Overview of Autism Spectrum Disorder

Transcription

Big thanks to Drs. Cheryl Klaiman and
David Jaquess, organizer of this year’s
Symposium
Autism Spectrum Disorder:
Overview of Clinical Features and
Clinical Services
Thank You
• The children and families who support our clinical and research activities
• My colleagues and students
• The Marcus Foundation
• The JB Whitehead and Woodruff Foundations
• The Children’s Healthcare of Atlanta Foundation
Marcus Autism Center 5th Annual Summer Symposium
on Autism Spectrum Disorder
• The Cox Foundation
• The Georgia Research Alliance
Ami Klin, PhD
as well as
• The National Institute of Mental Health
• The National Institute of Child Health and Human Development
Director, Marcus Autism Center, Children’s Healthcare of Atlanta
GRA Eminent Scholar Professor & Chief, Division of Autism, Department of Pediatrics, Emory University School of
Medicine
Emory Center for Translational Social Neuroscience
• The National Science Foundation
• The Simons Foundation
• The Autism Science Foundation
• Autism Speaks
• United Way
Marcus Autism Center
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Marcus Autism Center at a glance
Web of Relationships =
• >5,000uniquepa-ents/yr
• >3,500inthecommunity
PARTNERSHIPS
• Tx:setprotocols(xvisits)
• Transla-on
• Impact
• Science
• FacultyAdvancement
• ClinicalResources
• ResearchResources
• >60%onMedicaid
• ~35%minori-es/under-served
★ Children’s Sibley
★ Children’s Hughes Spalding
★ Children’s Chamblee
• ClinicalAssessment/Diagnosis
• TreatmentPrograms
• Center/Home/School/Community
• CareCoordina-onProgram
• Educa-onalOutreachProgram
Opportunities
★ Georgia Tech Biomedical Engineering
★ Georgia Tech “Behavioral Imaging Solutions”
★ Georgia Tech several other projects
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★
Atlanta Speech School
National Black Church Initiative
Georgia Pathway to Language
Morehouse School of Medicine
Satcher Leadership Institute
★ GA Dep of Public Health
★ GA Dep of Education
★ GA Dep of Early Care & Learning
Excellence
COMMUNITY-VIABLE
OUTREACHMODEL
CLINICAL
TRAINING
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★ Georgia State, Economics
★ Georgia State, Neuroscience
Funding Partners
★
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★
★
University Partners
CENTER-BASED
MODELPROGRAM
★ Emory Pediatrics
★ GI, Neonat
★ Emory Genetics
★ Emory Yerkes
★ Emory OB-GYN
★ Emory Rollins
★ Emory Nursing
★ Emory Psychiatry
The Science of Clinical Care
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RESEARCH
ADVOCACY
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UCSF
UCLA
Washington University
Albert Einstein, NY
Cornell
Drexel
Florida State University
Harvard
NICHD/Autism Speaks BSRC (> 20 sites)
Foundation for NIH group ★
★
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★
NIH
NSF
HRSA
Marcus Foundation
Woodruff/Whitehead
Foundations
Georgia Research Alliance
Autism Speaks
Autism Science Foundation
Simons Foundation
United Way
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Emblematic!
Challenges and Opportunities:
Social vocal engagement: infants (0
to 36 months)
Social visual engagement: infants (0
to 36 months)
Behavioral Neuroscience: infant rhesus monkeys
Treatment: infants & toddlers
(12 to 14 months)
ASDsymptomsRESULTfromdevia-onsfrom
norma-vesocializa-on
Reducing Age of Diagnosis & Improving Access to Care
Autism Center of Excellence
GENETIC
MECHANISMS OF SOCIALIZATION
SYMPTOMS
BEHAVIORAL
LIABILITY
CONCEPTS
•Braindisorderofgene-corigins
•AdverseoutcomescanbeaZenuated
•Importanceofearlydiagnosisandinterven-onforlifelongoutcome
andcostofcare
•AmericanAcademyofPediatrics
– Screening(18and24months),buts-lllowuptake
•8%ofprimarycareprovidersrou-nelyscreenforASD
•MedianageofdiagnosisinUS:4-6to5.7years
•Laters-llindisadvantagedcommuni-es
•NoCommunity-viablesystemofcare
•ReimbursementsystemsNOTinplace
Johnson & Myers, 2007; Dosreis et al., 2006; Heidgerken et al., 2005; Honigfeld et al., 2012; Shattuck et al., 2009; Mandell et al., 2005; 2009
Jones et al. (2008). Arch Gen Psy, 65(8), 946-54; Klin et al. (2009). Nature, 459, 257-61; Jones & Klin (2009). J Am Acad of Child Psy, 48(5): 471-3; Jones & Klin (2013). Nature,
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UniversalPrinciple:
thePladormforDevelopmentofSocialBrain
504, 427-431; Klin et al. (2014). Neurosci Biobehav Rev.
