Abstract
Most researchers agree that autism spectrum disorders (ASD) comprise a group of developmental conditions whose pathological substratum resides in the brain. Despite the significance of neuropathological research in ASD, relatively few studies have been performed on the subject. The limited number of studies may be accounted, in part, by the scarcity of available tissues in different brain banks. Furthermore, variability within each patient population in regards to pre-agonal/agonal conditions, medications, comorbidity (e.g., seizures), and postmortem interval may all account for dissimilar findings among the limited number of reported studies. Only recently has a clear picture begun to emerge as to the neuropathological underpinnings of ASD. The presence of heterotopias, laminar effacement, and minicolumnopathy suggest that heterochronic divisions of periventricular germinal cells may provide for the asynchronous development of pyramidal cells and interneurons within the cerebral cortex. A similar defect within the rhombic lip may help explain brainstem and cerebellar malformations. Autism spectrum disorders are multifactorial conditions wherein a genetic proclivity and environmental stressors act at particular times during brain development to provide an autistic phenotype.
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Casanova, M. (2015). The Neuropathology of Autism. In: Fatemi, S. (eds) The Molecular Basis of Autism. Contemporary Clinical Neuroscience. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2190-4_8
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