This article critically examines the conceptual and clinical frameworks underpinning the understanding of autism, challenging the dominance of the autism spectrum disorder (ASD) label. Since the introduction of ASD in the fifth version of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), research has largely emphasized deficit-focused perspectives, aligning autism with intellectual and cognitive disability. Historical accounts by researchers like Sukhareva, Kanner, Asperger, and Frankl, however, depict autism as a complex neurotype characterized by unique strengths, intelligence, creativity, and personality traits. By juxtaposing these foundational insights with the modern pathological framing introduced by Wing and Gould, the article highlights the limitations of ASD in capturing the real nature and definition of autism. A review of autism research trends reveals a persistent bias toward a homogeneous, deficit-oriented model, often excluding perspectives that view autism as a form of cognitive diversity. The article also critiques media representations, which oscillate between stereotypical portrayals and reductive “idiot” and savant depictions, failing to “authentically” represent autism. Advocating for a paradigm shift, it calls for an interdisciplinary approach rooted in biology (research about species and genera), cognitive and evolutionary psychology, ecology, and anthropology (research about alterity and otherness) and challenges the entrenched deficit model. This shift would promote a better understanding of autism, acknowledging it as a neurodevelopmental condition (characterized by distinct cognitive patterns) rather than a disorder (defined by deficits and/or impairments).
Citation: Kevin Rebecchi. Beyond “autism spectrum disorder”: toward a redefinition of the conceptual foundations of autism[J]. AIMS Medical Science, 2025, 12(2): 193-209. doi: 10.3934/medsci.2025012
This article critically examines the conceptual and clinical frameworks underpinning the understanding of autism, challenging the dominance of the autism spectrum disorder (ASD) label. Since the introduction of ASD in the fifth version of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), research has largely emphasized deficit-focused perspectives, aligning autism with intellectual and cognitive disability. Historical accounts by researchers like Sukhareva, Kanner, Asperger, and Frankl, however, depict autism as a complex neurotype characterized by unique strengths, intelligence, creativity, and personality traits. By juxtaposing these foundational insights with the modern pathological framing introduced by Wing and Gould, the article highlights the limitations of ASD in capturing the real nature and definition of autism. A review of autism research trends reveals a persistent bias toward a homogeneous, deficit-oriented model, often excluding perspectives that view autism as a form of cognitive diversity. The article also critiques media representations, which oscillate between stereotypical portrayals and reductive “idiot” and savant depictions, failing to “authentically” represent autism. Advocating for a paradigm shift, it calls for an interdisciplinary approach rooted in biology (research about species and genera), cognitive and evolutionary psychology, ecology, and anthropology (research about alterity and otherness) and challenges the entrenched deficit model. This shift would promote a better understanding of autism, acknowledging it as a neurodevelopmental condition (characterized by distinct cognitive patterns) rather than a disorder (defined by deficits and/or impairments).
| [1] | American Psychiatric Association (2013) Diagnostic and statistical manual of mental disorders. 5 Eds., American Psychiatric Publishing. https://doi.org/10.1176/appi.books.9780890425596 |
| [2] | American Psychiatric Association (2022) Diagnostic and statistical manual of mental disorders. 5 Eds., text revision. American Psychiatric Publishing. https://doi/book/10.1176/appi.books.9780890425787 |
