DSM-5 Diagnostic Criteria for AutismSpectrum

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DSM-5 & ASD: Criteria
and Controversies
Judith Aronson-Ramos, M.D.
www.draronsonramos.com
Objectives
Review key differences in DSM-IV vs. 5
Examine the rationale for changes to
diagnostic criteria for ASD
Discuss potential impact of these changes
on clinical medicine and areas of controversy
Offer a Developmental Pediatrician’s
perspective on DSM 5
Background of DSM
DSM reflects consensus of multidisciplinary researchers
worldwide – led by APA – original goal was a paradigm shift
with greater focus on neuroscience – however data was
insufficient for radical change
Participation is voluntary with exclusion of individuals with a
conflict of interest - still highly politicized (vs. medical)
process.
Final DSM 5 a compromise not significantly different except for
“dimensionalization” (mental disorders exist along a continuum
with normality) - the challenge when ASD is mild
Future hope is this model will be supported by eventual discovery
of biological markers and endophenotypes – without reducing
everything to neuroscience
Changes in DSM drive development of therapeutics, areas of
research, diagnostic instruments, and insurance reimbursement
- risk of over inclusion and over diagnosis serving corporate and
public interest –pathologizing the subclinical
Assumptions of DSM 5 Workgroup
 As a behavioral diagnosis autism requires more specific
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examples and precise descriptions including sensory (Lord).
The diagnosis needs to be consistent across settings with good
reliability and validity -hence, the challenge of an emphasis on
both unifying principals and heterogeneity (a spectrum).
A diagnosis is more than a single checklist, observation,
assessment, or interview. We need to be as comprehensive as
possible with info. from multiple sources across settings.
There is no biomarker or medical test (CMA can be helpful)
Goal is not to deny services, but improve consistency of
diagnosis by providing a better framework useful for all
ages, developmental levels, gender, and severity .
Deficits in communication and social behaviors are
inseparable and integral, they are more accurately
considered as a single set of symptoms –
social/communication criteria (3/3)
Unanswered Questions??
 Was DSM 5 necessary right now?
 Would it have been better to wait for
breakthroughs in the pathogenesis and
neuroscience underlying symptoms?
 Is DSM 5 an improvement?
 Effects on clinical diagnoses? Over or under
inclusion
 Effects on research?
 Will Aspergers and cognitively and verbally
able individuals with autism still qualify?
Problems with PDDs in DSM IV
 Inconsistencies in diagnosing autism -who and where dx is
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made more predictive than clinical presentation
Diagnostic substitution due to stigma – use of PDD-NOS &
Aspergers instead of Autism
Expressive language delay not unique to ASD
Descriptions of play vague and ambiguous ( i.e.. lack of
imagination and creativity )
DSM IV criteria didn’t adequately capture presentation in :
 Very young (15-24 mo) – “failure to develop peer relationships
appropriate to developmental level”
 Older children (many in this group have a lot of
compensatory skills)
 Adults
 Females
Critical Changes & Key Points
 Merging of all PDD’s into one diagnostic category -
Autism Spectrum Disorder (ASD) -Retts removed
 Individuals formerly diagnosed should continue to
meet criteria
 Onset of symptoms not required by age 3
 Present in early developmental period but may be
diagnosed later due to increased social demands
 Behaviors do not need to be directly observed, by
history is sufficient
 DSM IV checklists do not include some of these new
criteria so may fall short as diagnostic tools
More Critical Changes
 Language delay is not a criteria for diagnosis
 Stereotyped language and echolalia are considered
RRBIs
 Repetitive and self directed play part of the RRBI
 Resistance to change is a symptom under the RRBIs
 Social/Communication – combined must meet all 3
criteria – two factor diagnosis
 Severity and language level need to be specified
 Hypo and Hyper reactivity to sensory input satisfy
diagnostic criteria
DSM IV vs. DSM-5 criteria
DSM-IV: 6 items from 1, 2, and 3
1.Qualitative impairment in social interactions 2/4
2.Qualitative impairment in communication 1/4
3.RRBI 1/4
DSM-5: 5 items from 1 and 2
1.Qualitative impairment in social/communication 3/3
2. RRBI – 2/4
Annual Research Review: Classification of Autism Spectrum Disorders
Lord & Jones, 2012
Aspergers in DSM 5
Persistent deficits in social communication and social
interaction
 All criteria 3/3 (reciprocity, interaction, relationships)
RRBI two of the following:
 1. Stereotyped or repetitive speech motor movements or use
of objects
 2. Insistence on sameness, inflexible adherence
routines, or ritualized patterns of verbal or non-verbal
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
Social Communication Disorder
 Individuals who have marked social communication
deficits but whose symptoms do not otherwise meet
criteria for ASD should be evaluated for social
communication disorder (SCD) (an orphan dx? new
PDD-NOS?)
