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  Research Findings  Red Flags  Screening tools

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

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  Use of other’s body to communicate U f th ’ b d t i t  Odd intonation  Lack of pretend and imitative play  Poor conversational skills

“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

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 Pr evalence  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

What Causes Autism? Genes play a role in autism 100 Autism % of twins with trait 80 60 40 % 20 0 Identical twins Fraternal twins

Genes play a role in autism 100 Autism spectrum % of twins with trait 80 Autism 60 40 % 20 0 Identical twins Fraternal twins Genes play a role in autism 100 Social and/or language % of twins with trait 80 Autism spectrum 60 Autism 40 % 20 0 Identical twins Fraternal twins

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: 16 ‐ 35% 6 %  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

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

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

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  To look at the emergence of symptoms T l k t th f t  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

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?

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

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:  Have words (18 words by 18 months) including “mine” H d ( 8 d b 8 h ) i l di “ i ”  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)

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

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

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 g g children h ld  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  Subset of 6 items was determined to be “critical” S b t f 6 it d t i d t b “ iti l”  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)