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Theco-crea-onofsocialexperience
Sociality: the evolutionary roots of
our social brain
Born to
Socially Orient
Reciprocal
Social Interaction
MH Johnson PhD
Neuroplasticity
WHITE MATTER DEVELOPMENT
H-J Park PhD
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Autism Spectrum Disorder
BACK IN TIME
TEST
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UnifyingPrincipleinDevelopment:
Au-smandothercondi-ons
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Brains and experience:
Babies create their own niche
ResearchProjects
Reciprocal Social Interaction
Reciprocal
Social Interaction
TheBrainBecomes
WhoWeAre....
JE LeDoux PhD
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ResearchProjects:ACE
Research Enterprise at a glance
• CAUSES
RESEARCH
INITIATIVES
• TREATMENT
>200 babies (towards 1,650
assessment days)
RESEARCH
INFRASTRUCTURE
• COMMUNITY-VIABLESOLUTIONS
• “VALUEPROPOSITION”
>1,500 vocal recordings
completed
• 13RESEARCHCORES
• 9INTERNAL,4COLLABORATIVE
• RESEARCHADMINISTRATION
• INFORMATICS
Strategy for
Reseach Enterprise
>1,800 eye-tracking sessions
completed
• DATAMANAGEMENT&ANALYSIS
Diagnosis
Psychopharmacology
>4,500 assessment measures
completed
Concept
Behavioral
Neuroscience
Animal
Models
Neurobiology
Genetics
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INFANT
SIBLING STUDY
Ontogeny & Neural Basis of Social Visual Engagement
in Monkeys
Translational Opportunities
A National Institutes of Health
Autism Center of Excellence
YerkesFieldSta-on,LawrencevilleGA
->Neverseparatedfrommom
->Remaininsocialgroup
• High-throughput, low-cost,
deployment of universal
screening in the community
Jocelyne Bachevalier, PhD
• Early detection, early
intervention, optimal
outcome
Xiao Ping Hu, PhD
• Prevention or attenuation
of intellectual disability in
ASD
Lisa Parr, PhD
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ResearchProjects–HeadGrowth
ResearchPublications:Treatment
TreatmentResearchTurnedClinicalTool
Larry Scahill, PhD
Gordon Ramsay, PhD
Chawarska et al 2011
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Mar Sanchez
Warren Jones
Longchuan Li
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SocialVisualEngagementin
infantmacaques
FA
MD(mm/s2)
AD(mm/s2)
RD(mm/s2)
Xiaoping Hu
Peter Lewis
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Inspira-onandmethodsforourresearch
withinfantmacaques
Jocelyne
Bachevalier
Karen Bearss, PhD
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Implications for brain development
BrainStudies:HumanInfants
Community-Viable Solutions:
F ratio
p < 0.05, Change in fixation
p < 0.05, Fixation Time
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3
4
5
6
9
12
15
18
24
Age (in months)
Sarah Shultz Longchuan Li
% of Maximum
0%
50%
Amy Wetherby, PhD
100%
•
Navigator for Early Intervention Providers
Navigator for Primary Care Physicians
•
Navigator for Families
•
Parent Engagement, Clinical Trials
•
Community Viable Treatments, Clinical Trials
Efficacy of Early Screening & Early Intervention
•
Warren Jones
MPFC
THAL
HIP
STR
OccVC
CB
IPL
ATC
PMC
OFC
DLPFC
J
VLPFC
AMG
• United Way new $ 1.875 m/3 yrs (Jennifer Stapel-Wax PI);
• NIH Multi-Site R01: Marcus, Cornell, Drexel, FSU (May 2014)
• Already work in Atlanta, several GA counties, as well as in FL, PA, TN
and NY
0
Warren Jones
Jennifer Stapel-Wax, PsyD
United Way Partnerships
Genes related to synaptogenesis
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9
12
Age (months)
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(Kang et al., Nature 2011)
Shultz, Jones et al., in prep.
