Autism spectrum heterogeneity: fact or artifact?

  title={Autism spectrum heterogeneity: fact or artifact?},
  author={Laurent Mottron and Danilo Bzdok},
  journal={Molecular Psychiatry},
  pages={3178 - 3185}
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… 

A radical change in our autism research strategy is needed: Back to prototypes

  • L. Mottron
  • Psychology
    Autism research : official journal of the International Society for Autism Research
  • 2021
It is argued that an emphasis on the reliability rather than specificity of diagnostic criteria and the misuse of diagnostic instruments leads to confound autism with the entire range of neurodevelopmental conditions and personality variants and is proposed to change research strategy by focusing on the study of the latter, fewer in number, but more representative of the "prototype" of autism.

Autism Spectrum Disorder and IQ – A Complex Interplay

Differences in IQ profiles between epidemiological and clinical studies are discussed and potential underlying aspects are identified, for example, the influence of external factors such as sample biases or differences in availability of autism health services are identified.

Pattern Unifies Autism

  • B. Crespi
  • Psychology
    Frontiers in Psychiatry
  • 2021
It is suggested that the large suite of traits associated with autism can be usefully conceptualized under the single rubric of “pattern,” a term that connects autism with basic brain and cognitive functions and structures its phenotypes within a single theoretical framework.

Autism spectrum disorder.

  • L. Mottron
  • Psychology, Biology
    Handbook of clinical neurology
  • 2020

A convergent structure-function substrate of cognitive imbalances in autism

Results show that intelligence disparities are accentuated in ASD and relate to a consistent structure-function substrate affecting multiple brain networks, alongside with sensory and higher cognitive networks.

Rethinking Our Concepts and Assumptions About Autism

It is argued that the concept of autism along with the assumptions that surround it require some rethinking, and called for the allowance of multiple other possible definitions that are better tailored to be highly useful for other translational end goals, such as explaining differential BOT responses.

Diagnosing as autistic people increasingly distant from prototypes lead neither to clinical benefit nor to the advancement of knowledge

In a nutshell, it is recommended initiating a second round in the recognition-definition-recognition cycle that defines a clinical entity, and separately investigating those who correspond to phenotypically homogeneous categories within the current ‘’autism spectrum”.

Fractionating autism based on neuroanatomical normative modeling

A novel methodological framework for parsing neuroanatomical subtypes within a large cohort of individuals with autism, and five biologically based putative subtypes showed morphometric differences from one another, providing a potential explanation for inconsistent case–control findings in autism.

Conceptualization of the latent structure of autism: further evidence and discussion of dimensional and hybrid models

Autism spectrum disorder (ASD) might be conceptualized as an essentially dimensional, categorical, or hybrid model. Yet, current empirical studies are inconclusive and the latent structure of ASD has

Node Centrality Measures Identify Relevant Structural MRI Features of Subjects with Autism

This work applied a network-based analysis on sMRI data from the Autism Brain Imaging Data Exchange I (ABIDE-I) database, containing 419 features extracted with FreeSurfer software to characterize not only variations in the values of the extracted features but also in their mutual relationships that might reflect underlying brain structural differences between autistic subjects and healthy controls.



The Quantitative Nature of Autistic Social Impairment

A recent body of research in genetics and epidemiology is presented to examine a dimensional reconceptualization of autistic social impairment—as manifested in clinical autistic syndromes, the broader autism phenotype, and normal variation in the general population.

Criteria, categories, and continua: autism and related disorders in DSM-5.

  • F. Happé
  • Psychology
    Journal of the American Academy of Child and Adolescent Psychiatry
  • 2011

Multidimensional Influences on Autism Symptom Measures: Implications for Use in Etiological Research.

State of the Field: Differentiating Intellectual Disability From Autism Spectrum Disorder

Findings are found 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).

Heterogeneity of subclinical autistic traits among parents of children with autism spectrum disorder: Identifying the broader autism phenotype with a data‐driven method

The heterogeneity of autistic traits is investigated using latent class analysis (LCA) of the Autism Spectrum Quotient (AQ) ratings of 673 parents of children with ASD and 147 parents of typically developing children to find two distinct subgroups, including a "low‐scoring" and a "high‐scorer (BAP)" groups.

Validation of a Brief Quantitative Measure of Autistic Traits: Comparison of the Social Responsiveness Scale with the Autism Diagnostic Interview-Revised

The Social Responsiveness Scale is a valid quantitative measure of autistic traits, feasible for use in clinical settings and for large-scale research studies of autism spectrum conditions.

Identification of Developmental and Behavioral Markers Associated With Genetic Abnormalities in Autism Spectrum Disorder.

Analysis of phenotypic profiles of ASD probands with or without identified de novo loss of function mutations or copy number variants in high-confidence ASD-associated genes or loci suggests that examining early milestone differences and standardized testing results may be helpful in etiologic efforts, and potentially in clinical differentiation of various subtypes of ASD, but only if developmental and demographic variables are properly accounted for first.

Global Prevalence of Autism and Other Pervasive Developmental Disorders

Findings in epidemiological surveys of autistic disorder and pervasive developmental disorders worldwide most likely represent broadening of the diagnostic concets, diagnostic switching from other developmental disabilities to PDD, service availability, and awareness of autistic spectrum disorders in both the lay and professional public.

Recent advances in autism research as reflected in DSM-5 criteria for autism spectrum disorder.

The contribution of clinical psychology research, along with that of other disciplines, to the current conceptualization of ASD is critically considered, using DSM-5 diagnostic criteria as a framework for discussion.