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DSM-5 significantly increased sensitivity by reducing the number of criteria required for a diagnosis, without sacrificing specificity. Reduced rates of ASD diagnosis may mean some individuals will be unable to access clinical services. A formal diagnosis of an ASD is often used as a 'gatekeeper' for services and support.
DSM-5 significantly increased sensitivity by reducing the number of criteria required for a diagnosis, without sacrificing specificity. Reduced rates of ASD diagnosis may mean some individuals will be unable to access clinical services. A formal diagnosis of an ASD is often used as a 'gatekeeper' for services and support.
DSM-5 significantly increased sensitivity by reducing the number of criteria required for a diagnosis, without sacrificing specificity. Reduced rates of ASD diagnosis may mean some individuals will be unable to access clinical services. A formal diagnosis of an ASD is often used as a 'gatekeeper' for services and support.
Comparison of ICD-10R, DSM-IV-TR and DSM-5 in an Adult
Autism Spectrum Disorder Diagnostic Clinic C. Ellie Wilson
Nicola Gillan
Deborah Spain
Dene Robertson
Gedeon Roberts
Clodagh M. Murphy
Stefanos Maltezos
Janneke Zinkstok
Katie Johnston
Christina Dardani
Chris Ohlsen
P. Quinton Deeley
Michael Craig
Maria A. Mendez
Francesca Happe Declan G. M. Murphy Published online: 16 March 2013 Springer Science+Business Media New York 2013 Abstract An Autism Spectrum Disorder (ASD) diagnosis is often used to access services. We investigated whether ASD diagnostic outcome varied when DSM-5 was used compared to ICD-10R and DSM-IV-TR in a clinical sample of 150 intellectually able adults. Of those diagnosed with an ASD using ICD-10R, 56 % met DSM-5 ASD criteria. A further 19 % met DSM-5 (draft) criteria for Social Communication Disorder. Of those diagnosed with Autistic Disorder/Asperger Syndrome on DSM-IV-TR, 78 % met DSM-5 ASD criteria. Sensitivity of DSM-5 was signicantly increased by reducing the number of criteria required for a DSM-5 diagnosis, or by rating uncertain criteria as present, without sacricing specicity. Reduced rates of ASD diagnosis may mean some ASD individuals will be unable to access clinical services. Keywords Autism Spectrum Disorder Diagnosis Prevalence DSM-5 Introduction Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with a prevalence currently estimated at 1 in 80 individuals (Pinborough-Zimmerman et al. 2012). In recent years there has been a rise in reported rates of ASD. The reason for this is unclear, but changes in diagnostic practice are likely to have contributed (Fombonne 2005). Also, a formal diagnosis of an ASD is often used as a gatekeeper for services and support. Therefore changes in diagnostic practice may have important implicationsboth for clini- cal prevalence rates and for an individuals care options. An Autism Spectrum Disorder is diagnosed on the basis of three domains: impaired social interaction, abnormal communication, and restricted and repetitive behaviours and interests. Using current diagnostic criteria in the International Classication of Diseases (ICD-10R; World Health Organization 1993) and the Diagnostic and Statis- tical Manual (DSM-IV-TR; American Psychiatric Associ- ation 2000), ASD comes under the umbrella term of Pervasive Developmental Disorder (PDD) and an individ- ual may be dened as having one of four diagnostic sub- types according to the range of symptoms and the presence/ absence of factors such as developmental language delay and intellectual disability (i.e., Asperger Syndrome, Childhood Autism/Autistic Disorder, Atypical Autism, Francesca Happe and Professor Declan Murphy are joint senior authors. Data from this manuscript were presented at the International Meeting for Autism Research, Toronto, Canada, May 2012. Francesca Happe is part of the DSM-5 workgroup on neurodevelopmental disorders. C. E. Wilson (&) N. Gillan D. Spain G. Roberts C. M. Murphy S. Maltezos J. Zinkstok C. Dardani P. Q. Deeley M. Craig M. A. Mendez D. G. M. Murphy Department of Forensic and Neurodevelopmental Science, Institute of Psychiatry, Kings College, London SE5 8AF, UK e-mail: ellie.wilson@kcl.ac.uk C. E. Wilson N. Gillan D. Spain D. Robertson G. Roberts C. M. Murphy S. Maltezos J. Zinkstok K. Johnston C. Ohlsen P. Q. Deeley M. Craig M. A. Mendez D. G. M. Murphy Behavioural Genetics Clinic, Maudsley Hospital, South London and Maudsley NHS Foundation Trust, London SE5 8AZ, UK F. Happe Department of Social Genetic Developmental and Psychiatry Centre, Institute of Psychiatry, Kings College, London SE5 8AF, UK 1 3 J Autism Dev Disord (2013) 43:25152525 DOI 10.1007/s10803-013-1799-6 PDD-unspecied). There are, however, problems with current diagnostic algorithms. First, distinguishing the social and communication domains is somewhat arbi- trary since almost any example of communication is social and vice versa, and, several social and communication symptoms are covered by multiple criteria. For instance, behaviors indicative of poor socio-emotional reciprocity are currently covered in three criteriapoor emotional reciprocity (social domain), lack of sharing enjoyment and interests (social domain), and poor reciprocal conversation (communication