| [3] |
First MB, Yousif LH, Clarke DE, et al. DSM-5-TR: overview of what's new and what's changed. World Psychiatry 21: 218-219. https://doi.org/10.1002/wps.20989
|
| [4] |
Salvo MD (2024) Autism Research between Psychology and Neuroscience. Palgrave Macmillan. https://doi.org/10.1007/978-3-031-68338-1
|
| [5] |
Baron-Cohen S (2002) The extreme male brain theory of autism. Trends Cogn Sci 6: 248-254. https://doi.org/10.1016/s1364-6613(02)01904-6
|
| [6] |
Johnson CP, Myers SM (2007) Identification and evaluation of children with autism spectrum disorders. Pediatrics 120: 1183-1215. https://doi.org/10.1542/peds.2007-2361
|
| [7] | Wing L (1990) What is autism?, In: Ellis, K. Editor, Autism. Therapy in Practice Series. Boston: Springer. https://doi.org/10.1007/978-1-4899-6924-8_1 |
| [8] |
Baron-Cohen S (2017) Editorial perspective: neurodiversity—a revolutionary concept for autism and psychiatry. J Child Psychol Psychiatry 58: 744-747. https://doi.org/10.1111/jcpp.12703
|
| [9] | Baron-Cohen S (2020) The Pattern Seekers. Basic Books. |
| [10] |
Baron-Cohen S, Ring HA, Bullmore ET, et al. (2000) The amygdala theory of autism. Neurosci Biobehav Rev 24: 355-364. https://doi.org/10.1016/s0149-7634(00)00011-7
|
| [11] |
Frith U, Happé F (1994) Autism: beyond “theory of mind”. Cognition 50: 115-132. https://doi.org/10.1016/0010-0277(94)90024-8
|
| [12] |
Hill EL (2004) Executive dysfunction in autism. Trends Cogn Sci 8: 26-32. https://doi.org/10.1016/j.tics.2003.11.003
|
| [13] |
Lord C, Elsabbagh M, Baird G, et al. (2018) Autism spectrum disorder. Lancet 392: 508-520. https://doi.org/10.1016/S0140-6736(18)31129-2
|
| [14] |
Muhle R, Trentacoste SV, Rapin I (2004) The genetics of autism. Pediatrics 113: e472-e486. https://doi.org/10.1542/peds.113.5.e472
|
| [15] |
Baron-Cohen S (2000) Theory of mind and autism: a review. Int Rev Res Ment Retard 23: 169-184. https://doi.org/10.1016/S0074-7750(00)80010-5
|
| [16] |
Baron-Cohen S (2009) Autism: the empathizing–systemizing (E-S) theory. Ann N Y Acad Sci 1156: 68-80. https://doi.org/10.1111/j.1749-6632.2009.04467.x
|
| [17] |
Baron-Cohen S, Lombardo MV, Auyeung B, et al. (2011) Why are autism spectrum conditions more prevalent in males?. PLoS Biol 9: e1001081. https://doi.org/10.1371/journal.pbio.1001081
|
| [18] |
Buescher AV, Cidav Z, Knapp M, et al. (2014) Costs of autism spectrum disorders in the United Kingdom and the United States. JAMA Pediatr 168: 721-728. https://doi.org/10.1001/jamapediatrics.2014.210
|
| [19] |
Fombonne E (1999) The epidemiology of autism: a review. Psychol Med 29: 769-786. https://doi.org/10.1017/s0033291799008508
|
| [20] |
Fombonne E (2003) The prevalence of autism. JAMA 289: 87-89. https://doi.org/10.1001/jama.289.1.87
|
| [21] |
Frith U, Mira M (1992) Autism and Asperger syndrome. Focus Autist Behav 7: 13-15. https://doi.org/10.1177/108835769200700302
|
| [22] |
Happé F, Ronald A, Plomin R (2006) Time to give up on a single explanation for autism. Nat Neurosci 9: 1218-1220. https://doi.org/10.1038/nn1770
|
| [23] |
Lord C, Cook EH, Leventhal BL, et al. (2000) Autism spectrum disorders. Neuron 28: 355-363. https://doi.org/10.1016/s0896-6273(00)00115-x
|
| [24] |
Lord C, Brugha TS, Charman T, et al. (2020) Autism spectrum disorder. Nat Rev Dis Primers 6: 5. https://doi.org/10.1038/s41572-019-0138-4
|
| [25] |
Lyall K, Croen L, Daniels J, et al. (2017) The changing epidemiology of autism spectrum disorders. Annu Rev Public Health 38: 81-102. https://doi.org/10.1146/annurev-publhealth-031816-044318
|
| [26] |
Myers SM, Johnson CP, American Academy of Pediatrics Council on Children with Disabilities (2007) Management of children with autism spectrum disorders. Pediatrics 120: 1162-1182. https://doi.org/10.1542/peds.2007-2362
|
| [27] |
Newschaffer CJ, Croen LA, Daniels J, et al. (2007) The epidemiology of autism spectrum disorders. Annu Rev Public Health 28: 235-258. https://doi.org/10.1146/annurev.publhealth.28.021406.144007
|
| [28] |
