Cerebellar Abnormalities: A Component of Autism Pathophysiology

<i>Background and Objectives</i>: 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. <i>Methods</i>: 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. <i>Results</i>: 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. <i>Conclusions</i>: Further research is needed to understand these interactions that may provide novel therapeutic options specifically targeted at the cerebellum.

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Publication Details

Journal
Medicina
Published
2026-02-25
DOI
https://doi.org/10.3390/medicina62030435
Primary Topic
Autism Spectrum Disorder Research
Type
article
Field-Weighted Citation Impact
0.00

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article

Cerebellar Abnormalities: A Component of Autism Pathophysiology

Idil Tuncali, Rekha Jagadapillai, Naveen Nagarajan, Evelyne Gozal et al.
Medicina
Autism Spectrum Disorder Research
article

Cerebellar Abnormalities: A Component of Autism Pathophysiology

Idil Tuncali, Rekha Jagadapillai, Naveen Nagarajan, Evelyne Gozal, Gregory Barnes
article en

Abstract

<i>Background and Objectives</i>: 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. <i>Methods</i>: 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. <i>Results</i>: 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. <i>Conclusions</i>: Further research is needed to understand these interactions that may provide novel therapeutic options specifically targeted at the cerebellum.

MedicinaVol. 62(3)
University of Louisville (US), Rice Institute (US), Cardiovascular Innovation Institute (US)
U.S. Department of Defense
Good health and well-being
Openalex Percentile: Top 45%
Autism Spectrum Disorder Research
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