DSM-5 & ASD: Criteria and Controversies Judith Aronson-Ramos,
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 Pediatricians 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
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 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 didnt 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 PDDs 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 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 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 PDDNOS?)
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 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 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 Aspergers 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 797-805) Potential Benefits ASD 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 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 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 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 DSM Criteria Synopsis 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 socialemotional reciprocity 2. Deficits in nonverbal
communicative behaviors used for social interaction 3.. Deficits in developing and maintaining and understanding 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 wholebody movements) HAND GESTURES 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. 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 socialcommunication should be below
expectations for developmental level Severity Level Social for ASD Communication Restricted Interests and Repetitive Behaviors Level 1 Requiring support Inflexibility of behavior causes significant interference with
functioning in one or more contexts. Difficulty switching between activities. Problems of organization and planning hamper independence DSMV Workgroup 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 Severity 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. DSMV Workgroup 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 ageappropriate 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 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 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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