Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Genetics on the neurodiversity spectrum: Genetic, phenotypic and endophenotypic continua in autism and ADHD
Studies in History and Philosophy of Science Part A ( IF 1 ) Pub Date : 2021-08-06 , DOI: 10.1016/j.shpsa.2021.07.006
Polaris Koi 1
Affiliation  

How we ought to diagnose, categorise and respond to spectrum disabilities such as autism and Attention Deficit/Hyperactivity Disorder (ADHD) is a topic of lively debate. The heterogeneity associated with ADHD and autism is described as falling on various continua of behavioural, neural, and genetic difference. These continua are varyingly described either as extending into the general population, or as being continua within a given disorder demarcation. Moreover, the interrelationships of these continua are likewise often vague and subject to diverse interpretations.

In this paper, I explore geneticists' and self-advocates’ perspectives concerning autism and ADHD as continua. These diagnoses are overwhelmingly analysed as falling on a continuum or continua of underlying traits, which supports the notion of “the neurodiversity spectrum”, i.e., a broader swath of human neural and behavioural diversity on which some concentrations of different functioning are diagnosed. I offer a taxonomy of conceptions of the genetic, phenotypic, and endophenotypic dimensionality within and beyond these diagnostic categories, and suggest that the spectrum of neurodiversity is characteristically endophenotypic.



中文翻译:

神经多样性谱的遗传学:自闭症和多动症的遗传、表型和内表型连续性

我们应该如何诊断、分类和应对自闭症和注意力缺陷/多动障碍 (ADHD) 等谱系障碍是一个激烈争论的话题。与多动症和自闭症相关的异质性被描述为行为、神经和遗传差异的各种连续性。这些连续体被不同地描述为延伸到一般人群中,或者在给定的障碍分界内是连续体。此外,这些连续体的相互关系同样常常是模糊的,并且受到不同的解释。

在本文中,我探讨了遗传学家和自我拥护者对自闭症和多动症作为连续体的看法。这些诊断被压倒性地分析为落在潜在特征的连续统一体或连续统一体上,这支持“神经多样性谱”的概念,即更广泛的人类神经和行为多样性,其中诊断出不同功能的一些浓度。我对这些诊断类别内外的遗传、表型和内表型维度的概念进行了分类,并建议神经多样性的范围具有特征性的内表型。

更新日期:2021-08-07
down
wechat
bug