domain) (see Appendix 1). Second, there is a lack of evidence for signicant differences between ASD diagnostic subtypes (once IQ matched) in etiology, neuropsychological prole, treatment or outcome, and poor clinical agreement when diagnosing (Ozonoff 2012). Unclear guidance on how to dene people who have symptoms of ASD but do not meet full criteria also con- tributes to disagreement between clinicians. To address these problems, the Neurodevelop- mental Disorders Workgroup, convened by the American Psychiatric Association (APA), has proposed a number of signicant changes to the diagnostic criteria for ASD (Happe 2011; Swedo et al. 2012). The social and com- munication impairment criteria will be combined into a single set, thus reducing the current triad of impairments to two domains. In the social and communication domain there will be three criteria, instead of the current total of eight, and each criteria will include several examples of behaviors from across the lifespan that might indicate the presence of that symptom. Next, the previously distinct diagnostic subtypes will be collapsed into a single category of Autism Spectrum Disorder. People who do not present with the full range of symptoms will no longer be eligible for an ASD diagnosis, since there is no atypical or not otherwise specied category (as in ICD-10R, DSM-IV- TR). Instead, a new diagnostic category called Social Communication Disorder (SCD) has been proposed. This is dened as being outside the autism spectrum, but will provide diagnostic coverage for those individuals with symptoms in the social-communication domain, but who have never displayed repetitive, restricted behaviours or interests. The intention is that the changes to the diagnostic algorithm will reduce the wide variability between indi- viduals on the autistic spectrum, by more clearly dening the symptoms required for diagnosis and by reducing the potential for clinicians to disagree. The effect of the proposed changes on diagnostic out- comes has been investigated in children and adolescents with several studies reporting that the specicity of the proposed DSM-5 criteria is good, but sensitivity is rela- tively poor, when judged against current ICD-10R or DSM-IV-TR criteria (Frazier et al. 2012; Matson et al. 2012; Mattila et al. 2011; McPartland et al. 2012; Taheri and Perry 2012; Worley and Matson 2012). This high- lights a key concern of some: that the new criteria will fail to capture individuals currently receiving an ASD diag- nosis who are on the broader spectrum according to DSM-IV-TR or ICD-10R criteria (e.g., Pervasive Devel- opmental Disorder-not otherwise specied; PDD-NOS). As a consequence it is feared by some that these indi- viduals will be denied access to services. Reassuringly, however, a large study of children diagnosed within the PDD category according to DSM-IV-TR suggested that sensitivity of DSM-5 is very good (0.91) although sensi- tivity in this study was much lower (0.53) (Huerta et al. 2012). The effect of the proposed changes for adults has received relatively little attention. This is of importance because ASD is a lifelong condition therefore most people with ASD are adults. Moreover, the number of individuals presenting for rst diagnosis in adulthood is rapidly increasing: at the National ASD assessment service at the South London and Maudsley in the UK, the number of ASD assessments per month increased fourfold between 2005 and 2010 (Murphy et al. 2011). Further, diagnosis is particularly challenging in this group because a develop- mental history is often unavailable and/or unreliable; and presentation is frequently complicated by additional mental health conditions (Carpenter 2012). The only prior study that explored the agreement between current and proposed ASD criteria in adults included only individuals with (mostly profound) intellectual disability living in residential centers (Matson et al. 2012); they reported that approximately one third of the individuals who met DSM- IV-TR criteria no longer met them using the draft DSM-5. This study was a valuable rst step. However, the majority of the ASD population does not have profound intellectual impairment (Baird et al. 2000) and such people are assessed within mental health or social/edu- cational services. Also, it is unknown what proportion of individuals would qualify for the new, alternative diag- nosis of SCD. Our primary aim, therefore, was to investigate how diagnostic outcomes of the DSM-5 algorithm differed from both ICD-10R and the DSM-IV-TR when applied in a clinical health service; and to compare all three algorithms to so-called gold-standard research diagnostic assessment tools (the Autism Diagnostic Interview-Revised (ADI-R; Lord et al. 1994) and Autism Diagnostic Observation Schedule (ADOS-G; Lord et al. 2000). Our secondary aims were to investigate whether diagnostic outcomes were affected by participant characteristics (age, sex, IQ, pres- ence of additional mental health conditions), or alterations to the formulation of the proposed algorithm. Specically, the impact of reducing the number of criteria required for a formal diagnosis was examined, and also the treatment of 2516 J Autism Dev Disord (2013) 43:25152525 1 3 criteria where the clinician