Aperçu: G.M.
Les approches de classification des motifs et de stratification ont été de plus en plus utilisées dans la recherche sur les "troubles du spectre de l'autisme" (TSA) au cours des dix dernières années dans le but de les traduire en applicabilité clinique.
Nous présentons ici une analyse documentaire approfondie sur ces deux approches. Nous avons examiné au total 635 études, dont 57 études de classification des motifs et 19 études de stratification.
Nous avons observé une grande variance entre les études de classification de modèles en termes de performance prédictive allant d’environ 60% à 98%, ce qui est entre autres facteurs susceptibles d’être liés au biais d’échantillonnage, aux procédures de validation différentes d’une étude à l’autre, à l’hétérogénéité des TSA et à la qualité des données.
Les études de stratification étaient moins prévalentes avec seulement deux études rapportant des réplications et quelques-unes seulement montrant une validation externe.
En résumé, la cartographie des différences biologiques au niveau individuel avec les TSA est un défi majeur pour le domaine. Conceptualiser ces cartographies et trajectoires individuelles menant au diagnostic de TSA deviendra un défi majeur dans un proche avenir.
Wolfers T1, Floris DL2, Dinga R3, van Rooij D2, Isakoglou C2, Kia SM2, Zabihi M2, Llera A2, Chowdanayaka R4, Kumar VJ5, Peng H6, Laidi C7, Batalle D8, Dimitrova R8, Charman T9, Loth E10, Lai MC11, Jones E12, Baumeister S13, Moessnang C13, Banaschewski T13, Ecker C14, Dumas G15, O'Muircheartaigh J16, Murphy D16, Buitelaar JK17, Marquand AF18, Beckmann CF19.
- 1
- 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.
- 2
- 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.
- 3
- Department of Psychiatry, Amsterdam UMC, Amsterdam, the Netherlands.
- 4
- Department of Genetics and Genomics, University of Mysore, Mysuru, India.
- 5
- Max Planck Institute for Biological Cybernetics, Tübingen, Germany.
- 6
- 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.
- 7
- 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.
- 8
- 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.
- 9
- Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, United Kingdom.
- 10
- Department
of Forensic and Neurodevelopmental Science, Institute of Psychiatry,
Psychology & Neuroscience, King's College London, London, United
Kingdom.
- 11
- Centre for Addiction and Mental Health and
The Hospital for Sick Children, Department of Psychiatry, University of
Toronto, Toronto, Ontario, Canada; Autism
Research Centre, Department of Psychiatry, University of Cambridge,
Cambridge, United Kingdom; Department of Psychiatry, National Taiwan
University Hospital and College of Medicine, Taipei, Taiwan.
- 12
- Centre for Brain and Cognitive Development, Birkbeck, University of London, London, United Kingdom.
- 13
- Department
of Child and Adolescent Psychiatry and Psychotherapy, Central Institute
of Mental Health, Medical Faculty Mannheim, Heidelberg University,
Mannheim, Germany.
- 14
- 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.
- 15
- Human Genetics and Cognitive
Functions, Institut Pasteur, Université Paris Diderot, Sorbonne Paris
Cité, CNRS UMR3571 / USR 3756, Paris, France.
- 16
- 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; MRC Centre for Neurodevelopmental Disorders, King's
College London, London, United Kingdom.
- 17
- 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.
- 18
- 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;
Department of Neuroimaging, Institute of Psychiatry, King's College
London, London, United Kingdom.
- 19
- 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.
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. 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.
Copyright © 2019. Published by Elsevier Ltd.
