The neuroanatomy of autism spectrum disorder: An overview of structural neuroimaging findings and their translatability to the clinical setting

Abstract

Autism spectrum disorder is a complex neurodevelopmental disorder, which is accompanied by differences in brain anatomy, functioning and brain connectivity. Due to its neurodevelopmental character, and the large phenotypic heterogeneity among individuals on the autism spectrum, the neurobiology of autism spectrum disorder is inherently difficult to describe. Nevertheless, significant progress has been made in characterizing the neuroanatomical underpinnings of autism spectrum disorder across the human life span, and in identifying the molecular pathways that may be affected in autism spectrum disorder. Moreover, novel methodological frameworks for analyzing neuroimaging data are emerging that make it possible to characterize the neuroanatomy of autism spectrum disorder on the case level, and to stratify individuals based on their individual phenotypic make up. While these approaches are increasingly more often employed in the research setting, their applicability in the clinical setting remains a vision for the future. The aim of the current review is to (1) provide a general overview of recent structural neuroimaging findings examining the neuroanatomy of autism spectrum disorder across the human life span, and in males and females with the condition, (2) highlight potential neuroimaging (bio)markers that may in the future be used for the stratification of autism spectrum disorder individuals into biologically homogeneous subgroups and (3) inform treatment and intervention strategies.

Keywords: autism spectrum disorder; biomarker; brain anatomy; neurodevelopment; structural neuroimaging.