To address the convergent failures in the classification, sociocultural understanding, and methodology of Autism Spectrum Disorder (ASD) diagnosis and to establish minimum evidentiary standards for adult ASD differential diagnosis in complex cases.
Approach:
Narrative Review: Integration of peer-reviewed publications (2015–2026) focusing on ASD diagnostic validity, phenotypic and genetic heterogeneity, sensory processing, female phenotype, and differential diagnosis with other psychiatric conditions.
Key Findings:
ASD aggregates at least two neurobiologically distinct phenotypes: Type I (prototypical, syndromic, high genetic load) and Type II (polygenically driven, milder, overlaps with general psychopathology).
The DSM-5 sensory criterion lacks diagnostic specificity despite being neurobiologically grounded.
Current assessment models are inadequate for Type II presentations and the female phenotype.
Interpretation:
The review emphasizes the need for restoring diagnostic specificity to ASD to ensure appropriate identification.
Limitations:
The review does not provide a comprehensive survey of all ASD literature.
It focuses on a specific epistemological problem rather than a broad overview of ASD.
Conclusion:
Restoring diagnostic specificity is essential for accurately identifying populations within ASD.