 SCD does not have any of the RRBIs necessary for an
ASD diagnosis
 There are no specific tools to make this diagnosis,
rather by default it will be individuals who fail to meet
full criteria for ASD and have pragmatic language
deficits
Making the Diagnosis More Specific
 Associated genetic or known medical conditions
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should be specified
Severity (1-3) verbiage
With or without intellectual impairment
With or without language impairment
For example: “asd associated with “x” requiring very
substantial support with accompanying intellectual
impairment with no intelligible speech” “ASD
requiring minimal support with no language
impairment and generalized anxiety”
DSM 5 Improvements
 Inclusion of sensory challenges and difficulties
 Explicit statement of how compensatory mechanisms
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can mask underlying deficits (late diagnoses)
Co morbid diagnoses (70%) can be given when
appropriate – ADHD, GAD, Depression
End of the inconsistent use of PDD-NOS and
Aspergers
Greater appreciation of ASD as a heterogeneous
spectrum of disorders
Reduces stigmatization – no hierarchy of PDDs
though severity should be specified
DSM 5 Controversies
Removal of Asperger’s
How will social communication disorder be diagnosed?
Overlap with ASD? Eligibility for services? The new PDDNOS?
Too soon for DSM V ?–biologically based dx will
incorporate imaging, genetics, and other lab data – more
brain and neuroscience based dx criteria
 Dr Volkmar (primary author on DSM IV) McPartland et al.
(2012 JAACAP) examined the impact of proposed changes to
the criteria suggested up to 40% of individuals with autism
would “lose” dx. (those with higher cognitive abilities)
Other researchers and experts in field disagree with
findings – Lord, et al feel DSM V will be more sensitive and
inclusive (Arch Gen Psychiatry, 2012 Mar;69(3):306-13. ) Two
Factor Analysis improvement(JAACAP, 2013, Aug, 52,p 797805)
Potential Benefits
 ASD is more comprehensible to families than the
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Pervasive Developmental Disorders with subtypes
No denial of coverage from insurance companies for
patients whose dx changed from 299.80 to 299.00 ??
Inclusion of sensory behaviors is overdue
I have yet to see case where criteria by DSM 5 would
not be met for a child with PDD-NOS, or Aspergers
Individuals with Aspergers are mixed in their response
to the change in terminology
SCD may be a viable diagnosis but more tools and
research are needed
DSM 5 – An Evolving Story
 No one knows full impact, even authors of DSM agree
 CT just passed a law (S.B. 1029) guaranteeing no one dx
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with autism prior to DSM 5 will lose insurance benefits
Significant clinical concern that SCD will be an orphan dx
and may not make it to DSM 5.1, or may be a euphemism
for higher functioning ASD
For families and individuals on the spectrum ASD may help
diminish stigma, seek support and treatment, and
hopefully positive impact outcomes.
Loss of Aspergers is also loss of a cultural icon
Will the new criteria result in under diagnosis of the more
cognitively able?
? DSM 5 Effects on Intervention
 No significant improvement in understanding causes of
ASD, biomarkers for ASD, distinct endo-phenotypes
 Bottom up view of ASD: DNA – mRNA-Cell ModulationPhysiological Process-Neuro-modulators-Brain
Structure/Function-Cognition-Symptoms
 Still stuck at symptom/cognitive level – EI, ABA, CBT,
Education
 Pharmacology & Biomedical –Physio/Neuromod level
 Future of therapeutics – Gene Therapy
 Individual biomarkers hold promise for individualized tx
 No clarification of biomedical theories: oxidative stressinflammation-FFA dysregulation-Immunie DysregulationExcitotoxcity-Disturbed Methylation-Mitochondrial
Dysfunction *Model Robert Hendren, UCSF Medical School
A Parents Perspective
 De-stigmatization by broadening the spectrum
 Greater appreciate of the heterogeneity of ASD
 No one is left behind – high vs. low functioning
 Bringing the word Autism out of the shadows and into
the light
Comparison of IV to 5
Social &Communication Domain(s) in IV vs. 5
DSM IV
SOCIAL (2/4)
(a) Marked impairment in the use of multiple
nonverbal behaviors to regulate social
interaction
(b) Failure to develop peer relationships
appropriate to developmental level
(c) A lack of spontaneous seeking to share
enjoyment, interests, or achievements with other
people
(d) Lack of social or emotional reciprocity
COMMUNICATION (1/4)
(a) 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)
(b) In individuals with adequate speech, marked
impairment in the ability to initiate or sustain a
conversation
(c) Stereotyped and repetitive use of language or
idiosyncratic language
(d) Lack of varied, spontaneous make-believe play
or social imitative play appropriate to
developmental level
DSM V
Persistent deficits in social
communication and social
interaction across multiple
contexts as manifest by the
following, currently or by
history: (social +
communication=social
communication (3/3))
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
RRBI – IV vs. 5
(3) RRBI -Restricted repetitive and
stereotyped patterns of behavior,
interests and activities, as manifested
by at least two of the following:
(a)Encompassing preoccupation with
one or more stereotyped and
restricted patterns of interest that
is abnormal either in intensity or
focus HORSES
(b) Apparently inflexible adherence to
specific, nonfunctional routines or
rituals
(c)Stereotyped and repetitive motor
mannerisms (e.g., hand or finger
flapping or twisting, or complex
whole-body movements) HAND
GESTURES
(d) Persistent preoccupation with parts
of objects
B. Restricted, repetitive patterns of
behavior, interests, or activities as
manifested by at least two of the
following:
1. Stereotyped or repetitive speech,
motor movements, or use of objects
2. Insistence on sameness, inflexible
adherence to routines, or ritualized
patterns of verbal or non-verbal
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
Specifiers
B. Delays or abnormal
functioning in at least one of
the following areas, with
onset prior to age 3 years: (1)
social interaction, (2)
language as used in social
communication, or (3)
symbolic or imaginative play
C. The disturbance is not better
accounted for by Rett's
Disorder or Childhood
Disintegrative Disorder.
