This presentation reviews past and current diagnostic classification approaches to autism (and pervasive developmental disorders) discussed in the March 12, 2013 webinar. Michael Troy, Ph.D. discussed the changes planned for inclusion in the DSM-5 when it is published in May 2013. Changes in nomenclature (Autism Spectrum Disorder) and diagnostic criteria are highlighted.
1. Autism Spectrum Disorders:
Diagnostic Changes in DSM-5
Michael Troy, Ph.D., L.P.
Children’s Hospitals and Clinics of
MN
March 12, 2013
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2. Autism Spectrum Disorders:
Diagnostic Changes in DSM-5
“Whenever we have made a word… to
denote a certain group of phenomena,
we are prone to suppose a substantive
entity beyond the phenomena.”
~ William James (1890) ~
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3. A Rose By Any Other Name?
• Pervasive Developmental • Autism
Disorders (PDD) • Autism Spectrum
• Autistic Disorder Disorders (ASD)
• Asperger’s Disorder • High Functioning
• PDD-NOS Autism (HFA)
• Atypical Autism
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4. Descriptive & Diagnostic Nomenclature
• Are all these terms interchangeable?
• Why did a shadow nomenclature develop?
• Does the cut-off point for diagnosis reflect a
true junction or an arbitrary discontinuity
(cleaving nature at the joint vs. cleaving meatloaf)?
• What are the consequences of invalid
categorical labeling? Does it matter? Why?
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5. Diagnostic Classification
For example:
Asperger’s Disorder vs. High Functioning Autism
•More of a debate than formal distinction
•HFA implies that there is an autism continuum
from mild to severe and that either:
– Asperger’s exists and HFA is different, or
– Asperger’s and HFA are basically the same thing
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6. Diagnostic Classification
• Medical vs. Mental Health
• Categorical vs. Dimensional
• Mental Health Diagnostic Classification:
A ‘Useful Fiction’
• DSM-IV >> DSM-5: Process, Politics,
Research, and Practice
• *Revision of DSM Autism Diagnosis: Battle of
the ‘Splitters’ vs. the ‘Lumpers’
*Note: The Lumpers are winning
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7. Relevant Developmental Tasks and Challenges
– Social cognition
– Theory of Mind
– Affective social competence
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8. Pervasive Developmental Disorders (DSM-III-R,1987-93)
Autistic
Disorder
Pervasive
Developmental
Disorder-NOS
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9. Pervasive Developmental Disorders (DSM-IV)
Autistic
Disorder
Asperger’s
Disorder
Pervasive Developmental
Disorder-NOS
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10. Pervasive Developmental Disorders (DSM-IV)
Autistic
Childhood
Disorder
Rett’s
Disintegrative
Disorder
Disorder
Asperger’s
Disorder
Pervasive Developmental
Disorder-NOS
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11. Severe
Fragile X
Receptive/Expressive
Cognitive Delay with Language Disorder
Behavior Disorders
Autistic Nonverbal LD
Disorder
Childhood
Disintegrative Rett’s
Disorder Disorder
Asperger’s
Disorder
Pervasive Developmental
Disorder-NOS
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14. Autism Spectrum Disorder in the DSM
• Currently in DSM-IV:
– Pervasive Developmental Disorders
• Autism
• Asperger Syndrome
• Other specific disorders
• PDD-NOS
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15. Autism Spectrum Disorder in the DSM
DSM-5
– New Name: Autism Spectrum Disorder
– Includes DSM IV’s Autistic Disorder (autism),
Asperger’s Disorder, Childhood Disintegrative
Disorder, & PDD-NOS (Rett’s is dropped)
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16. Autism Spectrum Disorder in the DSM
• Rationale for DSM-5 Changes:
– Differentiation of autism spectrum disorders
from typical development & other disorders
done reliably and with validity;
– While within category distinctions
inconsistent, variable, and often associated
with severity, language level or intelligence
rather than features of the disorder
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17. DSM IV Diagnostic Criteria
Autistic
Disorder
Asperger’s
PDD-NOS
Disorder
Social Interaction (2)
Communication (1)
Restricted & Repetitive Behavior 1)
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18. DSM-5 Diagnostic Criteria
Autism Spectrum
Disorders
Social/Communication Deficits (3)
Fixated Interests & Repetitive Behavior (2)
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19. Diagnostic Criteria in DSM
• Currently in DSM-IV:
– Qualitative impairment in social interaction (2)
– Qualitative impairment in communication (1)
– Restricted, repetitive behaviors (1)
• DSM-5:
– Social/communication deficits (3)
– Fixated interests and repetitive behaviors (2)
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20. Diagnostic Criteria in DSM-5
A. Social/communication deficits (All 3)
– Deficits in social-emotional reciprocity
– Deficits in nonverbal communicative behaviors
used for social interaction
– Deficits in developing and maintaining
relationships, appropriate to developmental level
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21. Diagnostic Criteria in DSM-5
B. Fixated interests and repetitive, restricted
behaviors (at least 2)
– Stereotyped or repetitive speech, motor movements,
or use of objects
– Excessive adherence to routines, ritualized patterns
of verbal or nonverbal behavior, or excessive
resistance to change
– Highly restricted, fixated interests that are abnormal
in intensity or focus
– Hyper-or hypo-reactivity to sensory input or unusual
interest in sensory aspects of environment
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22. Diagnostic Criteria in DSM-5
C. Symptoms must be present in early
childhood (but may not become fully
manifest until social demands exceed limited
capacities)
D. Symptoms together limit and impair
everyday functioning.
