Assessment and Diagnosis of ASD: - PowerPoint Presentation

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Assessment and Diagnosis of ASD:Best practices

Statewide CCO Learning CollaborativeApplied Behavioral AnalysisJanuary 9 2017

Pr. Eric FombonneProfessor of PsychiatryDirector of Autism Research, Institute for Development & DisabilityOregon Health & Science University

Early markers:Developmental trajectories in ASD

6 12 18 24 age in months

normal

early ‘onset’

fluctuating skill acquisition

‘regression’

childhood disintegrative disorder

Persistent deficits in social communication and social interaction across contexts, not accounted for by general developmental delays, and manifest by all 3 of the following: 1. Deficits in socio-emotional reciprocity

2. Deficits in nonverbal communicative behaviours used for social interaction 3. Deficit in developing and maintaining relationshipsRestricted, repetitive patterns of behaviour, interests, or activities as manifested by at least 2 of the following:

1. Stereotyped or repetitive speech, motor movements, or use of objects 2. Excessive adherence to routines, ritualized patterns of verbal or nonverbal behaviour, or excessive resistance to change 3. Highly restricted, fixated interests that are abnormal in intensity or focus

4. Hyper- or hypo-reactivity to sensory input or unusual interests in sensory aspects of environment

C. Symptoms must be present in early childhood (but may not become fully manifest until social demands exceed limited capacities

D. Symptoms together limit and impair everyday functioning

Must meet A, B, C and D, currently or by history

DSM 5 criteria for Autism Spectrum Disorder

Language/communication abnormalities

No babbling, language delayNo compensation by alternate modes of communicationNo pointing (protodeclarative

vs protoimperative)No gestures (nodding, shaking, waving bye-bye, etc..)

Receptive language

Pronominal reversal

Neologisms, idiosyncratic sentences

Conversation abnormalities

Alteration of the pragmatic aspectsLiteral understanding

Social interaction abnormalitiesPoor eye gaze and social smiling

No social orientation, does not respond to nameAtypical greeting behaviors

No or infrequent affectionate behaviorsNo social play No offering/seeking comfort

Reduced shared

enjoyement

Reduced facial and affect expressions

Difficulty in emotional recognition

Inappropriate behaviors/remarks with strangersLack of friendships, loner

Repetitive behaviors/Unusual interests

Hand and finger mannerismsUnusual sensory reactionsUnusual attachment to objects (metal objects,…)

Non functional use of objects/toys (lining up,…)Lack of imagination

Obsessive

behaviors

, rituals

Resistance to change

Insistance on samenessRigid, inflexible routinesOdd pursuitsCircumscribed interests

Challenges in the diagnostic processPhenotypic heterogeneity:

Same age children with the same diagnosis look very different Child with ASD looks very different at different ages Global

development level may or not be delayed Language may or not be delayed Parents caregivers may or not be " good" informants

Variable

knowledge of typical normal development

Spontaneous

compensatory behaviors masking child deficits

Familial/cultural dynamics and interpretations Oversimplistic explanations: child is misbehaving, or anxious/timid, parenting seems the problem, other detrimental ‘interpretations’,…

Rationale for using standardized diagnostic interviewsClinicians use idiosyncratic and inconsistent approaches

in coveragein weighing each symptomin combining symptoms in diagnosesReliability (agreement between clinicians) is low unless they use standardized diagnostic techniques

Need for structure and standardizationto avoid ‘illusory correlations’, confirmatory bias,…to organize coverage, ways of evaluating symptoms, combining symptoms into diagnoses, resolving discrepancies

Can be achieved by existing interviews or standardization of the clinical approach

ASD evaluation tools

Diagnostic check-lists: Childhood Autism rating Scale (CARS), etc..

Standardized diagnostic tools:ADI-R: Autism Diagnostic Interview-Revised (parent/caregiver interview; ~ 2 hours)ADOS-G: Autism Diagnostic Observational Schedule-Generic, ADOS-2 (direct child observation; 30-45 minutes)

Others tools: DISCO, 3Di, STAT, ASI…

Administration requires clinical background

and

specific

ad hoc trainingSymptom check-listsSocial Reciprocity Scale (SRS; parent- or teacher-completed)

Autism Screening Questionnaire (ASQ), GARS,..Screening tools for toddlers: ESAT, M-CHAT

Other screening tools: SCQ, etc..

Diagnostic evaluation - 1There

is no biological test or marker for ASD Diagnostic principles: Require

multidisciplinary team: Peds/Psychiatry/Neuro + OT, Audiology, SLT, Psychology Specific diagnostic tools are preferred (ADOS, ADI) Combination

of

multi-informant/

data sources is necessary

Usual

steps are: Parent/caregiver interview (ADI) Direct observation of child (ADOS) Review of medical records and of day care/teacher reportsMedical history and examinationOther assessments are required to evaluate functional impairment and treatment needs:OT, SLP,

audiologyintellectual assessment and adaptive behavior (psychology)

Diagnostic evaluation - 2

Integration of data from different sources is necessary, including resolving discrepancies Mechanical reliance on scores (“above the cut-off“) is discouraged Differential diagnosis:

Mental retardation & developmental delays Anxiety disorder , OCD Severe ADHD Language disorders including

Semantic pragmatic disorder

Schizoid

disorder &

Sx

spectrum Subspecialty referrals must be considered when appropriate Feed-back to parents is a crucial piece

ASD Medical AssessmentAudiology

All children with developmental delays, especially social and language

Requires modifications of traditional test techniques and environments (e.g., operant test procedures)Electrophysiologic procedures are useful for estimating hearing sensitivity and for examining middle ear, cochlear, and VIIIth

nerve or auditory brainstem pathway

integrity

Evoked

otoacoustic

emissions are useful for examining cochlear (sensory) function, and is a frequency-specific, as well as a time- and cost-efficient procedureFrequency-specific auditory brainstem response (ABR) is the single most useful electrophysiologic procedure for use in estimating hearing thresholds, and has been demonstrated to be highly correlated with behavioral hearing thresholds in children who hear normally and in children who have sensorineural hearing loss.Committee on Infant Hearing of the American

Speech–Language–Hearing Association

ASD Medical Assessment Genetic Testing

For all patients

Chromosomal microarray: oligonucleotide array-comparative genomic hybridization (CGH)

or single-nucleotide polymorphism array

Conditional on findings

Deoxyribonucleic acid (DNA) testing for fragile X:

In males: to be performed routinely

In females: if indicators present (e.g., family history and phenotype)Methyl-CPG-binding protein 2 (MECP2) sequencing to be performed: for all females with autism spectrum disorders (ASDs)MECP2 duplication testing in males, if phenotype is suggestive

Phosphatase and tensin homolog (PTEN) testing only if the head circumference is >2.5 standard deviation (SD) above the mean American College of Medical Genetics and Genomics 2013

ASD Medical AssessmentOther laboratory tests

Metabolic disorders in ASDs represent “low incidence yet high impact.”No consensus on

what level of testing should be recommendedConsider if: lethargy, cyclic vomiting, early onset seizures, dysmorphic features, newborn screening not doneAmerican College of Medical Genetics and

the

Society for Inherited Metabolic Disorders in 2009

Mitochondrial testing

Electrolyte disturbances, anemia, lethargy, multisystem perturbations, regression, cyclic vomiting, dermatologic changes, poor growth, seizures, hypo-/dystonia, gastrointestinal dysfunction, microcephaly

Lead testingChildren with developmental delays, including Autism, even without frank pica, should be screened for lead poisoning National Center for Environmental Health of CDC, 1997No evidence:hair analysis, celiac antibodies, allergy testing

(food allergies for gluten, casein, candida, and other molds), immunologic or neurochemical abnormalities, micronutrients such as vitamin levels, intestinal permeability studies, stool analysis, urinary peptides, mitochondrial disorders (including lactate and pyruvate)

, thyroid function tests, or erythrocyte glutathione peroxidase studies

ASD Medical AssessmentBrain Imaging & EEG

Neuroimaging: not recommended routinely

American Academy of NeurologyPractice Parameter,Filipek 2000

More recently, brain MRI recommended when:

Abnormal neurologic examination/pre-existing or known

Neurologic

Disorder (26%)

Headaches (26%)Seizures (22%)Cooper et al., 2016EEG:not recommended routinelyadequate sleep-deprived EEG with appropriate sampling of slow wave sleep recommended if:clinical seizures or suspicion of subclinical

seizureshistory of regression (clinically significant loss of social and communicative function) at any age, but especially in toddlers and preschoolers

American Academy of NeurologyPractice Parameter,Filipek 2000

Co-occurring medical conditionsCommon childhood diseases

occur in child with ASD as in any other childMedical issues more frequently occurring in ASD

Seizures: early or late (puberty) onsetGastro-intestinal problems: constipation 20% , chronic diarrhea 19%Selective eaters ObesitySleep disturbances: 40-80%Risk of overshadowing

Psychiatric disorders occurring more frequently in ASD

In addition:Disruptive problems: SIB, aggression, property destructionTics, Tourette Syndrome: increasedGender Dysphoria: increased

Schizophrenia and bipolar disorder can occur in ASD individuals but the risk is not raised (except in some forms of syndromic autism such as 22q, 16q)

Disorder

Prevalence %

Any disorder

70

>= 2 disorders 41Social anxiety29ADHD28

Oppositional Defiant Disorder28Obsessive Compulsive Disorder17

Source: SNAP study, London – Simonoff et al. 2008

Common misconceptionsDiagnosis cannot be done before age 3.

Diagnosis requires the full battery ADI+ADOS+ other assessments. An ADOS test is sufficient to the diagnosis. When

a child has Fragile X (or Down´s or TS or any known genetic disorder), he cannot be diagnosed with ASD.

Common misconceptions cont’d

Because of its early onset, ASD cannot be newly diagnosed in adult life. An autistic syndrome in a child who is adopted, in foster care, or raised in a context of maternal deprivation, means his diagnosis should be ‘Reactive attachment disorder‘.

If parent endorses descriptions read aloud from the DSM, the child has surely an ASD. If 2 siblings are affected with ASD, they will show the same degree of severity.