Robertson CE, Baron-Cohen S (2017) Sensory perception in autism. Nat Rev Neurosci 18: 671-684. https://doi.org/10.1038/nrn.2017.112
|
| [29] |
Rogers SJ, Vismara LA (2008) Evidence-based comprehensive treatments for early autism. J Clin Child Adolesc Psychol 37: 8-38. https://doi.org/10.1080/15374410701817808
|
| [30] |
Scassellati B, Admoni H, Matarić M (2012) Robots for use in autism research. Annu Rev Biomed Eng 14: 275-294. https://doi.org/10.1146/annurev-bioeng-071811-150036
|
| [31] |
Simmons DR, Robertson AE, McKay LS, et al. (2009) Vision in autism spectrum disorders. Vision Res 49: 2705-2739. https://doi.org/10.1016/j.visres.2009.08.005
|
| [32] |
Tuchman R, Rapin I (2002) Epilepsy in autism. Lancet Neurol 1: 352-358. https://doi.org/10.1016/s1474-4422(02)00160-6
|
| [33] |
Volkmar FR, Lord C, Bailey A, et al. (2004) Autism and pervasive developmental disorders. J Child Psychol Psychiatry 45: 135-170. https://doi.org/10.1046/j.0021-9630.2003.00317.x
|
| [34] |
Zeidan J, Fombonne E, Scorah J, et al. (2022) Global prevalence of autism: a systematic review update. Autism Res 15: 778-790. https://doi.org/10.1002/aur.2696
|
| [35] |
Bottini SB, Morton HE, Buchanan KA, et al. (2023) Moving from disorder to difference: a systematic review of recent language use in autism research. Autism Adulthood 6: 128-140. https://doi.org/10.1089/aut.2023.0030
|
| [36] |
Wing L, Gould J (1979) Severe impairments of social interaction and associated abnormalities in children: epidemiology and classification. J Autism Dev Disord 9: 11-29. https://doi.org/10.1007/BF01531288
|
| [37] |
Sukhareva GE (1926) Die schizoiden Psychopathien im Kindesalter (Schizoid psychopathies in childhood). (Part 1 of 2). Monatsschrift für Psychiatrie und Neurologie 60: 235-247. https://doi.org/10.1159/000190478 (Article in German)
|
| [38] |
Sukhareva GE (1926) Die schizoiden Psychopathien im Kindesalter (Schizoid psychopathies in childhood). (Part 2 of 2). Monatsschrift für Psychiatrie und Neurologie 60: 248-261. https://doi.org/10.1159/000316609 (Article in German)
|
| [39] |
Sukhareva GE (1927) Die Besonderheiten der schizoiden Psychopathien bei den Madchen (The characteristics of schizoid psychopaths in girls). (Part 1 of 2). Monatsschrift für Psychiatrie und Neurologie 62: 171-185. https://doi.org/10.1159/000166291 (Article in German)
|
| [40] |
Sukhareva GE (1927) Die Besonderheiten der schizoiden Psychopathien bei den Madchen (The characteristics of schizoid psychopaths in girls). (Part 2 of 2). Monatsschrift für Psychiatrie und Neurologie 62: 186-200. https://doi.org/10.1159/000323311 (Article in German)
|
| [41] | Rebecchi K (2022) Autistic Children - Grunya Sukhareva. Kindle Direct Publishing. |
| [42] | Asperger H (1938) Das psychisch abnorme kind (The mentally abnormal child). Wiener Klinische Wochenschrift 51: 1314-1317. |
| [43] | Asperger H (1944) Die “Autistischen Psychopathen” im Kindesalter (The “Autistic Psychopaths” in childhood), In: Archiv für Psychiatrie und Nervenkrankheiten, 117: 76-136. |
| [44] | Rebecchi K (2021) Autistic Children - Hans Asperger. Kindle Direct Publishing. |
| [45] | Rebecchi K (2023) Autism: The Founding Writings of Hans Asperger. Kindle Direct Publishing. |
| [46] |
Rebecchi K (2024) “Early childhood autism, Asperger type”, by H. Asperger (1982). Hist Psychiatry 35: 363-376. https://doi.org/10.1177/0957154X241248261
|
| [47] | Kanner L (1943) Autistic disturbances of affective contact. Nervous Child 2: 217-250. |
| [48] |
Kanner L (1971) Follow-up study of eleven autistic children originally reported in 1943. J Autism Child Schizophr 1: 119-145. https://doi.org/10.1007/bf01537953
|
| [49] | Frankl G (1957) Autism in childhood: an attempt of an analysis (unpublished manuscript). Lawrence, KS: Kenneth Spencer Research Library, The University of Kansas. |
| [50] |
Wing L (1981) Asperger's syndrome: a clinical account. Psychol Med 11: 115-129. https://doi.org/10.1017/s0033291700053332
|
| [51] |
Feinstein A (2010) A History of Autism Conversations with the Pioneers. Chichester Wiley-Blackwell.
