Exploring the presence of a sex-specific phenotype of autism spectrum disorder in a random cohort of males and females: a retrospective case note service audit

Abstract

Purpose

Recent research has proposed a specific female phenotype within autism spectrum disorder (ASD). It suggests females exhibit differences in social communication styles with higher levels of camouflaging and compensatory strategies, as well as variance in restrictive repetitive behaviours (RRBs); however, many existing studies have been based on either small, disproportionate or child and adolescent samples, leaving questions about the specific phenotype. This study aims to explore the sex difference and phenotype in a clinic sample of individuals diagnosed with autism.

Design/methodology/approach

A service evaluation of sex/ gender differences on 150 historical ASD assessment reports (75 males, 75 females) using a 103-item questionnaire developed from a quantitative review of existing literature was undertaken.

Findings

Females camouflaged more significantly than males in five different areas (thinking how to act next, preparing conversation in advance, making lists of prompts/social responses, wearing a mask/acting, less monotone voice); however, these were not maintained in post-analysis correction.

Originality/value

This study points the evidence towards a different phenotype of Autism that is more common in women than men rather than a unique female phenotype.

Citation

Day, R., Simmons, L., Shade, E., Jennison, J., Allely, C.S. and Mukherjee, R.A.S. (2024), "Exploring the presence of a sex-specific phenotype of autism spectrum disorder in a random cohort of males and females: a retrospective case note service audit", Advances in Autism, Vol. ahead-of-print No. ahead-of-print. https://doi.org/10.1108/AIA-11-2022-0053