Autism Spectrum Disorders 9.20
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Transcript of Autism Spectrum Disorders 9.20
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CaseCase
X is a 26-month-old "only child" whopresents two months late for his 2-year-old
preventative care visit; he missed his 18-month visit altogether.
His parents report that they are concerned
about his speech since he began attending aday care center four months ago
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During visits to the center, they noticed that X preferredplaying alone with his action figures while the other childrenparticipated in "circle time." His parents also report that hewill occasionally say the names of a few cartoon characterswhen he recognizes them on TV, but he has never spoken tothem directly.
The parents are also confused about his ability to hear. Herarely responds when they call his name, but seems to hearsoft environmental sounds well.
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Otherwise, he has been healthy and motor development hasbeen normal. In the office he seems happy, but when you
point at a poster of Barney and say, "Look!", he does not lookin the direction of your point. X's mother is also unable toget him to look at Barney.
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DEPARTMENT OF PEDIATRICSDIVISION OF GENERAL PEDIATRICS
Early Detection of ChildrenEarly Detection of Childrenwith Autism Spectrumwith Autism Spectrum
DisordersDisordersEric Spiegel, PGY5
(with overwhelming assistancefrom Paul Carbone)
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Autism Spectrum DisordersAutism Spectrum Disorders
HigherFunctioning LowerFunctioning
Asperger
DisorderPDD-NOS
Autistic
Disorder
Group of neurodevelopmental disorders characterizedby impairment in social interaction andcommunication as the presence of ritualistic and
stereotyped behavior
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DSM IV Criteria for Autistic DisorderImpairment in Social Interaction (1) Impairment in the use of nonverbal behavior; (2)
Lack of spontaneous sharing; (3) Lack ofsocial/emotional reciprocity; (4) Failure to developpeer relationships
Impairment in Communication (1) Delay in or lack of development of spoken
language & gestures; (2) Impairment in the ability toinitiate or maintain conversation; (3) Repetitive &idiosyncratic use of language; (4) Lack of pretendplay
Restricted Repertoire of Activity and Interests 1) Preoccupation with restricted patterns of interest;
(2) Inflexible adherence to routines; (3) Repetitivemovements; (4) Preoccupation with parts of objects
DSM-IV TR
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Frequent Associated Findings Intellectual disability (formerly mental
retardation), 41% (Rice, 2009)
Psychiatric conditions Anxiety, depression, ADHD, Mood disorder
Medical conditions Seizures, sleep problems, gastrointestinal
problems
Macrocephaly (Courchesne, 2003)
Motor symptoms (Fornier, 2010)
Sensory symptoms (Watling, 2001)
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Autism Spectrum DisordersAutism Spectrum DisordersEpidemiologyEpidemiology
One of the most common developmentaldisabilities
US Prevalence of 1 in 110
Sex ratio (M:F) 4:1
Tenfold increase over last 20 years
Rice, 2009
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Why the increase in prevalence?
Possible explanations for ten foldincrease over last 20 years:
Changing criteria and diagnosticcategories
Eligibility for special education in 1991
Increased public awareness Better screening tools
?????
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Etiology of ASDs Word of the day - HETEROGENEITY
Primarily a genetic disease with modest
environmental buffering(Shaefer, 2008)
High concordance in monozygotic twins
Environmental risk factors - prenatal
Many candidate genes involved in synapticconnectivity
Rare genetic mutations, chromosomalabnormalities and copy number variations = 10%(Abrahams, 2008) to 40% (Schafer, 2006)
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Genesnot vaccines
No causal association between measles
vaccines and the development of autism No causal association between thimerosal
containing vaccines are not causal factorsin the development of autism
Vaccines do not overwhelm the immunesystem
Offit, 2008
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What is the average age of ASDdiagnosis in the US?
4 years old
At what age is therapy for ASD most
effective?
Before 4 years old
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Rationale for early diagnosis Early intensive intervention
may result in substantially
better outcomes (NationalResearch Council, 2001)
Wait and see approachoften breeds parentaldiscontent, resentment and
anger (Howlin,1999)
Allows counseling regardingrecurrence risk
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Ozonoff, 2008
How early can autism be diagnosed?
Signs of autism emerge over the first 18 -24 months and are not present at birth
Difficult because of different patterns of
symptom emergence (heterogeneity!)
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Ozonoff, 2008
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Zwaigenbaum, 2009
What do we know about the earlysigns?