|
| [52] |
Chapman R (2020) The reality of autism: on the metaphysics of disorder and diversity. Philos Psychol 33: 799-819. https://doi.org/10.1080/09515089.2020.1751103
|
| [53] |
Fein E (2020) Living on the Spectrum: Autism and Youth in Community. NYU Press.
|
| [54] |
Haraway D (1988) Situated knowledges: the science question in feminism as a site of discourse on the privilege of perspective. Feminist Studies 14: 575-599.
|
| [55] |
Chapman R (2023) Empire of Normality. Pluto Press.
|
| [56] | Limburg J (2021) Letters To My Weird Sisters. Atlantic Books. |
| [57] |
Evans B (2013) How autism became autism: the radical transformation of a central concept of child development in Britain. Hist Human Sci 26: 3-31. https://doi.org/10.1177/0952695113484320
|
| [58] | Evans B (2027) The metamorphosis of autism. Available from: https://doi.org/10.26530/oapen_625488 |
| [59] |
McGrath J (2017) Naming Adult Autism: Culture, Science, Identity. Rowman & Littlefield International.
|
| [60] |
Frith U (1991) Autism and Asperger Syndrome. Cambridge University Press.
|
| [61] |
Thurm A, Farmer C, Salzman E, et al. (2019) State of the field: differentiating intellectual disability from autism spectrum disorder, In: Stavropoulos, K.K.M., McPartland, J.C., Editors. Front Psychiatry 10: 526. https://doi.org/10.3389/fpsyt.2019.00526
|
| [62] | Blacher J, Baker BL, Moody CT (2022) Autism spectrum disorder versus intellectual disability, In: Stavropoulos, K.K.M., McPartland, J.C., Editors, Differential Diagnosis of Autism Spectrum Disorder. New York: Oxford Academic, 22-43. https://doi.org/10.1093/med-psych/9780197516881.003.0002 |
| [63] |
Engel-Yeger B, Hardal-Nasser R, Gal E (2011) Sensory processing dysfunctions as expressed among children with different severities of intellectual developmental disabilities. Res Dev Disabil 32: 1770-1775. https://doi.org/10.1016/j.ridd.2011.03.005
|
| [64] |
Mauerberg-deCastro E, Cozzani MV, Polanczyk SD, et al. (2009) Motor perseveration during an “A not B” task in children with intellectual disabilities. Hum Mov Sci 28: 818-832. https://doi.org/10.1016/j.humov.2009.07.010
|
| [65] |
van Santen JP, Sproat RW, Hill AP (2013) Quantifying repetitive speech in autism spectrum disorders and language impairment. Autism Res 6: 372-383. https://doi.org/10.1002/aur.1301
|
| [66] |
Gellini H, Marczak M (2024) “I always knew I was different”: experiences of receiving a diagnosis of autistic spectrum disorder in adulthood—a meta-ethnographic systematic review. Rev J Autism Dev Disord 11: 620-639. https://doi.org/10.1007/s40489-023-00356-8
|
| [67] | Singer J (1998) Odd people in: the birth of community amongst people on the autistic spectrum. (Bachelor's thesis). University of Technology Sydney. |
| [68] | Singer J (2017) Neurodiversity: The Birth of an Idea. Independently published. |
| [69] | Singer J (2019) What is neurodiversity? Reflections on neurodiversity. |
| [70] | Sinclair J (1999) Don't Mourn for Us. Autistic Rights Movement UK. |
| [71] |
Duchan JF (1985) Autistic behavior: deviant or different. Australian J Hum Commun Disord 13: 3-8. https://doi.org/10.3109/asl2.1985.13.issue-2.01
|
| [72] | Wolfensberger W (1980) Research, empiricism, and the principle of normalization. SRV J 2: 29-35. |
