Abstract

Diagnosing autism spectrum disorder (ASD) requires extensive clinical expertise and training as well as a focus on differential diagnoses. The diagnostic process is particularly complex given symptom overlap with other mental disorders and high rates of co-occurring physical and mental health concerns. The aim of this study was to conduct a data-driven selection of the most relevant diagnostic information collected from a behavior observation and an anamnestic interview in two clinical samples of children/younger adolescents and adolescents/adults with suspected ASD. Via random forests, the present study discovered patterns of symptoms in the diagnostic data of 2310 participants (46% ASD, 54% non-ASD, age range 4–72 years) using data from the combined Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview—Revised (ADI-R) and ADOS data alone. Classifiers built on reduced subsets of diagnostic features yield satisfactory sensitivity and specificity values. For adolescents/adults specificity values were lower compared to those for children/younger adolescents. The models including ADOS and ADI-R data were mainly built on ADOS items and in the adolescent/adult sample the classifier including only ADOS items performed even better than the classifier including information from both instruments. Results suggest that reduced subsets of ADOS and ADI-R items may suffice to effectively differentiate ASD from other mental disorders. The imbalance of ADOS and ADI-R items included in the models leads to the assumption that, particularly in adolescents and adults, the ADI-R may play a lesser role than current behavior observations.

Highlights

  • Autism spectrum disorder (ASD) is a neurodevelopmental disorder whose symptoms emerge in early development, are present in multiple contexts and persist over the lifespan

  • All subjects were classified as autism spectrum disorder (ASD) or non-ASD cases based on best-estimate clinical (BEC) diagnosis according to ICD-10, comprising a comprehensive clinical investigation with physical examination, medical history-taking, assessment of intellectual ability, Autism Diagnostic Observation Schedule (ADOS), Autism Diagnostic Interview—Revised (ADI-R) and differential diagnostic examination

  • In the present study we find a few overlapping features between the age groups: ADOS: “Facial Expressions Directed to Examiner” (EXPE), “Speech abnormalities associated with autism” (SPAB), “Quality of social overtures” (QSOV); ADI-R: “Showing and Directing Attention.”

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Summary

Introduction

Autism spectrum disorder (ASD) is a neurodevelopmental disorder whose symptoms emerge in early development, are present in multiple contexts and persist over the lifespan. The current diagnostic gold standard includes two essential components: a direct observation of behavior by an experienced clinician (Autism Diagnostic Observation Schedule, ADOS) [4, 5] and an anamnestic interview with caregivers (Autism Diagnostic Interview, Revised, ADI-R) [6]. Both instruments are assumed to contribute additively to the clinical judgment and to lead to a consistent and rigorous application of diagnostic criteria [7, 8]. Due to the lengthy nature and required in-depth training for both instruments, the usage of this gold standard is confined to specialty clinics that usually struggle with limited personnel capacities and long waiting lists for diagnostic appointments

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