What is autism? Identity in jeopardy and the collaborative way ahead

Alvares G. A. Bebbington K. Cleary D. Evans K. Glasson E. J. Maybery M. T. Pillar S. Uljarević M. Varcin K. Wray J. Whitehouse A. J. (2020). The misnomer of “high functioning autism”: Intelligence is an imprecise predictor of functional abilities at diagnosis. Autism, 24(1), 221–232. https://doi.org/10.1177/1362361319852831

Asperger H. (1991). “Autistic psychopathy” in childhood (p. 92). Cambridge University Press. https://doi.org/10.1017/CBO9780511526770.002

Astle D. E. Holmes J. Kievit R. Gathercole S. E. (2022). Annual research review: The transdiagnostic revolution in neurodevelopmental disorders. Journal of Child Psychology and Psychiatry, 63(4), 397–417. https://doi.org/10.1111/jcpp.13481

Atherton G. Morimoto Y. Nakashima S. Cross L. (2023). Does the study of culture enrich our understanding of autism? A cross-cultural exploration of life on the spectrum in Japan and the West. Journal of Cross-Cultural Psychology, 54(5), 610–634. https://doi.org/10.1177/00220221231169945

Autism Research Centre. (2024). What the Spectrum 10K consultation taught us. https://www.autismresearchcentre.com/what-the-spectrum-10k-consultation-taught-us/

Autistic Self Advocacy Network. (2022, February 14). Open letter to the Lancet Commission on the future of care and clinical research in autism. https://autisticadvocacy.org/2022/02/open-letter-to-the-lancet-commission-on-the-future-of-care-and-clinical-research-in-autism/

Blomkvist A. Marks D. F. (2023). Defining and “diagnosing” aphantasia: Condition or individual difference? Cortex, 169, 220–234. https://doi.org/10.1016/j.cortex.2023.09.004

Botha M. (2021). Academic, activist, or advocate? Angry, entangled, and emerging: A critical reflection on autism knowledge production. Frontiers in Psychology, 12, Article 727542. https://www.frontiersin.org/articles/10.3389/fpsyg.2021.727542

Botha M. Dibb B. Frost D. M. (2022). “Autism is me”: An investigation of how autistic individuals make sense of autism and stigma. Disability & Society, 37(3), 427–453. https://doi.org/10.1080/09687599.2020.1822782

Chamak B. Bonniau B. Jaunay E. Cohen D. (2008). What can we learn about autism from autistic persons? Psychotherapy and Psychosomatics, 77(5), 271–279. https://doi.org/10.1159/000140086

Chan A. J. S. Engchuan W. Reuter M. S. Wang Z. Thiruvahindrapuram B. Trost B. Nalpathamkalam T. Negrijn C. Lamoureux S. Pellecchia G. Patel R. V. Sung W. W. L. MacDonald J. R. Howe J. L. Vorstman J. Sondheimer N. Takahashi N. Miles J. H. Anagnostou E. . . .Scherer S. W. (2022). Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder. Nature Communications, 13(1), 6463. https://doi.org/10.1038/s41467-022-34112-z

Chapman R. (2020). The reality of autism: On the metaphysics of disorder and diversity. Philosophical Psychology, 33(6), 799–819. https://doi.org/10.1080/09515089.2020.1751103

Chapman R. Carel H. (2022). Neurodiversity, epistemic injustice, and the good human life. Journal of Social Philosophy, 53(4), 614–631. https://doi.org/10.1111/josp.12456

Chen Y.-J. Duku E. Szatmari P. Salt M. Smith I. Richard A. Zwaigenbaum L. Vaillancourt T. Zaidman-Zait A. Bennett T. Elsabbagh M. Kerns C. Georgiades S . (2024). Trajectories of adaptive functioning from early childhood to adolescence in autism: Identifying turning points and key correlates of chronogeneity. JCPP Advances, 4(2), Article e12212. https://doi.org/10.1002/jcv2.12212

