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Alternatives to Gold Standard Diagnostic Tools for Distinguishing "Natural Kinds" on the Autism Spectrum. | LitMetric

Alternatives to Gold Standard Diagnostic Tools for Distinguishing "Natural Kinds" on the Autism Spectrum.

Front Psychiatry

Developmental Brain Disorders Laboratory, INSERM UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.

Published: June 2022

AI Article Synopsis

Article Abstract

Next-generation sequencing techniques have accelerated the discovery of rare mutations responsible for autism spectrum disorder (ASD) in genes involved in a large number of physiological processes, including the control of gene expression, chromatin remodeling, signaling pathways, synaptic scaffolding, neurotransmitter receptors, and lipid metabolism. Genetic diagnosis provides subjects with an explanation of the cause of their disorder. However, it does not, or at least does not yet, shed light on the psychopathological phenomena specific to the individual. It could be hypothesized that each physiological impact of a mutation corresponds to a specific psychopathological phenomenon of ASD, i.e., "a psychopathological natural kind". We discuss here the difficulties identifying this specificity of underlying psychopathology in individuals with ASD due to a rare mutation with a major effect. A comparison of Newson's and Wing's with Asperger's highlights different ways of approaching psychopathological descriptions and diagnosis, by focusing on either common or unusual features. Such a comparison calls into question the principles of clinical research recommended by Falret for characterizing "disease individuality" of ASD due to a rare mutation.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9210951PMC
http://dx.doi.org/10.3389/fpsyt.2022.862410DOI Listing

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