Neuroimaging endophenotypes in autism spectrum disorder

CNS Spectr. 2015 Aug;20(4):412-26. doi: 10.1017/S1092852915000371.


Autism spectrum disorder (ASD) is a neurodevelopmental disorder that has a strong genetic basis, and is heterogeneous in its etiopathogenesis and clinical presentation. Neuroimaging studies, in concert with neuropathological and clinical research, have been instrumental in delineating trajectories of development in children with ASD. Structural neuroimaging has revealed ASD to be a disorder with general and regional brain enlargement, especially in the frontotemporal cortices, while functional neuroimaging studies have highlighted diminished connectivity, especially between frontal-posterior regions. The diverse and specific neuroimaging findings may represent potential neuroendophenotypes, and may offer opportunities to further understand the etiopathogenesis of ASD, predict treatment response, and lead to the development of new therapies.

Keywords: Autism spectrum disorder; DTI; MRI; endophenotypes; neuroimaging.

Publication types

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

MeSH terms

  • Brain / growth & development
  • Brain / physiology*
  • Brain / physiopathology
  • Brain Mapping*
  • Child Development Disorders, Pervasive / genetics
  • Child Development Disorders, Pervasive / physiopathology*
  • Endophenotypes*
  • Humans