Cleary M. West S. Kornhaber R. Hungerford C. (2023). Autism, discrimination and masking: Disrupting a recipe for trauma. Issues in Mental Health Nursing, 44(9), 799–808. https://doi.org/10.1080/01612840.2023.2239916

Constantino J. N. (2013). Social responsiveness scale. In Volkmar F. R. (Ed.), Encyclopedia of autism spectrum disorders (pp. 2919–2929). Springer. https://doi.org/10.1007/978-1-4419-1698-3_296

Constantino J. N. (2021). Response to “a radical change in our autism research strategy is needed: Back to prototypes” by Mottron et al. (2021). Autism Research, 14(10), 2221–2223. https://doi.org/10.1002/aur.2529

Cooper R. Cooper K. Russell A. J. Smith L. G. E. (2021). “I’m proud to be a little bit different”: The effects of autistic individuals’ perceptions of autism and autism social identity on their collective self-esteem. Journal of Autism and Developmental Disorders, 51(2), 704–714. https://doi.org/10.1007/s10803-020-04575-4

Cortese S. Solmi M. Michelini G. Bellato A. Blanner C. Canozzi A. Eudave L. Farhat L. C. Højlund M. Köhler-Forsberg O. Leffa D. T. Rohde C. de Pablo G. S. Vita G. Wesselhoeft R. Martin J. Baumeister S. Bozhilova N. S. Carlisi C. O. . . .Correll C. U. (2023). Candidate diagnostic biomarkers for neurodevelopmental disorders in children and adolescents: A systematic review. World Psychiatry: Official Journal of the World Psychiatric Association (WPA), 22(1), 129–149. https://doi.org/10.1002/wps.21037

Crompton C. J. Hallett S. Ropar D. Flynn E. Fletcher-Watson S. (2020). “I never realised everybody felt as happy as I do when I am around autistic people”: A thematic analysis of autistic adults’ relationships with autistic and neurotypical friends and family. Autism, 24(6), 1438–1448. https://doi.org/10.1177/1362361320908976

Dwyer P. (2022). The neurodiversity approach(es): What are they and what do they mean for researchers? Human Development, 66(2), 73–92. https://doi.org/10.1159/000523723

Eisenberg L. (1956). The autistic child in adolescence. American Journal of Psychiatry, 112(8), 607–612. https://doi.org/10.1176/ajp.112.8.607

English M. C. W. Gignac G. E. Visser T. A. W. Whitehouse A. J. O. Enns J. T. Maybery M. T. (2021). The Comprehensive Autistic Trait Inventory (CATI): Development and validation of a new measure of autistic traits in the general population. Molecular Autism, 12(1), 37. https://doi.org/10.1186/s13229-021-00445-7

Fiksinski A. M. Hoftman G. D. Vorstman J. A. S. Bearden C. E. (2023). A genetics-first approach to understanding autism and schizophrenia spectrum disorders: The 22q11.2 deletion syndrome. Molecular Psychiatry, 28(1), 341–353. https://doi.org/10.1038/s41380-022-01783-5

Fletcher-Watson S. (2024). What’s in a name? The costs and benefits of a formal autism diagnosis. Autism, 28(2), 257–262. https://doi.org/10.1177/13623613231213300

Fletcher-Watson S. Adams J. Brook K. Charman T. Crane L. Cusack J. Leekam S. Milton D. Parr J. R. Pellicano E. (2019). Making the future together: Shaping autism research through meaningful participation. Autism, 23(4), 943–953. https://doi.org/10.1177/1362361318786721

Frith U. (1991). Asperger and his syndrome. In Frith U. (Ed.), Autism and Asperger syndrome (pp. 1–36). Cambridge University Press. https://doi.org/10.1017/CBO9780511526770.001

