Gender-specific presentation of autism spectrum disorder in women: implications for diagnostic sensitivity and specificity

Abstract

Women with autism spectrum disorder (ASD) are frequently under-identified due to a subtler phenotype and social “camouflaging.” This review outlines female-specific clinical features and examines how they influence the sensitivity and specificity of commonly used diagnostic tools. Narrative review of studies on sex/gender differences in ASD presentation and on the performance of standardized instruments (observational and informant-report) in females across developmental stages, with attention to internalizing comorbidities and contextual demands (school, peers, work). Compared with males, autistic women more often show relatively intact early language, richer pretend play, and circumscribed interests that align with socially normative themes, which can diminish observable restricted/repetitive behaviors. Social difficulties may appear as scripted interactions, mimicry, heightened social fatigue, and delayed recovery after social effort. Internalizing conditions—social anxiety, depression, and eating disorders—are more prevalent and can mask core autistic features. Consequently, observational tools may display reduced sensitivity in females, while criteria derived largely from male samples risk false negatives and lower case detection. Diagnostic accuracy improves when assessments: (1) incorporate developmental history and informant reports targeting early socialcommunication differences; (2) probe camouflaging behaviors and effort-related costs; (3) adjust thresholds or algorithms for female presentations; and (4) systematically screen for internalizing comorbidity to disentangle symptom overlap. ASD in women often presents with a distinct, partially masked phenotype. Genderinformed, multimodal assessment that explicitly evaluates camouflaging and context improves both sensitivity and specificity of diagnosis.