Cerebellar Abnormalities: A Component of Autism Pathophysiology

TL;DR

This paper explores how abnormalities in the cerebellum may contribute to the development of autism spectrum disorder, highlighting potential new therapeutic targets.

Contribution

The paper introduces the cerebellum as a key player in autism pathophysiology, linking its dysfunction to core symptoms.

Findings

Cerebellar circuitry alterations in ASD affect brain interconnections and development.

Changes in the cerebellum may impact synaptic pruning and immune cell function in ASD.

Altered cerebellar signaling pathways could contribute to ASD-related behavioral outcomes.

Abstract

Background and Objectives: 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, although the cerebellum was particularly implicated in motor control, it was 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, as well as social and behavioral outcomes associated with ASD. Methods: We reviewed the potential role of the cerebellum in ASD, particularly how its dysfunction during development or its early postnatal injury may impact on the maturation of other connected circuits and play a role in the development of core ASD symptoms. Results: Based on the literature, we addressed cerebellar changes that may alter synaptic pruning, immune cells’ function, neurotransmitters, blood–brain barrier permeability, and potential signaling pathways involved in ASD, and how these changes may interplay to contribute to ASD pathophysiology. Conclusions: Further research is needed to understand these interactions that may provide novel therapeutic options specifically targeted at the cerebellum.

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