“Less than 20% of children with
Autism in the US are identified
before the age of 3 years”
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Augmen-ngAccessto
EarlyTreatmentviaPartnerships Brief & Selective Overview of Autism Spectrum Disorders
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Autism is ... in 1943 as in 2015
Primary
Care
Physician
Family
Leo Kanner
1894-1981
Early
Intervention
Provider
Autism
is ...
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Evolutionarily Highly Conserved and Developmentally Early
Emerging Mechanisms of Socialization
What does the baby see
DOOR
baby
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Normative social development:
Infants come into the world “pre-wired” for social engagement
• From the first days of life infants are profoundly sociable
• Human face and human voice are the most interesting stimuli in
the environment
• Early emergence of
• selective attention
• selective engagement
• social reciprocity
• attachments
• social-communication skills
• joint attention and social referencing skills
• “Theory of Mind”
• relationships
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Au-sm:
Developmental Trajectories
Unlikeintypicaldevelopment,
predisposi-ons to orient to, and
engage with people are absent or
impaired.
Developing
expertise about
the
Social World
Developing
expertise about
the
Physical World
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CoreChallengesakaReali&es
CoreChallenges
• SOCIALSKILLS:theintangibles,theunstructured,thenovel,theimplicit,
• COMMUNICATIONSKILLS:theinformal,theconversa-onal,the
theintui-ve,the“commonsense”,thementalis-c
reciprocal,the‘other-directed’,thepolite,the‘untrue’,the‘chaZy’
• ADAPTIVESKILLS:groomingandself-care,domes-cchores,‘survival
skills’,livinginthecommunity,func-oninginbureaucracies,groupsand
rela-onships,legalconcerns
• LEARNINGSKILLS:rote&sequen-al,notconceptual&integra-ve;
learningABOUTnotlearningHOWTO
• ORGANIZATIONALSKILLS:repe--veschedules,‘todo’lists,planning
ahead,learningformfeedback,adjus-ngtovariantsofsitua-ons,
recognizingnovelty,knowingwhenandhowtoseekassistance,breaking
downbigtasksintostepwiseplans
• OBSTACLESTOADAPTATION:anxiety,panic,fearsandphobias,
depressionanddespondency,mo-va-onalissues,rigidi-es
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Self-help:anon-exhaus-velist
Domes-c:anon-exhaus-velist
Communityandsurvivalskills: anon-exhaus-velist
• Personalhygiene
• Grooming
• Minororannoyinghealthissues
• Majorhealthissues
• Clothing:purchasing,care,choice,whenandhow
• Moresandregula-ons
• Theprivatevs.thepublic
• Pubertyrelated
• Sexuality
•…
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• Purchasingneeds:thewhen,where,andhow
• Ea-ngandcooking:purchasing,planinng,prepara-on,ea-ng
out(e.g.,cafeterias),ea-ngout(e.g.,atfriends’)
• Fixingandmending
• Knowingwhendoingoneself,whenseekinghelp
• Knowingwhenoneneedstofixanything
• Cleaningandorganizing
• Whattothrowoutandwhattokeep
• Hoarding
• Payingbills,budge-ng,moneymaZers(e.g.,banking)
• Nego-a-ngprivacy
• Rigidi-es,rituals,obsessionality
•…
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• Goingtoplaces,transporta-on
• Emergencies
• Dealingwithsocialannoyances(e.g.,panhandlers,
manipulators,exploita-vecompanions)
• Dealingwithpeopleinposi-onofauthority
• POLICE
• Rules,thelaw,thenovel,theunexpected
• Theprivate,thepublic,theacceptable,theseemingly
criminal,theself-incrimina-ng,thepoorself-advocate
• Thebureaucracies,theforms,thescheduledcommitments
• Thetelemarketers,thesolici-ng,the“toogoodtobetrue’
invita-onsandoffers,‘junk’mail,INTERNET
•…
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CoreChallengesakaReali-es
TEST
Klin (2000). J Child Psychol Psych
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Social Attribution Task: narrative samples
Social Attribution Task: narrative samples
“...Whathappenedwasthatthelargertriangle--whichwas
likeabiggerkidorabully,andhehadisolatedhimselffrom
everythingelseun@ltwonewkidscomealongandtheliAle
onewasabitmoreshy,scared,andthesmallertriangle
morelikestoodupforhimselfandprotectedtheliAleone.
