Susan E. Swedo, M.D. Chair, DSM-5 Neurodevelopmental Disorders Workgroup

Transcription

1 Susan E. Swedo, M.D. Chair, DSM-5 Neurodevelopmental Disorders Workgroup Senior Investigator & Chief Pediatrics & Developmental Neuroscience Branch National Institute of Mental Health Intramural Research Program Bethesda, Maryland

2 Myth: The DSM-IV criteria clearly differentiate Autism, Asperger Disorder and PDD-NOS Myth(?): Autism affects 1 in 110 children and 1 in 70 boys (Statistic from US CDC in 2009) Rumor: The ND Workgroup is ignoring science in favor of public opinion Rumor: The ND Workgroup is being created by a bunch of scientists without regard for public opinion.

3 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 Amy Wetherby Harry Wright ADVISORS Jim Bodfish Martha Denckla Ann Kummer Maureen Lefton-Grief Sally Ozonoff Diane Paul Eva Petkova Daniel Pine Alya Reeve Mabel Rice Joseph Sergeant Bennett & Sally Shaywitz Audrey Thurm Keith Widaman Warren Zigman

4 Multidisciplinary group with expertise in: Child psychiatry Child neurology Child psychology (clinical and experimental) Early development Speech & language pathology Pediatrics Advisors from a variety of related disciplines are appointed to work on specific issues (e.g. reading disorders or communication disorders).

5 Work Process Bi-monthly calls Twice yearly face to face meetings Subcommittee work in-between Ongoing input from other stakeholders CNS, AAP, International Rett Foundation, AACAP, American Psychological Association, American Association on Intellectual and Developmental Disabilities. Outreach by committee members and APA Posting of criteria and request for feedback from lay public and professionals

6 Subcommittees: Intellectual disabilities Learning disabilities Core domains of autism Co-morbid medical and genetic conditions Asperger s disorder Childhood disintegrative disorder (and regression in autism) Effects of age and gender.

7 Name Change DSM-IV = mental retardation and global developmental delays Concerns raised by AAIDD and others about pejorative nature of mental retardation Parent group (Voices of the Retarded) asked for retention of MR New Criteria Equal weighting between: Intellectual limitations Adaptive limitations

8 DSM-IV DIAGNOSES Expressive language disorder Mixed receptiveexpressive language disorder Phonological disorder (formerly Developmental Articulation Disorder) Stuttering Communication Disorder- NOS DSM-5 RECOMMENDATIONS Language impairment Specific Learning impairment Late language emergence Social communication impairment Speech sound disorder Voice disorder Stuttering

9 A. Social Communication Impairment (SCI) is an impairment of pragmatics and is 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 and cannot be explained by low abilities in the domains of word structure and grammar. B. The low social communication abilities result in functional limitations in effective communication, social participation, academic achievement, or occupational success, alone or in any combination.

10 C. Rule out Autism Spectrum Disorder. Autism spectrum disorder by encompasses pragmatic communication problems as part of the spectrum and therefore, ASD needs to be ruled out for SCI to be diagnosed.

11 1980 s Autism is rare, affecting 6 per 10,000 individuals 2006 Autism affects 1 in Autism rates rise to 1 in 150 October 2009 Autism reaches epidemic proportions: 1 in 58 boys and 1 in 91 children are affected.

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14 There are more cases the prevalence is increasing at epidemic rates The definition has changed (broadened) so that the spectrum includes more children Diagnostic assessments have improved An autism diagnosis increases services provided by school systems The studies use different methodologies and analytic techniques

15 DSM-III Strict criteria DSM-IIIR Change in PDD-NOS description DSM-IV Autism requires only qualitative impairments in communication and social skills

16 The Autism Spectrum Behavioral syndromes are hard to define with sensitivity and specificity (clinical practice vs. community) Broader phenotype may be included PDD-NOS is supposed to be the least used category, but accounts for more than 50% of cases

17 Mental retardation was primary diagnosis, with autistic features if socialcommunication deficits were observed Presence of repetitive behaviors is common in Developmental Disabilities (DD) and Intellectual Disabilities (ID) Question of diagnostic substitution has been raised and answered with contradictory results

18 Improved screening tools in toddlers and preschoolers has increased detection has also increased number of children who receive early diagnosis and move off the spectrum by grade school Increased recognition has provided diagnoses to less severely impaired individuals Diagnosis of PDD-NOS or Asperger disorder given to adolescents without developmental history

19 1992 The Start of the Epidemic? Dept. of Education changes guidelines for autism services to allow children to qualify for services with autism diagnosis only. States that expanded autism to include PDD- NOS and Asperger syndrome have different rates of diagnoses than those that don t (e.g. California) Regional increases in autism rates within school districts related to services delivered?

