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广义自闭症表型星座-残疾矩阵范式:自闭症和广义自闭症表型的理论模型。

The broader autism phenotype constellations-disability matrix paradigm: Theoretical model for autism and the broader autism phenotype.

机构信息

Department of Neurology, Vanderbilt University Medical Center, Nashville, TN 37235, USA.

出版信息

Med Hypotheses. 2021 Jan;146:110456. doi: 10.1016/j.mehy.2020.110456. Epub 2020 Dec 18.

Abstract

The prevalence of autism has increased dramatically over the last 60 years, and the cause of this increase is unclear. In this paradigm-shift paper, I propose an explanatory paradigm for the cause of autism and its increased prevalence in the general population. I also discuss how social and historical contexts may have influenced the evolution and manifestation of specific traits in the autism population. These traits expand the characterization of the broader autism phenotype to include a constellation of socially valued traits, termed Broader Autism Phenotype Constellations (BAPCO). The frequency of these traits may have increased due to assortative mating opportunities that occurred alongside social changes in education and occupational opportunities over the last 100 years. I propose that assortative mating can lead to both positive and negative developmental consequences affecting social and language development. I also propose that BAPCO traits, which are not intrinsically disabilities, could interact with co-occurring conditions in a new model called the BAPCO-Disability Matrix Paradigm (BAPCO-DMAP). In this paradigm, autism is located at the intersection of BAPCO traits and at least one co-occurring condition. These proposed models support the need to create a more comprehensive definition of autism that includes constellations of BAPCO traits. The BAPCO-DMAP paves the way to testable predictions of autism prevalence and provides a framework to better understand the foundational traits of autism. Finally, this paradigm radically redefines the broader autism phenotype with characteristics that can inform therapy and child development.

摘要

自闭症的患病率在过去 60 年中急剧上升,其上升的原因尚不清楚。在这篇具有开创性的论文中,我提出了一个自闭症病因及其在普通人群中患病率上升的解释性范式。我还讨论了社会和历史背景如何影响自闭症人群中特定特征的演变和表现。这些特征将更广泛的自闭症表型的特征扩展到包括一系列被称为更广泛自闭症表型丛集(BAPCO)的具有社会价值的特征。由于过去 100 年来教育和职业机会方面的社会变化带来的相配婚姻机会的增加,这些特征的频率可能增加了。我提出,相配婚姻可能导致影响社会和语言发展的积极和消极的发展后果。我还提出,BAPCO 特征本身不是残疾,它们可以与共病条件相互作用,形成一个新的模型,称为 BAPCO-残疾矩阵范式(BAPCO-DMAP)。在这个范式中,自闭症位于 BAPCO 特征和至少一种共病条件的交叉点。这些提出的模型支持需要创建一个更全面的自闭症定义,包括 BAPCO 特征丛集。BAPCO-DMAP 为自闭症患病率的可测试预测铺平了道路,并为更好地理解自闭症的基础特征提供了一个框架。最后,这个范式彻底重新定义了更广泛的自闭症表型,其特征可以为治疗和儿童发展提供信息。

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