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23. Diagnostic Criteria in DSM-5
Severity Level
Social Communication Restricted interests & repetitive behaviors
for ASD
Severe deficits in verbal & nonverbal Preoccupations, fixated rituals and/or repetitive
Level 3 social communication causing severe behaviors markedly interfere with functioning in all
‘Requiring very impairments in functioning; very limited spheres. Marked distress when rituals or routines are
substantial support’ initiation of social interactions & interrupted; very difficult to redirect from fixated interest
minimal response to social overtures. or returns to it quickly.
Marked deficits in verbal and nonverbal
RRBs and/or preoccupations or fixated interests
social communication; social
appear frequently enough to be obvious to the casual
Level 2 impairments apparent even with
observer and interfere with functioning in a variety of
‘Requiring supports; limited initiation of social
contexts. Distress or frustration is apparent when
substantial support’ interactions & reduced or abnormal
RRB’s are interrupted; difficult to redirect from fixated
response to social overtures from
interest.
others.
Without supports in place, deficits in
social communication cause noticeable
impairments. Difficulty initiating social Rituals and repetitive behaviors (RRB’s) cause
Level 1 interactions & demonstrates atypical or significant interference with functioning in one or more
‘Requiring support’ unsuccessful responses to social contexts. Resists attempts by others to interrupt RRB’s
overtures of others. May appear to or to be redirected from fixated interest.
have decreased interest in social
interactions.
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24. Diagnostic Criteria in DSM-5
– Additionally, to ensure that etiology is indicated,
where known, clinicians encouraged to utilize the
specifier:
“Associated with Known Medical Disorder or
Genetic Condition”
– In this way, it will be possible to indicate that a
child with ASD has Fragile X syndrome, Tuberous
Sclerosis, 22q deletion, etc.
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25. Potential consequences?
• Possibly fewer individuals diagnosed with ASD (but why?)
• Severe, classic autism clear to all; but at the milder end of
the spectrum, the boundaries are fuzzy.
• It’s at this milder end of the boundary that rates may drop
(e.g., Asperger’s vs. Autism)
• Interventions may then be targeted to more severely-
disabled individuals
• Possible changes to:
– Access to educational and other services
– Support services for individuals and families
– Advocacy groups
– Self understanding
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26. Potential Response to Concerns
Allan Frances, MD (Duke U, DSM-IV) … How can we achieve
a more precise diagnosis of autism AND not deprive
services for those who need them?
– Decouple school services from the DSM diagnosis of autism.
– Instead of DSM diagnosis, the child's specific learning and
behavioral problems should guide eligibility and
individualized planning
– Children who now get inappropriately labeled autistic should
lose the inaccurate diagnosis, but not lose the needed
services.
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27. Letter on DSM-5
February 2, 2012
Autism Speaks is concerned that planned revisions to the definition of
autism spectrum disorder (ASD) may restrict diagnoses in ways that
may deny vital medical treatments and social services to some people on
the autism spectrum. These revisions concern the 5th edition of the
Diagnostic and Statistical Manual of Mental Disorders (DSM-5),
scheduled for publication in spring 2013.
We have voiced our concerns and will continue to directly communicate
with the DSM-5 committee to ensure that the proposed revision does not
discriminate against anyone living with autism. While the committee
has stated that its intent is to better capture all who meet current
diagnostic criteria, we have concluded that the real-life impact of the
revisions has, to date, been insufficiently evaluated. ……..
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28. Summary
• Autism is a spectrum disorder
• Ergo, Autism Spectrum Disorder
• This means that symptoms can present in
wide variety of combinations and from mild to
severe.
