Cerebellar Abnormalities: A Component of Autism Pathophysiology

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Abstract

Autism spectrum disorder (ASD) is a prevalent and largely idiopathic developmental disorder with relatively widespread etiology. Currently there are no validated diagnostic or screening biomarkers for ASD, besides addressing the associated comorbidities. ASD is primarily diagnosed based on behavioral motor and cognitive characteristics. Until recently, the cerebellum had been particularly implicated in motor control, and under-researched for its potential role in the development of ASD. However, cerebellar circuitry is altered in ASD, impacting its brain interconnections, affecting brain development, and social and behavioral outcomes associated with ASD. We review the potential role of the cerebellum in ASD, how its dysfunction during development or its early postnatal injury may impact the maturation of other connected circuits, and play a role in the development of core ASD symptoms. We address cerebellar changes that may alter synaptic pruning, immune cells’ function, neurotransmitters, blood brain barrier permeability, and potential signaling pathways involved in ASD and how all these changes interplay may contribute to ASD pathophysiology. Understanding of these interactions, may provide novel therapeutic options specifically targeted to the cerebellum.

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