Overview. Clinical Features

Transcription

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

2 The Autism Spectrum DSM IV Criteria for Autism 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

3 Reciprocal Social Interaction Impairments in: Eye contact Facial expressions Shared enjoyment Showing, directing attention (joint attention) Initiating interactions Peer relationships Language & Communication Impairments include: Delayed and/or atypical development Pronoun reversal and echolalia Stereotypic language Impaired pragmatic language Use of other s body to communicate Odd intonation Lack of pretend and imitative play Poor conversational skills

4 Category C Impairments Restricted, repetitive, and stereotyped behaviors and interests: Motor: flapping, spinning Sensory interests 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

5 PDD:NOS 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 Prevalence 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

6 What Causes Autism? Genes play a role in autism % of twins with trait Autism 0 Identical twins Fraternal twins

7 Genes play a role in autism % of twins with trait Autism spectrum Autism 0 Identical twins Fraternal twins Genes play a role in autism % of twins with trait Social and/or language Autism spectrum Autism 0 Identical twins Fraternal twins

8 Sibling Risk Rates 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: 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 Autism traits are continuously distributed in the population

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 Thimerosal Diet

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

11 Infant Sibling Studies Baby Sibling Research Consortium Infant tbrain Imaging Studies (IBIS) Siblings are at higher risk of developing autism than general population Recruit infants siblings of children with ASD 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 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

12 Limitations of early identification research: timing is everything 0 11 months: no clear ASDspecific symptoms months: early signs of risk emerge months: reliable ASD diagnosis possible (in specialized settings) What are the Red Flags in Infancy and Early Childhood?

13 Red Flags 6 9 months 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 Lack of social smile, eye contact, facial expression + GESTURES Limited vocalizing & babble At 9 12 babies should: Have speech like babble Follow simple directions (give me, show me) Be active listeners Play social games

14 Red Flags months Little vocalization/odd vocal/or no words by 18 months Lack of understanding of language Eye contact, facial expression + GESTURES (limited) Limited vocalizing & babble At babies should: Have words (18 words by 18 months) h) including mine Coordinate words w/ec Imitate words and actions Point to objects (receptive language) Red Flags months Limited language/communication g fx/intonation No 2 word combos by 2 Inability to follow directions Overly attached to objects At toddlers should: Have a blossoming vocabulary (50 min) Label objects, protest, describe, pronouns Combine words Ask simple questions Demonstrate functional and symbolic play (placeholder) Imitate the actions of others (delayed)

15 Red Flags 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 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 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

16 Red Flags 4 6 years Not able to deliver a simple message 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 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 administered at the 9, 18, and 24 or 30 month visits Autism specific tool at 18 and 24 or 30 months Pediatrics 2006/2007

17 Screening Level 1: Designed for population based screening Broad based approach To identify children with unrecognized or ambiguous symptoms Level 2: Targeted screening of symptomatic children hld For children where already some clear evidence of delay Level 1 Screening Instruments Parent report questionnaires The Infant Toddler Checklist (ITC) 12 months Early Screening for Autistic Traits (ESAT) month olds Modified Checklist for Autism in Toddlers (M CHAT) 24 months and older Subset of 6 items was dt determined d 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)

18 M CHAT Critical Items 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) 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

19 Why is Early Detection Important? 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 receive intervention by 2 3 years of age have better outcomes b7

20 Slide 38 b7 I might highlight this point... different color text, etc. bcolle, 3/9/2010

21 Early Start Denver Model Developed by Rogers and Dawson Comprehensive intervention program and curriculum Integrates developmental 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 therapistdelivered, 5 parent delivered) Outcome measures include ERPs to faces, speech, and EEG coherence

22 Effects of intervention on IQ (Mullen) p <.05 p <.05 Dawson et al., Pediatrics, 2010 Effects of intervention on receptive language p <.051 p <.05 Dawson et al., Pediatrics, 2010

23 Effects of intervention on expressive language NS p <.05 Dawson et al., Pediatrics, 2010 Effects of intervention on adaptive behavior (Vineland) 90 Vin neland Composite Score NS p<.05 Intervention Community 40 Baseline 1 year 2 years Dawson et al., Pediatrics, 2010

24 Changes in diagnosis Group PDD Autism Autism PDD (worsened) (improved) Community 23.8% 4.8% ESDM 83% 8.3% 29.2% 2% p <.05