Overview Clinical Features Diagnostic & Statistical Manual IV - - PDF document

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Overview Clinical Features Diagnostic & Statistical Manual IV - - PDF document

Jessica Greenson, Ph.D. Autism Center University of Washington Overview Clinical Features Diagnostic & Statistical Manual IV (DSM IV) ( ) Prevalence Course of Onset Etiology Early Recognition Early Recognition


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SLIDE 1

Jessica Greenson, Ph.D. Autism Center University of Washington

Overview

  • Clinical Features

( )

  • Diagnostic & Statistical Manual‐IV (DSM‐IV)
  • Prevalence
  • Course of Onset
  • Etiology
  • Early Recognition

Early Recognition

  • Research Findings
  • Red Flags
  • Screening tools
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SLIDE 2

The Autism Spectrum

DSM‐IV Criteria for Autism

3 domains of impairment: 3 domains of impairment:

  • Reciprocal social interaction

(2 or more symptoms)

  • Language and communication

(1 or more symptoms)

  • Restricted, repetitive, and stereotyped

behaviors, interests, and activities (1 or more symptoms)

  • = 6 symptoms total
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SLIDE 3

Reciprocal Social Interaction

Impairments in: Impairments in:

  • Eye contact
  • Facial expressions
  • Shared enjoyment
  • Showing, directing attention (joint

attention)

  • Initiating interactions
  • Peer relationships

Language & Communication

Impairments include: Impairments include:

  • Delayed and/or atypical development
  • Pronoun reversal and echolalia
  • Stereotypic language
  • Impaired pragmatic language

U f th ’ b d t i t

  • Use of other’s body to communicate
  • Odd intonation
  • Lack of pretend and imitative play

 Poor conversational skills

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SLIDE 4

“Category C” Impairments

Restricted, repetitive, and stereotyped behaviors and interests:

  • Motor: flapping, spinning
  • Sensory interests
  • Repetitive use of objects

Repetitive use of objects

  • Insistence on sameness
  • Rituals
  • Intense interests

Asperger’s Disorder

 A form of high‐functioning autism in which there

is NO delay in early language

 Cognitive skills average to above average  Key feature: impairment in social function

& restricted range of interests and activities

 Usually detected later in development

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SLIDE 5

PDD:NOS

 Severe and pervasive impairment in social and

Severe and pervasive impairment in social and communication skills or stereotyped behavior, interests and activities

 Does not meet criteria for another PDD  Often used when onset after 3  Less severe presentation

p

Prevalence

  • Occur in 1 per 110 (in the U.S.)

Occur in 1 per 110 (in the U.S.)  6x more common than deafness, childhood cancer & Down Syndrome  Current estimates are 7‐10x higher than in 1970s

  • 4 males: 1 female
  • Females tend to be more severely affected

 Affects all social classes and racial/ethnic groups

  • Course of Onset
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SLIDE 6

What Causes Autism?

Genes play a role in autism

% of twins with trait

100 40 60 80 Autism Identical twins

%

20 Fraternal twins

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SLIDE 7

Genes play a role in autism

% of twins with trait

100 40 60 80 Autism spectrum Autism Identical twins

%

20 Fraternal twins

Genes play a role in autism

% of twins with trait

100 40 60 80 Social and/or language Autism spectrum Autism Identical twins

%

20 Fraternal twins

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SLIDE 8

Sibling Risk Rates

  • 4.5% for autism

4.5% for autism

  • Recurrence risk rate for sibs of females is twice

that of sibs of males with autism

  • Recurrence risk rate for a third child:

6 % 16‐35%

  • Risk rates for distant relatives: < 1%

Broader Phenotype

  • “Lesser variant”
  • 10‐25% of sibs do not meet criteria for autism,

but have:

  • Language and communication deficits
  • Social impairments

Learning disabilities

  • Learning disabilities
  • Autism traits are continuously distributed in the

population

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SLIDE 9

Genes + Environment

  • Viral infection
  • Other infections
  • Injury (trauma)
  • Chemical toxins
  • Other?