Thebigtrianglegotjealousofthem,cameout,andstarted
topickonthesmallertriangle.TheliAletrianglegotupset
andsaidlike“what’sup”?“whyaredoingthis?’...
“Thebigtrianglewentintotherectangle.Therewerea
smalltriangleandacircle.Thebigtrianglewentout.The
shapesbounceoffeachother.Thesmallcirclewentinside
therectangle.Thebigtrianglewasintheboxwiththecircle.
Thesmalltriangleandthecirclewentaroundeachothera
few@mes.Theywerekindofoscilla@ngaroundeachother,
maybebecauseofamagne@cfield.AIerthatheygooffthe
screen.Thebigtriangleturnedlikeastar-likeaStarof
David-andbroketherectangle...”
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Typically Developing Adolescent boy, age 13-9, FSIQ = 112
Adolescent boy with autism, age 14-9, FSIQ = 115
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Thinkingaboutthingsand
thinkingaboutpeople
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SearchingforSocialMeaning inReal-lifeSitua-ons
38yearoldadultwithau-sm(norma-veIQ)
• Startswhenasmallequilateral
trianglebreaksoutofasquare.A
smallsphereorcircleappearsand
slidesdownthebrokenrectangle.
Thetriangleswereeither
equilateralorisosceles.Laterthe
small,Ithink,isoscelestriangle
andspherebouncearoundeach
other,maybebecauseofa
magne-cfield…
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38yearoldadultwithau-sm(norma-veIQ)
• Therocketisbeinglaunchedand
• Startswhenasmallequilateral
isinpreliminaryorbitaroundthe
trianglebreaksoutofasquare.A
earth,windingaroundthemoon
smallsphereorcircleappearsand
attheappropriatedistanceso
slidesdownthebrokenrectangle.
thatthesatellitecanbereleased.
Thetriangleswereeither
Thesatellitewaslaunchedfrom
equilateralorisosceles.Laterthe
therocket,anditactuallylanded
small,Ithink,isoscelestriangle
onthemoon.Thesatellitewas
andspherebouncearoundeach
actuallymorelikealunarmodule
other,maybebecauseofa
….
magne-cfield…
Klin & Jones (2006). Brain & Cognition
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LookingatPeople
Adolescents&Adults
LookingatPeopleInterac-ng
Itisasocialdisability
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Standingbehindaperson’seyes
ViewerwithAu&sm
TypicallyDevelopingViewer
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TracingtheShapeofaSocialTriangle
Focusonmouthsvsfocusoneyes
Klin et al. (2002). Arch Gen Psychiat
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Klin et al. (2002). Am J Psychiat
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Following Social Attention Cues
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Focusonthe
Non-Speaker:
contextualcuesthat
mayalterthemeaning
ofasocialscene
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Threemainprinciplesofsocialand
communica-onskillslearning
• Awarenessofconven-onalrulesofsocial
engagementandsocialconversa-on
• Ac-veandappropriate‘reading’ofsocial
cues
• Self-monitoringandadjustmentin
conversa-on
Active ‘reading’ of social cues
Awarenessofconven-onalrules
• Topic selection
• Ways of marking topics shifts
• Background information (presupposition and
familiarity)
• Knowledge base of potential conversational
partners
• Repertoire of interests that can be discussed
• Conversational expectations (turn-taking, listening,
building on what is said)
•
•
•
•
•
•
Important for adjusting, predicting, ‘regrouping’
Eye contact / gaze
Facial and bodily gestures / posture
Prosodic cues (volume, inflection, rate)
‘Integrative’ cues
Practice in concrete situations (rehearsals, roletaking)
• Different settings – going from small therapeutic to
larger naturalistic (back and forth)
• Pertinence, ‘quantity’, … (rules of pragmatics)
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Self-monitoring in conversation: Adjustments
Whatdoesittaketounderstandasocialsitua-on? OrHOWTOBUILDASOCIALSKILLSTRAININGCURRICULUM
Salience
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• Style/register (e.g., more or less formal)
• Volume (e.g., in terms of social setting, proximity,
number of people, and background noise)
• Inflection modulation
• Rate, rhythm, and stress (e.g., emphasis, affective
communication)
• Awareness of self style
• The utilization of feedback (provided by others)
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Salience
Salience
Per-nence
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TheoryofMind:Cogni-on
TheoryofMind:Cogni-on
TheoryofMind:Affect
Pre>estgirlI
haveever
seen!