• New criteria meant to improve discriminant
validity, while reflecting within category
heterogeneity
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29. Descriptive & Diagnostic Nomenclature
• Are all these terms interchangeable? No
• Why did a shadow nomenclature develop? A
veridicality gap…
• Does the cut-off point for diagnosis reflect a
true junction or an arbitrary discontinuity
(cleaving nature at the joint vs. cleaving meatloaf)?
Meatloaf is meatloaf… but it’s not chicken
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30. Descriptive & Diagnostic Nomenclature
• What are the consequences of invalid
categorical labeling? Does it matter? Why?
– It’s hard to have our diagnostic decision making
more clear than diagnostic system.
– Yes
– See slides 1 – 28…
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32. ASD: Consensus & Trends
• Developmental Course
– Characteristic symptoms generally evident between 2 & 4
– Almost always a lifelong disorder
– Involving neurological, social communication & interactions,
and behavioral domains
– Higher functioning end of spectrum may not be evident until
social demands are developmentally relevant
• Autism recognized as a ‘spectrum disorder’
– Family patterns, severity variations
• Prevalence 1 in 110 (CDC average) or 1% of the population
– Puzzle of “rising prevalence”; some arguing for higher
prevalence rates
– Male: Female ration 4/5:1
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33. ASD: Consensus & Trends
• Recognized as early emerging disorder of brain development
– ASDs among most highly heritable of psychiatric disorders
– Complex G x E processes suspected
– Many theories about E factors
– Hunt on for biomarkers and neurodevelopmental processes
• Physiological Hypotheses (examples)
– Extreme male brain theory: focus on sex-linked dimensions of
brain functioning
– Growth dysregulation hypothesis: suggests that atypical processes
of brain growth & organization lead to the primary symptoms of
autism
• Early diagnosis and intervention becoming gold standard
– Behavioral intervention has strong evidence of efficacy
– The most successful interventions are those that are delivered
early and intensively across a variety of domains of functioning
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35. Autism Spectrum Disorder
‘Six Developmental Trajectories Characterize
Children with Autism’
PEDIATRICS 129(5), May 2012
•Large, longitudinal study of autism developmental trajectories
•Describes 6 specific trajectories, across 3 core symptom
domains (Communication, Social, Repetitive Behaviors)
•For example, ‘Bloomers’ vs. ‘High’ vs. ‘Low’
•Reflects the significant heterogeneity of symptom patterns and
outcomes
•And, presumably, etiology
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38. Courschesne et al
• Is abnormal growth in brain
development the neural
basis for autism?
• Evidence of age-specific
anatomical abnormalities
• Early excess of neurons
• That must begin prenatally
• Later remodeling (pruning)
gone awry as well
• Continued changes with age
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Notes de l'éditeur
Three diagnostic domains become two Deficits in communication and social behaviors are inseparable and more accurately considered as a single set of symptoms with contextual and environmental specificities Delays in language are not unique nor universal in ASD and are more accurately considered as a factor that influences the clinical symptoms of ASD, rather than defining the ASD diagnosis Requiring both criteria to be completely fulfilled i mproves specificity of diagnosis without impairing sensitivity Providing examples for subdomains for a range of chronological ages and language levels increases sensitivity across severity levels from mild to more severe, while maintaining specificity with just two domains
’
Klin, A., Jones, W., Schultz, R., Volkmar, F., & Cohen, D. (2002). Archives of Gen Psychiatry, 59,809-816. Ristic et al., 2005
Klin, A. (2002). Asperger syndrome: Clinical features, assessment, and intervention. Clinical presentation to MN Association of Child Psychologists, Minneapolis, MN.
2001 Courchesne, E., Karns, C., Davis, H.R., Ziccardi, R., Tigue, Z., Pierce, K., Moses, P., Chisum, H.J., Lord, C., Lincoln, A.J., Pizzo, S., Schreibman, L., Haas, R.H., Akshoomoff, N., Courchesne, R.Y. Unusual brain growth patterns in early life in patients with autistic disorder: An MRI study . Neurology, 57:245-254, 2001. 2011 Courchesne E, Mouton PR, Calhoun ME, Semendeferi K, Ahrens-Barbeau C, Hallet MJ, Barnes CC, Pierce K. Neuron number and size in prefrontal cortex of children with autism . JAMA. 2011 Nov 9;306(18):2001-10. PubMed PMID: 22068992 - Courchesne, E., Campbell, K., Solso, S. Brain growth across the life span in autism: Age-specific changes in anatomical pathology . Brain Research, 1380:138-45, 2011