| [73] | Silberman S (2015) Neurotribes: The Legacy of Autism and the Future of Neurodiversity. Avery. |
| [74] |
Mottron L (2021) A radical change in our autism research strategy is needed: back to prototypes. Autism Res 14: 2213-2220. https://doi.org/10.1002/aur.2494
|
| [75] |
Mottron L, Bzdok D (2020) Autism spectrum heterogeneity: fact or artifact?. Mol Psychiatry 25: 3178-3185. https://doi.org/10.1038/s41380-020-0748-y
|
| [76] |
Taboas A, Doepke K, Zimmerman C (2022) Preferences for identity-first versus person-first language in a US sample of autism stakeholders. Autism 27: 565-570. https://doi.org/10.1177/13623613221130845
|
| [77] |
Miller D, Rees J, Pearson A (2021) “Masking is life”: experiences of masking in autistic and nonautistic adults. Autism Adulthood 3: 330-338. https://doi.org/10.1089/aut.2020.0083
|
| [78] |
Cridland EK, Jones SC, Caputi P, et al. (2014) Being a girl in a boys' world: investigating the experiences of girls with autism spectrum disorders during adolescence. J Autism Dev Disord 44: 1261-1274. https://doi.org/10.1007/s10803-013-1985-6
|
| [79] |
Roane HS, Fisher WW, Carr JE (2016) Applied behavior analysis as treatment for autism spectrum disorder. J Pediatr 175: 27-32. https://doi.org/10.1016/j.jpeds.2016.04.023
|
| [80] |
Carmona-Serrano N, López-Belmonte J, López-Núñez JA, et al. (2020) Trends in autism research in the field of education in web of science: a bibliometric study. Brain Sci 10: 1018. https://doi.org/10.3390/brainsci10121018
|
| [81] |
Graff HJ, Berkeley S, Evmenova AS, et al. (2014) Trends in autism research: a systematic journal analysis. Exceptionality 22: 158-172. https://doi.org/10.1080/09362835.2013.865532
|
| [82] |
Cage E, Crompton CJ, Dantas S, et al. (2024) What are the autism research priorities of autistic adults in Scotland?. Autism 28: 2179-2190. https://doi.org/10.1177/13623613231222656
|
| [83] |
Pellicano E, Dinsmore A, Charman T (2014) What should autism research focus upon? Community views and priorities from the United Kingdom. Autism 18: 756-770. https://doi.org/10.1177/1362361314529627
|
| [84] |
Roche L, Adams D, Clark M (2020) Research priorities of the autism community: a systematic review of key stakeholder perspectives. Autism 25: 336-348. https://doi.org/10.1177/1362361320967790
|
| [85] | Garcia E (2021) We're Not Broken. HarperCollins. |
| [86] |
Grinker RR (2015) Reframing the science and anthropology of autism. Cult Med Psychiatry 39: 345-350. https://doi.org/10.1007/s11013-015-9444-9
|
| [87] | Price D (2022) Unmasking Autism: Discovering the New Faces of Neurodiversity. Harmony Books. |
| [88] | Eyal G, Hart B, Onculer E, et al. (2010) The autism matrix: the social origins of the autism epidemic. Polity Press. |
| [89] | Mottron L (2016) Is autism a different kind of intelligence? New insights from cognitive neurosciences. Bull Acad Natl Med 200: 423-434. https://doi.org/10.1016/S0001-4079(19)30719-8 (Article in French) |
| [90] | Mottron L (2024) Si l'autisme n'est pas une maladie, qu'est-ce? (If autism is not a disease, what is it?). Mardaga. (Book in French). |
| [91] | Grinker RR (2019) Autism, “Stigma,” Disability. Curr Anthropol 61. https://doi.org/10.1086/705748 |
| [92] |
Waltz M (2023) Autism: A Social and Medical History. Springer Nature.
