Neurodevelopmental heterogeneity and computational approaches for understanding autism

Research output: Contribution to journalReview articlepeer-review

40 Scopus citations


In recent years, the emerging field of computational psychiatry has impelled the use of machine learning models as a means to further understand the pathogenesis of multiple clinical disorders. In this paper, we discuss how autism spectrum disorder (ASD) was and continues to be diagnosed in the context of its complex neurodevelopmental heterogeneity. We review machine learning approaches to streamline ASD’s diagnostic methods, to discern similarities and differences from comorbid diagnoses, and to follow developmentally variable outcomes. Both supervised machine learning models for classification outcome and unsupervised approaches to identify new dimensions and subgroups are discussed. We provide an illustrative example of how computational analytic methods and a longitudinal design can improve our inferential ability to detect early dysfunctional behaviors that may or may not reach threshold levels for formal diagnoses. Specifically, an unsupervised machine learning approach of anomaly detection is used to illustrate how community samples may be utilized to investigate early autism risk, multidimensional features, and outcome variables. Because ASD symptoms and challenges are not static within individuals across development, computational approaches present a promising method to elucidate subgroups of etiological contributions to phenotype, alternative developmental courses, interactions with biomedical comorbidities, and to predict potential responses to therapeutic interventions.

Original languageEnglish (US)
Article number63
JournalTranslational psychiatry
Issue number1
StatePublished - Dec 1 2019

Bibliographical note

Funding Information:
This work was supported by R01 MH104324, NIMH K01 MH 101653, Minnesota Clinical & Translational Research funding. We are grateful to Mengdie Wang, Angela Tseng, and Dalia Istephanous for assistance with data and editing. We are thankful to David Redish for his comments on an early version of this manuscript.

Publisher Copyright:
© 2019, The Author(s).


  • Autism Spectrum Disorder/diagnosis
  • Comorbidity
  • Humans
  • Machine Learning
  • Models, Theoretical

PubMed: MeSH publication types

  • Review
  • Research Support, Non-U.S. Gov't
  • Journal Article
  • Research Support, N.I.H., Extramural


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