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Beyond Screening: Identifying Autism Spectrum Disorders in Primary Care Practice


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Title: Beyond Screening: Identifying Autism Spectrum Disorders in Primary Care Practice

Beyond Screening Identifying Autism Spectrum
Disorders in Primary Care Practice
  • Modified from the Educating Practices in the
    Community (EPIC) Program
  • for
  • The Child Health and Development Institute
  • Sarah Schlegel, M.D.
  • Developmental-Behavioral Pediatrician,
    Connecticut Childrens Medical Center
  • Assistant Professor of Pediatrics, University of
    Connecticut School of Medicine
  • Jennifer Twachtman-Bassett, M.S. CCC-SLP
  • Autism Clinical Specialist and Research
  • Connecticut Childrens Medical Center

  • Sarah Schlegel and Jennifer Twachtman-Bassett do
    not have any actual or apparent conflict of
    interest related to the content of their
    presentation they do not have financial
    interest/arrangement of affiliation with any
    organizations that could be perceived as conflict
    of interest in the context of the subject of
    their presentation.

Learning Objectives
  • Participants will be able to
  • Describe three changes to autism diagnosis
  • Name 2 screening instruments designed for
    children over the age of 3.
  • Describe 2 ways to respond to parent concerns
    regarding autism spectrum disorder
  • Describe 3 ways to support families when a child
    receives a formal diagnosis of autism spectrum

Autism Spectrum Disorder - DSM V
  • New name for autistic disorder, which includes
  • Autistic disorder (classic autism)
  • Aspergers disorder
  • Pervasive developmental disorder- not otherwise
    specified (PDDNOS)
  • Childhood disintegrative disorder
  • Diagnostic and Statistical Manual of Mental
    Disorders, 5th ed.
  • Wash. DC. APA, 2013

Autism Spectrum Disorder (DSM-V)
  • Social and communication deficits, must have 3
  • Limited social/emotional reciprocity
  • Nonverbal communicative behavior
  • Deficits in developing and maintaining
  • Fixed interests repetitive behavior. Must have
    at least 2
  • Repetitive speech, motor movements, and/or use of
  • Excessive adherence to routines
  • Highly restricted or fixed interests
  • Atypical sensory responses
  • Symptoms present in early childhood (but may not
    be fully manifest until social demands exceed
    limited capacities)
  • Symptoms together limit and impair everyday

Autism Spectrum Disorder (DSM-V)
  • Three new Severity Levels for ASD
  • Requiring very substantial support
  • Severe impairments in social-communication
  • Preoccupations, rituals and/or repetitive
    behaviors (RBs) interfere with all aspects of
    functioning. Marked distress when routines are
  • Requiring substantial support
  • Marked deficits in functioning are apparent even
    with support
  • RBs are frequent enough to be obvious to the
    casual observer and interfere with functioning in
    many contexts. Distress is apparent when routines
    are interrupted
  • Requiring support
  • Deficits are noticeable when supports are not in
  • RBs cause significant interference in
    functioning. Resists redirection

  • Will be implemented October 1, 2014
  • Nine different disorders under autism
  • F84PDD
  • F84.0Childhood Autism (Kanner autism)
  • F84.1Atypical autism
  • F84.2Rett Syndrome
  • F84.3Other Childhood Disintegrative Disorder
  • F84.4Overactive Disorder associated with Mental
    Retardation and Stereotyped Movements
  • F84.5Asperger syndrome
  • F84.8Other Pervasive Developmental Disorders (no
    description given)
  • F84.9Pervasive Developmental Disorder,
    Unspecified (no description given)

What about the older child (gt4)?
  • Many children are missed by early screening
  • Designed to catch delays, more able children may
    not demonstrate delays at early ages
  • Age out M-CHAT ends at 30 months
  • Subtle symptoms
  • May not be evident in a short office visit
  • Child may have strong talents / strengths
  • Child may not appear atypical until he/she is
    seen in the context of a larger group of peers

Parent Concerns Warrant Attention
  • Parents continue to frequently report a gap
    between concerns about their childs development
    and a diagnosis of an autism spectrum disorder.
  • (Carbone, Behl, Azor, Murphy, 2010 Ryan
    Salisbury, 2012)

Red Flags for older children
  • Difficulty having a back-and-forth conversation
  • Difficulty understanding / using nonverbal
    signals (gestures, facial expressions)
  • Difficulty developing and maintaining friendships
    with peers
  • Formal speech
  • Difficulty understanding humor
  • Limited imagination and/or pretend play

Parents may report
  • Bullying
  • Child has few friends
  • Child is smart but isolates himself/herself from
    social situations
  • Significant anxiety
  • Obsessive interests and/or behavior
  • Child is overly social and is rejected by peers
  • Child has no common sense
  • Child previously did well academically but is now