20 The CDC Studies Retrospective review of medical records and school records for key words based on DSM diagnostic criteria No in-person confirmation of caseness Rates differed 2-fold to 4-fold by location CDC s concerned that certain locales under-diagnosed (e.g. West Virginia no change in rates) However, since highest rates were in most affluent states/school districts, could some locales have overdiagnosed?

21 The NCHS Study (Pediatrics, October 2009) Shocking and Staggering rates of 1 in 58 boys and 1 in 91 children ages 3 17 years Telephone survey 40% of children who ever had diagnosis did not currently have an ASD Limitations? Conclusions?

22 Report of the Adult Psychiatric Morbidity Survey 2007 National Centre for Social Research and National Health Services Information Center Using a threshold of 10 or more on the Autism Diagnostic Observation Schedule, 1.0% of the adult population had ASD. The ASD prevalence rate was higher in men (1.8 per cent) than women (0.2 per cent). This fits with the gender profile found in childhood population studies. Childhood population studies showed rate of 1.0%.

23 Implications of Dx: Etiology* Course** Appropriate treatments** Prognosis** Risk or association with other difficulties not identified as core symptoms** Where are we with Dx? Worldwide standard criteria (DSM IV/ICD-10) With combined history/informant report and direct observation, excellent sensitivity and specificity for prototypic autism in preschool and school age children Diagnoses of ASD are generally stable. Within a research program, clinical best estimates add to stability of a diagnosis.

24 Social Impairment Autism Speech/ Communication Deficits Repetitive Behaviors & Restricted Interests Language Disorders Intellectual Disabilities

25 More referrals of: Toddlers and 2 year-olds Older children without intellectual disabilities Adolescents and adults often with psychiatric comorbidities Early intervention (and positive effects) Less association with intellectual disability. Children without significant language or cognitive delay present different pictures

26 1. One spectrum of autistic disorders called Autism Spectrum Disorder (ASD) defined purely by behaviors No differentiation among autism, PDD-NOS, Asperger Syndrome, Childhood Disintegrative Disorder No differentiation within ASD among disorders by etiology (Rett Syndrome, Fragile X, other known genetic disorders)

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28 A Powerful Identity, a Vanishing Diagnosis By CLAUDIA WALLIS (November 3, 2009) It is one of the most intriguing labels in psychiatry. Children with Asperger s syndrome, a mild form of autism, are socially awkward and often physically clumsy, but many are verbal prodigies, speaking in complex sentences at early ages, reading newspapers fluently by age 5 or 6 and acquiring expertise in some preferred topic stegosaurs, clipper ships, Interstate highways that will astonish adults and bore their playmates to tears. In recent years, this once obscure diagnosis, given to more than four times as many boys as girls, has become increasingly common... But no sooner has Asperger consciousness awakened than the disorder seems headed for psychiatric obsolescence. Though it became an official part of the medical lexicon only in 1994, the experts who are revising psychiatry s diagnostic manual have proposed to eliminate it from the new edition, due out in If these experts have their way, Asperger s syndrome and another mild form of autism, pervasive developmental disorder not otherwise specified (P.D.D.-N.O.S. for short), will be folded into a single broad diagnosis, autism spectrum disorder a category that encompasses autism s entire range, or spectrum, from high-functioning to profoundly disabling.

29 Scientific validity Questioning the importance of very early language milestones vs. fluent speech in older years Overlap in research when VIQ controlled Concern about access to services

30 Over 2200 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 Cell lines and phenotyping data are available through for interested scientists

31 ADI-R RRB Domain Scores

32 ADOS Social Affect

33 Percent ASD Distribution of Probands 100 Total Probands = Autism PDD-NOS Aspergers N = sample size F = % Females A = Mean Age 10 0 aa ac ad ae af ag ah ai aj ak am N=32 F=6.3% N=28 F=17.9% N=59 F=11.9% N=61 F=11.5% N=62 F=12.9% N=52 F=9.6% N=22 F=27.3% N=24 F=16.7% N=30 F=13.3% N=24 F=8.3% N=29 F=17.2% Site

34 That people with diagnoses of Asperger Syndrome or PDD-NOS do not lose services because of being included in ASD That people who prefer the term Asperger Syndrome as ways to refer to themselves can use it That the ranges of skill levels and abilities within the spectrum of ASD is not underestimated