Early retrospective studies (parents)
Some recall developmental differences inthe first few months of life
Most are concerned between 12 - 18 mos
Analysis of first birthday home videossuggest that many children laterdiagnosed with ASD
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Zwaigenbaum, 2009
What do we know about the earlysigns? Prospective studies (high risk infants)
By 12 - 18 months differences in the followingdomains:
Visual
Motor
Play
Social-Communication
Language
General cognitive development
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The role of the medical home in earlyThe role of the medical home in earlyidentification of children with ASDidentification of children with ASD
Surveillance
Screening
Referral of children found to be at-risk
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AAP Councilon Children With Disabilities, 2006
What is developmental surveillance? flexible, longitudinal, continuous, and
cumulative process whereby knowledgeablehealth care professionals identify children who
may have developmental problems (all wellchild visits)
What is developmental screening?
the administration of a brief standardized toolthat aids the identification of children at riskof a developmental disorder (9, 18, 24 monthwell child visits)
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How do I perform surveillance forHow do I perform surveillance forASDsASDs??
Family history (siblings) = 1 point
Listen to parents/caregivers = 1 point Look for the early signs = 1 point
Language delay or odd use of language
Restricted interests, repetitive behaviors or
movements
Early social skill deficits
2 or more points = at-risk child
Johnson, 2007
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Early Social Skills Deficits inAutism Spectrum Disorders
1. Joint attention
2. Social orienting
3. Pretend (symbolic) play
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ASD Video Glossary
Joint Attention The act of engaging anothers attention to regard objects,
events, or other persons simply for the enjoyment of experiencesharing
How to test: Clinician directed:
Follow gaze (9)
Follow a point (12)
Look! (12)
Child directed:
Imperative pointing (12)
Declarative pointing (15)
Show an object (18)
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ASD Video Glossary
Joint Attention
Deficits in joint attention are the most
distinguishing characteristics of very youngchildren with autism (Wetherby, 2004)
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Early Social Skills Deficits inAutism Spectrum Disorders
1. Joint attention
2. Social orienting
3. Pretend (symbolic) play
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Social Orienting The ability to orient and acknowledge a verbal bid
for attention
How to test: Call out the childs name at 9 and 12 month
visit
Should respond by second try
Parents may be concerned that the child may bedeaf
Children with autism will be more attentive toenvironmental sounds
Nadiq, 2007
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Early Social Skills Deficits inAutism Spectrum Disorders
1. Joint attention
2. Social orienting
3. Pretend (symbolic) play
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ASD Video Glossary
Pretend Play The ability to transform objects and actions
symbolically; involves interactive social dialogue andnegotiation; and it involves role taking, script
knowledge, and improvisation Two types:
Simple (16 - 18 mos)
Complex (18 - 20 mos)
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ASD Video Glossary
Pretend Play
Young children with autism: Little interest in toys, prefer everyday items
If interested in toys, usually pay more attentionto parts rather than the whole
How to test: Ask about favorite toys and manner of play
(15, 18, 24 mos)
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More surveillance
language development
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Early Language Skills Deficits
Absent or atypical babbling (6 mos)
Lack ofprotoconversations (9 mos)
Lack or less jargoning (9 mos)
Absent or delayed speech (15, 18, 24 mos)
Language or more global regression in 25% - 30%,usually between 15 24 months of age
Atypical language
Echolalia, odd prosody, exceptional verbalmemory, pop-up words
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Initiating and Sustaining Conversation
Early deficits in social skills are the basis for laterdeficits in initiating and sustaining conversation
Conversations, when they occur tend to be one-sided
ASD Video Glossary
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More surveillanceMore surveillancerestricted or repetitiverestricted or repetitive
interests/activitiesinterests/activities
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Early Restrictive Interests,Stereotypies and Repetitive Behaviors
Odd preferred objects or intense need for
normal preferred object Stereotypies often are noticeable after 2
years of age
Not specific to ASDs
Some children engage in repetitivebehaviors and may protest violently whenattempts at transition are made
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Learn the signs, act earlyLearn the signs, act early
http://www.cdc.gov/ncbddd/actearly/
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Screening for AutismScreening for AutismSpectrum Disorders WithinSpectrum Disorders Within
the Medical Homethe Medical Home
Paul Carbone, MD
Assistant Professor of Pediatrics
University ofUtah
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The role of the medical home in earlyThe role of the medical home in earlyidentification of children with ASDidentification of children with ASD
Surveillance
Screening
Referral of children found to be at-risk
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AreAre Autism Spectrum Disorders preventable orAutism Spectrum Disorders preventable orameliorated if identified early?ameliorated if identified early?
Early intensive intervention may result insubstantially better outcomes (National Research
Council, 2001)
Many studies demonstrate significant gainsin cognitive, language and adaptive skills in
children who receive early and intensiveintervention (Lovaas, 1987)
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Current AAP recommendations onCurrent AAP recommendations onASD screeningASD screening
Autism-specific tool should beadministered to all children at the 18 and24 month visits
Why start screening at 18 months?
