자폐 장애 및 기타 전반적 발달장애 : 신경발달학적 병리 소견

Abstract

Autistic disorder and other PDD are currently viewed as a largely genetically determined neurodevelopmental disorder, although its underlying biological causes remain to be established. In this review, we examine the available neurodevelopmental literature on autistic disorder and discuss the findings that have emerged. Typical neuropathological observations are rather consistent with respect to the limbic system (increased cell packing density and smaller neuronal size), the cerebellum (decreased number of Purkinje cells) and the cerebral cortex ( >50% >50% of the cases showed features of cortical dysgenesis). However, most of the reported studies had to contend with the problem of small sample sizes, the use of quantification techniques, not free of bias and assumptions, and high percentages of autistic subjects with comorbid mental retardation or epilepsy. Furthermore, data from the limbic system and on age-related changes lack replication by independent groups. It is anticipated that future neuropathological studies held great promise, especially as new techniques such as design-based stereology and gene expression are increasingly implemented and combined, larger samples are analysed, and younger subjects free of comorbidities are investigated.