Early Indicators of Autism Spectrum Disorders

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Early Indicators of Autism Spectrum Disorders

• Donald Oswald, PhD
• Professor, Department of Psychiatry
• Virginia Commonwealth University

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Autistic Disorder DSM-IV

• Key Characteristics
• Qualitative impairment in social interaction
• Qualitative impairment in communication
• Restricted repetitive and stereotyped patterns of
  behavior, interests, and activities
• Differences present prior to three years

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Multisystem Developmental Disorder DC0-3R

• Can be applied to children under two years of age
• Features are descriptive, not criterion-based
• Does not require the range of relationship and
  communication difficulties seen in Autistic
  Disorder
• Used as alternative to PDD-NOS in children under
  two years
• ZERO TO THREE. (2005). Diagnostic classification
  of mental health and developmental disorders of
  infancy and early childhood Revised edition
  (DC0-3R). Washington, DC ZERO TO THREE Press.

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Multisystem Developmental Disorder DC0-3R

• Significant impairment in the ability to engage
  in an emotional and social relationship with a
  primary caregiver (e.g., the child may appear
  avoidant or aimless but may evidence subtle,
  emergent forms of relating or relate quite warmly
  intermittently).
• Significant impairment in forming, maintaining,
  and/or developing preverbal gestural
  communication or verbal and nonverbal symbolic
  communication

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Multisystem Developmental Disorder DC0-3R

• Significant dysfunction in the processing of
  visual, auditory, tactile, proprioceptive, and
  vestibular sensations, including hyperreactivity
  and hyporeactivity to sensory input.
• Significant dysfunction in motor planning
  (sequencing movements).

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Etiology

• ASDs are
• Biologically based neurodevelopmental disorders
• Highly heritable (recurrence risk is about 5 - 6
  percent when there is an older sibling with an
  ASD)
• Not caused by emotionally distant parenting

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Etiology

• Sometimes associated with a medical condition or
  known syndrome
• Fragile X
• Tuberous Sclerosis
• Phenylketonuria
• Fetal alcohol syndrome
• Angelman syndrome
• Rett syndrome

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Prevalence

• . . . the best estimate of current prevalence of
  ASDs in Europe and North America is approximately
  6 per 1000
• Johnson et al., 2007
• Prevalence by type
• Autistic Disorder - 2.2 per 1000
• Aspergers Disorder - 1.0 per 1000
• PDD-NOS - 3.3 per 1000
• Fombonne et al., 2006

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Age at identification

• the age at which a child was first identified by
  a health, education, or other community service
  provider as having an ASD. . .
• a clinical diagnosis noted in an abstracted
  evaluation
• eligibility for special education services under
  an ASD category
• an International Classification of Diseases, 9th
  Edition, code for an ASD
• Shattuck, P.T. et al., (2009). Timing of
  identification among children with an autism
  spectrum disorder Findings from a
  population-based surveillance study. Journal of
  the American Academy of Child and Adolescent
  Psychiatry, 48, 474-483

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Age at identification

• Median Age (yrs)
• Entire sample 5.7
• Sex
• Boys 5.6
• Girls 6.1
• IQ
• gt70
• Boys 6.5
• Girls 7.1
• lt70
• Boys 5.1
• Girls 5.5

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Developmental Screening

• Further evaluation is warranted if
• Does not babble or coo by 12 months
• Does not gesture (point, wave, grasp) by 12
  months
• Does not say single words by 16 months
• Does not say two-word phrases on his or her own
  by 24 months
• Has any loss of any language or social skill at
  any age.
• National Institute of Child Health and Human
  Development (NICHD)

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Screening and Early Identification

• AAP Recommended Surveillance and Screening
  Algorithm
• Evaluate risk factors
• Is there a sibling with autism spectrum
  disorders?
• Are parents concerned?
• Are other caregivers concerned?
• Is physician concerned?
• If at least two risk factors present and child is
  at least 18 months old, administer ASD specific
  screening tool.
• Johnson et al., 2007

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Screening and Early Identification

• AAP Recommended Surveillance and Screening
  Algorithm
• Regardless of risk factors, administer ASD
  specific screening tool at both the 18 month and
  24 month visits.
• Johnson et al., 2007

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Screening Instruments for ASD

• Modified Checklist for Autism in Toddlers
• Social Communication Questionnaire
• These are parent-report instruments for screening
  purposes only (not diagnosis)

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Modified Checklist for Autism in Toddlers (M-CHAT)

• M-CHAT
• Expanded American version of the original CHAT
• 23 questions using the original nine from the
  CHAT as its basis.
• Goal to improve the sensitivity of the CHAT and
  position it better for an American audience.
• Appropriate for children 18 - 24 months of age
• Yes/no answers convert to pass/fail responses.
• Child fails the checklist
• when 2 or more critical items are failed
• OR when any three items are failed.
• Available at www.firstsigns.org/
• Robins, D., Fein, D., Barton, M., Green, J.
  (2001

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M-CHAT critical items

• 2. Does your child take an interest in other
  children? (No)
• 7. Does your child ever use his/her index finger
  to point, to indicate interest in something? (No)
• 9. Does your child ever bring objects over to you
  (parent) to show you something? (No)
• 13. Does your child imitate you? (e.g., you make
  a face-will your child imitate it?) (No)
• 14. Does your child respond to his/her name when
  you call? (No)
• 15. If you point at a toy across the room, does
  your child look at it? (No)

