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.