35 Social communication Restricted interests and repetitive behaviors (RRBs) WHY? Social-communication skills group are highly correlated and group together When they do not, differences are primarily accounted for by language level

36 TITLE Deficits in social-emotional reciprocity Deficits in nonverbal communicative behaviors used for social interaction Deficits in developing and maintaining relationships, appropriate to developmental level

37 Examples (not intended to be exhaustive) A. Abnormal social approach B. Failure to have back and forth conversations C. Reduced sharing of interests, emotions and affect D. Lack of and/or interest in initiation of social interaction

38 2. Deficits in nonverbal communicative behaviors used for social interaction A. Poorly integrated verbal and nonverbal communication B. Abnormalities in eye contact and body language C. Deficits in understanding of nonverbal communication D. Lack of facial expression or gestures

39 3. Deficits in developing and maintaining relationships appropriate to developmental level (beyond those with caregivers) A. Lack of imaginative play B. Difficulties in making friends C. Adjusting behavior to suit different social contexts D. Absence of interest or response to people

40 A. Stereotyped or repetitive speech, motor movements or use of objects B. Excessive adherence to routines, ritualized patterns of verbal or nonverbal behavior or excessive resistance to change C. Highly restricted, fixated interests that are abnormal in intensity or focus D. Hyper- or hypo-reactivity to sensory input or unusual interest in sensory aspects of environment

41 A. Stereotyped or repetitive speech, motor movements or use of objects A. Simple motor stereotypies and echolalia B. Repetitive use of objects C. Idiosyncratic phrases and stereotypic speech

42 2. Excessive adherence to routines, ritualized patterns of verbal or nonverbal behavior or excessive resistance to change: nonexhaustive examples A. Motoric rituals B. Insistence on same route or food C. Repetitive questioning D. Extreme distress at small changes

43 3. Highly restricted, fixated interests that are abnormal in intensity or focus A. Strong attachment to unusual objects B. Preoccupations with unusual objects C. Excessively circumscribed or perseverative interests

44 4. Hyper- or hypo-reactivity to sensory input or unusual interest in sensory aspects of environment A. Apparent indifference to pain/heat/cold B. Adverse response to specific sounds or textures C. Excessive smelling or touching of objects D. Fascination with lights or spinning objects

45 General levels (often severe, moderate, mild, none) For a variety of domains relevant to almost any psychiatric condition Cross Cutting measures Some of them are: Developmental level or nonverbal and verbal IQ Adaptive functioning Verbal abilities at the time of intake Hyperactivity/impulsivity Sleeping difficulties Co-occurring medical/psychiatric problems or achievement issues

46 Dimensional Ratings for DSM V ASD Social Communication Fixated Interests and Repetitive Behaviors Requires very substantial support Minimal social communication Marked interference in daily life Requires substantial support Marked deficits with limited initiations and reduced or atypical responses Obvious to the casual observer and occur across context Less Severe Even with support, noticeable impairments Significant interference in at least one context Subclinical symptoms Some symptoms in this or both domains; no significant impairment Unusual or excessive but no interference Normal variation Maybe awkward or isolated but WNL WNL for developmental level and no interference

47 Age of perceived onset Pattern of onset -- E.g., Loss? Of what skills? Examples: ASD w/ onset before 18 months and loss of words & social skills ASD with onset by age 30 months and loss of social skills ASD with no clear onset and no loss

48 Use of the Specifier: Associated with Known Medical or Genetic Condition or Environmental Exposure Known Medical Condition Possibly etiologic: Seizure disorder Comorbid Chronic irritable bowel syndrome Known Genetic Condition Associated with Fragile X Disorder Associated with 15q11-13 Associated with Rett Syndrome (MECP-2) Known Environmental Exposure Associated with Fetal Alcohol Exposure

49 Commonalities in Core Symptoms Deficits of Social Communication Restrictive-Repetitive Behaviors & Fixated Interests Variety (n = 1) of: Course and Severity of core symptoms Intellectual Functioning Number & type of co-occurring sx s Etiologies

50 Perhaps, ASD could be conceived as a neurodevelopmental disorder similar to Cerebral Palsy, which implies a constellation of attributes with a clear effect on function But has a range of etiologies A range of severities Can be highly impairing or not at all as development progresses Has predictable but different trajectories Is treated or perhaps eventually prevented as we understand its causes Should be addressed in all developmental screenings