Frith U. (2012). Why we need cognitive explanations of autism. Quarterly Journal of Experimental Psychology, 65(11), 2073–2092. https://doi.org/10.1080/17470218.2012.697178

Fuentes J. Hervás A. Howlin P. , & (ESCAP ASD Working Party). (2021). ESCAP practice guidance for autism: A summary of evidence-based recommendations for diagnosis and treatment. European Child & Adolescent Psychiatry, 30(6), 961–984. https://doi.org/10.1007/s00787-020-01587-4

Fusar-Poli L. Brondino N. Politi P. Aguglia E. (2022). Missed diagnoses and misdiagnoses of adults with autism spectrum disorder. European Archives of Psychiatry and Clinical Neuroscience, 272(2), 187–198. https://doi.org/10.1007/s00406-020-01189-w

Gernsbacher M. A. Stevenson J. L. Dern S. (2017). Specificity, contexts, and reference groups matter when assessing autistic traits. PLOS ONE, 12(2), Article e0171931. https://doi.org/10.1371/journal.pone.0171931

Green J. (2022). Autism as emergent and transactional. Frontiers in Psychiatry, 13, Article 988755. https://www.frontiersin.org/journals/psychiatry/articles/10.3389/fpsyt.2022.988755

Happé F. Frith U. (2021). Dimensional or categorical approaches to autism? Both are needed. A reply to Nick Chown and Julia Leatherland. Journal of Autism and Developmental Disorders, 51(2), 752–753. https://doi.org/10.1007/s10803-020-04728-5

Heraty S. Lautarescu A. Belton D. Boyle A. Cirrincione P. Doherty M. Douglas S. Plas J. R. D. Van Den Bosch K. Violland P. Tercon J. Ruigrok A. Murphy D. G. M. Bourgeron T. Chatham C. Loth E. Oakley B. McAlonan G. M. Charman T. . . .Jones E. J. H. (2023). Bridge-building between communities: Imagining the future of biomedical autism research. Cell, 186(18), 3747–3752. https://doi.org/10.1016/j.cell.2023.08.004

Hobson H. Petty S. (2021). Moving forwards not backwards: Heterogeneity in autism spectrum disorders. Molecular Psychiatry, 26(12), 7100–7101. https://doi.org/10.1038/s41380-021-01226-7

John R. P. Knott F. J. Harvey K. N. (2018). Myths about autism: An exploratory study using focus groups. Autism, 22(7), 845–854. https://doi.org/10.1177/1362361317714990

Jones R. S. P. Huws J. C. Beck G. (2013). “I’m not the only person out there”: Insider and outsider understandings of autism. International Journal of Developmental Disabilities, 59(2), 134–144. https://doi.org/10.1179/2047387712Y.0000000007

Kanner L. (1943). Autistic disturbances of affective contact. Nervous Child, 2, 217–250.

Kendler K. S. (2009). An historical framework for psychiatric nosology. Psychological Medicine 39(12), 1935–1941. https://doi.org/10.1017/S0033291709005753

Kendler K. S. Zachar P. Craver C. (2011). What kinds of things are psychiatric disorders? Psychological Medicine, 41(6), 1143–1150. https://doi.org/10.1017/S0033291710001844

Kentrou V. Livingston L. A. Grove R. Hoekstra R. A. Begeer S. (2024). Perceived misdiagnosis of psychiatric conditions in autistic adults. eClinicalMedicine, 71. https://doi.org/10.1016/j.eclinm.2024.102586

Keysar B. Lin S. Barr D. J. (2003). Limits on theory of mind use in adults. Cognition, 89(1), 25–41. https://doi.org/10.1016/S0010-0277(03)00064-7

Khudiakova V. Alexandrovsky M. Ai W. Lai M.-C. (2025). What we know and do not know about camouflaging, impression management, and mental health and wellbeing in autistic people. Autism Research, 18(2), 273–280. https://doi.org/10.1002/aur.3299