Why screen twice? Do I really need to screen EVERY child?
AAP Council on Children With Disabilities, 2006 and 2007
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You can do thisYou can do this
Screening tests only take a few
minutes to complete
Easily scored
Failed screen indicates need forfurther evaluation, NOT A DIAGNOSIS
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What tool will you use?What tool will you use? Not many options (currently):
6 months 24 months:
Communication and Symbolic BehavioralScales Developmental Profile (CSBS DP) Infant-Toddler Checklist
Toddlers and Preschoolers:
Modified Checklist for Autism in Toddlers (M-CHAT)
Preschoolers and School Aged:
Childhood Asperger Syndrome Test (CAST)
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The Modified Checklist for AutismThe Modified Checklist for Autismin Toddlers (Min Toddlers (M--CHAT)CHAT)-- AdvantagesAdvantages
parent completed, 23 questions
16-48 months
5 - 10 minutes to complete, easy to score(pass/fail)
Sensitivity 0.85-0.87, specificity 0.93-0.99
Available in multiple languages Free!! www2.gsu.edu/~psydlr/
Manual overlay or electronic scoring
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The Modified Checklist for AutismThe Modified Checklist for Autismin Toddlers (Min Toddlers (M--CHAT)CHAT) -- Disadvantages
A two-step screening tool
1st step M-CHAT 2nd step Follow up interview
Only for those who fail 1st step
Additional time/expertise required to administer
What if we dont use the the follow upinterview?
Poor specificity (false positives), potential for overreferral
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To score the first step of the M-CHAT
Use the entire screen
Failed screen: 3 or more items total
2 or more critical items
If a child fails the first step, proceedto the second step (follow-upinterview)
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For example
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For example
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For example
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For example
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When Concerns Arise FromWhen Concerns Arise FromSurveillance or ScreeningSurveillance or Screening
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The role of the medical home in earlyThe role of the medical home in earlyidentification of children with ASDidentification of children with ASD
Surveillance Screening
Referral of children found to be at-risk
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Interpreting Screening Tests toInterpreting Screening Tests toFamiliesFamilies
Prepare families for screening in a positive
way For failed screens or parental concerns:
affirm the value of their worries orobservations
Stay away from diagnostic labels wheninterpreting screening tests
Offer ongoing support for those who do notfollow your recommendations
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When to take actionWhen to take action
Surveillance score >2
Score 1 for each risk factor: Sibling with ASD
Parental concern
Other caregiver concern
Primary care provider concernOR
Failed ASD specific screening test
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What actions should I take?What actions should I take? Simultaneous referrals:
1. Comprehensive ASDEvaluation
Interdisciplinary team
Independent evaluations with separatesubspecialists
2. Audiology
3. Early intervention ( 3yrs)
Provide parental education
Schedule follow up visit
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You can do itbut you need aYou can do itbut you need asystemsystem
What will the process look like?
Split into two separate visits The well visit with the M-CHAT The second visit for follow up interview, referrals/counseling
What educational materials will you use?
Who will you refer to? Early Intervention or Special Education
Interdisciplinary team versus a subspecialist
Audiology referral or within a comprehensive teamevaluation
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The Comprehensive ASD EvaluationThe Comprehensive ASD Evaluation--Ideally an interdisciplinary effortIdeally an interdisciplinary effort
1. Health, developmental and behavioral history
2. Physical examination3. Developmental and/or psychometric evaluation
4. Determination of the the presence of a DSM IVdiagnosis
5. Assessment of parents knowledge of ASDs,
coping skills and available resources and supports6. A laboratory evaluation to search for a known
etiology or coexisting condition
Johnson, 2007
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Local teams that perform ASDLocal teams that perform ASDevaluationsevaluations
University ofUtah Child and Adolescent
Specialty Clinic, University ofUtah Child Development Clinic, Utah Department
of Health
Children With Special Health Care Needs
Satellite Clinics, Utah Department of Health
The Childrens Center
www.medicalhomeportal.org
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Subspecialists with expertiseSubspecialists with expertise
CNS-Children's Neurodevelopmental
Services, Inc Behavioral and Developmental Pediatrics,Division of General Pediatrics, Departmentof Pediatrics, University ofUtah
Others found on the Medical Home Portal
www.medicalhomeportal.org
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Parental Educational MaterialsParental Educational Materials Understanding ASDs
Websites:
Centers for Disease Control and prevention http://www.cdc.gov/ncbddd/autism/
American Academy of Pediatrics
http://www.aap.org/healthtopics/Autism.cfm
Utah Parent Center http://www.utahparentcenter.org/
Medical Home Portal
www.medicalhomeportal.org