{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T15:06:49Z","timestamp":1764688009320,"version":"3.41.2"},"reference-count":54,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,6,6]],"date-time":"2022-06-06T00:00:00Z","timestamp":1654473600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Psychiatry"],"abstract":"<jats:p>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., \u201ca psychopathological natural kind\u201d. 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 <jats:italic>pathological demand avoidance<\/jats:italic> and Wing's <jats:italic>Asperger's syndrome<\/jats:italic> with Asperger's <jats:italic>autistic psychopathy<\/jats:italic> 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 \u201cdisease individuality\u201d of ASD due to a rare mutation.<\/jats:p>","DOI":"10.3389\/fpsyt.2022.862410","type":"journal-article","created":{"date-parts":[[2022,6,6]],"date-time":"2022-06-06T12:43:40Z","timestamp":1654519420000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":6,"title":["Alternatives to Gold Standard Diagnostic Tools for Distinguishing \u201cNatural Kinds\u201d on the Autism Spectrum"],"prefix":"10.3389","volume":"13","author":[{"given":"Anne","family":"Philippe","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,6,6]]},"reference":[{"volume-title":"Diagnostic and Statistical Manual of Mental Disorders","year":"2013","key":"B1"},{"key":"B2","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.copsyc.2018.07.004","article-title":"The state of research on the genetics of autism spectrum disorder: methodological, clinical and conceptual progress","volume":"27","author":"Arnett","year":"2019","journal-title":"Curr Opin Psychol."},{"key":"B3","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1159\/000083539","article-title":"Defining the phenotype in human genetic studies: forward genetics and reverse phenotyping","volume":"58","author":"Schulze","year":"2004","journal-title":"Hum Hered."},{"key":"B4","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1002\/wps.20240","article-title":"Psychiatric disorders: natural kinds made by the world or practical kinds made by us?","volume":"14","author":"Zachar","year":"2015","journal-title":"World Psychiatry."},{"key":"B5","doi-asserted-by":"publisher","first-page":"380","DOI":"10.1038\/ng.2899","article-title":"A SWI\/SNF-related autism syndrome caused by de novo mutations in ADNP","volume":"46","author":"Helsmoortel","year":"2014","journal-title":"Nat Genet."},{"key":"B6","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1007\/s00439-020-02115-9","article-title":"De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth","volume":"139","author":"An","year":"2020","journal-title":"Hum Genet."},{"key":"B7","doi-asserted-by":"publisher","first-page":"933","DOI":"10.1212\/WNL.0000000000009486","article-title":"Abnormal cerebellar foliation in EBF3 mutation","volume":"94","author":"D'Arrigo","year":"2020","journal-title":"Neurology."},{"key":"B8","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1016\/j.pediatrneurol.2020.06.011","article-title":"Syndromic autism revisited: review of the literature and lessons learned","volume":"114","author":"Ziats","year":"2021","journal-title":"Pediatr Neurol."},{"key":"B9","first-page":"217","article-title":"Autistic disturbances of affective contact","volume":"2","author":"Kanner","year":"1943","journal-title":"Nervous Child."},{"key":"B10","first-page":"176","article-title":"Infantile Autism: A Clinical and Phenomenological-Anthropological Investigation Taking Language as the Guide","author":"Gerhard","year":"1970"},{"key":"B11","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1017\/CBO9780511526770","article-title":"Translation of Asperger's paper \u201cAutistic psychopathy\u201d in children","volume-title":"Autism and Asperger Syndrome","author":"Frith","year":"1991"},{"key":"B12","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1007\/BF00571671","article-title":"The first account of the syndrome Asperger described? 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