Historical Trends: Autism: Always Controversial? Definition Etiology Treatment 1/15/2013. Autistic Disturbances of Affective Contact.
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1 Goals Understand autism diagnosis in a historical context Identify changes in diagnostic criteria Discuss relevance of the DSM (Diagnostic Statistical Manual) Autism: A Changing Diagnosis Terry Katz, PhD, JFK Partners, January 24, 2013 Why is diagnosis (and the DSM) important? Understanding outcomes Explanation of behavior Guides intervention Highlights risks for other difficulties The DSM has influenced our general understanding of autism guides private insurance, funding, and intervention has become a topic of general interest in the community Historical Trends: Autism: Always Controversial? Definition Etiology Treatment A Brief History of Autism Leo Kanner, 1943 Autistic Disturbances of Affective Contact 11 Cases Social Isolation Unusual Language Development Echolalia Pronominal Reversals Unusual Behaviors/ Insistence on Sameness Early Onset 1
2 Hans Asperger Autistic Psychopathy in Childhood 4 boys ages 6 to 11 Marked social difficulties Pedantic Little professors Unusual interests Clumsy and awkward Other family members (especially fathers) had similar difficulties Relatively good language and cognitive abilities Severe learning difficulties Not usually recognized until after age 3 Changes in definition Michael Rutter Uta Frith Lorna Wing Triad of Impairments Difficulties in Social Interaction Impairment in Communication and Imagination Narrow, Repetitive Patterns of Activities No clear cut boundaries between typical autism, atypical autism, and other manifestations of the triad Asperger s Syndrome Comes of Age Lorna Wing s 1981 paper Asperger specific assessment tools are developed (Gillberg, 1989) Uta Frith translates Hans Asperger s 1944 paper in 1994 World Health Organization and DSM IV recognizes Asperger s Syndrome in 1994 Autism and the DSM DSM 1 (1952) 000 x28 Schizophrenic reaction, childhood type DSM II (1968) Schizophrenia, childhood type 2
3 Change comes to the DSM Challenges to the diagnostic process Rosenhahn hoax Kendall study DSM II (1973, seventh edition) Resulting changes Use of checklists Symptoms versus causes Reliable diagnosis Valid diagnosis? Autism and the DSM III (1980) 299.0x Infantile Autism Onset before 30 months Pervasive lack of responsiveness to other people Gross deficits in language development Peculiar speech patterns Bizarre responses to various aspects of the environment Absence of delusions and hallucinations 299.9x Childhood Onset Pervasive Developmental Disorder 299.8x Atypical Pervasive Developmental Disorder Autism and the DSM III R (1987) Autism and the DSM IV (1994) and DSM IV TR (2000) Autistic Disorder Qualitative impairment in reciprocal social interaction Qualitative impairment in verbal and nonverbal communication and imaginative play Markedly restricted repertoire of activities and interests Onset during infancy or early childhood Pervasive Developmental Disorder Not Otherwise Specified Qualitative impairment in reciprocal social interaction Qualitative impairment in verbal and nonverbal communication and imaginative play Criteria not met for Autistic Disorder May or may not exhibit markedly restricted repertoire of interests Autistic Disorder Pervasive Developmental Disorders Asperger s Disorder PDD NOS Rett s Disorder Childhood Disintegrative Disorder Autism and the DSM IV (1994) and DSM IV TR (2000) Autistic Disorder A. Qualitative impairment in social interaction (nonverbal behaviors, peer relations, shared enjoyment, reciprocity) Qualitative impairments in communication (delay in language, conversational skills, stereotyped language, imaginative play) Restricted repetitive and stereotyped patterns of behavior, interests, and activities (focused interests, inflexible routines, motor mannerisms, preoccupation with parts of objects) 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 Asperger s Disorder and the DSM IV (1994) and DSM IV TR (2000) Asperger s Disorder A. Qualitative impairment in social interaction (nonverbal behaviors, peer relations, shared enjoyment, reciprocity) B. Restricted repetitive and stereotyped patterns of behavior, interests, and activities (focused interests, inflexible routines, motor mannerisms, preoccupation with parts of objects) C. The disturbance causes clinically significant impairment in social, occupation, or other important areas of functioning D. There is no clinically significant general delay in language (e.g., single words used by age 2 years, communicative phrases used by age 3 years). E. 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. F. Criteria are not met for another specific Pervasive Developmental Disorder or Schizophrenia 3
