Interior-Overlay.png DSM-5 and Autism IMG_3422.JPG Changes are in the air W.David Lohr, M.D. Assistant Professor Child Psychiatry Co-Clinical Director University of Louisville Autism Center University of Louisville School of Medicine wdlohr01@louisville.edu 502-852-6941 Interior-Overlay.png “New Definition of Autism Will Exclude Many, Study Suggests” .“proposed changes in the definition of autism would sharply reduce the skyrocketing rate at which the disorder is diagnosed” .“proposed changes would probably exclude people with a diagnosis who were higher functioning” .“experts…strongly disagree” .“I don’t know how they’re getting those numbers”, Catherine Lord •New York Times, Jan 19, 2012 by Benedict Carey prize-fight.jpg Interior-Overlay.png “New Definition of Autism Will Exclude Many, Study Suggests” .“45% of children and adults with higher functioning autism will qualify for proposed DSM-5 criteria” .Access to services may be threatened .Increased clarity •New York Times, Jan 19, 2012 by Benedict Carey feeling_left_out_in_the_cold_card-p137496464913272970q6ay_400.jpg Interior-Overlay.png prevalence-graph1.jpg Interior-Overlay.png Prevalence continues to grow .Current CDC estimates 1 in 88 children aged 8 years have an autism spectrum disorder .1 in 54 boys .1 in 252 girls •(March 30 issue of CDC publication Morbidity and Mortality Weekly Report). MMWR 2012; 61:1-24. .Reasons for increase .Awareness .Newer community studies .Better methods rock_bugs.jpg Interior-Overlay.png Definitions .Sensitivity .Measures a test’s ability to find those patients with a disease .If a person has a condition, how often will the test find it .Finds true positives .Specificity .Measures a test’s ability to identify those patients without a disease .If a person is healthy, how often will the test find it .Finds true negatives •wikipedia.org Definition-essay.jpg Interior-Overlay.png contingency table.gif Interior-Overlay.png Reliability vs. Validity validity-and-reliability.jpg Interior-Overlay.png History of DSM and autism .Autism was first recognized in DSM-III .Monothetic (individuals had to meet all diagnostic criteria) .Classical autism .Emphasis on categories not etiology Interior-Overlay.png History of DSM and autism .DSM-III-R .Developmental orientation .Polythetic (individuals could meet a specific number of sub-criteria from a set of criteria) .Broader diagnostic group Interior-Overlay.png Interior-Overlay.png From autism to Asperger’s Disorder olorosowithwater.IMGP0487.jpg Interior-Overlay.png DSM-IV criteria for Asperger’s Disorder .Impaired social interaction, with at least two of four criteria .Restricted, repetitive, and stereotypical behaviors and interests with at least one of four criteria .significant impairment in important areas of function .no overall delay in language .no significant delay in cognitive development, (mental retardation), or in adaptive skills .criteria are not met for autism or schizophrenia Interior-Overlay.png Problems with DSM-IV and autism .Reliability .Best-estimate clinical diagnoses compared to those using ADI-R and ADOS .Experts differ on how they interpreted DSM-IV-TR data .Regional differences .Influenced by verbal IQ and language .DSM-IV is difficult to implement .Lord C, et al. Arch Gen Psychiatry. 2012;69(3):306-313. manvsmachine-thumb.jpg Interior-Overlay.png Problems with DSM-IV and autism .Validity Happe. JAACAP. Jun 2011;50(6):540-542. .Asperger’s disorder may not be distinct from high- functioning autism .No effect on outcome, Howlin, et al., J Autism Dev Disord. Feb 2003;33(1):3-13. .Difficult to retrospectively measure language delays by age 3 years. .Limited neuropsychological distinctions from autism .Precedence rule .PDD-NOS .Residual category .Poorly defined, poor reliability of diagnosis validity.gif Interior-Overlay.png DSM-5 criteria for Autism Spectrum Disorder .A. Persistent deficits in social communication and social interaction across multiple contexts, as manifest by the following, currently or by history: .1. Deficits in social-emotional reciprocity .2. Deficits in nonverbal communicative behaviors used for social interaction .3. Deficits in developing and maintaining, and understanding relationships dsm-5_3d.gif Interior-Overlay.png DSM-5 criteria for Autism Spectrum Disorder .B. Restricted, repetitive patterns of behavior, interests, or activities, as manifest by at least two of the following, currently or by history. .1. Stereotyped or repetitive motor movements, use of objects, or speech . 2. insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behavior .3. Highly restricted, fixated interests that are abnormal in intensity or focus .4. Hyper-or hypo-reactivity to sensory input or unusual interest in sensory aspects of environment Interior-Overlay.png DSM-5 criteria for Autism Spectrum Disorder revised .C. Symptoms must be present in early developmental period childhood (but may not become fully manifest until social demands exceed limited capacities) .D. Symptoms cause clinical significant impairment in function dsm-5_3d.gif Interior-Overlay.png Severity level for ASD Social communication Restricted interests and repetitive behavior Level 3 (requiring very substantial support) Severe deficits with very limited initiation of social interactions and minimal response to social overtures from others. markedly interfere with functioning in all spheres. Marked distress, very difficult to redirect. Level 2 (requiring substantial support) Marked deficits with limited initiation of social interactions and reduced or abnormal response to social overtures from others. obvious interference with functioning , Distress or frustration is apparent, difficult to redirect Level 1 (requiring support) Without supports in place, deficits in social communication cause noticeable impairments. significant interference with functioning in one or more contexts. Resists interruption or redirection Interior-Overlay.png Summary of DSM-5 changes for Autism .Autism, Asperger’s disorder, and PDD-NOS will be combined into a single category .Monothetic for social-communication symptoms .Combines DSM-IV criteria for social interaction and impairments of communication .Polythetic for restricted, repetitive behaviors .2 of 4 symptoms must be present .Sensory symptoms are included .Universal age onset by early childhood Interior-Overlay.png DSM-5 diagnostic simplicity McPartland JAACAP, 2012;51(4)368-383. DSM-IV 2,027 different combinations whopper.jpg DSM-5 only has 11 different ways to meet diagnosis hamburger.jpg Interior-Overlay.png Goals for DSM-5 and autism .Recognize “essential shared features” of ASD .Clearer, simpler diagnosis .Failure of social communication development .Combine categorical and dimensional measures .Individualized diagnosis .Reintegrate Asperger’s disorder and PDD-NOS into ASD .Happe. JAACAP. Jun 2011;50(6):540-542. Interior-Overlay.png DSM-5 Neurodevelopmental Disorders Workgroup .13 members chaired by Susan Swedo, M.D. .Chief, Pediatrics & Developmental Neuroscience Branch, NIMH .Over 6,000 hours of meetings and teleconferences .Formulate draft criteria .Field trials and data collection .Revision of draft criteria due Spring 2012 .Public feedback and APA processing .Final draft data due December 31, 2012 with release date set for May 18-22, 2013 Interior-Overlay.png DSM-IV-TR vs. DSM-5 .5,484 8-year olds in Finland rated for autism .82 subjects with autism found by DSM-IV criteria .DSM-5 less sensitive for Asperger’s disorder and high- functioning autism .46% identification rate in those with an IQ > 50. .None of the 11 patients with Asperger’s were seen •Mattila et al. JAACAP. Jun 2011:50(6):583-592. .Early more stringent version of DSM-5 Interior-Overlay.png DSM-IV-TR vs. DSM-5 .DSM-5 had Improved “construct validity” over DSM- IV-TR .708 subjects from autism specialty clinic, 3Di . removes .“Stereotyped and repetitive use of language” .“Lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level” .Adds “Hyper-or hypo-reactivity to sensory input or unusual interest in sensory aspect of environment” •Mandy et al. JAACAP, 2012;51(1):41-50. Interior-Overlay.png DSM-5 validated Frazier et al. JAACAP. Jan 2012;51(1):28-40. .14,744 siblings from the Interactive Autism Network .Hybrid model of categorical and dimensional criteria supported .“superior specificity” .At risk for false negative .Females .Asperger’s disorder DSM-IV-TR DSM-5 Sensitivity 0.95 0.81 Specificity 0.86 0.97 IAN.jpg Interior-Overlay.png Sensitivity and Specificity of DSM-5 criteria McPartland et al. JAACAP, 2012;51(4)368-383. .933 patients evaluated from DSM-IV field trial exposed to DSM-5 criteria .Overall 60% of cases with ASD met revised DSM-5 criteria .Overall specificity was 94.9% Diagnosis Sensitivity Autism 0.76 Asperger’s disorder 0.25 PDD-NOS 0.28 IQ < 70 0.70 IQ > 70 0.46 Interior-Overlay.png News and Views .DSM-5 results in 30-45% fewer children, adolescents, and adults diagnosed with ASD than DSM-IV-TR •Matson, et al. J Autism Dev Disord. Aug 2012; 42(8):1549-1556. .10% of those with autism, 16.6% of those with Asperger’s disorder, and 50% of those with PDD-NOS will not meet criteria for ASD with DSM-5 •Gibbs, et al. J Autism Dev Disord. Aug 2012; 42(8):1750-1756. S.gif Interior-Overlay.png DSM-5 vs. DSM-IV Huerta, et al., Am J Psychiatry 2012:169:1056-1064 .Data set of 4,453 children assessed with ADOS and ADI-R .Overall sensitivity of 0.91 comparable to DSM-IV .Lowest sensitivity for Asperger’s disorder was 0.69 .specificity of 0.53 better than DSM-IV .Specificity improved when both parent report and clinical observation was required to identify impaired social reciprocity and nonverbal behavior .Most children will remain eligible for ASD diagnosis Interior-Overlay.png vvv Interior-Overlay.png The view .All of the studies have been retrospective in nature .Larger samples sizes support DSM-5 .Only Heurta, et al., matched a sample to both DSM- IV-TR and DSM-5 .Prospective field trials are the only answer images.jpeg DownloadedFile.jpeg Interior-Overlay.png steady-hand.jpg Interior-Overlay.png DSM-5 criteria for Social communication disorder .Difficulties in verbal and