Alternatives to Gold Standard Diagnostic Tools for Distinguishing “Natural Kinds” on the Autism Spectrum
Bibliographic Data
| ID | 15518245 |
|---|---|
| Authors | Anne Philippe (0000-0002-5331-5087, Institut des Maladies Génétiques Imagine, corresponding author) |
| Year | 2022 |
| Volume | 13 |
| Pages | 862410-862410 |
| Publication date | 2022-06-06 |
| Open Access | Yes |
| Type | ARTICLE |
| Venue | Frontiers in Psychiatry (JOURNAL) |
| Journal identifiers | ISSN: 1664-0640 • E-ISSN: 1664-0640 |
| Publisher | Frontiers Media (PUBLISHER • CH) |
| DOI | 10.3389/fpsyt.2022.862410 |
| PMID | 35747097 |
| OpenAlex | W4281862705 |
| Language | EN |
| Citations received | 1 |
| References cited | 44 |
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 pathological demand avoidance and Wing's Asperger's syndrome with Asperger's autistic psychopathy 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
Autism · Autism spectrum disorder · Biology · Developmental psychopathology · Psychiatry · Psychopathology · Autism Spectrum Disorder Research · Clinical Psychology · Genetics and Neurodevelopmental Disorders · Neuroscience · Obsessive-Compulsive Spectrum Disorders · Psychology · Genetics
| Citations per year | 0.33 |
|---|---|
| Citation span | 2023 - 2023 (1) |
| Highly cited | No |