4 PDD NOS and the DSM IV (1994) and DSM IV TR (2000) Pervasive Developmental Disorder Not Otherwise Specified (Including Atypical Autism) 1994 This category should be used when there is a severe and pervasive impairment in the development of reciprocal social interaction or verbal and nonverbal communication skills, or when stereotyped behavior, interests, and activities are present. DSM 5 Timeline Formation of Work Group and Task Force Data Members (APA, collection for WHO, NIH) DSM 5 field trials December 1, 2012 Final approval of revisions by APA board of trustees 2000 This category should be used when there is a severe and pervasive impairment in the development of reciprocal social interaction associated with impairment in either verbal or nonverbal communication skills or with the presence of stereotyped behavior, interests, and activities Formulation of proposed draft criteria Spring 2012 Revised draft diagnostic criteria are posted on and open to public feedback May 18 22, 2013 Release of DSM 5 at APA annual meeting DSM 5 Committee on Neurodevelopmental Disorders Susan Swedo, M.D., pediatrician and chair Gillian Baird, M.D., developmental pediatrician Edwin Cook Jr, M.D., child psychiatrist Francesca Happe, Ph.D., developmental psychologist James Harris, M.D., child psychiatrist Walter Kaufmann, M.D., neurologist Bryan King, M.D., child psychiatrist Catherine Lord, Ph.D., clinical psychologist Joseph Piven, M.D., child psychiatrist Sally Rogers, Ph.D., developmental psychologist Sarah Spence, M.D., child neurologist Rosemary Tannock, Ph.D., pediatric neuropsychologist Amy Wetherby, Ph.D., speech language pathologist Harry Wright, M.D., child psychiatrist Fundamental Changes One unifying diagnosis No distinct subtypes Autism Asperger s Disorder PDD NOS CDD Autism Spectrum Disorder Fundamental Changes Two versus Three Symptom Domains Social Impairment Social Communication Impairment Communication deficits Repetitive/Restricted Repetitive/Restricted Behaviors Behaviors 4
5 Scientific Rationale Distinctions between Autism, Asperger s Disorder, and PDD NOS Question about importance of early language Simons Simplex Collection Access to services 2 versus 3 symptom domains Social interaction skills and communication skills are highly correlated in individuals with autism spectrum disorders. When they are not, differences are primarily accounted for by language level and intelligence Must meet criteria A, B, C, and D: A. Persistent deficits in social communication and social interaction across contexts, not accounted for by general developmental delays, and manifest by all 3of the following: 1. Deficits in social emotional reciprocity; ranging from abnormal social approach and failure of normal back and forth conversation through reduced sharing of interests, emotions, and affect and response to total lack of initiation of social interaction. 2. Deficits in nonverbal communicative behaviors used for social interaction; ranging from poorly integrated verbal and nonverbal communication, through abnormalities in eye contact and bodylanguage, or deficits in understanding and use of nonverbal communication, to total lack of facial expression or gestures. 3. Deficits in developing and maintaining relationships, appropriate to developmental level (beyond those with caregivers); ranging from difficulties adjusting behavior to suit different social contexts through difficulties in sharing imaginative play and in making friends to an apparent absence of interest in people. Must meet criteria A, B, C, and D: 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; (such as simple motor stereotypies, echolalia, repetitive use of objects, or idiosyncratic phrases). 2. Excessive adherence to routines, ritualized patterns of verbal or nonverbal behavior, or excessive resistance to change; (such as motoric rituals, insistence on same route or food, repetitive questioning or extreme distress at small changes). 3. Highly restricted, fixated interests that are abnormal in intensity or focus; (such as strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests). 4. Hyper or hypo reactivity to sensory input or unusual interest in sensory aspects of environment; (such as apparent indifference to pain/heat/cold, adverse response to specific sounds or textures, excessive smelling or touching of objects, fascination with lights or spinning objects). Must meet criteria A, B, C, and D: 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. Severity Level for ASD Social Communication Restricted Interests and 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. Rituals and repetitive behaviors (RRB s) cause significant interference with functioning in one or more contexts. Resists attempts by others to interrupt RRB s or be redirected from fixated interest. Severity Level for ASD Social Communication Restricted Interests and 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. RRBs and/or preoccupations or fixated interests appear frequently enough to be obvious to the casual observer and interfere with functioning in a variety of contexts. Distress or frustration is apparent when RRB s are interrupted; difficulty to redirect from fixated interest. 5
