A1 Refereed original research article in a scientific journal

Genetics on the neurodiversity spectrum: Genetic, phenotypic and endophenotypic continua in autism and ADHD




AuthorsKoi Polaris

PublisherElsevier Ltd

Publication year2021

JournalStudies in History and Philosophy of Science Part A

Journal name in sourceStudies in History and Philosophy of Science

Volume89

First page 52

Last page62

eISSN1879-2510

DOIhttps://doi.org/10.1016/j.shpsa.2021.07.006

Web address https://www.sciencedirect.com/science/article/pii/S0039368121001072?via%3Dihub

Self-archived copy’s web addresshttps://research.utu.fi/converis/portal/detail/Publication/66894589


Abstract

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.


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