Kim S. H. (2020). Decomposing heterogeneity in autism spectrum disorder through neurosubtyping. Biological Psychiatry, 87(12), e37–e38. https://doi.org/10.1016/j.biopsych.2020.04.019

Lai M.-C. (2023). Mental health challenges faced by autistic people. Nature Human Behaviour, 7(10), 1620–1637. https://doi.org/10.1038/s41562-023-01718-2

Leask J. Leask A. Silove N. (2005). Evidence for autism in folklore? Archives of Disease in Childhood, 90(3), 271–271. https://doi.org/10.1136/adc.2003.044958

Litman A. Sauerwald N. Green Snyder L. Foss-Feig J. Park C. Y. Hao Y. Dinstein I. Theesfeld C. L. Troyanskaya O. G. (2025). Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs. Nature Genetics, 57(7), 1611–1619. https://doi.org/10.1038/s41588-025-02224-z

Lombardo M. V. (2021). Prototyping as subtyping strategy for studying heterogeneity in autism. Autism Research, 14(10), 2224–2227. https://doi.org/10.1002/aur.2535

Lombardo M. V. Lai M.-C. Baron-Cohen S. (2019). Big data approaches to decomposing heterogeneity across the autism spectrum. Molecular Psychiatry, 24(10), 1435–1450. https://doi.org/10.1038/s41380-018-0321-0

Lord C. Charman T. Havdahl A. Carbone P. Anagnostou E. Boyd B. Carr T. de Vries P. J. Dissanayake C. Divan G. Freitag C. M. Gotelli M. M. Kasari C. Knapp M. Mundy P. Plank A. Scahill L. Servili C. Shattuck P. . . .McCauley J. B. (2022). The Lancet Commission on the future of care and clinical research in autism. Lancet, 399(10321), 271–334. https://doi.org/10.1016/S0140-6736(21)01541-5

Mandelli V. Severino I. Eyler L. Pierce K. Courchesne E. Lombardo M. V. (2024). A 3D approach to understanding heterogeneity in early developing autisms. Molecular Autism, 15(1), 41. https://doi.org/10.1186/s13229-024-00613-5

Milton D. E. M. (2012). On the ontological status of autism: The “double empathy problem.” Disability & Society, 27(6), 883–887. https://doi.org/10.1080/09687599.2012.710008

Mottron L. (2021). A radical change in our autism research strategy is needed: Back to prototypes. Autism Research, 14(10), 2213–2220. https://doi.org/10.1002/aur.2494

Mottron L. Gagnon D. (2023). Prototypical autism: New diagnostic criteria and asymmetrical bifurcation model. Acta Psychologica, 237, 103938. https://doi.org/10.1016/j.actpsy.2023.103938

Nicolaidis C. Raymaker D. Kapp S. K. Baggs A. Ashkenazy E. McDonald K. Weiner M. Maslak J. Hunter M. Joyce A. (2019). The AASPIRE practice-based guidelines for the inclusion of autistic adults in research as co-researchers and study participants. Autism, 23(8), 2007–2019. https://doi.org/10.1177/1362361319830523

Nicolaidis C. Scharer M. Raymaker D. M. Vera J. Edwards T. Moura I. Baker-Ericzén M. Maslak J. Yang L.-Q. Kripke-Ludwig R. Kapp S. K. Joyce A. Wallington A. , & the Academic Autism Spectrum Partnership in Research and Education (AASPIRE) Outcomes Project Team. (2025). Consensus on high-priority outcomes to be used in the evaluation of services for autistic adults: Results from a “CBPR-Nested Delphi Process.” Autism, 29(8), 1959–1972. https://doi.org/10.1177/13623613251322082

O’Connor K. Kirk I. (2008). Brief report: Atypical social cognition and social behaviours in autism spectrum disorder: A different way of processing rather than an impairment. Journal of Autism and Developmental Disorders, 38(10), 1989–1997. https://doi.org/10.1007/s10803-008-0559-5

