Structural neuroimaging phenotypes and associated molecular and genomic underpinnings in autism: a review

Frontiers in Neuroscience

Neuroscience

Christine Ecker¹  Charlotte M. Pretzsch² 

[1] Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe University, Frankfurt, Germany;Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology, and Neuroscience, King’s College London, London, United Kingdom;

关键词: autism;    autism spectrum disorder;    neuroanatomy;    cortical thickness;    surface area;    cortical volume;    gyrification;    grey-white matter tissue contrast;   

DOI  :  10.3389/fnins.2023.1172779

 received in 2023-02-23, accepted in 2023-06-09,  发布年份 2023

来源: Frontiers

【 摘 要 】

Autism has been associated with differences in the developmental trajectories of multiple neuroanatomical features, including cortical thickness, surface area, cortical volume, measures of gyrification, and the gray-white matter tissue contrast. These neuroimaging features have been proposed as intermediate phenotypes on the gradient from genomic variation to behavioral symptoms. Hence, examining what these proxy markers represent, i.e., disentangling their associated molecular and genomic underpinnings, could provide crucial insights into the etiology and pathophysiology of autism. In line with this, an increasing number of studies are exploring the association between neuroanatomical, cellular/molecular, and (epi)genetic variation in autism, both indirectly and directly in vivo and across age. In this review, we aim to summarize the existing literature in autism (and neurotypicals) to chart a putative pathway from (i) imaging-derived neuroanatomical cortical phenotypes to (ii) underlying (neuropathological) biological processes, and (iii) associated genomic variation.

【 授权许可】

Unknown   
Copyright © 2023 Pretzsch and Ecker.