C. Symptoms must be present
in early childhood (but may not
become fully manifest until
social demands exceed limited
capacities)
D. Symptoms cause clinically
significant impairment in
social, occupational or other
important areas of current
functioning.
E. Deficits not better explained
by global DD or ID
PDD-NOS – sub threshold,
pervasive social problems
number of symptoms fewer
than autism
*To diagnose ID and ASD
social-communication should
be below expectations for
developmental level
Severity Level
for ASD
Level 1
Requiring support
DSM–V Workgroup
Social
Communication
Restricted Interests
and Repetitive
Behaviors
Without supports in place, deficits
in social communication cause
noticeable impairments. Difficulty
initiating social interactions and
clear examples of atypical or
unsuccessful responses to social
overtures of others. May appear to
have decreased interest in social
interactions. For example a person
who is able to speak in full
sentences and engages in
communication but whose to and
fro conversation with others fails
and whose attempts to make
friends are odd and typically
unsuccessful
Inflexibility of behavior
causes significant
interference with
functioning in one or more
contexts. Difficulty
switching between
activities. Problems of
organization and planning
hamper independence
DSM–V Workgroup
Severity Level for Social Communication
ASD
Restricted Interests
and Repetitive
Behaviors
Level 2
Requiring
substantial support
Inflexibility of behavior,
difficulty coping with
change or other
restricted/repetitive
behaviors appear frequently
enough to be apparent to
the casual observer and
interfere with functioning
in a variety of contexts.
Distress and/or difficulty
changing focus or action.
Marked deficits in verbal and
nonverbal social communication
skills; social impairments
apparent even with supports in
place; limited initiation of social
interactions and reduced or
abnormal response to social
overtures from others. For
example…….
Severity Level for ASD
Social
Communication
Restricted Interests
and Repetitive
Behaviors
Level 3
Requiring very substantial
support
Severe deficits in verbal and
nonverbal social
communication skills cause
severe impairments in
functioning; very limited
initiation of social
interactions and minimal
response to social overtures
from others.
Inflexibility of behavior
extreme difficulty coping
with change or other
restricted/repetitive
behaviors markedly
interfere with functioning
in all spheres. Great
distress/difficulty changing
focus or action.
Aspergers in DSM IV vs. ASD in 5
 A. The disturbance causes clinically
significant impairment in social,
occupational, or other important
areas of functioning.
 B. There is no clinically significant
general delay in language
 C. There is no clinically significant
delay in cognitive development or in
the development of age-appropriate
self-help skills, adaptive behavior
(other than in social interaction),
and curiosity about the
environment in childhood.
 D. Criteria are not met for another
specific Pervasive Developmental
Disorder or Schizophrenia.
A. Persistent deficits in social
communication and social interaction
 All criteria 3/3 (reciprocity, interaction,
relationships)
B. RRBI two of the following:
 1. Stereotyped or repetitive speech
motor movements or use of objects
 2. Insistence on sameness,
inflexible adherence 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
References
 Guthrie, Swineford, Wetherby, Lord. Comparison of
DSM-IV and DSM-5 Factor Structure Models for
Toddlers With Autism Spectrum Disorder. J. Am
Academy Child Adolesc Child Psychiatry, 2013, 52,
p797-805
 Mandy, Charnam, Skuse, Testing the Construct
Validity of Proposed Criteria for DSM-5 Autism
Spectrum Disorder, J. Am Academy Child Adolesc
Child Psychiatry Vol. 51 no 1 , 2012, p41-50
 McPartland, Reichow, Volkmar, Sensitivity and
Specificity of Proposed DSM-5 Diagnostic Criteria for
AutismSpectrum Disorder, J. Am Academy Child
Adolesc Child Psychiatry , Vol. 51 ,no. 4 2012, p 368-383
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