DSM-5 & ASD: Criteria and Controversies

Judith Aronson-Ramos, M.D.www.draronsonramos.com

ObjectivesReview key differences in DSM-IV vs. 5Examine the rationale for changes to diagnostic criteria for ASDDiscuss potential impact of these changes on clinical medicine and areas of controversyOffer 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 WorkgroupAs a behavioral diagnosis autism requires more specific

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 inclusionEffects 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 made more predictive than clinical presentationDiagnostic substitution due to stigma – use of PDD-NOS

& Aspergers instead of AutismExpressive language delay not unique to ASDDescriptions 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 PointsMerging 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 3Present 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 ChangesLanguage delay is not a criteria for diagnosisStereotyped language and echolalia are

considered RRBIsRepetitive and self directed play part of the RRBI Resistance to change is a symptom under the

RRBIsSocial/Communication – combined must meet all

3 criteria – two factor diagnosisSeverity and language level need to be specifiedHypo and Hyper reactivity to sensory input

satisfy diagnostic criteria

DSM IV vs. DSM-5 criteriaDSM-IV: 6 items from 1, 2, and 3 1.Qualitative impairment in social interactions 2/42.Qualitative impairment in communication 1/43.RRBI 1/4

DSM-5: 5 items from 1 and 21.Qualitative impairment in social/communication 3/32. RRBI – 2/4

Annual Research Review: Classification of Autism Spectrum DisordersLord & 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 DisorderIndividuals 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 should be specified

Severity (1-3) verbiage With or without intellectual impairmentWith or without language impairmentFor 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

difficultiesExplicit statement of how compensatory

mechanisms 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 ControversiesRemoval of Asperger’s How will social communication disorder be diagnosed? Overlap with ASD? Eligibility for services? The new PDD-NOS?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 797-805)

Potential BenefitsASD is more comprehensible to families than

the 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 overdueI 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 StoryNo one knows full impact, even authors of DSM

agreeCT just passed a law (S.B. 1029) guaranteeing no

one dx 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 iconWill the new criteria result in under diagnosis of

the more cognitively able?

? DSM 5 Effects on InterventionNo significant improvement in understanding causes of

ASD, biomarkers for ASD, distinct endo-phenotypesBottom up view of ASD: DNA – mRNA-Cell Modulation-

Physiological Process-Neuro-modulators-Brain Structure/Function-Cognition-Symptoms

Still stuck at symptom/cognitive level – EI, ABA, CBT, Education

Pharmacology & Biomedical –Physio/Neuromod levelFuture of therapeutics – Gene TherapyIndividual biomarkers hold promise for individualized txNo clarification of biomedical theories: oxidative stress-

inflammation-FFA dysregulation-Immunie Dysregulation-Excitotoxcity-Disturbed Methylation-Mitochondrial Dysfunction -

*Model Robert Hendren, UCSF Medical School

A Parents PerspectiveDe-stigmatization by broadening the

spectrum Greater appreciate of the heterogeneity of

ASD No one is left behind – high vs. low

functioningBringing the word Autism out of the shadows

and into the light

DSM Criteria SynopsisComparison of IV to 5

Social &Communication Domain(s) in IV vs. 5DSM 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 reciprocityCOMMUNICATION (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 VPersistent 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 reciprocity2. Deficits in nonverbal communicative behaviors used for social interaction3.. 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

SpecifiersB. 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.

PDD-NOS – sub threshold, pervasive social problems number of symptoms fewer than autism

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

*To diagnose ID and ASD social-communication should be below expectations for developmental level

DSM–V WorkgroupSeverity Level for ASD

SocialCommunication

Restricted Interests and Repetitive Behaviors

Level 1 Requiring support

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 WorkgroupSeverity Level for ASD

Social Communication Restricted Interests and Repetitive Behaviors

Level 2 Requiring substantial support

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…….

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.

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 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

ReferencesGuthrie, 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