was uncertain or had insuf- cient information to code the item. Method Participants Participants included 158 individuals consecutively asses- sed for ASD in a specialist National tertiary ASD diag- nostic clinic for adults between January and May 2011. The clinic is situated within the South London and Maudsley NHS Foundation Trust. People are typically referred by their local family physician/general practitioner (GP) or consultant psychiatrist for a second opinion. In 8 cases diagnosis was inconclusive due to a history of acquired head injury or the presence of severe psychotic symptoms during assessment. Data from these cases were excluded from the study. The remaining 150 participants were aged 1865 years, with a mean age of 31 years. There were 110 males (mean age 32 years) and 40 females (mean age 31 years). Seventy-three patients already had a diagnosis of a mental health condition (most commonly depression, anxiety, Obsessive Compulsive Disorder (OCD), or Attention Decit Hyperactivity Disorder (ADHD)), and only 7 of these had previously been diagnosed with ASD. Measures The ADI-R and ADOS-G are gold-standard research diagnostic assessment tools for ASD. The ADI-R is a semi- structured interview with the parent or caregiver assessing ASD traits during childhood, and the ADOS-G is assess- ment completed with the patient assessing current traits of ASD. High levels of testretest reliability have been reported for both the ADI-R (in all domains, j[0.6; Hill et al. 2001), and the ADOS-G (in social and communica- tion domains, j[0.7; Lord et al. 2000). Well-validated self-rating questionnaires were used to assess levels of other mental health conditions. The Obsessive Compulsive Inventory-Revised (OCI-R; Foa et al. 2002) was used to assess traits of OCD, and has high internal consistency when used among patients with OCD (a = .83) and patients with other anxiety disorders (a = .88), (Abramo- witz and Deacon 2006). Symptoms of ADHD were asses- sed using the Barkleys Current and Childhood Symptom Scales (Barkley and Murphy 2005), which is a self- and informant-rated questionnaire used widely in clinical assessments for ADHD in adults (Barkley 2011). Finally, the Hospital Anxiety and Depression Scale (HADS; Zig- mond and Snaith 1983) was used to assess levels of anxiety and depression, and has high levels of internal consistency when used in general population adult sample, (a = .90) (Lisspers et al. 1997). Clinical Assessment Assessment included a detailed psychiatric assessment using ICD-10R research diagnostic criteria and, where possible (i.e., where parents were available, able and willing), an ADI-R. In the event that no parent was avail- able for the ADI-R the person seeking diagnosis was asked to undergo the ADOS-G. In some cases both assessment tools were required to gather enough relevant information. Seventy-one individuals were assessed using the ADI-R, 62 were assessed with the ADOS-G, and 17 were assessed using both ADI-R and ADOS-G. All information obtained was compiled by the multi- disciplinary clinical teama consultant psychiatrist, junior doctor, and ADI-R/ADOS-G administrator (nurse or psy- chologist)who together decided whether each criterion on the ICD-10R algorithm was fullled (see Appendix 1). If a patient met full ICD-10R criteria (a total of at least six symptoms must be presenteither currently or by his- torywith at least two from the rst domain and one from each of the second and third domains) and the symptoms were noted before the age of 3, they were diagnosed with Childhood Autism (if they exhibited a language delay) or Asperger Syndrome (if there was no evidence of a lan- guage delay). In line with ICD-10R guidelines, if a patient exhibited some autistic symptoms but did not meet full ICD-10R diagnostic criteria they were diagnosed with Pervasive Developmental Disorder, unspecied (PDD- unspecied) or Atypical Autism. For the purposes of this study these two sub-threshold diagnostic groups were collapsed into a single PDD-unspecied group. In some cases it was not possible to decide condently whether or not a symptom was present due to a lack of information, or because information obtained from patient and parent contradicted each other. In this event the criterion was coded as Unclear, and the team made the clinical diag- nostic decision based on the gestalt of the information received. Of the 150 consecutive assessments, 113 were diagnosed with an ASD using ICD-10R criteria. Of these, 28 participants were subtyped as having Childhood Aut- ism, 48 Asperger Syndrome, and 37 PDD-unspecied. Additional mental health conditions were also diagnosed in accordance with the ICD-10R (with the exception of adult ADHD which, in keeping with UK guidelines, was assessed using DSM-IV-TR), and the supplementary self- report questionnaires were used to help inform assessment of OCD, ADHD, depression and anxiety (respectively, the OCI-R, Barkleys Current and Childhood Symptom Scales, and the HADS). J Autism Dev Disord (2013) 43:25152525 2517 1 3 Where there was clinical suspicion that a participant might have intellectual disability (F70-73 in ICD-10R) or a signicant lacuna in a neuropsychological function, they were referred for testing of general intellectual and exec- utive