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Whata
SHOW-OFF!!
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Mad.
Jealous.
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TheoryofMind:Affect
Self-Love.
InferringSocialContext:
What does it take to understand a social situation? OR HOW TO BUILD A SOCIAL SKILLS
TRAINING CURRICULUM
Itisacostumecontest.Thetwo
girlsaremadbecausetheother
oneaKractedallofthe
aKen&on.
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Core Challenges aka Realities
SocialBrainCircuitry
• SOCIAL SKILLS: the intangibles, the unstructured, the novel, the
Sameordifferentperson?
implicit, the intuitive, the “common sense”, the mentalistic
• COMMUNICATION SKILLS: the informal, the conversational,
the reciprocal, the ‘other-directed’, the polite, the ‘untrue’, the ‘chatty’
• ADAPTIVE SKILLS: grooming and self-care, domestic chores,
‘survival skills’, living in the community, functioning in bureaucracies,
groups and relationships, legal concerns
• LEARNING SKILLS: rote & sequential, not conceptual &
integrative; learning ABOUT not learning HOW TO
• ORGANIZATIONAL SKILLS: repetitive schedules, ‘to do’ lists,
planning ahead, learning form feedback, adjusting to variants of
situations, recognizing novelty, knowing when and how to seek
assistance, breaking down big tasks into stepwise plans
• OBSTACLES TO ADAPTATION: anxiety, panic, fears and
RobertT.Schultz,Ph.D.
phobias, depression and despondency, motivational issues, rigidities
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SameorDifferentPerson
SameorDifferentObject
Theneuroanatomyofface
recogni-on:theFusiformgyrus
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AbsenceofFusiformAc&va&onToFaces
Schultz,Gauthier,Klin,etal.(2000).ArchivesofGeneralPsychiatry,57,331-340.
DifferencesinObject“Saliency”–
fallinginlovewithDigimon
GreaterInterest/AKen&ontoDigimonthanPeople
Red/Yellow
Blue/Purple
Right
Left
Autism Spectrum
Males (n = 20)
Normal Controls
Males (n = 20)
Right
Left
t maps of mean % signal change, p < .01
Masked for face-baseline & object-baseline at .05
“Digimon”(DigitalMonsters)
-Fusiform activation for Digimon characters
-Amygdala activation for Digimon characters
-Atypical specialization of ‘FFA’
-Emotional involvement and investment
in circumscribed interests
Grelotti et al., 2005, Neuropsychologia
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Exceptional drawing ability
Typical8yroldNadia:aroundage4or5
Typical8yroldNadia:aroundage4or5
StephenWiltshireMBEhZp://www.stephenwiltshire.co.uk/
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However
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Learning about autism from exceptional abilities
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TEST
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Learning Style
•LearningABOUTtheworld,notnecessarily
learninghowtofunc-onintheworld
•Partstowholes–unfortunately,theworldis
wholestoparts
•Roteandassocia-ve;unfortunatelylearning
needstobeintegra-veandconceptual
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Circumscribedinterests
• Frequentandhighlyvisiblemanifesta-onofthecondi-on
• Monopolizeslearning
• Monopolizesthinking
• Monopolizesconversa-onandrela-onships
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ImportanceforSelf-Iden-ty andSelf-Esteem