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Social Communication Questionnaire

• A parent report screening measure for autism
  spectrum disorders (ASDs)
• Based on the Autism Diagnostic Interview-Revised
  (ADI-R).
• Use evaluated in an autism specialty clinic and a
  general preschool developmental clinic
• EAVES, WINGERT, HO, MICKELSON, 2006

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The Social Communication Questionnaire

• 40 items, Yes/No format
• 10 minutes to complete
• Appropriate for individuals whose CA is at least
  4 years (possibly CA at least 2 years) and whose
  MA is at least 2 years
• Current and Lifetime forms Lifetime generally
  used for diagnostic screening
• Lifetime score of 15 or greater indicates
  possible ASD, need for comprehensive evaluation

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Social Communication Questionnaire

• Overall sensitivity was .71, the same for both
  clinics
• Specificity was better for the preschool clinic
  (.62) than for the autism clinic (.53) reflecting
  fewer false-positives in the former.
• The hit rate was 65 with 28 of the children
  with autism missed by the SCQ at a cutoff score
  of 15 (false negatives) and 38 of the
  nonautistic misidentified as having an ASD
  (false-positives).
• EAVES, WINGERT, HO, MICKELSON, 2006

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Screening Follow-up

• Refer for diagnostic evaluation
• Developmental pediatrician
• Specialty clinic
• If developmental delays present, refer for
  evaluation for Early Intervention services while
  awaiting diagnostic clarification

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Practitioner Review Diagnosis of autism spectrum
disorder in 2- and 3-year-old children

• Multidisciplinary diagnostic assessment
• detailed information on developmental history
• parents' descriptions of the everyday behaviour
  and activities of the child
• direct assessment of the child's social
  interaction style, including where possible with
  age peers
• formal assessment of communicative, intellectual
  and adaptive function
• Charman, T. Baird, G. (2002). JOURNAL OF CHILD
  PSYCHOLOGY AND PSYCHIATRY, 43, 289 

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Practitioner Review (cont.)

• Clinical assessments need to concentrate on early
  non-verbal social communication behaviours that
  characterise children with ASD from the second
  year of life
• social orienting
• joint attention
• Imitation
• play
• reciprocal affective behaviour.

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Practitioner Review (cont.)

• The particular pattern of symptoms in a
  2-year-old with ASD may differ from that seen at
  the more prototypic age of 4 or 5 years.
• e.g., overt repetitive and stereotyped behaviours
  may be less notable, although where these are
  seen alongside the social and communicative
  impairments they are highly indicative of ASD.

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Practitioner Review (cont.)

• The use of standardised assessment instruments
  and the strict application of the DSM and ICD
  diagnostic criteria need to be employed with
  caution, as an expert clinical view has been
  shown to be more accurate.
• An important aspect of early diagnostic
  consultation is an open and straightforward
  approach to the negotiation of the diagnostic
  view with parents over time.

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Autism Diagnostic Observation Schedule - Generic
(ADOS-G)

• Developed by Catherine Lord, Michael Rutter, and
  Pamela DiLavore
• Structured play interview conducted with the
  child
• Designed to provide explicit presses for language
  and social behaviors that are challenging for
  children with autism

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Key Behaviors Coded in Module One - Communication

• Frequency of vocalization directed to others
• Stereotyped / Idiosyncratic words or phrases
• Use of others body to communicate
• Pointing
• Gestures

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Key Behaviors Coded in Module One - Social

• Unusual eye contact
• Facial expressions directed to others
• Shared enjoyment in interaction
• Showing
• Spontaneous initiation of joint attention
• Response to joint attention
• Quality of social overtures

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Key Behaviors Coded in Module One - Play

• Functional play with objects
• Imagination / Creativity

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Key Behaviors Coded in Module One - Stereotyped
Behaviors

• Unusual sensory interest in play material /
  person
• Hand and finger and other complex mannerisms
• Unusually repetitive interests or stereotyped
  behaviors

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Key Behaviors Coded in Module Two Communication

• Amount of social overtures
• Stereotyped / idiosyncratic words or phrases
• Conversation
• Pointing to express interest
• Descriptive, conventional, instrumental gestures

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Key Behaviors Coded in Module Two Social
Interaction

• Unusual eye contact
• Facial expressions directed to others
• Spontaneous initiation of joint attention
• Quality of social overtures
• Quality of social response
• Amount of reciprocal social communication
• Overall quality of rapport

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Key Behaviors Coded in Module Two Play

• Imagination / Creativity (flexible, creative use
  of objects in a representational manner . . . Use
  or description of figures or dolls as agents of
  action)

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Key Behaviors Coded in Module Two Stereotyped
Behaviors / Restricted Interests

• Unusual sensory interest in play material /
  person
• Hand and finger and other complex mannerisms
• Unusually repetitive interests or stereotyped
  behaviors

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Principles of Good Practice

• Components of diagnostic evaluation
• Diagnosis
• rationale for the diagnosis
• discussion of the implications of the childs
  strengths and challenges
• treatment and education recommendations
• follow-up to support the implementation of the
  recommendations.

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Principles of Good Practice

• Family-centered practice
• including the parents as full partners in the
  assessment team
• communicating respect for their expertise and
  their contribution to the assessment and
  treatment planning process.
• Transdisciplinary practice
• Community collaboration