functioning. These participants (N = 35) were tested using the Weschler Abbreviated Intelligence Scale-III, (WAIS III; Wechsler 1997) which revealed a mean Per- formance IQ of 87 (SD = 16, range 55132) and a mean Verbal IQ of 95 (SD = 18, range 60133). Mean full-scale IQ could not be calculated in 16 participants due to large discrepancies between Performance IQ and Verbal IQ; in the remaining 19 mean full-scale IQ was 90 (SD = 17, range 53129) and only 2 participants had an IQ below 70. The remaining 115 participants, not referred for such testing, were estimated to be in the normal range of general intellectual function based on educational attainment, employment, and informant report. Procedure For each participant the diagnostic outcome (ASD/not ASD; ICD-10R subtype of ASD; ADI-R and ADOS-G scores; presence of additional mental health problems) was reviewed by the research team. Information from the ICD-10R algorithm was used to determine whether each criterion on the proposed DSM-5 algorithm would be sat- ised, and this was supplemented by anonymized reports from the ADI-R, ADOS-G, and the psychiatric interview. Appendix 2 shows how information in the ICD-10R maps onto the DSM-5. Each criterion could be coded as Yes, No, or Unclear. A participant was considered to meet criteria for ASD on the DSM-5 only when all three criteria in A and at least 2 out of 4 criteria in B were coded as Yes, as suggested in the criteria last posted by APA. If a participant did not meet criteria for ASD on the DSM-5 it was determined whether they would meet criteria for the alternative diagnosis of Social Communication Disorder (SCD). Re-coding was completed by pairs of researchers, and for 40 sets of participant data the re-coding was reviewed at consensus meetings with the whole team (10 researchers) to ensure agreement. Data were also re-coded to complete the DSM-IV-TR algorithm (demonstrated in Appendix 1), on which par- ticipants could be diagnosed as either ASD (Autistic Disorder/Asperger Syndrome) if they fullled at least six criteria, with at least 2 in domain A and 1 from each of domains B and C, or not ASD. Factors affecting agreement between ICD-10R, DSM- IV-TR and DSM-5 were also investigated. Participant characteristics (age, sex, IQ, additional mental health conditions) were compared between ASD positive and negative groups, and the effect of being assessed using the ADI-R, ADOS-G, or both, was also investigated. The effect of altering the DSM-5 algorithm was examined in two ways: by relaxing the number of criterion required for diagnosis, and by considering criteria that were coded as Unclear as either met or not met. To examine the effect of relaxing the number of criteria required for diagnosis the thresholds were reduced in Criteria A (from 3 to 2), or in Criteria B (from 2 to 1), or both. To examine the effect of including or excluding the Unclear items, the DSM-5 algorithm was re-coded by considering Unclear items to be present. This was relevant because the DSM-5 allows criteria to be met by history, and allowing or disallowing the Unclear criteria is likely to be crucial in many adult cases where multiple informants are not available. It was hypothesized that, (a) prevalence of Childhood Autism or Asperger Syndrome diagnosed using ICD-10R criteria would be similar to that using DSM-IV-TR and DSM-5, (b) most participants diagnosed with ASD on the ICD-10R but not the DSM-5 would be diagnosed with SCD, and (c) altering the DSM-5 algorithm would have signicant effects on the rate of positive DSM-5 ASD diagnosis. Results Conclusions of Initial Diagnostic Assessments ICD-10R Versus DSM-5 (Table 1) Of the 150 participants, 113 (75 %) met criteria for an ASD according to the ICD-10R (Childhood Autism, Asperger Syndrome or PDD-unspecied). In contrast, however, according to the DSM-5, only 63 (42 %) met ASD criteria: this was a highly signicant decline, v 2 (1) = 35.6, p \0.001. A further 21 (14 %) participants met DSM-5 criteria for SCD. Overall, therefore, of those individuals positive for ASD on ICD-10R, 74 % (84 of 113) met criteria for ASD or SCD on DSM-5. Nevertheless, the proportion of individuals with no diagnosis at all (ASD or SCD) remained signicantly higher when applying the DSM-5 criteria instead of ICD-10R (v 2 (1) = 62.5, p \0.001). None of the participants that were ASD negative using ICD-10R met diagnostic criteria for ASD (or SCD) according to the DSM-5, thus specicity of the DSM-5 was 100 %. DSM-IV-TR Versus DSM-5 (Table 1) The rate of ASD positive diagnosis using DSM-5 (42 %) was also signicantly lower than the rate of Autistic Dis- order or Asperger Syndrome assessed using DSM-IV-TR (53 %), v 2 (1) [82.5, p \0.001. Additionally, two indi- viduals were diagnosed with ASD on the DSM-5, but not with Autistic Disorder or Asperger Syndrome on the 2518 J Autism Dev Disord (2013) 43:25152525 1 3 DSM-IV-TR, therefore specicity of the DSM-5 according to the DSM-IV-TR was 0.97. Agreement with ADI-R and ADOS-G Results (Table 2) Agreement between diagnosis according to the ICD-10R/ DSM-IV-TR/DSM-5 and outcomes of the ADI-R and ADOS-G was calculated where this information was available. When measured against results of the ADI-R, the sensitivity of the ICD-10R and the DSM-IV-TR was