Autism prevalence and the limits of diagnostic expansion: a perspective on diagnostic validity, adult assessment, and phenotypic stratification

Abstract

The reported prevalence of autism spectrum disorder (ASD) has risen dramatically over the past two decades. Although increased awareness, broader diagnostic criteria, and improved access to assessment have corrected historical under-identification, this diagnostic expansion also raises a significant methodological concern: the risk of diagnostic dilution. Increasingly, surveillance systems and clinical cohorts may include individuals whose phenotypic profiles, developmental histories, and functional impairments do not fully align with a developmentally anchored neurodevelopmental presentation of ASD. This challenge is particularly acute in adolescent and adult assessments, where developmental history may be incomplete and standardized instruments or self-report measures may show limited specificity when applied to clinically complex psychiatric populations. Conflating developmentally anchored ASD with partially overlapping clinical phenotypes may reduce the signal-to-noise ratio in genetic, biomarker, neuroimaging, and therapeutic research, contributing to findings that are difficult to replicate or interpret. To preserve diagnostic validity, this Perspective argues that best-estimate clinical diagnosis must be grounded in rigorous developmental anchoring, collateral information, and judicious clinical judgment. It further proposes a set of core stratification domains for systematic phenotypic stratification, including age at first concern and diagnosis, biological sex and sex-related ascertainment factors, language and cognitive trajectories, adaptive functioning, intellectual disability, psychiatric comorbidities, ascertainment source, diagnostic instruments used, collateral developmental documentation, and support needs and functional impairment across contexts and over time. Stratification should not be understood as a restriction on clinical access, but as a scientific requirement for meaningful prevalence estimates and biologically informative autism research.