Screening older children (age 4)
  • Screen if there are parent concerns
  • Recommend screening to children who exhibit red
  • Family history of ASD (siblings, etc.), but
    passed early screening / evaluation
  • Concerns by school personnel regarding ASD or
    related disorder

Childhood Autism Spectrum Test (CAST) (Scott,
Baron-Cohen, Bolton, Brayne, 2002)
  • Recommended on the CDC website
  • Ages 4-11 39-item parent questionnaire
  • Easy to administer
  • Has been used as a general population screen in
    research studies
  • Determines need for further evaluation but does
    not diagnose
  • Free and available for use
  • Online version http//
  • Need to create an
    account in order to download

Childhood Autism Spectrum Test (CAST) Sample
  • 1. Does s/he join in playing games with other
  • 5. Is it important to him/her to fit in with the
    peer group? 
  • 6. Does s/he appear to notice unusual details
    that others miss
  • 7. Does s/he tend to take things literally?
  • 8. When s/he was 3 years old, did s/he spend a
    lot of time pretending
  • 9. Does s/he like to do things over and over
    again, in the same way all the time?
  • 11. Can s/he keep a two-way conversation going?
  • 14. Does s/he have an interest which takes up so
    much time that s/he does little else?
  • 20. Is his/her voice unusual (e.g., overly adult,
    flat, or very monotonous)?
  • 29. Is his/her social behaviour very one-sided
    and always on his/her own terms?

Name of Instrument Description Age Availability / Cost
Autism Spectrum Screening Questionnaire (ASSQ) (Ehlers, Gillberg, Wing, 1999) 27 items 10 minutes 6-17 years Available from Journal of Autism and Developmental Disabilities
Autism QuotientChild Version (Auyeung, Baron-Cohen, Wheelwright, Allison, 2007) Parent report questionnaire 50 items 4-11 years Available free from need to create an account in order to download
Autism QuotientAdolescent Version (Baron-Cohen, Hoekstra, Knickmeyer, Wheelwright, 2006) Parent report questionnaire 50 items 12-16 years Available free from
Social Communication Questionnaire (SCQ)   (Rutter, Bailey, Lord, 2003) lt 10 minutes Parent response scale 40 items Based on the ADI-R anyone over age 4 (mental age over age 2) Available from WPS 129.00 for autoscore version with 20 current and 20 lifetime forms included
  • 96110 for any developmental screening (e.g. ASQ,
    CAST, PEDS) done with a formal screening tool
  • Can be billed on the same day as a well child
    exam or with other visit
  • Modifiers 25 and 59 (distinct procedural
  • Bill follow-up office visits with EM codes

  • Parent concerns
  • Red flags

Parent completes CAST
Screens Negative
Clinical staff scores, review results
Screens Positive
No Concerns
PCP discusses results and concerns with parents
No concerns
  • PCP discusses results
  • Provides anticipatory guidance
  • No immediate action needed

Further concerns
  • PCP discusses results / concerns with parents
  • Refer to Child Development Infoline
  • Directly refer for further evaluation
  • Provide anticipatory guidance
  • Monitor development
  • Rescreen at next well child visit
  • Refer to Child Development Infoline

Why refer?
  • Short office visits insufficient time to
    diagnose some children
  • Diagnosis can be complex for some children, but
    is possible with sufficient assessment (i.e.
    additional standardized assessment)
  • Symptoms of more able children with ASD are
    subtle in young children, but can become more
    apparent over time.
  • Research greater gains with earlier intervention
  • There is significant symptom overlap with many
    other disorders, and/or comorbidity

When there are Concerns Open the Conversation
  • I agree with your concerns about
  • Your answers to the questionnaire told me
  • We need to speak further
  • Id like someone to take a closer look at
  • This is a working diagnosis

Referrals for Comprehensive ASD Evaluation
  • For further consultation
  • Connecticut Childrens Medical Center
  • 860.837.5916 (number for providers)
  • 860.837.5915 (number for families)
  • UCONN Dept of Psychology (Storrs)
  • 860.486.2538
  • Yale Child Study Center
  • 203.785.3420

If a child receives a diagnosis of autism
spectrum disorder
  • What are the next steps?

