ASD in females: are we overstating the gender difference in diagnosis?

Abstract

Autism spectrum disorder (ASD) is predominantly diagnosed in males. In explaining the differential rate of occurrence in males and females, biogenetic models have been proposed and studied, often to the exclusion of potential social or cultural factors that may influence different rates of diagnosis across the genders. In this theoretical paper, we consider sociocultural influences that may contribute to the differential expression of ASD in females and partially explain potential underidentification of ASD in females. Based on our synthesis of the extant literature, we propose that ASD may be underidentified in affected females without co-occurring intellectual impairment, owing to a pattern of subtle yet potentially meaningful gender differences in symptom manifestation (e.g., less unusual stereotyped and repetitive behaviors in females, increased prevalence of internalizing problems in females) and gender inequities in research on the ASD phenotype that potentially contributes to biases in assessment tools and diagnostic practices. We offer recommendations for future research directions on gender differences in ASD, and we suggest implications to inform best practice and policy for the assessment of females with ASD.