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

Day, Rebecca; Simmons, Luke; Shade, Elizabeth; Jennison, Jo; Allely, Clare S; Mukherjee, Raja A S

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. Research has suggested that there is a type of Autism that is unique to women. This was not what we saw in clinic. We decided to look back at 150 men and women diagnosed with Autism what type of autism they had. We completed a review of each of the 150 individuals' reports after developing a questionnaire. This was based on what was already known and with some extra clinical questions. The reviews were undertaken by two people and verified by a third person to ensure accuracy. When looking at results it became clear that women did appear to present in a different way but that it was not unique to women. Many men also had this same presentation, just that women presented more commonly in this manner. What this paper adds Our results also show that camouflaging behaviours were in no way exclusive to females. While "acting", "wearing a mask" and "modelling themselves on people they know" are often

Citation

Day, R., Simmons, L., Shade, E., Jennison, J., Allely, C. S., & Mukherjee, R. A. S. (in press). 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, 10(2), 53-68. https://doi.org/10.1108/aia-11-2022-0053

• Journal Article Type: Article
• Acceptance Date: Jan 4, 2024
• Online Publication Date: Feb 27, 2024
• Deposit Date: Mar 8, 2024
• Journal: Advances in Autism
• Print ISSN: 2056-3868
• Electronic ISSN: 2056-3868
• Publisher: Emerald
• Peer Reviewed: Peer Reviewed
• Volume: 10
• Issue: 2
• Pages: 53-68
• DOI: https://doi.org/10.1108/aia-11-2022-0053
• Keywords: Psychiatry and Mental health; Cognitive Neuroscience; Neurology (clinical); Neurology; Developmental and Educational Psychology