Cerebella hypoplasia and saccadic adaptation in autism spectrum disorder

There is significant individual variation in the types and severity of symptoms in ASD, and it is almost certain that there are multiple neurodevelopmental pathways to these varied clinical presentations.

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In a subset of people with ASD, midline posterior cerebellum is hypoplastic and Purkinje cell numbers are reduced compared to typically developing (TD) people. Degeneration or damage (or alteration via experimental intervention) of the posterior vermis significantly deteriorates visual orienting behaviors and adaptive plasticity in both human and non-human primates. Thus, differences in cerebellar vermis structure in ASD could critically impact visuo-sensori-motor development in early infancy, which may in turn manifest as the visual orienting, communication and social interaction differences often seen in this population.

 

This project aims to distinguish a subpopulation of children with vermal hypoplasia, to establish whether this group manifests more severe deficits in visual orienting and in adaptation to persistent visual errors, and to establish whether this putative subphenotype of ASD is associated with a specific and distinct clinical symptom profile. It makes use of eye-tracking, EEG, and structural MRI.

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This project is a collaboration with Dr. Edward Freedman from the University of Rochester.

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For more information, contact Ana Francisco at ana.alvesfrancisco@einstein.yu.edu.