higher than the DSM-5 (respectively 0.97, 0.97 and 0.79; both McNemars p = 0.07), but their specicity was marginally lower. For the ADOS-G, sensitivity was also higher on the ICD-10R and the DSM-IV-TR than the DSM-5 (respec- tively 0.6, 0.7 and 0.5; McNemars p = 0.07/0.01) and specicity was very similar. Factors Affecting Agreement Between ICD-10R and DSM-5 Participant Characteristics: Age, Gender, IQ, Diagnostic Subtype and Additional Mental Health Conditions Of the participants that were ASD positive using the ICD- 10R, there were no differences with respect to age, gender or IQ (where available) for those individuals that were ASD positive versus negative on the DSM-5. There was, however, a signicant difference in rate of DSM-5 ASD positive diagnosis between ICD-10R sub- types, v 2 (2) = 31.58, p \0.001. Signicantly more par- ticipants diagnosed with ICD-10R Childhood Autism or Asperger Syndrome met DSM-5 criteria for ASD than those in the PDD-unspecied group (Table 3, Column A). The difference between ICD-10R dened Childhood Autism and Asperger Syndrome was not signicant, v 2 (1) = 1.64, p = 0.2. With respect to additional mental health conditions, a signicant difference was only found for OCD: higher rates of OCD were found in the group that were ASD positive on the DSM-5 than those that were ASD positive only on the ICD-10R, v 2 (1) = 4.58, p = 0.03 (Fig. 1). Table 1 Outcome of initial assessment of 150 participants according to the ICD-10R, and outcome of data re-coded according to DSM-IV- TR and DSM-5: % (N) Above/below ASD threshold Diagnosis of below ASD threshold participants ASD full- threshold Below ASD threshold PDD- unspecied or SCD No diagnosis ICD-10R, % (N) 51 (76) 50 (74) 25 (37) 25 (37) DSM-IV-TR, % (N) 53 (80) 47 (70) N/A N/A DSM-5, % (N) 42 (63) 58 (87) 14 (21) 44 (66) Table 2 Percentage of participants in each diagnostic group scoring above and below threshold on ADI-R and ADOS-G, and sensitivity and specicity of each diagnostic algorithm compared to ADI-R/ADOS-G. % (N) ADI-R below cut-off (%) a ADI-R above cut-off (%) a ADOS-G below cut-off (%) b ADOS-G above cut-off (%) b ICD-10R: Below ASD threshold (not ASD/PDD unspecied) 96 (27) 4 (1) 75 (35) 25 (15) ICD-10R: ASD (Asperger Syndrome/Childhood Autism) 36 (17) 64 (30) 32 (12) 68 (25) ICD-10R Sensitivity: 0.97* Specicity: 0.61 Sensitivity: 0.63* Specicity: 0.74 DSM-IV-TR: ASD negative 96 (27) 4 (1) 75 (36) 25 (12) DSM-IV-TR: ASD positive 36 (17) 64 (30) 28 (11) 71 (28) DSM-IV-TR Sensitivity: 0.97* Specicity: 0.61 Sensitivity: 0.70** Specicity: 0.77 DSM-5: ASD negative 83 (29) 17 (6) 64 (36) 36 (20) DSM-5: ASD positive 38 (15) 63 (25) 36 (11) 65 (20) DSM-5 Sensitivity: 0.81 Specicity: 0.66 Sensitivity: 0.50 Specicity: 0.77 * Difference between ICD-10R/DSM-IV-TR and DSM-5: McNemars p \0.1 ** Difference between ICD-10R/DSM-IV-TR and DSM-5: McNemars p \0.05 a ADI-R cut-off scores: Social = 10; Communication = 8; Repetitive behaviors/interests = 3 b DOS-G cut-off scores: Communication = 3; Social interaction = 6; Communication ? Social = 10 J Autism Dev Disord (2013) 43:25152525 2519 1 3 Finally, of the participants that were ASD positive using the ICD-10R, there was no signicant effect of using different ASD assessment tools (ADI-R, ADOS-G, or both) on the outcome of the DSM-5, v 2 (2) = 4.20, p = 0.12. Effects of Relaxing the DSM-5 Algorithm (Table 3, Column C) For the 113 participants that were ASD positive on the ICD-10R, the sensitivity of the DSM-5 increased signi- cantly (and specicity remained at 100 %) when thresholds for Criteria A or B, or both, were relaxed (all v 2 (1) [20.0, ps \.001). Of the 80 participants that were ASD positive on the DSM-IV-TR, sensitivity of the DSM-5 increased to 99 % when thresholds A and B were both relaxed, however specicity was signicantly reduced. Uncertainty on the DSM-5 Algorithm: ASD Diagnostic Outcome When Criteria Coded as Unclear Were Considered to Be Present Of the participants diagnosed with ASD on the ICD-10R, 74 % received a diagnosis of ASD on the DSM-5 when criteria that were Unclear were treated as Yes; this was a signicant increase from 56 % when Unclear was coded as No (v 2 (1) = 51.46, p \.001). Specicity remained at 100 %. Discussion This is the rst study to investigate how the DSM-5 cri- teria for ASD might perform in a specialist diagnostic clinic for adults without signicant intellectual disabil- itywho form a large proportion of individuals with ASD. Our ndings suggest that the specicity of the DSM-5 criteria, as compared to the currently used ICD-10R and DSM-IV-TR criteria, is good. However, sensitivity is rel- atively poor. For instance, 44 % of the participants that received a diagnosis of an ASD according to ICD-10R did not meet DSM-5 criteria. Similarly, 22 % of the individ- uals that met criteria for Asperger Syndrome or Autistic Disorder on DSM-IV-TR would not qualify for a DSM-5 Table 3 Percentage of participants that would be diagnosed with: (A) ASD on DSM-5; (B) Social Communication Disorder (SCD) on DSM-5; (C) ASD on DSM-5 if number of criterion required in Criteria A was reduced from 3 to 2, and/or the number of criterion required in Criteria B was reduced from 2 to 1 % (N) A B C ICD 10R/DSM-IV-TR diagnosis DSM-5 ASD DSM-5 SCD DSM-5 ASD: relax A