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

NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

卷:104

Review

Wolfers, Thomas^1,2  Floris, Dorothea L.^1,2  Dinga, Richard³  van Rooij, Daan^1,2  Isakoglou, Christina^1,2  Kia, Seyed Mostafa^1,2  Zabihi, Mariam²  Llera, Alberto^1,2  Chowdanayaka, Rajanikanth⁴  Kumar, Vinod J.⁵  Peng, Han^1,21  Laidi, Charles⁶  Batalle, Dafnis^7,8  Dimitrova, Ralica^7,8  Charman, Tony⁹  Loth, Eva⁷  Lai, Meng-Chuan^10,11,12  Jones, Emily¹³  Baumeister, Sarah¹⁴  Moessnang, Carolin¹⁴  Banaschewski, Tobias¹⁴  Ecker, Christine^7,15  Dumas, Guillaume¹⁶  O'Muircheartaigh, Jonathan^7,8,17  Murphy, Declan^7,8,17  Buitelaar, Jan K.^1,2,18  Marquand, Andre F.^1,2,19  Beckmann, Christian F.^1,2,20,21 

[1] Radboud Univ Nijmegen, Donders Ctr Brain Cognit & Behav, Nijmegen, Netherlands

[2] Radboud Univ Nijmegen, Dept Cognit Neurosci, Med Ctr Nijmegen, Nijmegen, Netherlands

[3] Amsterdam UMC, Dept Psychiat, Amsterdam, Netherlands

[4] Univ Mysore, Dept Genet & Genom, Mysuru, India

[5] Max Planck Inst Biol Cybernet, Tubingen, Germany

[6] Hop Univ Mondor, AP HP, INSERM, U955,Inst Mondor Rech Biomed,Pole Psychiat, Creteil, France

[7] Kings Coll London, Inst Psychiat Psychol & Neurosci, Dept Forens & Neurodev Sci, London, England

[8] Kings Coll London, Ctr Developing Brain, Sch Biomed Engn & Imaging Sci, London, England

[9] Kings Coll London, Inst Psychiat Psychol Neurosci, London, England

[10] Univ Toronto, Dept Psychiat, Ctr Addict & Mental Hlth, Toronto, ON, Canada

[11] Univ Toronto, Dept Psychiat, Hosp Sick Children, Toronto, ON, Canada

[12] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge, England

[13] Natl Taiwan Univ Hosp & Coll Med, Dept Psychiat, Taipei, Taiwan

[14] Univ London, Ctr Brain & Cognit Dev Birkbeck, London, England

[15] Heidelberg Univ, Med Fac Marmheim, Dept Psychiat & Psychothervy, Cent Inst Mental Heald, Mannheim, Germany

[16] Goethe Univ, Dept Child & Adolescent Psychiat, Psychosomat & Psychotherapy, Univ Hosp Frankfurt Main, Frankfurt, Germany

[17] Univ Paris Diderot, CNRS UMR3571 USR 3756, Inst Pasteur, Human Genet & Cognit Funct, Paris, France

[18] Kings Coll London, MRC Ctr Neurodev Disorders, London, England

[19] Radboud Univ Nijmegen, Med Ctr, Karakter Child & Adolescent Psychiat Univ Ctr, Nijmegen, Netherlands

[20] Kings Coll London, Inst Psychiat, Dept Neuroimaging, London, England

[21] Univ Oxford, Ctr Funct MRT Brain FMRIB, Oxford, England

关键词: Autism spectrum disorder;    Machine learning;    Pattern recognition;    Classification;    Clustering;    Stratification;    Biotypes;    Precision medicine;   

DOI  :  10.1016/j.neubiorev.2019.07.010

来源: Elsevier

【 摘 要 】

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.

【 授权许可】

Free