Medical Search Strategy
  • The American College of Medical Genetics and
    Genomics (ACMG) (2010), recommends microarray CMA
    as a first-line test in the initial postnatal
    evaluation of individuals with the following
  • Multiple anomalies not specific to a
    well-delineated genetic syndrome
  • Apparently nonsyndromic developmental delay/
    intellectual disability
  • Autism spectrum disorders (after diagnosis is
  • CMA has higher sensitivity than standard G-banded
    karyotype for submicroscopic deletions and
    duplications and offers a diagnostic yield of
  • Array-based Technology and Recommendations for
    Utilization in Medical Genetics Practice for
    Detection of Chromosomal Abnormalities. Genet Med

Educating Families about Microarray
  • Test method Blood draw
  • Can this be combined with other needed tests?
  • Explain what the test is looking for and possible
    results parents might expect
  • Be prepared to explain any abnormal results to
  • Support families if they refuse or want to
    postpone test

Guidelines for Ordering Microarray
  • Obtain pre-authorization if the family has
    private insurance
  • Encourage families to check with their insurance
  • Check if test is only covered at specific labs
  • Husky coverage guidelines
  • http//

Referrals for Additional Evaluation may be
Recommended by the Diagnostician
  • Psychological
  • OT (sensory processing)
  • Speech therapy
  • Feeding Team
  • AAC Clinic
  • Behavioral health / Psychiatric
  • Behavioral issues Comorbid d/o differential
  • Medication
  • Neuropsychological
  • Evaluations may be medically-based or
  • PCP can facilitate connections for families

The First Step Establishing Services
  • The parent needs to call the school districts
    special education department or office of special
  • The family will need the diagnostic reportthey
    may need to get this from the PCP
  • Parents can expect the school to set up an
    evaluation or diagnostic placement for the child
  • The school may create an Individualized Education
    Plan (IEP) using the educational classification
    of autism or a 504 plan that specifies
    accommodations for the child

Services Schools May Provide
  • Self-contained classroom
  • Child may attend a regular classroom with special
    education support and/or a one-on-one
  • Resource room support
  • Therapeutic services (speech, OT, PT, etc.)
  • Social skills services
  • Behavioral supports / behavior plan
  • Counseling services with social worker or school
  • Accommodations for homework / assignments
  • Vocational services / assistance
  • Services are provided based upon educational

Overview of Therapeutic Approaches
  • Applied Behavioral Analysis (ABA)-based
  • Discrete Trial Training (DTT) (adult-directed)
  • Pivotal Response Treatment (PRT) (child-directed)
  • Picture Exchange Communication System (PECS)
  • Relationship-based
  • Floortime / Difference Relationship Model (DIR)
  • Relationship Development Intervention (RDI)
  • Social Communication / Emotion Regulation /
    Transactional Supports (SCERTS)
  • Incorporates components of PRT, TEACCH,
    Floortime, and RDI
  • TEACCH / Structured teaching

Families May Request
  • A letter to establish Medicaid eligibility or
    other disability services
  • A letter to support the establishment of or
    increase in school-based services
  • Referral / Prescription for outpatient evaluation
    and services
  • Therapy (OT, PT, speech)
  • Behavioral health (outpatient and/or in-home
  • Additional evaluations
  • Recommendations for / Referral to community-based
  • Assessment of the childs need for medication
  • Insight regarding
  • Specialized diets
  • Nutritional supplements

Ongoing Role for PCP
  • Include feedback from others (teachers, families)
  • Maintain medical record
  • Use a care team, including others who provide
    services to the child
  • Continue monitoring health and development
  • Note changes in school performance, peer
    relationships, and behavior and share notes with
    other providers
  • Make specialist referrals as needed
  • Coordinate with specialists
  • Connect family to family support options

What is Care Coordination?
  • A patient- and family-centered,
    assessment-driven, team-based activity designed
    to meet the needs of children and Youth while
    enhancing the care giving capabilities of
  • Care coordination addresses interrelated medical,
    social, developmental, behavioral, educational,
    and financial needs to achieve optimal health and
    wellness outcomes.

What is a Medical Home?
  • A community-based primary care setting which
    provides and coordinates high-quality, planned,
    family-centered health promotion, acute illness
    care, and chronic condition management.
  • This setting provides an excellent starting point
    for connecting children and families to the
    larger arena of health and community services

Family Support Options
  • CT Child Development Infoline 211 or 800.505.7000
  • Local Special Education Department (children gt 3)
  • CT Medical Home Initiative (5 statewide regions) search Autism to find region.
  • CT Family Support Network (CTFSN)
  • Department of Developmental Services (DDS) /
    Division of Autism Services
  • Autism Services Resources Connecticut (ASRC) 1.888.453.4975
  • Autism Speaks

(No Transcript)
Resources at CTAAP
  • Connecticut Guidelines for a Clinical Diagnosis
    of Autism Spectrum Disorder
  • Connecticut Collaborative to Improve Services
    for Children and Youth with Autism Spectrum
  • Referral letter

Web Resources
  • http//
  • AAP coding fact sheet http//
  • http//