Navon Daniel, Eyal Gil
AJS. 2016 Mar;121(5):1416-71. doi: 10.1086/684201.
This article builds on Hacking's framework of "dynamic nominalism" to show how knowledge about biological etiology can interact with the "kinds of people" delineated by diagnostic categories in ways that "loop" or modify both over time. The authors use historical materials to show how "geneticization" played a crucial role in binding together autism as a biosocial community and how evidence from genetics research later made an important contribution to the diagnostic expansion of autism. In the second part of the article, the authors draw on quantitative and qualitative analyses of autism rates over time in several rare conditions that are delineated strictly according to genomic mutations in order to demonstrate that these changes in diagnostic practice helped to both increase autism's prevalence and create its enormous genetic heterogeneity. Thus, a looping process that began with geneticization and involved the social effects of genetics research itself transformed the autism population and its genetic makeup.
本文基于哈金的“动态唯名论”框架，展示了关于生物病因学的知识如何与诊断类别所界定的“人群类型”相互作用，这种相互作用方式会随着时间推移而“循环”或改变两者。作者利用历史资料展示了“基因化”如何在将自闭症作为一个生物社会群体凝聚在一起的过程中发挥关键作用，以及遗传学研究的证据后来如何对自闭症的诊断扩展做出重要贡献。在文章的第二部分，作者对几种严格根据基因突变界定的罕见病症中自闭症发病率随时间变化进行了定量和定性分析，以证明诊断实践中的这些变化既有助于提高自闭症的患病率，又造成了其巨大的基因异质性。因此，一个始于基因化并涉及遗传学研究本身社会效应的循环过程改变了自闭症群体及其基因构成。