nonverbal communication .Deficits in use of communication for social purposes .Inability to match context or needs of the listener .Poor ability to follow rules of conversation and storytelling .Poor understanding of nuances, humor, sarcasm .Causes dysfunction in social, academic, or occupational settings .Early developmental onset .Not explained by autism or ID Interior-Overlay.png Proposed Modifications to DSM-5 DSM-5 draft criteria Suggested changes Must meet all 3 criteria for social communication and interaction May meet 2 of 3 criteria for social communication and interaction “deficits in nonverbal communication” “deficits in verbal and/or nonverbal communication” “Excessive adherence to routines and rituals” “excessive adherence to routines and/or rituals” “symptoms must be present in early childhood” “symptoms present in childhood” Mattila et al. JAACAP. Jun 2011:50(6):583-592. Interior-Overlay.png Increased sensitivity with modification DSM-5 criteria Modified criteria Autism Spectrum Disorders, FSIQ > 50 46%, (n=26) 96% High functioning autism (FSIQ > 70) 73%, (N=11) 100% Asperger’s disorder 0%, (n=11) 91% Mattila et al. JAACAP. Jun 2011:50(6):583-592. cast-a-wide-net.jpg Interior-Overlay.png Proposed Modifications to DSM-5 .Relaxing DSM-5 criteria with one less SCI or RRB criterion may increase sensitivity by 11% to 12% .Useful impact on those with Asperger’s disorder .Patients with limited early childhood history •Frazier et al. JAACAP. Jan 2012;51(1):28-40. .Supported by Huerta, et al. 2012 .“symptoms must be present in early childhood” should be modified to allow children or adults without accurate early history can be diagnosed .Wing et al. Res Dev Disabil. Mar-Apr 2011;32(2):768-773. cs-cart-modifications.jpg Interior-Overlay.png Proposed Modifications to DSM-5 .Relax SCI criteria to allow 2 of 3 criteria to be used .AND Lower RRB threshold from 2 to 1 •McPartland JAACAP, 2012;51(4)368-383. DSM-5 Relaxed SCI criteria AND Lowered RRB threshold sensitivity 0.61 0.75 0.91 specificity 0.95 0.85 0.75 Interior-Overlay.png DSM-5 Workgroup response .Expanded examples of criteria .Symptoms may be counted if observed or historical Email-Reply-icon.png Interior-Overlay.png Finding the right balance mushroomseesaw.jpg Interior-Overlay.png Pros of DSM-5 and autism .Improved specificity .Stability .Clarity .Dimensional approach .Core issue of autism = social communication deficits .Genetic influence .Normal distribution in population .Measures of severity Interior-Overlay.png Pros of DSM-5 and autism .Increased homogeneity .Longitudinal research .Endophenotypes .Genotypes .Reflects evolution of research .DSM-IV symptoms map to DSM-5 Interior-Overlay.png Cons of DSM-5 and autism .Decreased sensitivity .Those with high functioning autism and Asperger’s disorder may not meet criteria for DSM-5 .Social communication disorder .Effect on service eligibility .Compatibility with prior research subtypes .Fit with ICD-11 DownloadedFile-1.jpeg Interior-Overlay.png Concerns with social communication disorder .Is it valid? .What does it mean? .How to operationalize the diagnosis? .Will it cover services? .What about those with more RRB than SCI? Interior-Overlay.png NIMH Research Domain Criteria, RDoC .DSM-5 vs. NIMH .DSM-5 is a consensus document .Diagnosis is based on clusters of clinical symptoms .RDoC looks for biomarkers .Mental disorders are biologic disorders .Genetics, imaging, cognitive science .RDoc will provide framework to collect data for new classification system Interior-Overlay.png Future Directions .Prospective field studies .Phase II testing .Compare DSM-5 vs. DSM-IV and DSM-5 vs. expert clinical diagnosis .Define social communication disorder Interior-Overlay.png DSM-5 field trial: study design .Estimated reliability and validity of diagnoses .Informed DSM-5 decision-making process .Test-retest design .Naturalistic design .DSM-IV field trials .best case scenarios •Clarke, et al., Am J Psychiatry 2013;170:43-58 Imported Photos 00243.jpg Interior-Overlay.png DSM-5 test-retest reliability for autism .Intraclass kappa shows very good, (0.69) reliability .Slight decrease in prevalence of autism spectrum rates .Due to diagnosis of social communication disorder .Regier, et al., Am J Psychiatry 2013;170:59-70. miramar_morguefile.jpg Interior-Overlay.png Future Directions .Search domains of social communication and repetitive, restricted behaviors .Isolate endophenotypes .Find biologic and genetic markers .Suitable instruments to measure social communicative function Interior-Overlay.png The nature of autism .Lumpers .Population distribution of social function .Rates in twins and siblings .Splitters .Latent symptoms .Brain development .Hybrid model .Supported by recent validity studies by Mandy et al. and Frazier et al. Interior-Overlay.png FRAP! Frenetic random acts of play IMG_3428.JPG W.David Lohr, M.D. Assistant Professor Child Psychiatry Department of Pediatrics Co-Clinical Director University of Louisville Autism Center University of Louisville School of Medicine wdlohr01@louisville.edu 502-852-6941