6 Severity Level for ASD Social Communication Restricted Interests and LEVEL 3: Requiring very substantial support Severe deficits in verbal and nonverbal social communication skills case severe impairments in functioning; very limited initiation of social interactions and minimal responses to social overtures to others. Preoccupations, fixated rituals and/or repetitive behaviors markedly interfere with functioning in all spheres. Marked distress when rituals or routines are interrupted; very difficult to redirect from fixated interest or returns to it quickly. * Dimensional Ratings Social Communication Restricted Interests and SUBCLINICAL SYMPTOMS NORMAL VARIATION Some symptoms in this or both domains; no significant impairment May be awkward or isolated but within normal limits Unusual or excessive, but no interference Within normal limits for developmental level and no interference *From: Lord, C., Where is the diagnosis of Autism Spectrum Disorders (ASD) going? AUCD Webinar, March 8, 2011 DSM 5 Specifiers and Modifiers* Specifiers for Etiology (if known): ASD with Rett Syndrome ASD with Fragile X ASD with 22q deletion Modifiers of Other Important Factors: ASD with a seizure disorder ASD with sleep apnea ASD with a language disorder or an intellectual disability Early history is also specified: Age of perceived onset Pattern of onset (loss? Of what skills?) E.g., ASD with onset before 18 months and loss of words and social skills Strong Public Reaction *Adapted from: Lord, C., Where is the diagnosis of Autism Spectrum Disorders (ASD) going? AUCD Webinar, March 8, 2011 Social Communication Disorder (SCD) in the DSM 5 A. Social Communication Disorder (SCD) is Impairment of pragmatics Diagnosed based on difficulty in the social uses of verbal and nonverbal communication in naturalistic contexts Which affects the development of social relationships and discourse comprehension Cannot be explained by low abilities in the domains of word structure and grammar or general cognitive ability. A New Definition of Autism Could Exclude Many Now Diagnosed, Expert Says B. The low social communication abilities result in functional limitations in effective communication, social participation, academic achievement, or occupational performance alone or in any combination. C. Rule out Autism Spectrum disorder (ASD). Autism Spectrum Disorder by definition encompasses pragmatic communication problems, but also includes restricted, repetitive patterns of behavior, interest or activities as part of the autism spectrum. Therefore, ASD needs to be ruled out for SCD to be diagnosed. D. Symptoms must be present in early childhood (but may not become fully manifest until social demands exceed limited capacities). McPartland, J., Reichow, B., & Volkmar, F. (2012). Sensitivity and Specificity of Proposed DSM 5 Diagnostic Criteria for Autism Spectrum Disorder Journal of the American Academy of Child & Adolescent Psychiatry, 51 (4), DOI: /j.jaac
7 DSM IV versus DSM 5 diagnoses DSM 5 Field Trials Reliability of criteria? Yes Change in prevalence? Very small; children who did not receive a diagnosis of an Autism Spectrum Disorder received a diagnosis of Social Communication Disorder. Huerta, M., Bishop, S.L., Duncan, A., Hus, V., Lord, C. Application of DSM 5 Criteria for Autism Spectrum Disorder to Three Samples of Children With DSM IV Diagnoses of Pervasive Developmental Disorders. Am J Psychiatry 2012;169: /appi.ajp Narrow, W.E., Clarke, D.E., Kuramoto, S.J., Kraemer, H.C., David J. Kupfer, D.J., Greiner, L., Regier, D.A. DSM 5 Field Trials in the United States and Canada, Part III: Development and Reliability Testing of a Cross Cutting Symptom Assessment for DSM 5 Am J Psychiatry 2012;: /appi.ajp Remaining Concerns How will the change in the DSM affect the diagnoses of very young children, adults, and individuals from diverse ethnic backgrounds? What about the impact on community settings versus academic centers? Will individuals with Asperger Syndrome or PDD NOS lose services because of change in the DSM? Will people who prefer the term Asperger Syndrome still use be able to use this term? Will the range of skills and abilities of individuals with ASD continue to be acknowledged and respected? 7
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