Genes + Environment

  • Rubella infection
  • Pregnancy complications
  • Thalidomide, valproic acid,

cocaine exposure

  • MMR vaccine

MMR vaccine

  • Thimerosal
  • Diet
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SLIDE 10

Early Recognition Home Videotape Studies

Typical 1 year old 1 year old with autism

Osterling & Dawson, 1994; Werner et al., 2000; Osterling et al., 2002

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SLIDE 11

Infant Sibling Studies

Baby Sibling Research Consortium I f t B i I i St di (IBIS) Infant Brain Imaging Studies (IBIS)

 Siblings are at higher risk of developing autism than

general population

 Recruit infants siblings of children with ASD

T l k t th f t

 To look at the emergence of symptoms  To look at predictors of diagnosis

8 ‐ 24 months: early risk onset patterns

  • Early signs from 8‐18 months

Early signs from 8 18 months

  • 30‐50% of children with signs will not meet ASD criteria

at 36 months

 BUT they may have other impairments

  • No signs at 12 mos, but 10% have regression (average

age 19 months)

  • Loss of language
  • Onset after 2 years has been observed
  • Initially mild symptoms with gradual increase
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SLIDE 12

Limitations of early identification research: timing is everything

0‐11 months: no clear ASD‐

specific symptoms

12‐24 months: early signs of

risk emerge g

24‐48 months: reliable ASD

diagnosis possible (in specialized settings)

What are the Red Flags in Infancy and Early Childhood?

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SLIDE 13

Red Flags 6‐9 months

 Lack of social smile, eye contact, facial expression

Lack of social smile, eye contact, facial expression

 Not vocalizing (b, d, m)  At 6‐9 babies should:

 Babble  Wave  Understand “no” and name  Reach for objects  Imitate sounds

Red Flags 9‐12 months

 Failure to orient to name or words

Failure to orient to name or words

 Lack of social smile, eye contact, facial expression +

GESTURES

 Limited vocalizing & babble  At 9‐12 babies should:

 Have speech like babble

p

 Follow simple directions (give me, show me)  Be active listeners  Play social games

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SLIDE 14

Red Flags 12‐18 months

 Little vocalization/odd vocal/or no words by 18

/ / y months

 Lack of understanding of language  Eye contact, facial expression + GESTURES (limited)  Limited vocalizing & babble  At 12‐18 babies should: H d ( 8 d b 8 h ) i l di “ i ”

 Have words (18 words by 18 months) including “mine”  Coordinate words w/EC  Imitate words and actions  Point to objects (receptive language)

Red Flags 18‐24 months

 Limited language/communication fx/intonation

g g

 No 2 word combos by 2  Inability to follow directions  Overly attached to objects  At 18‐24 toddlers should:

 Have a blossoming vocabulary (50 min)  Label objects, protest, describe, pronouns

Label objects, protest, describe, pronouns

 Combine words  Ask simple questions  Demonstrate functional and symbolic play (placeholder)  Imitate the actions of others (delayed)

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SLIDE 15

Red Flags 24‐36 months

 Lack of understanding of directions  Minimal vocabulary, single word speech  Repetitive play  Difficulty with transitions  At 2‐3 years preschoolers should:

 Have 500 words  Speak in phrases  Ask and answer “wh” questions  Ask and answer wh questions  Engage in to and fro conversation  Have an interest in peers  Engage in novel play sequences  Understand the emotions of others

Red Flags 3‐4 years

 Not understanding directions and questions

Not understanding directions and questions

 Not using plurals, action words, changing verb tenses,

mixing pronouns

 At 3‐4 years children should:

 Speak in sentences with varied vocabulary  Tell stories  Ask questions and show curiosity  Share with others  Seek out companionship/have conversation

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SLIDE 16

Red Flags 4‐6 years

 Not able to deliver a simple message

p g

 Unable to id objects by function or category  Not asking questions  Lack of imaginative/symbolic play  Unable to play simple games (1:1 and group)  At 4‐6 years children should:

 Speak in full/clear sentences/be conversational  Speak in full/clear sentences/be conversational  Define words/ask “why”  Behave differently depending on environment/person  Show empathy  Indicate preferred playmates

AAP Guidelines for Developmental Surveillance and Screening

Developmental surveillance be incorporated at every

well‐child preventive care visit.

