Characterization of the Pathological and Biochemical Markers that Correlate to the Clinical Features of Autism
Annual rept. 22 Sep 2008-21 Sep 2009
RESEARCH FOUNDATION FOR MENTAL HYGIENE INC STATEN ISLAND NY INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES
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Autism is characterized by a broad spectrum of clinical manifestations including qualitative impairments in social interactions and communication, and repetitive and stereotyped patterns of behavior. The aim of this study was to detect the patterns of focal qualitative developmental defects and to identify brain regions prone to developmental alterations. Formalin fixed brain hemispheres of 13 autistic 4 - 60 years of age and 14 age matched control subjects were embedded in celloidin, cut into 200 micrometer-thick coronal sections which were stained with cresyl violet and used for neuropathological evaluation. Thickening of the subependymal germinal matrix in two brains and subependymal nodular dysplasia in one of them is an indication of active neurogenesis in two autistic children. Cortical, subcortical, periventricular, hippocampal and cerebellar heterotopias detected in four brains 31 reflect abnormal neuronal migration. Cerebellar floculonodular dysplasia detected in six subjects 46 and hypoplasia in one case indicates local failure of cerebellar development in 54 of autistic subjects. The broad spectrum of focal qualitative neuropathological developmental changes found in 12 of 13 examined brains of autistic 92 and one control subject reflects a multiregional dysregulation of neurogenesis, neuronal migration and maturation and contributes to the heterogeneity of the clinical phenotype.
- Anatomy and Physiology
- Medicine and Medical Research