Someexamples
• onsnakes
• Wri-ngsofincarcerated
people
• Ondeathanddying
• Religion
• Cul-de-sacs
• Deep-fat-fryers
• Shakespeare’splays
• Telephonepoleinsulators
•
•
•
•
•
•
•
•
•
Pokemon
Digimon
Weather
TV/radiosta-ons
Electricalfans
Photographingpeople
Computerserialnumbers
Largenumbers
Algebraicequa-ons
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CoreChallenges
• SOCIALSKILLS:theintangibles,theunstructured,thenovel,theimplicit,the
intui-ve,the“commonsense”,thementalis-c
• Circumscribed interest may be important pillar
of self-identity
• ADAPTIVESKILLS:groomingandself-care,domes-cchores,‘survivalskills’,
• Very important to take this very seriously
• Examples:
– Cul de sacs
– Gaining insight into people through mathematics (e.g.,
algebraic equations)
livinginthecommunity,func-oninginbureaucracies,groupsandrela-onships,legal
concerns
ahead,learningformfeedback,adjus-ngtovariantsofsitua-ons,recognizingnovelty,
knowingwhenandhowtoseekassistance,breakingdownbigtasksintostepwiseplans
Poten-alfor
catastrophicconsequences
• DANGER!!Interestsandrepe--vebehaviorsgetcaught
together(e.g.,touching,shoes,fe-sh)
• DANGER!!Internet,solitaryandunmonitoreduseof
computer,pornographyontheweb
• Thedangerouscombina-onofcomputertechnicalskillsand
naivety+lackofstreetsmartsmayleadtoproblemswiththe
law
• Notpoten-alvic-mizers,butthelawoyendoesnotmake
thatdis-nc-on(mandatorysentences)
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Execu-veDysfunc-on
• Beingdevoidofa‘pilot’or‘navigator’
• TheCEOhastakenalong-termvaca-on
• Mothersandfrontallobes
• RequiringhelpwithtrivialmaZerssuchasshoppingand
comple-ngassignments
• Organizingtheirownac-vi-esinagoal-directedfashion
• Comple-ngtasksinanefficientmanner
• Learningfromongoingexperiences
• Breakingdowntasksintostepwisealgorithms
• Todolists,organizers,newtechnology
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CoreChallenges
ObstaclestoSuccessfulAdapta-on
• SOCIALSKILLS:theintangibles,theunstructured,thenovel,theimplicit,the
• Anxiety,panic,fears,phobias,depressionanddespondency,
mo-va-onalissues,rigidi-es,…
• Behavioralapproaches(func-onalbehavioralassessment)
• Psychopharmacologicalapproaches
intui-ve,the“commonsense”,thementalis-c
• ADAPTIVESKILLS:groomingandself-care,domes-cchores,‘survivalskills’,
livinginthecommunity,func-oninginbureaucracies,groupsandrela-onships,legal
concerns
• Needforsynergy:social-communica-on,real-lifesitua-ons,
comprehensiveness
• Needforintegra-on:generaliza-onacrosspeopleandacross
se{ngs
• Buildingonstrengths–Avenuesforsuccess
• Managingdifficultbehaviors:‘fits’,‘rumina-on’,…
• ORGANIZATIONALSKILLS:repe--veschedules,‘todo’lists,planningahead,learning
formfeedback,adjus-ngtovariantsofsitua-ons,recognizingnovelty,knowingwhenandhowtoseekassistance,
breakingdownbigtasksintostepwiseplans
Voca-onalTraining
• Emphasisonaddressingsocialdisabili-es,eccentrici-es,
andanxiety-relatedvulnerabili-es
• Grooming,presenta-on,applica-onleZerwri-ng,aswell
aseveryaspectofthejobinterviewprocess
• Neuropsychologicallyinformed
• College/voca-onalexperienceisfacilitatedbyindividual
supervision/tutorialsystem
• Sociallylessdemanding
• Acquaintancewithsupportedcollegeorworkresources
(e.g.,jobcoaches,transi-onagencies,parentsupport
networks).