DSM-5 ASD: relax B DSM-5 ASD: relax A and B ICD-10R, % (N) Not ASD, (N = 37) 0 0 0 0 0 ASD, (N = 113) 56 (63) 19 (21) 69 (78)** 70 (79)** 87 (98)** Childhood autism, (N = 28) 82 (23) 11 (3) 86 (24) 93 (26) 96 (27) Asperger Syndrome, (N = 48) 69 (33) 15 (7) 83 (40)* 83 (40)* 98 (47)** PDD-unspecied, (N = 37) 19 (7) 30 (11) 38 (14)* 35 (13)* 65 (24)** DSM-IV-TR, % (N) Not ASD, (N = 70) 3 (2) 13 (9) 14 (10)* 10 (7)* 27 (19)** ASD, (N = 80) 77 (61) 15 (12) 85 (68)* 90 (72)** 99 (79)** * Difference between full criteria and relaxed threshold: McNemars p \0.05 ** Difference between full criteria and relaxed threshold: McNemars p \0.001 Fig. 1 Percentage of participants in ICD-10R/DSM-5 diagnostic groups that met criteria for additional mental health conditions. GAD General Anxiety Disorder, OCD Obsessive Compulsive Disorder, ADHD Attention Decit Hyperactivity Disorder, None: No addi- tional/alternative mental health condition. *p \0.05; **p \0.01 2520 J Autism Dev Disord (2013) 43:25152525 1 3 diagnosis of ASD. This is consistent with the only previous study that investigated agreement between current and proposed ASD criteria in intellectually disabled adults with ASD (Matson et al. 2012), and is cause for concern since these individuals, who have genuine difculties and are most likely on the spectrum, may not be able to access services available to the ASD population if the DSM-5 is used to dene eligibility (i.e., if it is used as an entry criteria). The decline in sensitivity was highlighted when per- formance of each diagnostic algorithm was measured against results of gold-standard assessment tools. Both the ICD-10R and DSM-IV-TR had a 97 % chance of reporting a true ASD positive diagnosis according to the outcome of the ADI-R, and this fell to 81 % when using the DSM-5a marginally signicant decline. The chance of reporting a true negative, however, was slightly better when using the DSM-5 as compared to current diagnostic algorithms. Comparison with the ADOS-G revealed similar results, although there was a lower chance of true positives across all algorithms. It should be noted the ADI-R and ADOS-G were developed in order to align with the DSM- IV-TR, therefore the nding that the assessment tools t better with current algorithms than with the DSM-5 is not entirely unexpected. Nevertheless, disagreement between diagnostic algorithms and gold-standard research assess- ment tools may lead to confusion in both research and clinical settings, therefore revisions of the assessment tools is likely to be required for use in adult populations. Given the evidence that a signicant proportion of individuals currently considered to be on the autism spec- trum may not be included in the DSM-5 ASD category, it is important to clarify what factors are associated with the likelihood that an individual will meet criteria. Encourag- ingly, there was no evidence of an effect of age or sex on diagnostic outcome, suggesting no particular demographic is more or less likely to receive an ASD diagnosis. We also found no effect of IQ in the subset of participants for which this information was available. This subset was a fairly small group, therefore conclusions are drawn with caution, however the results show no indication that higher-func- tioning people are more likely to be missed by the proposed DSM-5 criteria than lower functioning peoplea concern which has been raised in recent studies with children (McPartland et al. 2012). In the current study, the difference in rate of DSM-5 ASD positive diagnosis between the ICD-10R subtypes of Childhood Autism and Asperger Syndrome was non-sig- nicant. This suggests that adults with an Asperger Syn- drome diagnosis will be at no greater risk of missing out on an ASD diagnosis when using DSM-5 than adults with Childhood Autism, and supports the DSM-5 proposal to combine these diagnoses into a single category. However, the third ICD-10R subtypePDD-unspeciedhad a signicantly lower rate of ASD diagnosis using DSM-5 than both of the other two diagnostic subtypes. This is not necessarily cause for concern: people with a PDD- unspecied diagnosis did not actually meet full diagnostic criteria on the ICD-10R eitherinstead they showed sig- nicant ASD traits and were considered to be on the spectrum. What is perhaps of concern is that a quarter of people with an ICD-10R ASD diagnosis would not qualify for either ASD or SCD on the DSM-5, and the majority of those affected were of the PDD-unspecied subtype. This is the rst study to report the proportion of people that would qualify for the new SCD diagnosis as currently drafted, but our results suggest this alternative category, which was intended to provide diagnostic coverage to many of those who will not qualify for the ASD diagnosis, may not solve the problem of the comparatively poor sensitivity of the DSM-5 relative to ICD-10R. The present data suggest that the sensitivity of the draft DSM-5 criteria, compared at least to ICD-10R and DSM- IV-TR, can be improved. Several authors have suggested that increased sensitivity without reduced specicity might be achieved by relaxing the proposed criteria (Frazier et al. 2012; Kapp and Neeman 2012; McPartland et al. 2012). Our results supported this: it was found that relaxing thresholds