Journal article
Sex bias in autism spectrum disorder in neurofibromatosis type 1
- Abstract:
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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.
- Publication status:
- Published
- Peer review status:
- Peer reviewed
Actions
Access Document
- Files:
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(Preview, Version of record, pdf, 517.8KB, Terms of use)
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- Publisher copy:
- 10.1186/s11689-016-9159-4
Authors
- Publisher:
- BioMed Central
- Journal:
- Journal of Neurodevelopmental Disorders More from this journal
- Volume:
- 8
- Issue:
- 1
- Pages:
- 26
- Publication date:
- 2016-07-26
- Acceptance date:
- 2016-07-05
- DOI:
- EISSN:
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1866-1955
- ISSN:
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1866-1947
- Pmid:
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27516813
- Language:
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English
- Keywords:
- Pubs id:
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pubs:640481
- UUID:
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uuid:28974f48-8631-424f-a0b1-12b7ac141678
- Local pid:
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pubs:640481
- Source identifiers:
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640481
- Deposit date:
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2018-11-20
Terms of use
- Copyright holder:
- Garg et al
- Copyright date:
- 2016
- Notes:
- © 2016 The Author(s). Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
- Licence:
- CC Attribution (CC BY)
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