Can we do more than refer?

Increasing community providers ability to diagnose classic Autism Spectrum Disorder

Judith Miller, PhD1,2, Maura Powell, MPH1, Brenna Maddox, PhD1 & Susan E Levy, MD, MPH1,2.
1The Children's Hospital of Philadelphia, Philadelphia, PA; 2Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA

Background
Over the past 20 years non-specialist providers are more
familiar with Autism Spectrum Disorder (ASD). However,
few tools exist to move beyond screening, and many
providers still refer to an ASD specialist for the final
diagnostic call. With the right support, non-specialist
providers could make a diagnosis of ASD in children whose
presentation is quite apparent, or classic, and specialists
would best be used for cases whose presentation is
complex.

Objectives
To develop a freely available diagnostic tool that:
Supports the assessment and diagnosis of
classic or autism by non-specialist providers
Spans the full range of age, verbal ability, and
functional skills
May be integrated with clinical decision support
tools and the electronic health record
Is designed with implementation in mind at the
outset, using stakeholder input from target users, ,
parents, and community agencies.

Why a New Tool is Needed

Limitations of current screening tools (M-CHAT, SCQ, SRS):
Focus is on sensitivity, not specificity
Items on restricted and repetitive behaviors are sparse
Gaps in coverage (particularly age 30-48 month)
Not all are freely available
Limitations of current gold standard measures (ADOS,
ADI-R, CARS):
Not practical for the non-specialist provider
No single tool incorporates both history and observation
Limited coverage of restricted and repetitive behaviors
Support for this project came from the Childrens Hospital of Philadelphia
Office of Clinical Quality Improvement.
Acknowledgements: Leadership Education in Neurodevelopmental Disorders
(LEND) Autism faculty and the CHOP Autism Integrated Care Program.
References available upon request.

Methods
Interdisciplinary input on both clinical and
implementation factors was gathered.
The team consisted of:
ASD specialists (diagnostic and/or intervention):
Developmental and Behavioral Pediatrics (n=2)
Psychology (n=4)
Psychiatry (n=1)
Neurology (n=1)
Speech and Language Pathology (n=1)
Occupational Therapy (n=1)
Non-specialists:
General pediatricians (n=3)
Neurology (n=1)
CHOP Autism Family Advisory Board (n=4)

Sample Items
Sample of 3-6 year old items
(those in bold are highly specific to ASD):
Nonverbal Communication

(Must show at least some impairment)

Check if
observed
during visit

Does the child

have impaired eye contact?
use gestures? (e.g., pointing, high-5s, waving, clapping, motioning come here)
express a range of emotions (e.g., surprise, embarrassment, disappointment) with
face, body, and tone of voice all together?
actively avoid eye contact, even when comfortable?

No/Rarely

Sometimes

Yes/Often

Observed

No/Rarely
No/Rarely

Sometimes
Sometimes

Yes/Often
Yes/Often

Observed
Observed

No/Rarely

Sometimes

Yes/Often

Observed

Routines

(May show some impairment)

Check if
observed
during visit

No/Rarely
No/Rarely
No/Rarely
No/Rarely

Sometimes
Sometimes
Sometimes
Sometimes

Yes/Often
Yes/Often
Yes/Often
Yes/Often

Observed
Observed
Observed
Observed

No/Rarely

Sometimes

Yes/Often

Observed

Does the child

have difficulty with transitions?
have compulsive behaviors? (e.g., has to lick food before taking a bite)
seem to need routines/structure more than other children?
show extreme resistance to change? (e.g., to new routines, driving routes, or
furniture arrangements)
say one or more things in a very specific way, or insist that others say things in a very
specific way?

Implementation suggestions indicated the tool should:

Fit into 30 minutes (as a follow-up appointment slot in
general pediatrics, or for inclusion in a 1-2 hour
appointment for neurology, psychiatry, or psychology).
Include concrete scripts for the provider to introduce the
tool, ask the questions, and provide the results.
Include next step directions for the family, with local
resource information for community services.
Provide an official report with diagnosis that would be
recognized by school and community providers.

Recommendation: Diagnosis of ASD.

All of the following have been met:

Full DSM-5 criteria are endorsed by parent; and

There is clear evidence of at least one bolded behavior; and

At least some behaviors have been clearly observed by the clinician:

Clinical suggestions indicated the tool should:

Be used after a concern has been raised (through
screening, parent concern, or provider concern.
Support either a confident diagnosis or a referral for
evaluation, but not to rule out an ASD.
Focus on specificity rather than sensitivity.

Recommendation: Refer for a diagnostic specialty evaluation.

Rationale for referral: One of the above criteria were not met. For example:

Partial criteria (2 or more symptom domains, but not full criteria) were endorsed by
parent and/or observed by clinician; or

Parent endorsed full criteria, but either there are no bolded behaviors, and/or very
little evidence of atypical behaviors was observed by the clinician.
Or,

Parent or clinician feel this information is not yet sufficient to make a diagnosis with
confidence.

Next Steps
Validation studies to determine frequency of false positive
diagnoses.
Feedback from community providers about the report and
whether it would meet the needs for service eligibility.

Sample from script:

Reviewing this information today, it does appear that your child meets criteria for Autism Spectrum
Disorder. Here is a list of the criteria and the behaviors your child is exhibiting. As you can see, all three of
the Social Communication criteria are met, and at least two of the Restricted or Repetitive Behaviors are
met. In addition, there is at least one behavior that is very highly indicative of ASD (bolded). And finally,
there were at least some behaviors apparent here in the office, further suggesting that we can be confident in
making the diagnosis today.

These results suggest that a diagnostic specialty evaluation would be helpful. Your child is showing some
behaviors suggestive of ASD, but not clearly enough that we can confident in a diagnosis based on this
relatively brief evaluation alone.
Additional recommendations regardless of the assessment outcome:
Regardless of the outcome from this evaluation, it is still important to address any additional
developmental concerns, whether they may be related to ASD or not. Help is available from the community
(EI or School district, depending on age) and through private providers (therapists and health care
providers).