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, 20 (4), 412-26

Neuroimaging Endophenotypes in Autism Spectrum Disorder


Neuroimaging Endophenotypes in Autism Spectrum Disorder

Rajneesh Mahajan et al. CNS Spectr.


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.


Figure 1
Figure 1. Genetic and epigenetic factors lead to alteration in brain developmental processes at the cellular and microscopic levels
This affects the global and regional brain structure and function and consequently, the neural circuitry. These alterations result in core and associated behavioral and clinical features of autism spectrum disorder. The blue and red trapezoids represent potential endophenotypes; the red trapezoid can be captured by neuroimaging. Environmental influences may be relevant at all levels.
Figure 2
Figure 2. Three phases of growth pathology in autism
(A) Model of early brain overgrowth in autism that is followed by arrest of growth. Red line represents ASD, while blue line represents age-matched typically developing individuals. In some regions and individuals, the arrest of growth may be followed by degeneration, indicated by the red dashes that slope slightly downward. (B) Sites of regional overgrowth in ASD include frontal and temporal cortices and amygdala (Reproduced from: Brain growth across the life-span in autism: age specific changes in anatomic pathology; Courchesne, Campbell and Solso, Brain Research 1380 (2011)138–145, with permission from Elsevier B.V.)

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