Dimensional Neuroimaging Endophenotypes: Neurobiological Representations of Disease Heterogeneity Through Machine Learning. Biol Psychiatry 2024 Oct 01;96(7):564-584
Date
05/09/2024Pubmed ID
38718880Pubmed Central ID
PMC11374488DOI
10.1016/j.biopsych.2024.04.017Scopus ID
2-s2.0-85195576462 (requires institutional sign-in at Scopus site) 4 CitationsAbstract
Machine learning has been increasingly used to obtain individualized neuroimaging signatures for disease diagnosis, prognosis, and response to treatment in neuropsychiatric and neurodegenerative disorders. Therefore, it has contributed to a better understanding of disease heterogeneity by identifying disease subtypes with different brain phenotypic measures. In this review, we first present a systematic literature overview of studies using machine learning and multimodal magnetic resonance imaging to unravel disease heterogeneity in various neuropsychiatric and neurodegenerative disorders, including Alzheimer's disease, schizophrenia, major depressive disorder, autism spectrum disorder, and multiple sclerosis, as well as their potential in a transdiagnostic framework, where neuroanatomical and neurobiological commonalities were assessed across diagnostic boundaries. Subsequently, we summarize relevant machine learning methodologies and their clinical interpretability. We discuss the potential clinical implications of the current findings and envision future research avenues. Finally, we discuss an emerging paradigm called dimensional neuroimaging endophenotypes. Dimensional neuroimaging endophenotypes dissects the neurobiological heterogeneity of neuropsychiatric and neurodegenerative disorders into low-dimensional yet informative, quantitative brain phenotypic representations, serving as robust intermediate phenotypes (i.e., endophenotypes), presumably reflecting the interplay of underlying genetic, lifestyle, and environmental processes associated with disease etiology.
Author List
Wen J, Antoniades M, Yang Z, Hwang G, Skampardoni I, Wang R, Davatzikos CAuthor
Gyujoon Hwang PhD Assistant Professor in the Psychiatry and Behavioral Medicine department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
BrainEndophenotypes
Humans
Machine Learning
Magnetic Resonance Imaging
Mental Disorders
Neurodegenerative Diseases
Neuroimaging
