Autism Spectrum Disorders 9.20

8/8/2019 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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1. Joint attention

2. Social orienting



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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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1. Joint attention

2. Social orienting



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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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Surveillance

Screening



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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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Surveillance Screening



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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



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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


Autism Spectrum Disorders 9.20

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