Parellada M. Andreu-Bernabeu Á. Burdeus M. San José Cáceres A. Urbiola E. Carpenter L. L. Kraguljac N. V. McDonald W. M. Nemeroff C. B. Rodriguez C. I. Widge A. S. State M. W. Sanders S. J. (2023). In search of biomarkers to guide interventions in autism spectrum disorder: A systematic review. American Journal of Psychiatry, 180(1), 23–40. https://doi.org/10.1176/appi.ajp.21100992

Pearson A. Woods R. Morgan H. Botha M. (2021). Creating truly radical change in autism research: A response to Frith and Mottron. Autism Research, 14(10), 2243–2244. https://doi.org/10.1002/aur.2605

Pellicano E. den Houting J. (2022). Annual research review: Shifting from “normal science” to neurodiversity in autism science. Journal of Child Psychology and Psychiatry, 63(4), 381–396. https://doi.org/10.1111/jcpp.13534

Poulsen R. Brownlow C. Lawson W. Pellicano E. (2022). Meaningful research for autistic people? Ask autistics!. Autism, 26(1), 3–5. https://doi.org/10.1177/13623613211064421

Pyne J. (2020). “Building a Person”: Legal and clinical personhood for autistic and trans children in Ontario. Canadian Journal of Law and Society / La Revue Canadienne Droit et Société, 35(2), 341–365. https://doi.org/10.1017/cls.2020.8

Quirici M. (2015). Geniuses without imagination: Discourses of autism, ability, and achievement. Journal of Literary & Cultural Disability Studies, 9(1), 71–88. https://doi.org/10.3828/jlcds.2015.5

Rabot J. Rødgaard E.-M. Joober R. Dumas G. Bzdok D. Bernhardt B. Jacquemont S. Mottron L. (2023). Genesis, modelling and methodological remedies to autism heterogeneity. Neuroscience & Biobehavioral Reviews, 150, 105201. https://doi.org/10.1016/j.neubiorev.2023.105201

Ratto A. B. Bascom J. daVanport S. Strang J. F. Anthony L. G. Verbalis A. Pugliese C. Nadwodny N. Brown L. X. Z. Cruz M. Hector B. L. Kapp S. K. Giwa Onaiwu M. Raymaker D. M. Robison J. E. Stewart C. Stone R. Whetsell E. Pelphrey K. Kenworthy L. (2023). Centering the inner experience of autism: Development of the self-assessment of autistic traits. Autism in Adulthood, 5(1), 93–105. https://doi.org/10.1089/aut.2021.0099

Russell G. Kapp S. K. Elliott D. Elphick C. Gwernan-Jones R. Owens C. (2019). Mapping the autistic advantage from the accounts of adults diagnosed with autism: A qualitative study. Autism in Adulthood, 1(2), 124–133. https://doi.org/10.1089/aut.2018.0035

Russell G. Mandy W. Elliott D. White R. Pittwood T. Ford T. (2019). Selection bias on intellectual ability in autism research: A cross-sectional review and meta-analysis. Molecular Autism, 10, 9. https://doi.org/10.1186/s13229-019-0260-x

Sanderson K. (2021). High-profile autism genetics project paused amid backlash. Nature, 598(7879), 17–18. https://doi.org/10.1038/d41586-021-02602-7

Schiltz H. K. Williams Z. J. Zheng S. Kaplan-Kahn E. A. Morton H. E. Rosenau K. A. Nicolaidis C. Sturm A. Lord C. PROMnet A. (2024). Measurement matters: A commentary on the state of the science on patient reported outcome measures (PROMs) in autism research. Autism Research, 17(4), 690–701. https://doi.org/10.1002/aur.3114

Silins N. (2021). The evil demon in the lab: Skepticism, introspection, and introspection of introspection. Synthese, 198(10), 9763–9785. https://doi.org/10.1007/s11229-020-02680-6

