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Susan E. Swedo, M.D. Chair, DSM-5 Neurodevelopmental Disorders Workgroup NOTHING to declare or disclose.

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Presentation on theme: "Susan E. Swedo, M.D. Chair, DSM-5 Neurodevelopmental Disorders Workgroup NOTHING to declare or disclose."— Presentation transcript:

1 Susan E. Swedo, M.D. Chair, DSM-5 Neurodevelopmental Disorders Workgroup NOTHING to declare or disclose.

2 MEMBERS  Gillian Baird  Ed Cook  Francesca Happe  James Harris  Walter Kaufmann  Bryan King  Catherine Lord  Joseph Piven  Rosemary Tannock  Sally Rogers  Sarah Spence  Susan Swedo  (Fred Volkmar)  Amy Wetherby  Harry Wright ADVISORS  Jim Bodfish  Martha Denckla  Maureen Lefton-Grief  Nickola Nelson  Sally Ozonoff  Diane Paul  Eva Petkova  Daniel Pine  Alya Reeve  Mabel Rice  Joseph Sergeant  Bennett & Sally Shaywitz  Audrey Thurm  Keith Widaman  Warren Zigman

3  Brief review of changes to  Intellectual disability (intellectual developmental disorder)  Specific learning disorders  In-depth consideration of DSM-5 criteria for autism spectrum disorder  Introducing severity ratings and specifiers  Relationship of ASD to Social (Pragmatic) Communication Disorder  Performance of ASD criteria in field trials  Why should you care about DSM-5? Or, what is the relationship of DSM-5 to ICD-10 and ICD-11?

4  A. Deficits in intellectual functions, such as reasoning, problem solving, planning, abstract thinking, judgment, and academic learning and learning from experience, confirmed by both clinical assessment and individualized, standardized intelligence testing.  B. Deficits in adaptive functioning that result in failure to meet developmental and sociocultural standards for personal independence and social responsibility. Without ongoing support, the adaptive deficits limit functioning in one or more activities of daily life, such as communication, social participation, and independent living, and across multiple environments, such as home, school, work, and recreation.  C. Onset of intellectual and adaptive deficits during the developmental period. Reprinted with permission from the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, (Copyright © 2013). American Psychiatric Association. All rights reserved.

5 DSM-IVDSM-5Rationale Reading Disorder Mathematics Disorder Disorder of Written Expression Learning Disorder NOS Specific Learning Disorder (Single Category) Lack of evidence for separation (symptoms overlap); need for single “umbrella” diagnosis. Use of specifiers to define deficits Improved utility for individual cases; better represents known neuroscience

6 A. Difficulties learning and using academic skills, as indicated by the presence of at least one of the following symptoms that have persisted for at least 6 mos, despite provision of interventions that target the difficulties: Inaccurate or slow and effortful word reading (e.g., reads single words aloud incorrectly or slowly and hesitantly, frequently guesses words, has difficulty sounding out words). Difficulty understanding the meaning of what is read (e.g., may read text accurately but not understand the sequence, relationships, inferences, or deeper meanings of what is read). Difficulties with spelling (e.g., may add, omit, or substitute vowels or consonants). Difficulties with written expression (e.g., makes multiple grammatical or punctuation errors within sentences; employs poor paragraph organization; written expression of ideas lacks clarity). Difficulties mastering number sense, number facts, or calculation (e.g., has poor understanding of numbers, their magnitude, and relationships; counts on fingers to add single-digit numbers instead of recalling the math fact as peers do; gets lost in the midst of arithmetic computation and may switch procedures). Difficulties with mathematical reasoning (e.g., has severe difficulty applying mathematical concepts, facts, or procedures to solve quantitative problems).

7 B. The affected academic skills are substantially and quantifiably below those expected for the individual’s chronological age, based on appropriate standardized measures, and cause significant interference with academic or occupational performance or with activities of daily living. C. The learning difficulties begin during school-age years but may not become fully manifest until learning demands exceed the individual’s limited capacities. D. The learning difficulties are not better accounted for by intellectual disabilities, global developmental delay, uncorrected visual or auditory acuity, other mental or neurological disorders, psychosocial adversity, lack of proficiency in the language of academic instruction, or inadequate educational instruction. Reprinted with permission from the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, (Copyright © 2013). American Psychiatric Association. All rights reserved.

8  PDD will be replaced by Autism Spectrum Disorder (ASD) with individual diagnoses merged into a single, behaviorally defined disorder  Three diagnostic domains will become two (Social communication and Restricted, repetitive behaviors)  Rett Disorder and other etiologic subgroups will be described by use of a Specifier: Associated with Known Medical or Genetic Condition or Environmental Factor

9  Delete the term “Pervasive Developmental Disorders”  Symptoms are not pervasive – they are specific to social- communication domain plus restricted, repetitive behaviors/fixated interests  Overuse of PDD-NOS leads to diagnostic confusion (and may have contributed to autism “epidemic”)  Overlap of PDD-NOS and Asperger disorder (and autistic disorder)  New diagnostic category: “Autism Spectrum Disorder” reflects current terminology in field.

