Blake Jerome, Hoyme H Eugene, Crotwell Patricia L
Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls, USA.
S D Med. 2013;Spec no:58-65.
Autism spectrum disorders (ASD) represent a common spectrum of developmental disabilities, sharing deficits in social interactions, communication and restricted interests or repetitive behaviors with difficult transitions. In this article, we review the history of the identification and classification of autism and the origin of the now widely-debunked autism/vaccine hypothesis. The differences between syndromal (complex) and non-syndromal (essential) autism are described and illustrated with case descriptions where appropriate. Finally, the evidence that autism is fundamentally a genetic disease is discussed, including family studies, the role of DNA copy number variation and known single gene mutations.
自闭症谱系障碍（ASD）是一种常见的发育障碍谱系，在社交互动、沟通方面存在缺陷，伴有兴趣受限或重复行为，且过渡困难。在本文中，我们回顾了自闭症的识别与分类历史以及如今已被广泛证伪的自闭症/疫苗假说的起源。文中描述了综合征型（复杂性）自闭症和非综合征型（原发性）自闭症之间的差异，并在适当之处用病例描述加以说明。最后，我们讨论了自闭症从根本上说是一种遗传性疾病的证据，包括家族研究、DNA拷贝数变异的作用以及已知的单基因突变。
