The Nuts and Bolts of Diagnosing Autism Spectrum Disorders In Young Children Jessica Greenson, Ph.D. Autism Center University of Washington Overview Diagnostic Criteria Current: Diagnostic & Statistical Manual-IV (DSM-IV) Difficulties w/current criteria Diagnostic & Statistical Manual-V (DSM-V) Proposed changes Assessment Diagnostic Measures Differential Diagnoses Clinical vs. Educational Diagnosis 1
DSM-IV criteria reviewed 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 Variability in ASD Age of onset and/or detection Specific symptom expression Cognitive ability / IQ Adaptive ability Developmental changes in symptom expression Outcome varies from child to child 2
Changes proposed for DSM-5 One Autism = Autism Spectrum Disorders Purely defined by behaviors No longer a distinction between autism, PDD-NOS, Aspergers, etc. No distinction between etiology (Rett, Fragile X, idiopathic) New Social Communication Disorder diagnosis Predicted reactions to this change? DSM-V continued Number of domains DSM-IV: 3 domains DSM-V: 2 domains Social communication (Criteria must be met in EACH domain) Deficits in social-emotional reciprocity Deficits in nonverbal communication Deficits in developing and maintaining social relationships 3
DSM-V continued Repetitive behaviors (Must have or have had 2 of 4): Stereotyped or rep speech, motor movements or use of objects Excessive adherence to routines Highly restricted, fixated interests that are abnormal in intensity or focus Hyper or hypo reactivity to sensory input or unusual interest in sensory aspects of the environment Overview of Assessment Knowledge of Development Must understand behavior in a developmental context given strong association of autism and developmental delay Knowledge of typical development is critical in understanding the complexities of social, cognitive, language, and play development in individuals with autism Understanding behavior in context helps delineate treatment goals for child 4
How are ASDs Diagnosed? Interdisciplinary Team Medical examination Parent interviews Child observation Standardized testing Developmental Language Adaptive Behavior 5
Medical examination Developmental and family history Medical reasons for the child s behaviors Genetic testing Exam for genetic markers or dysmorphology Gather information re: possible co-morbidity and related symptoms Sleep, feeding, seizures Comorbid Disorders Mental retardation Anxiety disorders Depression Seizure disorders 6
Related Behaviors Sensory issues Attention deficit/hyperactivity Self-injurious behaviors Sleep and eating issues Parent Interview Autism Diagnostic Interview-Revised (ADI-R) Semi-structured Standardized Includes questions relevant to past and current functioning Toddler version Limitations for older and younger children Clinical interview 7
ADI-R Items How old was he when you first wondered if there might be something, not quite right about his/her social interactions or language development? When (child) wants to let you know something or wants to ask for something, how does he do it? Does he usually say what he wants, or does he gesture or mime, or does he point? Does he take you by the hand or wrist, or make noises or cry? ADI-R (Communication) Does he ever point spontaneously at things around him? Does he wave goodbye nod his head to mean yes? Does he ever imitate you or other people in the family? What about when you are not trying to get him to do so? Does he ever show you things that interest him? 8
ADI-R (Social) Does he play pretend games? When (child) is approaching someone to get him/her to do something or talk to him, does he smile in greeting?...if he is not smiling first, what does he do if someone else smiles at him? What does he think about other children of approximately the same age whom he does not know? Is he interested in them? ADI-R (Interests) Does he have any special interests or hobbies that are unusual in their intensity? Are there things that he seems to have to do in a very particular way or order? Does he have any mannerisms or odd ways of moving his hands or fingers? Will he play with the whole toy or does he seem to be more interested in a certain part of the toy. 9
Child Observation Autism Diagnostic Observation Schedule - Generic (ADOS-G) Semi-structured, play-based Measures social, communication, play, and category C behaviors 4 modules (+ toddler version) Age 15 mos. to 40 yrs ADOS Scoring 0: the behavior shows no evidence of abnormality as specified 1: the behavior is mildly abnormal or slightly unusual, but not necessarily grossly abnormal 2: the behavior is definitely abnormal in the way specified. The severity for coding abnormality at this level varies according to item. 3: when the behavior is markedly abnormal in a way that interferes with the interview 10
Cognitive/Developmental Testing WISC-IV/WPPSI-III Stanfor Binet tests Leiter-R Bayley Scales of Infant and Toddler Development 1-42 month olds 5 subscales (2 are parent interview only) Mullen Scales of Early Learning (MSEL) 1-68 month olds 4 subscales Rationale for Cognitive Assessment Crucial to the differentiation of ASD from other disabilities Achieve baseline data in order to measure treatment progress Individualization of treatment intervention 11
