Abstract
BackgroundDespite extensive literature, little is known about the mechanisms underlying sex bias in autism spectrum disorder (ASD). This study investigates the sex differences in ASD associated with neurofibromatosis type 1, a single-gene model of syndromic autism.MethodsWe analysed data from n = 194 children aged 4–16 years with neurofibromatosis type 1. Sex differences were evaluated across the Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule (ADOS), verbal IQ, Social Responsiveness Scale (SRS) and Conners questionnaires.ResultsThere was 2.68:1 male:female ratio in children meeting ASD criteria on the deep phenotyping measures. On symptom profile, males with neurofibromatosis type 1 (NF1) + ASD were more impaired on reciprocal social interaction and communication domains of the ADI-R but we found no differences on the restricted, repetitive behaviours (RRBs) domain of the ADI-R and no differences on the social on the ADOS. NF1 ASD males and females were comparable on verbal IQ, and the inattention/hyperactivity domains of the Conners questionnaire.ConclusionsThere is a significant male bias in the prevalence of ASD in NF1. The phenotypic profile of NF1 + ASD cases includes greater social communication impairment in males. We discuss the implications of our findings and the rationale for using NF1 as a model for investigating sex bias in idiopathic ASD.
Highlights
Despite extensive literature, little is known about the mechanisms underlying sex bias in autism spectrum disorder (ASD)
Based on the findings of previous studies, we investigate whether females with neurofibromatosis type 1 (NF1) + ASD show greater symptom severity in the social communication and interaction domain and lower repetitive behaviour symptom levels and cognitive ability when compared to males with NF1 + ASD
A two-stage procedure of Social Responsiveness Scale (SRS) screening followed by gold-standard ASD assessment using Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS) was used
Summary
Little is known about the mechanisms underlying sex bias in autism spectrum disorder (ASD). Recent studies suggest that a number of methodological issues may influence this ratio, including differences in ascertainment procedures, interaction with intelligence quotient (IQ) and underrepresentation of females in research studies [3] Despite such methodological limitations, a relative male preponderance remains a stable observation across all research studies. The most prominent theory is the ‘female protective effect’ (FPE), which suggests that assumed female-specific biological or development factors confer a general protective effect so as to make the effective ASD threshold higher for females [5]. This theory predicts that females with ASD will show higher levels of associated abnormalities compared to males [6].
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