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Susan E. Swedo, M.D. Chair, DSM-5 Neurodevelopmental Disorders - - PowerPoint PPT Presentation
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
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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
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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).
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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
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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.
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- 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
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DSM-IV DIAGNOSES
Expressive language
disorder
Mixed receptive-
expressive 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
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- A. Social Communication Impairment (SCI) is an
impairment of pragmatics and is diagnosed based
- n 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
- f word structure and grammar.
- B. The low social communication abilities result in
functional limitations in effective communication, social participation, academic achievement, or
- ccupational success, alone or in any combination.
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- 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.
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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.
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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
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DSM-III
- Strict criteria
DSM-IIIR
- Change in PDD-NOS description
DSM-IV
- Autism requires only “qualitative impairments”
in communication and social skills
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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
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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
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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
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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?
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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”?
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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?
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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%.
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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.
Implications of Dx:
- Etiology*
- Course**
- Appropriate
treatments**
- Prognosis**
- Risk or association with
- ther difficulties not
identified as core symptoms**
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Social Impairment Repetitive Behaviors & Restricted Interests Speech/ Communication Deficits
Autism
Language Disorders Intellectual Disabilities
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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
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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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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
- nly in 1994, the experts who are revising psychiatry’s diagnostic manual have proposed
to eliminate it from the new edition, due out in 2012. 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.
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Scientific validity
- Questioning the importance of very early
language milestones vs. fluent speech in
- lder years
- Overlap in research when VIQ controlled
Concern about access to services
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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 www.sfari.org for interested scientists
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ADI-R RRB Domain Scores
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ADOS Social Affect
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10 20 30 40 50 60 70 80 90 100 Percent aa ac ad ae af ag ah ai aj ak am Site Autism PDD-NOS Aspergers 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%
N = sample size F = % Females A = Mean Age
ASDDistribution of Probands
Total Probands = 423
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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
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- 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
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- Deficits in social-emotional reciprocity
- Deficits in nonverbal communicative
behaviors used for social interaction
- Deficits in developing and maintaining
relationships, appropriate to developmental level
TITLE
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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
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- 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
- 2. Deficits in nonverbal communicative
behaviors used for social interaction
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- 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
- 3. Deficits in developing and maintaining
relationships appropriate to developmental level (beyond those with caregivers)
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- A. Stereotyped or repetitive speech, motor movements or use
- f 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
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- A. Simple motor stereotypies and echolalia
- B. Repetitive use of objects
- C. Idiosyncratic phrases and stereotypic speech
- A. Stereotyped or repetitive speech, motor
movements or use of objects
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- A. Motoric rituals
- B. Insistence on same route or food
- C. Repetitive questioning
- D. Extreme distress at small changes
- 2. Excessive adherence to routines, ritualized
patterns of verbal or nonverbal behavior or excessive resistance to change: nonexhaustive examples
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- A. Strong attachment to unusual objects
- B. Preoccupations with unusual objects
- C. Excessively circumscribed or perseverative
interests
- 3. Highly restricted, fixated interests that are
abnormal in intensity or focus
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- 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
- 4. Hyper- or hypo-reactivity to sensory input or
unusual interest in sensory aspects of environment
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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
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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
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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
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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
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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
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- Perhaps, ASD could be conceived as a