in DSM-5 for social communication and social interaction (Criteria A), and/or repetitive patterns of behaviour, interests, and activities (Criteria B) allowed the inclusion of almost all people currently diagnosed with Childhood Autism or Asperger Syndrome, and the majority of those with PDD-unspeciedwhile maintaining speci- city. Therefore relaxing one, or both, criteria will likely allow the inclusion of more people currently considered to be ASD using ICD-10R and DSM-IV-TR, without weak- ening the boundaries between ASD and non-ASD. In addition, clear guidance on how to deal with uncertainty in the DSM-5 classication system will be particularly important; the latest drafts of the DSM-5 criteria allow criteria to be met by history or current state, which may help where information is missing or uncertain. Rating criteria that were unclear as present versus absent had signicant effects on the rates of DSM-5 ASD diagnosis. While this is the rst study to examine the draft DSM-5 criteria in adults with ASD who do not have intellectual disabilities, some limitations should be noted. Like other studies comparing existing criteria to the DSM-5 draft, existing clinical notes and instruments that were used pri- marily for allocating current (ICD-10R) diagnostic cate- gories were analyzed. It remains to be seen whether using the DSM-5 criteria in the clinic during assessment in a prospective fashion would result in different ndings. For example, sensory sensitivities are not part of current clin- ical criteria and might be more thoroughly assessed in J Autism Dev Disord (2013) 43:25152525 2521 1 3 future in clinics where DSM-5 criteria are adopted. Nonetheless one potentially useful feature of the present study, in contrast to many others, is the relatively large number of participants (25 %) who were assessed for ASD but found to be negative using current criteria. This allowed examination of specicity of the different diag- nostic measures. Finally, it should be noted, of course, that it remains unclear whether existing ICD-10R or DSM- IV-TR criteria should be considered the gold-standard against which new criteria are compared; in the absence of biomarkers, the exact denition of ASD and its boundaries remain a matter for debate. Conclusions The specicity of the DSM-5 criteria, as compared to the currently used ICD-10R and DSM-IV-TR criteria is good but sensitivity is relatively low. This may be improved (without adversely affecting specicity) by relaxing DSM-5 criteria and by careful consideration of missing or uncertain symptom information. Acknowledgments Funding was provided by the Medical Research Council (MRC, UK), the EU Autism Imaging Study (AIMS) network (Grant Agreement: 115300), and the National Institute for Health Research Biomedical Research Centre for Mental Health at Kings College London, Institute of Psychiatry and South London and Maudsley National Health Service Foundation Trust. The authors wish to thank all the participants involved in this study. Also the administrative support staff at the Behavioural Genetics Clinic: Frances Harwood, Pauline Domingo and Marie Simpson. Appendix 1 ICD-10R algorithm, with corresponding DSM-IV-TR items provided alongside each criterion. Of the participants that were diagnosed with ASD on the ICD-10R, the pro- portion of participants that were coded Yes, No and Unclear for each item is given. ICD-10R Algorithm (Corresponding DSM-IV item provided for each criterion). ICD-10R: ASD positive group 1 Qualitative abnormalities in reciprocal social interaction are manifest in at least two of the following areas: Yes No Unclear a. Failure adequately to use eye-to-eye gaze, facial expression, body posture, and gesture to regulate social interaction DSM-IV-TR: 1a: Marked impairment in the use of multiple nonverbal behaviours such as eye-to- eye gaze, facial expression, body postures, and gestures to regulate social interaction. 78.8 13.3 8.0 Appendix continued ICD-10R Algorithm (Corresponding DSM-IV item provided for each criterion). ICD-10R: ASD positive group b. Failure to develop (in a manner appropriate to mental age, and despite ample opportunities) peer relationships that involve a mutual sharing of interests, activities, and emotions DSM-IV-TR: 1b: Failure to develop peer relationships appropriate to developmental level 92.0 3.5 4.4 c. Lack of socio-emotional reciprocity as shown by an impaired or deviant response to other peoples emotions; or lack of modulation of behaviour according to social context; or a weak integration of social, emotional, and communicative behaviours DSM-IV-TR: 1d: Lack of social or emotional reciprocity 79.6 7.1 13.3 d. Lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g. a lack of showing, bringing, or pointing out to other people objects of interest to the individual). DSM-IV-TR: 1c: a lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest) 38.1 24.8 37.2 2. Are there restricted, repetitive patterns of behavior, interests, and activities, as manifested by at least one of the following: Yes No Unclear a. A delay in, or total lack of, development of spoken language that is not accompanied by an attempt to compensate through the use of gesture or mime as an alternative mode of communication (often preceded by a