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. 2016 Jul 26:8:26.
doi: 10.1186/s11689-016-9159-4. eCollection 2016.

Sex bias in autism spectrum disorder in neurofibromatosis type 1

Shruti Garg  1 , Hein Heuvelman  2 , Susan Huson  3 , Hannah Tobin  4 , Jonathan Green  4 ; Northern UK NF1 Research Network
Collaborators, Affiliations

Sex bias in autism spectrum disorder in neurofibromatosis type 1

Shruti Garg et al. J Neurodev Disord. .

Abstract

Background: Despite 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.

Methods: We 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.

Results: There 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.

Conclusions: There 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.

Keywords: Autism spectrum disorder; Neurofibromatosis type 1; Sex bias; Syndromic autism.

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Figures

Fig. 1
Fig. 1
SRS total T scores in males and females in the whole sample n = 194
See this image and copyright information in PMC

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