DSM-5autism.txt

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DSM-5 and 
Autism 

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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 


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�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 












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�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 
















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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 








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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 


















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Reliability vs. Validity 

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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 





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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 





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From autism to Asperger�s 
Disorder 

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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 



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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. 




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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 






 

 

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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 




 

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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 





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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 


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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 




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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 



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DSM-5 diagnostic 
simplicity McPartland JAACAP, 2012;51(4)368-383. 

DSM-IV 

2,027 different 
combinations 

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DSM-5 only has 11 
different ways to 
meet diagnosis 

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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. 









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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 









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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 





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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. 













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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 



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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 




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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. 














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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 



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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 


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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 



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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. 

 


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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. 

 

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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. 










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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 




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DSM-5 Workgroup response 

.Expanded examples of criteria 
.Symptoms may be counted if observed or historical 


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Finding the right balance 

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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 



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Pros of DSM-5 and autism 

.Increased homogeneity 
.Longitudinal research 
.Endophenotypes 
.Genotypes 


.Reflects evolution of research 
.DSM-IV symptoms map to DSM-5 



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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 


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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? 



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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 



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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 



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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 












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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. 






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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 



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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. 







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FRAP! 
Frenetic 
random 
acts of 
play 

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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