Autism spectrum heterogeneity: fact or artifact?

Mol Psychiatry. 2020 Dec;25(12):3178-3185. doi: 10.1038/s41380-020-0748-y. Epub 2020 Apr 30.


The current diagnostic practices are linked to a 20-fold increase in the reported prevalence of ASD over the last 30 years. Fragmenting the autism phenotype into dimensional "autistic traits" results in the alleged recognition of autism-like symptoms in any psychiatric or neurodevelopemental condition and in individuals decreasingly distant from the typical population, and prematurely dismisses the relevance of a diagnostic threshold. Non-specific socio-communicative and repetitive DSM 5 criteria, combined with four quantitative specifiers as well as all their possible combinations, render limitless variety of presentations consistent with the categorical diagnosis of ASD. We propose several remedies to this problem: maintain a line of research on prototypical autism; limit the heterogeneity compatible with a categorical diagnosis to situations with a phenotypic overlap and a validated etiological link with prototypical autism; reintroduce the qualitative properties of autism presentations and of current dimensional specifiers, language, intelligence, comorbidity, and severity in the criteria used to diagnose autism in replacement of quantitative "social" and "repetitive" criteria; use these qualitative features combined with the clinical intuition of experts and machine-learning algorithms to differentiate coherent subgroups in today's autism spectrum; study these subgroups separately, and then compare them; and question the autistic nature of "autistic traits".

Publication types

  • Review

MeSH terms

  • Artifacts
  • Autism Spectrum Disorder* / epidemiology
  • Autism Spectrum Disorder* / genetics
  • Autistic Disorder* / diagnosis
  • Autistic Disorder* / genetics
  • Child
  • Child Development Disorders, Pervasive* / epidemiology
  • Comorbidity
  • Diagnostic and Statistical Manual of Mental Disorders
  • Humans