10  DSM-IV (Pervasive developmental disorders)  Autistic Disorder  Asperger Disorder (relationship to “Aspies”)  Pervasive Developmental Disorder NOS  Childhood Disintegrative Disorder  Rett Disorder  DSM-5  Autism Spectrum Disorder

11  DSM-IV  Social  Communication (primarily verbal abilities)  Restricted and Repetitive behaviors  DSM-5  Social Interaction/Social Communication  Restricted and Repetitive behaviors

12 A. Persistent deficits in social communication and social interaction across multiple contexts, as manifested by the following, currently or by history (examples are illustrative, not exhaustive; see text): 1. Deficits in social-emotional reciprocity, ranging, for example, from abnormal social approach and failure of normal back and forth conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or respond to social interactions. 2. Deficits in nonverbal communicative behaviors used for social interaction, ranging, for example, from poorly integrated verbal and nonverbal communication; to abnormalities in eye contact and body- language or deficits in understanding and use of gestures; to a total lack of facial expressions and nonverbal communication. 3. Deficits in developing, maintaining, and understanding relationships, ranging, for example, from difficulties adjusting behavior to suit various social contexts; to difficulties in sharing imaginative play or in making friends; to absence of interest in peers. Reprinted with permission from the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, (Copyright © 2013). American Psychiatric Association. All rights reserved.

13 B. Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least two of the following, currently or by history (examples are illustrative not exhaustive; see text): 1. Stereotyped or repetitive motor movements, use of objects, or speech (e.g., simple motor stereotypies, lining up toys or flipping plates, echolalia, idiosyncratic phrases). 2. Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behavior (e.g., extreme distress at small changes, difficulties with transitions, rigid thinking patterns, greeting rituals, need to take same route or eat same food every day). 3. Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests). 4. Hyper-or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment (e.g., apparent indifference to pain/temperature, adverse response to specific sounds or textures, excessive smelling or touching of objects, visual fascination with lights or movement). Reprinted with permission from the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, (Copyright © 2013). American Psychiatric Association. All rights reserved.

14 C. Symptoms must be present in the early developmental period (but may not become fully manifest until social demands exceed limited capacities, or may be masked by learned strategies in later life). D. Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning. E. These disturbances are not better explained by intellectual disability or global developmental delays. Intellectual disabilities and autism spectrum disorder frequently co-occur; to make comorbid diagnoses of autism spectrum disorder and intellectual disability, social communication should be below that expected for general developmental level. Reprinted with permission from the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, (Copyright © 2013). American Psychiatric Association. All rights reserved.

15  Sensitivity has been “sacrificed” in order to improve specificity  Social communication domain  Restrictive interests and repetitive behaviors domain  Merging Asperger disorder (and PDD-NOS) into autism spectrum disorder results in loss of identity and ignores uniqueness of Asperger dx  Pre-/post DSM-5 research studies won’t be comparable

16 DSM-IVDSM-5 Proposed

17 For subcriterion A.3, DSM-IV checklist item is “failure to develop peer relationships and abnormal social play.” DSM-5 recommendations include higher- order impairments of “difficulties adjusting behavior to suit different social contexts.

18 For criterion C, DSM-IV requires that symptoms begin prior to the age of 3 years. The DSM-5 requires that symptoms begin in early childhood, with the caveat that “symptoms may not be fully manifest until social demands exceed capacity” (during middle-school years, later adolescence, or young adulthood).

19  Scientific validity  Lack of specificity and sensitivity in separating the diagnoses  Lack of accurate historical information about very early language development put emphasis on current speech (trainable)  Overlap in samples when VIQ controlled  Consideration of access to services

20 2102 validated singletons with ASD; 8500 family members (two biological parents and, in most cases, at least one unaffected sibling) with DNA and intensive behavioral and neuropsychological phenotyping Recruited from 12 sites in the US and Canada

21 ADOS Social Affect

22 Date of download: 11/26/2012 Copyright © 2012 American Medical Association. All rights reserved. From: A Multisite Study of the Clinical Diagnosis of Different Autism Spectrum Disorders Arch Gen Psychiatry. 2012;69(3): doi: /archgenpsychiatry Figure 1. Best-estimate clinical diagnoses across 12 university-based sites (ie, autism service providers) for 2102 probands assigned to 3 autism spectrum disorder diagnostic categories (autistic disorder, Asperger syndrome, and pervasive developmental disorder–not otherwise specified [PDD-NOS]). Figure Legend :

23 Date of download: 11/26/2012 Copyright © 2012 American Medical Association. All rights reserved. From: A Multisite Study of the Clinical Diagnosis of Different Autism Spectrum Disorders Arch Gen Psychiatry. 2012;69(3): doi: /archgenpsychiatry Figure 2. Classification and regression tree (CART.2 model) for best-estimate clinical diagnoses with diagnostic scales, site, and diagnostician characteristics as predictors. The sets of numbers separated by slashes denote the numbers for each diagnostic group: autistic disorder (AUT)/pervasive developmental disorder–not otherwise specified (PDD)/Asperger syndrome (ASP). ADI- RRB indicates Autism Diagnostic Interview–Revised restricted and repetitive behaviors total score; ADI-social, ADI-R social total score; ADI-VC, ADI-R verbal communication total score; ADOS-CSS, Autism Diagnostic Observation Schedule calibrated severity score; ADOS-RRB, ADOS restricted and repetitive behaviors total score; ADOS-soc+com, ADOS social and communication domain total score; Yr Exp, senior diagnostician's number of years of experience. Figure Legend :

