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.

Highlights

  • Autism Spectrum Disorder (ASD) and Attention Deficit/Hyperactivity Disorder (ADHD) are behavioural disabilities with a genetic and neural aetiology, classified as neurodevelopmental disorders

  • There is heterogeneity in how these disabilities are placed on those continua: for example, while some suggest a continuous measure of ADHD or autism that extends into the subclinical population, others suggest that ADHD or autism is located in the ‘far end’ of an associated continuum only

  • In the case of Autism Spectrum Disorder, the current terminology evokes continuity in both the name – the spectrum metaphor evoking a gradient of colours – and description; as for ADHD, continuity is a feature of the diagnostic criteria which are explicitly of a threshold character, specifying a number and duration of symptoms a patient must present with in order to be diagnosed (DSM-V, ICD-11)

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Summary

Introduction

Autism Spectrum Disorder (ASD) and Attention Deficit/Hyperactivity Disorder (ADHD) are behavioural disabilities with a genetic and neural aetiology, classified as neurodevelopmental disorders. There is heterogeneity in how these disabilities are placed on those continua: for example, while some suggest a continuous measure of ADHD or autism that extends into the subclinical population, others suggest that ADHD or autism is located in the ‘far end’ of an associated continuum only In light of these considerations, and of the genetic, neural, and behavioural overlap of the ADHD and autism categories, a further question arises: disabilities classified as neurodevelopmental are often described as being on “the spectrum”, i.e., on one continuous spectrum of behavioural, neural, and genetic variance – or of “neurodiversity”, as the term adopted by various advocacy groups and increasingly, by genetics researchers. Such a conceptualization lends support to pragmatism rather than reductionism about ADHD, ASD and connected diagnoses

ADHD and autism: stories of expansion
Genetics research and neurodiversity approaches
The ASD and ADHD phenotypes as continua
Genetic continua for ASD and ADHD
Endophenotypes on the spectrum
ADHD and autism endophenotypes
A network of many colours or a continuous spectrum?
The neurodiversity spectrum as a Complex Spectrum
Conclusion
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