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Subgrouping the Autism ''Spectrum'': Reflections on DSM-5 Perspective Subgrouping the Autism ‘‘Spectrum’’: Reflections on DSM-5 Meng-Chuan Lai1,2*, Michael V. Lombardo1, Bhismadev Chakrabarti1,3, Simon Baron-Cohen1 1 Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, United Kingdom, 2 Department of Psychiatry, National Taiwan University Hospital, Taipei, Taiwan, 3 School of Psychology and Clinical Language Sciences, Centre for Integrative Neuroscience and Neurodynamics, University of Reading, Reading, United Kingdom The biology of autism cannot yet be biomedical diagnosis in which the individ- reliability, with an intraclass Kappa (a used diagnostically, and so—like most ual needs support, and which leaves room statistical measure of reliability) of 0.69 psychiatric conditions—autism is defined for areas of strength as well as difficulty, (95% CI 0.58–0.79) [4]. by behavior [Rett syndrome (Rett’s disor- without the somewhat negative overtones There have been concerns that the der) is diagnosed by incorporating biology, of the term ‘‘disorder,’’ which implies DSM-5 criteria may be more stringent but it has been moved out of the ‘‘Autism something is ‘‘broken.’’] DSM-5 charac- than DSM-IV, such that some individuals Spectrum Disorder’’ category in DSM-5]. terizes ASD in two behavioral domains who qualified for PDD will not meet the The two international psychiatric classifi- (difficulties in social communication and new ASD criteria. A series of studies cation systems (the Diagnostic and Statis- social interaction, and unusually restricted, testing the initial [5] and revised draft tical Manual of Mental Disorders [DSM] repetitive behaviors and interests) and is ASD criteria [6–12] showed increased and the International Classification of accompanied by a severity scale to capture specificity but decreased sensitivity of the Diseases [ICD]) remain useful for making the ‘‘spectrum’’ nature of ASD. DSM-5 draft compared to DSM-IV, and clinical diagnoses, but each time these Also new in DSM-5, language develop- suggested relaxation of the threshold (e.g., classification systems are revised, the new ment/level is treated as separate from fewer numbers of required symptom definitions inevitably subtly change the ASD. This means an individual can have subdomains) to achieve reasonable sensi- nature of how the conditions are con- ASD with or without a language disorder. tivity. However, most of these studies strued. While acknowledging concerns Finally, DSM-5 proposes a more inclusive suffer from the weakness of using retro- about issues such as diagnostic inflation age-of-onset criterion, recognizing that spective datasets and tools developed [1] and financial conflicts of interest [2], although symptoms should present in early earlier that may not satisfactorily capture DSM-5 is now ‘‘set in stone’’ and will be childhood, they may not fully manifest symptoms now included in DSM-5 [13]. published in May 2013. Although this until social demands exceed the capacity One prospective study tested both DSM- manual is primarily designed for creating a of the individual to cope with them. The IV and DSM-5 criteria against the gold common language for clinical practice, it is major rationale behind these changes is to standard of ‘‘best-estimate clinical diagno- also often used in research settings to improve reliability [3]. The DSM-5 field ses’’ and agreed with the ‘‘too-stringent’’ define the conditions to be studied. Here trial in North America has shown that conclusion in a clinical sample [14]. we reflect on what the revision may mean ASD diagnosis has reasonable test-retest However, another substantially large ret- for research, and for understanding the nature of autism. Citation: Lai M-C, Lombardo MV, Chakrabarti B, Baron-Cohen S (2013) Subgrouping the Autism ‘‘Spectrum’’: New in DSM-5 is the explicit recogni- Reflections on DSM-5. PLoS Biol 11(4): e1001544. doi:10.1371/journal.pbio.1001544 tion of the ‘‘spectrum’’ nature of autism, Academic Editor: Eric Nestler, Mount Sinai School of Medicine, United States of America subsuming and replacing the DSM-IV Published April 23, 2013 Pervasive Developmental Disorder (PDD) Copyright: ß 2013 Lai et al. This is an open-access article distributed under the terms of the Creative categorical subgroups of ‘‘autistic disor- Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, der,’’ ‘‘Asperger’s disorder,’’ ‘‘pervasive provided the original author and source are credited. developmental disorder not otherwise Funding: Meng-Chuan Lai is supported by the Waterloo Foundation (http://www.waterloofoundation.org.uk/ specified,’’ and ‘‘childhood disintegrative index.html), Wolfson College, Cambridge (http://www.wolfson.cam.ac.uk/), and the