24  Severity of ASD Symptoms  Pattern of Onset and Clinical Course  Etiologic factors  Associated conditions  Individual weaknesses and strengths CLINICIANS WILL BE ENCOURAGED TO DESCRIBE THESE DETAILS WITH DIAGNOSTIC SPECIFIERS

25  Age and pattern of onset  With /without loss of established skills  With/without accompanying intellectual impairment  With/without accompanying structural language impairment  Associated with a known medical or genetic condition or environmental factor  Associated with another neurodevelopmental, mental, or behavioral disorder  Severity of symptoms

26  No causal factors in ASD  i.e. presence of a risk factor will not predict ASD > 90% of the time  ID has “causal” loci but nothing else in DSM5  Due to some specific factors being so severe that even with variability ID is present (e.g. maternal deletion of 15q11-q13 – Angelman syndrome)  Examples – Rett disorder, Fragile X syndrome, fetal alcohol syndrome

27  E.g., ADHD - had been specifically excluded as a comorbid diagnosis in DSM-IV, yet 20-40% of pts with ASD have ADHD.  No exclusionary comorbidities  Specifiers role is to indicate additional disorder present and help clinician consider the impact of that dx on presentation of ASD  Co-occurring disorder should be separately coded and recorded

28 NO overall rating of ASD severity Social Communication Impairment (level 1,2,3) Restricted interests/Repetitive Behaviors (level 1,2,3) Level 1 – requiring support Level 2 – requiring substantial support Level 3 – requiring very substantial support

29 Severity Level Social CommunicationRestricted, 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. 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. Inflexibility of behavior, difficulty coping with change, or other restricted/repetitive behaviors appear frequently enough to be obvious to the casual observer and interfere with functioning in a variety of contexts. Distress and/or difficulty changing focus or action. Level 1 ‘Requiring support’ Without supports in place, deficits in social communication cause noticeable impairments. Has difficulty initiating social interactions and demonstrates clear examples of atypical or unsuccessful responses to social overtures of others. May appear to have decreased interest in social interactions. Inflexibility of behavior causes significant interference with functioning in one or more contexts. Difficulty switching between activities. Problems of organization and planning hamper independence.

30 1) Persistent difficulties in the social use of verbal and nonverbal communication as manifest by deficits in all of the following:  Deficits in using communication for social purposes, such as greeting and sharing information, in a manner that is appropriate for the social context  Impairment in the ability to change communication to match context or the needs of the listener, such as speaking differently in a classroom than on a playground, talking differently to a child than to an adult, and avoiding use of overly formal language  Difficulties following rules for conversation and storytelling, such as taking turns in conversation, rephrasing when misunderstood, and knowing how to use verbal and nonverbal signals to regulate interaction  Difficulties understanding what is not explicitly stated (e.g., making inferences) and nonliteral or ambiguous meanings of language, for example, idioms, humor, metaphors and multiple meanings that depend on the context for interpretation

31 2) Deficits result in functional limitations in effective communication, social participation, social relationships, academic achievement, or occupational performance. 3) Deficits must be present in the early developmental period, but may not become fully manifest until social communication demands exceed limited capacities. 4) Deficits are not better explained by autism spectrum disorder, intellectual disability (intellectual development disorder), global developmental delay, or another mental disorder or medical condition.

32  Diagnosis is needed for:  Children with current dx of PDD-NOS made solely on the basis of social communication deficits  Individuals with significant social skills deficits (e.g. children with ADHD)  Individuals with “subthreshold” symptoms  Should NOT be included in ASD section because it defines a group of individuals with related, but separate symptoms  Criteria appeared to function well in field trials

33  DSM-5 criteria represent consensus of clinicians and investigators on best description of autistic spectrum disorder (and other ND’s)  Efforts to “harmonize” DSM-5 and ICD criteria began in 2010 and are ongoing.  ICD-11 will likely retain separation of autistic disorder from other autism “spectrum” disorders but criteria are quite comparable  Research publications will be required to use DSM-5 criteria for “Expert Clinician’s Judgment”.

34  ASD is already preferred term for research (over PDD or individual dx’s)  ADI-R and ADOS are diagnostic standards for research

35 NUI Galway Dr. Geraldine Leader Dr. Louise Gallagher Ms. Patricia Walsh Autism Speaks Dr. Amy Daniels Dr. Andy Shih American Psychiatric Association, and the DSM-5 Task Force Dr. David Kupfer Dr. Darrel Regier MEMBERS of DSM-5 Workgroup  Gillian Baird  Ed Cook  Francesca Happe  James Harris  Walter Kaufmann  Bryan King  Catherine Lord  Joseph Piven  Rosemary Tannock  Sally Rogers  Sarah Spence  Amy Wetherby  Harry Wright


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