169 (9.6%) names are linked to an author already present in AutiHub. 2865 / 3169 (90.4%) names are not yet linked.
Names linked to a person identified as autistic
6 / 3169 (0.2%)
Calculated across all author names detected in the cited bibliography. Among names linked to an author already present in AutiHub: 6 / 304 (2.0%). Distinct people identified as autistic: 5 / 2832 (0.2%).
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