European Autism Interventions – A Multicentre Study for Developing New Medications (EU-AIMS, http://www.eu-aims.eu/; the disorder’’ into a single umbrella term research of EU-AIMS receives support from the Innovative Medicines Initiative Joint Undertaking under grant ‘‘Autism Spectrum Disorder’’ (ASD). agreement nu 115300, resources of which are composed of financial contribution from the European Union’s [Here and throughout we use the term Seventh Framework Programme (FP7/2007–2013), from the EFPIA companies in kind contribution and from Autism Speaks). Michael V. Lombardo is supported by the British Academy (http://www.britac.ac.uk/) and Jesus ‘‘ASD’’ because this is what is used in College, Cambridge (http://www.jesus.cam.ac.uk/). Bhismadev Chakrabarti is supported by the Medical DSM-5. However, in our publications Research Council, UK (http://www.mrc.ac.uk/index.htm). Simon Baron-Cohen is supported by the Wellcome over many years we have opted for the Trust (http://www.wellcome.ac.uk/) and the Medical Research Council, UK. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. more neutral term ‘‘ASC’’ (Autism Spec- trum Conditions) to signal that this is a Competing Interests: The authors have declared that no competing interests exist. Abbreviations: AQ, Autism Spectrum Quotient; ASC, Autism Spectrum Conditions; ASD, Autism Spectrum Disorder; ASSQ, Autism Spectrum Screening Questionnaire; BAP, broader autism phenotype; CAST, Childhood The Perspective section provides experts with a Autism Spectrum Test; DSM, Diagnostic and Statistical Manual of Mental Disorders; ICD, International forum to comment on topical or controversial issues Classification of Diseases; NIMH, US National Institute of Mental Health; PDD, Pervasive Developmental of broad interest. Disorder; Q-CHAT, Quantitative Checklist for Autism in Toddlers; SRS, Social Responsiveness Scale. * E-mail: [email protected] PLOS Biology | www.plosbiology.org 1 April 2013 | Volume 11 | Issue 4 | e1001544 rospective study using data from three to future research into the ‘‘autism spec- subgrouping ‘‘to stop trying to ‘carve existing datasets found few differences trum,’’ it is important to be clear to which meatloaf at the joints’ and instead between the two systems in sensitivity [15]. meaning the term ‘‘spectrum’’ refers. recognize the essential shared features In brief, these studies all show that of the autism spectrum while attempt- DSM-5 provides better specificity (so 1. ‘‘Spectrum’’ can refer to the dimen- ing to individualize diagnosis through reducing false-positive diagnoses), but at sional nature of the cardinal features of dimensional descriptors’’ (p. 541) [32]. the expense of potentially reduced sensi- autism within the clinical population (i.e., While it is likely that the reliability of tivity, especially for older children, adoles- differences in the severity and presen- diagnosis will improve by using the cents and adults, individuals without tation of symptoms among those with a broader ASD label (compared to using intellectual disability, and individuals diagnosis of ASD). This was suggested DSM-IV subtypes), to understand the who previously met criteria for diagnoses in the 1970s, before autism appeared in biology of ‘‘the autisms,’’ it is necessary of DSM-IV ‘‘Asperger’s disorder’’ or DSM-III, when Lorna Wing highlight- to clarify not just the similarities but ‘‘pervasive developmental disorder not ed the diversity among the cardinal also the differences among subgroups. otherwise specified.’’ It remains to be seen behavioral domains within autism [20]. in real-life settings how diagnostic practice, 2. ‘‘Spectrum’’ can also refer to the service delivery, and prevalence estimates continuity between the general population and Subgrouping and the Use of will be affected by applying DSM-5 ASD the clinical population. This view of the ‘‘Specifiers’’ criteria. In particular, one major nosolog- spectrum requires the concept of ‘‘au- ical issue is to what extent individuals tistic traits’’ (sometimes referred to as DSM-5 holds back from listing sub- fitting DSM-IV PDD but not DSM-5 ‘‘autistic-like traits’’) that run right groups by recommending the use of ASD diagnoses will end up falling into through the whole population. Autistic ‘‘specifiers’’ to record the severity of the newly created diagnosis of ‘‘Social traits can refer to the individual cardinal symptoms, current language and (Pragmatic) Communication Disorder’’ features that together comprise the intellectual ability, onset age and pattern, [12,16–18]. Clearly more research needs quantitative variability in the cardinal and concurrent genetic/medical or envi- to be done to provide a thorough and fair behavioral domains defined by DSM/
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