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ThisyearCheryldidn’taskedmetotalkabout
DSM-5:YESORNO
Reali-esandDefini-ons:DSM-IV,DSM-5,andbeyond
DSM-IV(1994)andDSM-IV-TR(2000)
• The importance of diagnostic labels
• The limitations of diagnostic labels
• The political science of nosology, and the scientific
politics of nosology: important considerations
• The concept of reliability
• The concept of validity
• Nosology: expecting too much
• The consequences of shifts in definitions: DSM-III,
DSM-III-R, DSM-IV, and DSM-V
From Early Childhood Autism, to Pervasive
Developmental Disorders, to Autism
Spectrum Disorders: Kanner & DSM ology
•PervasiveDevelopmentalDisorders(earlyonsetdisordersof
socializa-on)
•Withorwithoutintellectualdisabili-es
–Au-s-cdisorder,PDD-NOS
•Withoutintellectualdisabili-es
–Asperger’sdisorder
•Alwaysintellectualdisabili-es
–ReZ’sdisorder
–ChildhoodDisintegra-veDisorder
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DSM-5workgroupreasoning
• “ASD” for Autism, Asperger Syndrome, CDD, PDD-NOS
–ASD vs ‘neurotypicality’ or non-ASD conditions valid
–Subtyping not reliable; better mediators: severity, language level or
intelligence
–Best ASD + associated features
• 3 domains become 2
–Social/Communication are inseparable
–Language delays not specific to ASD: mediator
–Better psychometric properties (better specificity; same sensitivity)
–Examples across ages and levels of severity
• Smaller number of symptoms
–Multiple criteria in DSM-IV, same symptom
–Data analyses (research on criteria) - SSC large sample
• DSM-5 vs. DSM-IV-TR
–56 Studies published by the end of 2013 focused on DSM-5
–~ 10 studies comparing Se & Sp of DSM-5 relative to DSM-IV
DSM-5 workgroup reasoning
• Repetitive behaviors/narrow or fixated interests
–Requiring 2 symptoms: improves specificity
–Multiple sources of information
–History thereof improves stability of diagnosis
–Unusual sensory sensitivities included
• Neurodevelopmental disorder
–Present from infancy or early childhood but more likely to be detected upon
social demands
• Indices of severity
–? (future, more quantitative)
–Current instruments (ADOS, ADI)
–Current parent reports/screeners (SRS)
–Current measurements of ability (Vineland)
DSM-5 definition of ASD
Social-Communication
• Persistent deficits in social communication and
social interaction across multiple contexts,
currently or by history: (all 3)
–D e f i c i t s i n s o c i a l e m o t i o n a l r e c i p r o c i t y
(from abnormal social
approach and failure of back-and-forth conversation; to reduced sharing of
interests, emotions; etc. )
–D e f i c i t s i n n o n v e r b a l c o m m u n i c a t i v e b e h a v i o r s
used for social
interaction (from poorly integrated verbal and nonverbal communication, to
abnormal eye contact, etc.)
–D e f i c i t s i n d e v e l o p i n g , m a i n t a i n i n g , a n d u n d e r s t a n d i n g
r e l a t i o n s h i p s (from difficulties adjusting behavior to suit various social
contexts to in making friends, absence of interest in peers, etc.)
–“Biomarkers”
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Restricted, Repetitive Behaviors
• R e s t r i c t e d , r e p e t i t i v e p a t t e r n s o f b e h a v i o r,
interests or activities, current or by history: (2 of
4)
–S t e r e o t y p e d o r r e p e t i t i v e m o t o r m o v e m e n t s , u s e o f o b j e c t s ,
or speech;
–I n s i s t e n c e o n s a m e n e s s , i n f l e x i b l e a d h e r e n c e t o r o u t i n e s , o r
ritualized patterns of verbal or nonverbal behavior;
–H i g h l y r e s t r i c t e d , f i x a t e d i n t e r e s t s t h a t a r e a b n o r m a l i n
intensity or focus;
–H y p e r - o r h y p o r e a c t i v i t y t o s e n s o r y i n p u t o r u n u s u a l i n t e r e s t
in sensory aspects of the environment;
• Symptoms must be present in the early
d e v e l o p m e n t a l p e r i o d (may not be fully manifest until
social demands
exceed limited capacities, or may be masked by learned strategies in later life)
• Symptoms cause clinical significant impairment in
social, occupational, or other important area of
current functioning;
• Not better explained by intellectual developmental
d i s o r d e r o r g l o b a l d e v e l o p m e n t a l d e l a y (discrepancy
between social communication skills and intellectual ability)
• If child/individual met DSM-IV criteria for autistic
d i s o r d e r, A s p e r g e r ’ s , o r P D D - N O S ( w e l l - e s t a b l i s h e d ) ,
DSM-5 diagnosis of ASD applies;
• If marked deficits in social communication, but does
