Insights from perceptual, sensory, and motor functioning in autism and cerebellar primary disturbances: Are there reliable markers for these disorders?

Abstract

The contribution of cerebellar circuitry alterations in the pathophysiology of Autism Spectrum Disorder (ASD) has been widely investigated in the last decades. Yet, experimental studies on neurocognitive markers of ASD have not been attentively compared with similar studies in patients with cerebellar primary disturbances (e.g., malformations, agenesis, degeneration, etc). Addressing this neglected issue could be useful to underline unexpected areas of overlap and/or underestimated differences between these sets of conditions. In fact, ASD and cerebellar primary disturbances (notably, Cerebellar Cognitive Affective Syndrome, CCAS) can share atypical manifestations in perceptual, sensory, and motor functions, but neural subcircuits involved in these anomalies/difficulties could be distinct. Here, we specifically deal with this issue focusing on four paradigmatic neurocognitive functions: visual and biological motion perception, multisensory integration, and high stages of the motor hierarchy. From a research perspective, this represents an essential challenge to more deeply understand neurocognitive markers of ASD and of cerebellar primary disturbances/CCAS. Although we cannot assume definitive conclusions, and beyond phenotypical similarities between ASD and CCAS, clinical and experimental evidence described in this work argues that ASD and CCAS are distinct phenomena. ASD and CCAS seem to be characterized by different pathophysiological mechanisms and mediated by distinct neural nodes. In parallel, from a clinical perspective, this characterization may furnish insights to tackle the distinction between autistic functioning/autistic phenotype (in ASD) and dysmetria of thought/autistic-like phenotype (in CCAS).

Keywords: ASD; Brain; Development; Mirror mechanism; Motor planning; Neuroimaging; Plasticity; Rehabilitation.