Any concerns raised during surveillance should be

promptly addressed with standardized developmental screening tests.

Developmental screening tests should also be Developmental screening tests should also be

administered at the 9‐, 18‐, and 24 or 30‐month visits

Autism specific tool at 18 and 24 or 30 months

 Pediatrics 2006/2007

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SLIDE 17

Screening

 Level 1: Designed for population based  Level 1: Designed for population based

screening

 Broad based approach  To identify children with unrecognized or

ambiguous symptoms

 Level 2: Targeted screening of symptomatic

h ld g g children

 For children where already some clear

evidence of delay

Level 1 Screening Instruments

 Parent report questionnaires

 The Infant Toddler Checklist (ITC)  The Infant Toddler Checklist (ITC)

 12 months

 Early Screening for Autistic Traits (ESAT)

 14‐24 month olds

 Modified‐Checklist for Autism in Toddlers (M‐CHAT)

 24 months and older

S b t f 6 it d t i d t b “ iti l”

 Subset of 6 items was determined to be “critical”  Cutoff criteria was set to 2 critical items, or any 3 items

  • The Social Communication Questionnaire (SCQ)
  • Caregiver questionnaire
  • Age 4 to adult (2 versions)
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SLIDE 18

M‐CHAT Critical Items

1 Does your child take an interest in other children? 1. Does your child take an interest in other children? 2. Does your child ever use his/her index finger to point, to indicate interest in something? 3. Does your child ever bring objects over to you to show you something? 4. Does your child imitate you? (e.g., you make a face— will your child imitate it?) 5. Does your child respond to his/her name when you call? 6. If you point at a toy across the room, does your child look at it?

Level 2 Screening Instruments

  • The Screening Test for Autism in 2 year olds (STAT)

g y ( )

  • Direct assessment
  • Intended for children already suspected of having ASD
  • Brief, easier to score and administer
  • The Childhood Autism Rating Scale (CARS)
  • Direct assessment
  • Age 2‐5
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SLIDE 19

Why is Early Detection Important? p

 50% of parents report that they suspected

a problem before their child reached 1‐ year of age

 Autism is often not diagnosed until

children reach 3‐4 years of age

 Research suggests that children who  Research suggests that children who

receive intervention by 2‐3 years of age have better outcomes

b7

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SLIDE 20

Slide 38 b7 I might highlight this point ... different color text, etc.

bcolle, 3/9/2010

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SLIDE 21

Early Start Denver Model

 Developed by Rogers and

Dawson Dawson

 Comprehensive

intervention program and curriculum

 Integrates developmental

and behavioral and behavioral approaches

 Appropriate for children

as young as 12 months through preschool age

 Funded by NIH STAART Centers program  Conducted at University of Washington  Dawson, PI in collaboration with Sally Rogers, UC Davis  All children below 2.5 years of age when intervention began  Randomized study  2 year intervention 25 hours per week (20 therapist  2 year intervention – 25 hours per week (20 therapist‐

delivered, 5 parent‐delivered)

 Outcome measures include ERPs to faces, speech, and EEG

coherence

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SLIDE 22

Effects of intervention on IQ (Mullen)

p < .05 p < .05 p < .05

Dawson et al., Pediatrics, 2010

Effects of intervention on receptive language

p < .051 p < .05

Dawson et al., Pediatrics, 2010

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SLIDE 23

Effects of intervention on expressive language

NS p < .05

Dawson et al., Pediatrics, 2010

Effects of intervention on adaptive behavior (Vineland)

90 60 70 80 neland Composite Score Intervention Community p < .05

NS

40 50 Baseline 1 year 2 years Vin

Dawson et al., Pediatrics, 2010

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SLIDE 24

Changes in diagnosis Group

PDD Autism Autism PDD

Group

(worsened) (improved) Community

23.8% 4.8%

ESDM

8 3% 29 2%

ESDM

8.3% 29.2%

p < .05