Neuroimaging genetics approaches to identify new biomarkers for the early diagnosis of autism spectrum disorder

Mol Psychiatry. 2023 Dec;28(12):4995-5008. doi: 10.1038/s41380-023-02060-9. Epub 2023 Apr 17.

Abstract

Autism-spectrum disorders (ASDs) are developmental disabilities that manifest in early childhood and are characterized by qualitative abnormalities in social behaviors, communication skills, and restrictive or repetitive behaviors. To explore the neurobiological mechanisms in ASD, extensive research has been done to identify potential diagnostic biomarkers through a neuroimaging genetics approach. Neuroimaging genetics helps to identify ASD-risk genes that contribute to structural and functional variations in brain circuitry and validate biological changes by elucidating the mechanisms and pathways that confer genetic risk. Integrating artificial intelligence models with neuroimaging data lays the groundwork for accurate diagnosis and facilitates the identification of early diagnostic biomarkers for ASD. This review discusses the significance of neuroimaging genetics approaches to gaining a better understanding of the perturbed neurochemical system and molecular pathways in ASD and how these approaches can detect structural, functional, and metabolic changes and lead to the discovery of novel biomarkers for the early diagnosis of ASD.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Autism Spectrum Disorder* / diagnosis
  • Autism Spectrum Disorder* / genetics
  • Biomarkers*
  • Brain* / diagnostic imaging
  • Brain* / metabolism
  • Child
  • Early Diagnosis*
  • Humans
  • Neuroimaging* / methods

Substances

  • Biomarkers