Simmonds C. Sukhareva G. E. (2020). The first account of the syndrome Asperger described? Part 2: The girls. European Child & Adolescent Psychiatry, 29(4), 549–564. https://doi.org/10.1007/s00787-019-01371-z

Sinclair J. (1993). Don’t mourn for us. Our Voice, 1(3). https://www.autreat.com/dont_mourn.html

Sterrett K. Clarke E. Nofer J. Piven J. Lord C. (2024). Toward a functional classification for autism in adulthood. Autism Research, 17(10), 2105–2119. https://doi.org/10.1002/aur.3201

Sukhareva G. E. Wolff S. (1996). The first account of the syndrome Asperger described? Translation of a paper entitled “Die schizoiden Psychopathien im Kindesalter” by Dr. G.E. Ssucharewa; scientific assistant, which appeared in 1926 in the Monatsschrift für Psychiatrie und Neurologie 60:235–261. European Child & Adolescent Psychiatry, 5(3), 119–132. https://doi.org/10.1007/BF00571671

Thomas H. Boellstorff T. (2017). Beyond the spectrum: Rethinking autism. Disability Studies Quarterly, 37(1), Article 1. https://doi.org/10.18061/dsq.v37i1.5375

Timimi S. Milton D. Bovell V. Kapp S. Russell G. (2019). Deconstructing diagnosis: Four commentaries on a diagnostic tool to assess individuals for autism spectrum disorders. Autonomy, 1(6), AR26.

Tye C. Runicles A. K. Whitehouse A. J. O. Alvares G. A. (2019). Characterizing the interplay between autism spectrum disorder and comorbid medical conditions: An integrative review. Frontiers in Psychiatry, 9, 751. https://doi.org/10.3389/fpsyt.2018.00751

Vargason T. Frye R. E. McGuinness D. L. Hahn J. (2019). Clustering of co-occurring conditions in autism spectrum disorder during early childhood: A retrospective analysis of medical claims data. Autism Research, 12(8), 1272–1285. https://doi.org/10.1002/aur.2128

Verhoeff B. (2012). What is this thing called autism? A critical analysis of the tenacious search for autism’s essence. BioSocieties, 7(4), 410–432. https://doi.org/10.1057/biosoc.2012.23

Verhoeff B. (2013). Autism in flux: A history of the concept from Leo Kanner to DSM-5. History of Psychiatry, 24(4), 442–458. https://doi.org/10.1177/0957154X13500584

Verhoeff B. (2015a). Autism’s anatomy: A dissection of the structure and development of a psychiatric concept. University of Groningen.

Verhoeff B. (2015b). Fundamental challenges for autism research: The science-practice gap, demarcating autism and the unsuccessful search for the neurobiological basis of autism. Medicine, Health Care, and Philosophy, 18(3), 443–447. https://doi.org/10.1007/s11019-015-9636-7

Walsh P. Elsabbagh M. Bolton P. Singh I. (2011). In search of biomarkers for autism: Scientific, social and ethical challenges. Nature Reviews Neuroscience, 12(10), 603–612. https://doi.org/10.1038/nrn3113

Weiss M. D. Daniolos P. T. Coughlin K. Mulvaney-Day N. Cook B. Rosenblum D. (2024). A Scoping review of the intersectionality of autism and intellectual and developmental disability with social inequity on diagnosis and treatment of youth. Journal of Child and Adolescent Psychopharmacology, 34(7), 292–301. https://doi.org/10.1089/cap.2023.0058

Yanai I. Lercher M. J. (2024). It takes two to think. Nature Biotechnology, 42(1), 18–19. https://doi.org/10.1038/s41587-023-02074-2

Ziats C. A. Patterson W. G. Friez M. (2021). Syndromic autism revisited: Review of the literature and lessons learned. Pediatric Neurology, 114, 21–25. https://doi.org/10.1016/j.pediatrneurol.2020.06.011