susan e swedo m d

Susan E. Swedo, M.D. Chair, DSM-5 Neurodevelopmental Disorders - PowerPoint PPT Presentation

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

  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 ADVISORS  Gillian Baird Jim Bodfish   Ed Cook Martha Denckla   Francesca Happe Ann Kummer  Maureen Lefton-Grief  James Harris  Sally Ozonoff  Walter Kaufmann  Diane Paul   Bryan King Eva Petkova   Catherine Lord Daniel Pine   Joseph Piven Alya Reeve   Rosemary Tannock Mabel Rice   Sally Rogers Joseph Sergeant   Sarah Spence Bennett & Sally Shaywitz   Susan Swedo Audrey Thurm   Amy Wetherby Keith Widaman   Harry Wright 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 DSM-5 RECOMMENDATIONS  Expressive language Language impairment disorder Specific Learning  Mixed receptive- impairment expressive language Late language emergence disorder Social communication  Phonological disorder impairment (formerly Developmental Speech sound disorder Articulation Disorder) Voice disorder  Stuttering  Communication Disorder- Stuttering NOS

  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 166  2007  Autism rates rise to 1 in 150  October 2009  Autism reaches epidemic proportions: 1 in 58 boys and 1 in 91 children are affected.

  12.  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

  13.  DSM-III  Strict criteria  DSM-IIIR  Change in PDD-NOS description  DSM-IV  Autism requires only “qualitative impairments” in communication and social skills

  14.  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

  15.  Mental retardation was primary diagnosis, with “autistic features” if social - communication 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

  16.  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

  17.  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?

  18.  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 “over - diagnosed”?

  19.  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?

  20.  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%.

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

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

  23. 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

  24.  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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