Limitations/Considerations for Cognitive Assessment Developmental assessment tend to include verbal/nonverbal assessments Caveats around interpretation of findings (i.e. behavior, test taking behaviors, previous intervention, etc.) Modify test administration use parents, tangible reinforcement Obtaining information from multiple sources Informally assess level of exploration and complexity of behavior Intellectual Disabilities in ASD 40-55% of children with ASD Children with autism 66.7% Children with PDD-NOS 12% Children with AS 0% Population-based study in California majority of children with Autism did not have ID (62.8%) Significant decrease from previous papers (67-90%) of classic autism 12
Stability of IQ in ASD Intellectual functioning can be stable over time (Eaves & Ho, 1996; Nordin & Gillberg, 1998) Most variability from early childhood to middle childhood (Sigman & McGovern, 2005) Impact of early intervention (Dawson et al., 2009) Greater stability at both ends of a normal distribution (Eaves & Ho, 1996) for children ages 7-11 Predictors of Outcome IQ Language Early intervention Early social communication skills Joint attention Imitation Toy play Age of diagnosis 13
IQ as predictor of language growth (N = 72) Dawson et al., 2003 IQ and symptom severity as predictors of language growth (N = 72) Dawson et al., 2003 14
Rates of language growth Dawson et al., 2003 Children with Autism vs. PDDNOS show different language growth trajectories Dawson et al., 2003 15
Adaptive Behavior Assessment Scales of Independent Behavior - Revised (SIB-R) Vineland Adaptive Behavior Scales-II teacher and parent forms; supplementary norms for autism AAMD Adaptive Behavior Scales (Lambert et al., 1993) Rationale for Assessment of Adaptive Behavior Assessment includes independence in the following: Communication Socialization Fine and gross motor development Self-help; daily living skills Community orientation Provides a supplement to more formal assessment Guides treatment planning, with a focus on the real world 16
Why is diagnosis so difficult? Arbitrary boundaries based on overt behavior Autism traits are continuously distributed over the population Children under 2 are now being seen Kids with Higher IQ Diagnosis is instrument and clinician dependent. Wide scatter across abilities Wide discrepancy of abilities across environments Kids are often not motivated to perform on tests Often discrepancies between others estimation of child s abilities Used to be kids were most symptomatic at 4-5 Now with early diagnosis and tx, less sx Why has rate of diagnosis increased? Criteria not written for kids this young 1 set of criteria for 2 year old and 9 year old or adult 17
Current State of Diagnosis High sensitivity and specificity for autism diagnosis in toddlers through elementary age children. Diagnoses are stable across time and expert clinician (for older children) Less for young children and adults. Collaboration and Communication Collaboration and communication take time Professionals are trained in varying structural and conceptual frameworks and use differing languages Developing collaborative teams requires time, flexibility and a commitment to learning other perspectives 18
Collaboration and Communication Families must be included in collaborative teams as experts on their own children Team members must share common goals and know their roles in reaching them Goals and roles need to be regularly reassessed and discussed Developing a Plan Family response to diagnosis Often overwhelming Each parent responds differently Often parents have a normal grief response: denial, anger, bargaining, acceptance Parents report a very high level of stress relative to parents with other special needs children, especially in preschool 19
Educational Diagnosis Definition: Autism is a developmental disability, generally evident before age 3, significantly affecting verbal and nonverbal communication and social interaction, and adversely affecting educational performance. A student who manifests the characteristics of autism after age 3 could be diagnosed as having autism. Other characteristics often associated with autism include, but are not limited to, engagement in repetitive activities and stereotyped movements, resistance to environmental change or change in daily routines, and unusual responses to sensory experiences. Characteristics vary from mild to severe as well as in the number of symptoms present. Diagnoses may include, but are not limited to, the following autism spectrum disorders: Childhood Disintegrative Disorder, Autistic Disorder, Asperger s Syndrome, or Pervasive Developmental Disorder: Not Otherwise Specified (PDD:NOS). Idaho Eligibility Criteria for Autism An evaluation team will determine that a student is eligible for special education services as a student with autism when all of the following criteria are met: An evaluation that meets the procedures outlined in Section 5 of this chapter has been conducted. The student has a developmental disability, generally evident before age 3, that significantly affects verbal and nonverbal communication and social interaction. The student is diagnosed as having a disorder in the autism spectrum by a school psychologist and a speech-language pathologist; or by a psychiatrist, a physician, or a licensed psychologist. The student s condition adversely affects educational performance. The student needs special education. 20
ASD resources www.cdc.gov/actearly www.firstsigns.org www.nichd.nih.gov/autism/ www.cdc.gov/nip/vacsafe/concerns/autism/autismmmr.htm www.autismspeaks.org Myers et al, (2007) Pediatrics 120: 1162-1182 Brock, Jimerson & Hansen (2006) Identifying, Assessing and Treating Autism at School. Springer 21