lack of communicative babbling); DSM-IV-TR: 2a: delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime) 23.9 51.3 24.8 b. Relative failure to initiate or sustain conversational interchange (at whatever level of language skills is present), in which there is reciprocal responsiveness to the communications of the other person DSM-IV-TR: 2b: in individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others 94.7 0 5.3 c. Stereotyped and repetitive use of language or idiosyncratic use of words or phrases DSM-IV-TR: 2c: stereotyped and repetitive use of language or idiosyncratic language 38.9 50.4 10.6 d. lack of varied spontaneous make-believe or (when young) social imitative play DSM-IV-TR: 2d: lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level 51.3 24.8 23.9 3. Restricted, repetitive, and stereotyped patterns of behaviour, interests, and activities are manifest in at least one of the following areas: Yes No Unclear 2522 J Autism Dev Disord (2013) 43:25152525 1 3 Appendix continued ICD-10R Algorithm (Corresponding DSM-IV item provided for each criterion). ICD-10R: ASD positive group a. An encompassing preoccupation with one or more stereotyped and restricted patterns of interest that are abnormal in content or focus; or one or more interests that are abnormal in their intensity and circumscribed nature though not in their content or focus DSM-IV-TR: 3a: encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus. 66.4 20.4 13.3 b. Apparently compulsive adherence to specic, non-functional routines or rituals DSM-IV-TR: 3b: apparently inexible adherence to specic, nonfunctional routines or rituals 56.6 25.7 17.7 c. Stereotyped and repetitive motor mannerisms that involve either hand or nger apping or twisting, or complex whole body movements DSM-IV-TR: 3c: stereotyped and repetitive motor mannerisms (e.g. hand or nger apping or twisting, or complex whole-body movements) 17.7 65.5 16.8 d. Preoccupations with part-objects or non- functional elements of play materials (such as their odor, the feel of their surface, or the noise or vibration that they generate). DSM-IV-TR: 3d: persistent preoccupation with parts of objects 27.4 50.4 22.1 Appendix 2 DSM-5 algorithm indicating the proportion of participants diagnosed with ASD on the ICD-10R that were coded Yes, No and Unclear for each item. Criteria from ICD-10R that contribute to each DSM-5 criterion are indicated, and underlined sections indicate sections not explicitly in ICD-10R criteria. DSM-5 Algorithm ICD-10R: ASD positive group Criteria from ICD-10R CRITERION A: Are there persistent decits in social communication and social interaction across contexts, not accounted for by general developmental delays, and manifest by ALL THREE of the following: Yes No Unclear Appendix continued DSM-5 Algorithm ICD-10R:ASD positive group 2b; 1c; 1d 1. Decits in social- emotional reciprocity; ranging from abnormal social approach and failure of normal back and forth conversation/ through reduced sharing of interests, emotions, and affect and response to total lack of initiation of social interaction? 94.7 1.8 3.5 1a; 2. Decits in nonverbal communicative behaviors used for social interaction; ranging from poorly integrated- verbal and nonverbal communication, through abnormalities in eye contact and body-language, or decits in understanding and use of nonverbal communication, to total lack of facial expression or gestures? 80.5 13.3 6.2 1b; 2d (but must be shared imaginative play) 3. Decits in developing and maintaining relationships, appropriate to developmental level (beyond those with caregivers); ranging from difculties adjusting behavior to suit different social contexts through difculties in sharing imaginative play and in making friends to an apparent absence of interest in people? 93.8 2.7 3.5 CRITERION B: Are there restricted, repetitive patterns of behavior, interests, and activities, as manifested by AT LEAST TWO of the following: Yes No Unclear 2c; 3c; 3d 1. Stereotyped or repetitive speech, motor movements, or use of objects (such as, simple motor stereotypies and echolalia, repetitive use of objects, or idiosyncratic phrases)? 54.9 33.6 11.5 J Autism Dev Disord (2013) 43:25152525 2523 1 3 Appendix continued DSM-5 Algorithm ICD-10R:ASD positive group 2c; 3b 2. Excessive adherence to routines, ritualized patterns of verbal or nonverbal behavior, or excessive resistance to change (such as, motoric rituals, insistence on same route or food, repetitive questioning, or extreme distress at small changes)? 57.5 25.7 16.8 3a; 3d 3. Highly restricted, xated interests that is abnormal in intensity or focus (such as, strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests)? 66.4 22.1 11.5 3d 4. Hyper- or hypo- reactivity to sensory input or unusual interest in sensory aspects of environment (such as, apparent indifference to pain/heat/cold, adverse response to specic sounds or textures, excessive smelling or touching of objects, fascination with lights or spinning objects)? 18.6 31.0 50.4 References Abramowitz, J. S., & Deacon, B. J. (2006). Psychometric properties and construct validity of the Obsessive-compulsive Inventory- Revised: Replication and extension with a clinical sample. 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