not meet criteria for ASD, evaluate for Social
( P r a g m a t i c ) C o m m u n i c a t i o n D i s o r d e r (i.e., no symptoms in
the 2nd domain)
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• Specify
–i f i n t e l l e c t u a l i m p a i r m e n t
–i f l a n g u a g e i m p a i r m e n t
–i f a s s o c i a t e d w i t h k n o w n m e d i c a l o r g e n e t i c
condition or environmental factor (additional code)
–i f a s s o c i a t e d w i t h a n o t h e r n e u r o d e v e l o p m e n t a l ,
mental, or behavior disorder
–i f c a t a t o n i a ( ? ? ? ? ! ! ! ! ! )
• No more multi-axial system (of DSM-IV)
• Severity Levels of ASD
–Separate for Social Communication, and for Restricted, Repetitive
Behaviors
–Level 3: Requiring very substantial support
–Level 2: Requiring substantial support
–Level 3: Requiring support
132
DSM-5 definition of
Social (Pragmatic) Communication Disorder
DSM-5 definition of
Social (Pragmatic) Communication Disorder
• Onset: early developmental period
• Persistent difficulties in the social use of verbal
and nonverbal communication:
–D e f i c i t s i n u s i n g c o m m u n i c a t i o n f o r s o c i a l p u r p o s e s , s u c h a s
greeting and sharing information appropriate to social context
–I m p a i r m e n t o f t h e a b i l i t y t o c h a n g e c o m m u n i c a t i o n t o m a t c h
context or the needs of the listener (such as speaking
differently in, and adjusting to different contexts)
–D i f f i c u l t i e s f o l l o w i n g r u l e s f o r c o n v e r s a t i o n a n d s t o r y t e l l i n g
(taking turns in conversation, rephrasing when
misunderstood, using verbal and nonverbal signals to
regulate interaction)
–D i f f i c u l t i e s u n d e r s t a n d i n g w h a t i s n o t e x p l i c i t l y s t a t e d
(making inferences) and nonliteral or ambiguous meanings of
language (metaphors, humors, irony)
• Deficits result in functional limitations in effective
communication, social relationships, academic
achievement, or occupational performance
133
Less Discussed Complexities
(but deficits may not
become fully manifest until social communication demands exceed limited
capacities)
• Symptoms not attributable to another medical or
neurological condition, low abilities in word
structure and grammar
• Symptoms not better explained by ASD, intellectual
d i s a b i l i t y, g l o b a l d e v e l o p m e n t a l d e l a y o r a n o t h e r
m e n t a l d i s o r d e r.
• “ R a r e < 4 y e a r s ” ; Va r i a b l e o u t c o m e
• Risks: family history of ASD, communication
d i s o r d e r s , s p e c i f i c l e a r n i n g d i s o r d e r.
• Is this a back door to “Broader Autism
Phenotype” (BAP) moved outside its original (ASD)
familial context?
• ASD without RRBs (current or by history!)
• Other rule outs: ADHD, Social Phobia, ID
134
Advocacy Groups’
position and concerns
• Misdiagnosis or underdiagnosis of people with
Asperger’s Disorder
• “Asperger’s” has meaning to individuals affected,
families, service providers, organizations,
communities, the general public
• Symptoms not comprehensive enough:
–sensory atypicalities, anxieties, Executive Dysfunction,
RH learning difficulties - important for treatment/
educational programming
• Scales for measurement of ASD diagnostic
criteria not released yet -> Indices of Severity
135
Our ultimate goal
QUO VADIS
“diagnostic process” and DSM-5
• The dependency upon ADI-R and ADOS
–who administers these instruments
–reliability at the item level
–Doing away with the experienced clinician
• Where are the challenges most felt
–Are these challenges captured by the instruments
–The need for real-life instrumentation
The
“subthreshold” symptoms
•
–A “milder” social disability
–The real-life consequences of defining it as “mild”
• Self-representation
• The reality of community-based practices: the importance of
DSM
• All encompassing definition: need for quantification and
individualization
• Need for “tests” that are both diagnostic and prescriptive
• Redefining autism/ASD for the biological sciences
(NIMH)
• What is “core” and what are “associated disabilities”
• Could these associated disabilities be significantly
attenuated if not prevented?
Tomakeau-sm
anissueofdiversity,
notofdisability
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Now you truly deserve to
go to lunch ...
Have a wonderful symposium!
It will be terrific!
Thank you
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Overview of Autism Spectrum Disorder

Transcription

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