|
| [93] | Murray S (2008) Representing Autism: Culture, Narrative, Fascination. Liverpool University Press. |
| [94] |
Nordahl-Hansen A (2017) Atypical: a typical portrayal of autism?. Lancet Psychiatry 4: 837-838. https://doi.org/10.1016/S2215-0366(17)30397-8
|
| [95] | Horn JL (1989) Cognitive diversity: A framework of learning, In: Ackerman, D.P.L., Sternberg R.J., Glaser, R. Editors. Learning and individual differences: Advances in theory and research. W. H. Freeman, 61-116. |
| [96] |
Stich S (1988) Reflective equilibrium, analytic epistemology and the problem of cognitive diversity. Synthese 74: 391-413.
|
| [97] | Corbey R, Leerssen J (1991) Studying alterity: backgrounds and perspectives. In: Alterity, Identity, Image: Selves and Others in Society and Scholarship. Amsterdam: Rodopi. |
| [98] |
Wulf C (2016) Exploring Alterity in a Globalized World. Routledge.
|
| [99] | Schröder P (1938) Kinderpsychiatrie (Child Psychiatry). Monatsschrift für Psychiatrie und Neurologie 99: 267-293. https://doi.org/10.1159/000148673 (Article in German) |
| [100] | Scheepers F (2021) Mensen zijn ingewikkeld: Een pleidooi voor acceptatie van de werkelijkheid en het loslaten van modeldenken (People are complicated: A plea for acceptance of reality and letting go of model thinking). De Arbeiderspers. (Book in Dutch). |
| [101] | Plomin R (2018) Blueprint: How DNA Makes Us Who We Are. Allen Lane. |
| [102] | Rebecchi K (2023) Neurodiversité et autisme: entre handicap et différence, science et idéologie. Revue de la neurodiversité (Neurodiversity and autism: between disability and difference, science and ideology). 1: 25-51. hal-04142256. https://doi.org/10.31234/osf.io/bksxn (Article in French) |
| [103] |
Hyman SE (2021) Psychiatric disorders: grounded in human biology but not natural kinds. Perspect Biol Med 64: 6-28. https://doi.org/10.1353/pbm.2021.0002
|
| [104] |
Cosgrove L, Krimsky S (2012) A comparison of DSM-IV and DSM-5 panel members' financial associations with industry: a pernicious problem persists. PLoS Med 9: e1001190. https://doi.org/10.1371/journal.pmed.1001190
|
| [105] |
Davis LC, Diianni AT, Drumheller SR, et al. (2024) Undisclosed financial conflicts of interest in DSM-5-TR: cross sectional analysis. BMJ 384: e076902. https://doi.org/10.1136/bmj-2023-076902
|
| [106] |
Bervoets J, Hens K (2020) Going beyond the Catch-22 of autism diagnosis and research. The moral implications of (Not) asking “What Is Autism?”. Front Psychol 11: 529193. https://doi.org/10.3389/fpsyg.2020.529193
|
| [107] | Feyerabend P (1975) Against Method: Outline of an Anarchistic Theory of Knowledge. University of Minnesota Press. |
| [108] | Canguilhem G (2012) On the Normal and the Pathological. Springer Science & Business Media. |
| [109] | Foucault M (1972) Histoire de la folie à l'âge classique (History of Madness in the Classical Age). Gallimard. (Book in French). |
| [110] | Frances A (2014) Saving normal: An Insider's Revolt Against Out-of-Control Psychiatric Diagnosis, DSM-5, Big Pharma, and the Medicalization of Ordinary Life. William Morrow Paperbacks. |
| [111] | Szasz TS (1973) The Second Sin. Anchor Press. |