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Published on: April 22, 2015
Diagnostic Accuracy of Primary Care Clinicians Across a Statewide System of Autism Evaluation
Rebecca McNally Keehn1, Nancy Swigonski1, Brett Enneking1
1Departments of Pediatrics.
Insights
Primary care providers trained by the Early Autism Evaluation (EAE) Hub can accurately diagnose autism spectrum disorder (ASD) in young children. Disagreements often involved differentiating ASD from global developmental delay in false negative cases.
Area of Science:
- Developmental Pediatrics
- Child Psychology
- Public Health
Background:
- Early identification of autism spectrum disorder (ASD) is crucial for timely intervention and improved outcomes.
- Community primary care settings are vital for reaching diverse populations of young children at risk for ASD.
- The Early Autism Evaluation (EAE) Hub system aims to enhance diagnostic capabilities within primary care.
Purpose of the Study:
- To assess the diagnostic accuracy of the EAE Hub system in identifying autism spectrum disorder (ASD) in children aged 14-48 months.
- To evaluate the performance of community primary care providers trained by the EAE Hub in diagnosing ASD.
- To compare diagnoses made by EAE Hub clinicians with expert evaluations.
Main Methods:
- A prospective diagnostic study involving 126 children aged 14-48 months referred by EAE Hub clinicians.
- Blinded, follow-up expert evaluations including assessments of developmental level, adaptive behavior, and ASD symptom severity.
- Primary outcome: agreement on categorical ASD diagnosis between EAE Hub clinician (index) and ASD expert (reference).
Main Results:
- 82% of children had consistent ASD outcomes between EAE Hub and expert evaluations.
- Sensitivity was 81.5%, specificity 82.4%, positive predictive value 92.6%, and negative predictive value 62.2%.
- True positive cases showed significantly greater developmental impairment compared to false negative cases.
Conclusions:
- Community-based primary care clinicians receiving specialty training can achieve accurate ASD diagnoses.
- Diagnostic disagreements were primarily false negatives, often due to difficulty distinguishing ASD from global developmental delay.
- Findings support the development of population health strategies to reduce ASD diagnostic delays.
Objectives:
To evaluate the diagnostic accuracy of the Early Autism Evaluation (EAE) Hub system, a statewide network that provides specialized training and collaborative support to community primary care providers in the diagnosis of young children at risk for autism spectrum disorder (ASD).
Methods:
EAE Hub clinicians referred children, aged 14 to 48 months, to this prospective diagnostic study for blinded follow-up expert evaluation including assessment of developmental level, adaptive behavior, and ASD symptom severity. The primary outcome was agreement on categorical ASD diagnosis between EAE Hub clinician (index diagnosis) and ASD expert (reference standard).
Results:
Among 126 children (mean age: 2.6 years; 77% male; 14% Latinx; 66% non-Latinx white), 82% (n = 103) had consistent ASD outcomes between the index and reference evaluation. Sensitivity was 81.5%, specificity was 82.4%, positive predictive value was 92.6%, and negative predictive value was 62.2%. There was no difference in accuracy by EAE Hub clinician or site. Across measures of development, there were significant differences between true positive and false negative (FN) cases (all Ps < .001; Cohen's d = 1.1-1.4), with true positive cases evidencing greater impairment.
Conclusions:
Community-based primary care clinicians who receive specialty training can make accurate ASD diagnoses in most cases. Diagnostic disagreements were predominately FN cases in which EAE Hub clinicians had difficulty differentiating ASD and global developmental delay. FN cases were associated with a differential diagnostic and phenotypic profile. This research has significant implications for the development of future population health solutions that address ASD diagnostic delays.
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