From pattern classification to stratification: towards conceptualizing the heterogeneity of Autism Spectrum Disorder.

Journal: Neuroscience and biobehavioral reviews
Published Date: Jul 19, 2019

Abstract

Pattern classification and stratification approaches have increasingly been used in research on Autism Spectrum Disorder (ASD) over the last ten years with the goal of translation towards clinical applicability. Here, we present an extensive scoping literature review on those two approaches. We screened a total of 635 studies, of which 57 pattern classification and 19 stratification studies were included. We observed large variance across pattern classification studies in terms of predictive performance from about 60% to 98% accuracy, which is among other factors likely linked to sampling bias, different validation procedures across studies, the heterogeneity of ASD and differences in data quality. Stratification studies were less prevalent with only two studies reporting replications and just a few showing external validation. While some identified strata based on cognition and intelligence reappear across studies, biology as a stratification marker is clearly underexplored. In summary, mapping biological differences at the level of the individual with ASD is a major challenge for the field now. Conceptualizing those mappings and individual trajectories that lead to the diagnosis of ASD, will become a major challenge in the near future.

Authors

  • Thomas Wolfers
    Donders Center for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen, the Netherlands; Department for Cognitive Neuroscience, Radboud University Medical Center Nijmegen, Nijmegen, the Netherlands. Electronic address: t.wolfers@donders.ru.nl.
  • Dorothea L Floris
    Donders Center for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen, the Netherlands; Department for Cognitive Neuroscience, Radboud University Medical Center Nijmegen, Nijmegen, the Netherlands.
  • Richard Dinga
    Department of Psychiatry and Amsterdam Neuroscience, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands.
  • Daan van Rooij
    Donders Center for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen, the Netherlands; Department for Cognitive Neuroscience, Radboud University Medical Center Nijmegen, Nijmegen, the Netherlands.
  • Christina Isakoglou
    Donders Center for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen, the Netherlands; Department for Cognitive Neuroscience, Radboud University Medical Center Nijmegen, Nijmegen, the Netherlands.
  • Seyed Mostafa Kia
    Donders Center for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen, the Netherlands; Department for Cognitive Neuroscience, Radboud University Medical Center Nijmegen, Nijmegen, the Netherlands.
  • Mariam Zabihi
    Donders Center for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen, the Netherlands; Department for Cognitive Neuroscience, Radboud University Medical Center Nijmegen, Nijmegen, the Netherlands.
  • Alberto Llera
    Donders Center for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen, the Netherlands; Department for Cognitive Neuroscience, Radboud University Medical Center Nijmegen, Nijmegen, the Netherlands.
  • Rajanikanth Chowdanayaka
    Department of Genetics and Genomics, University of Mysore, Mysuru, India.
  • Vinod J Kumar
    Max Planck Institute for Biological Cybernetics, Tübingen, Germany.
  • Han Peng
    Donders Center for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen, the Netherlands; Centre for Functional MRI of the Brain (FMRIB), University of Oxford, Oxford, United Kingdom.
  • Charles Laidi
    Institut National de la Santé et de la Recherche Médicale (INSERM), U955, Institut Mondor de Recherche Biomédicale, Pôle de Psychiatrie, Assistance Publique-Hôpitaux de Paris (AP-HP), Faculté de Médecine de Créteil, DHU PePsy, Hôpitaux Universitaires Mondor, Créteil, France.
  • Dafnis Batalle
    Department of Forensic and Neurodevelopmental Science, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, United Kingdom; Centre for the Developing Brain, School of Biomedical Engineering & Imaging Sciences, King's College London, London, United Kingdom.
  • Ralica Dimitrova
    Department of Forensic and Neurodevelopmental Science, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, United Kingdom; Centre for the Developing Brain, School of Biomedical Engineering & Imaging Sciences, King's College London, London, United Kingdom.
  • Tony Charman
    Institute of Psychiatry, Psychology, and Neuroscience.
  • Eva Loth
    Department of Forensic and Neurodevelopmental Science, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, United Kingdom.
  • Meng-Chuan Lai
    2Centre for Addiction and Mental Health and The Hospital for Sick Children, Toronto, Canada.
  • Emily Jones
    Centre for Brain and Cognitive Development, Birkbeck, University of London, London, United Kingdom.
  • Sarah Baumeister
    Department Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
  • Carolin Moessnang
    Department Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
  • Tobias Banaschewski
    Department of Child and Adolescent Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Square J5, 68159 Mannheim, Germany.
  • Christine Ecker
    Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt am Main, Goethe-University, Frankfurt am Main, Germany; Department of Forensic and Neurodevelopmental Science, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, United Kingdom.
  • Guillaume Dumas
    Human Genetics and Cognitive Functions, Institut Pasteur, Université Paris Diderot, Sorbonne Paris Cité, CNRS UMR3571 / USR 3756, Paris, France.
  • Jonathan O'Muircheartaigh
    Department of Neuroimaging, Institute of Psychiatry, Centre for Neuroimaging Sciences, King's College London, London, United Kingdom.
  • Declan Murphy
    Sir Peter MacCallum Department of Surgical Oncology, University of Melbourne, 305 Grattan Street, Melbourne, Australia.
  • Jan K Buitelaar
    Donders Center for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen, the Netherlands; Department for Cognitive Neuroscience, Radboud University Medical Center Nijmegen, Nijmegen, the Netherlands; Karakter Child and Adolescent Psychiatry University Center, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Andre F Marquand
    Department of Neuroimaging, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, United Kingdom.
  • Christian F Beckmann
    Donders Center for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen, the Netherlands; Department for Cognitive Neuroscience, Radboud University Medical Center Nijmegen, Nijmegen, the Netherlands; Centre for Functional MRI of the Brain (FMRIB), University of Oxford, Oxford, United Kingdom.

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