Translating neuroimaging changes to neuro-endophenotypes of autistic spectrum disorder: a narrative review

Abstract

Abstract Background Autism-spectrum disorder is a neurodevelopmental disorder with heterogeneity in etiopathogenesis and clinical presentation. Neuroanatomical and neurophysiological abnormalities may represent neural endophenotypes for autism spectrum disorders which may help identify subgroups of patients seemingly similar in clinical presentation yet different in their pathophysiological underpinnings. Furthermore, a thorough understanding of the pathophysiology of disease can pave the way to effective treatments, prevention, and prognostic predictions. The aim of this review is to identify the predominant neural endophenotypes in autism-spectrum disorder. The evidence was researched at the following electronic databases: Pubmed, PsycINFO, Scopus, Web of Science, and EMBASE. Results Enlarged brain, especially frontotemporal cortices have been consistently reported by structural neuroimaging, whereas functional neuroimaging has revealed frontotemporal dysconnectivity. Conclusions Regrettably, many of these findings have not been consistent. Therefore, translating these findings into neural endophenotype is by far an attempt in its budding stage. The structural and functional neuroimaging changes may represent neural endophenotypes unique to autism-spectrum disorder. Despite inconsistent results, a clinically meaningful finding may require combined efforts of autism-spectrum-disorder researchers focused on different aspects of basic, genetic, neuroimaging, and clinical research.