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Journal of Neurodevelopmental Disorders

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Open Access 01-12-2016 | Research

Sex bias in autism spectrum disorder in neurofibromatosis type 1

Authors: Shruti Garg, Hein Heuvelman, Susan Huson, Hannah Tobin, Jonathan Green, Northern UK NF1 Research Network

Published in: Journal of Neurodevelopmental Disorders | Issue 1/2016

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.

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Title: Sex bias in autism spectrum disorder in neurofibromatosis type 1
Authors: Shruti Garg
Hein Heuvelman
Susan Huson
Hannah Tobin
Jonathan Green
Northern UK NF1 Research Network
Publication date: 01-12-2016
Publisher: BioMed Central
Published in: Journal of Neurodevelopmental Disorders / Issue 1/2016
Print ISSN: 1866-1947
Electronic ISSN: 1866-1955
DOI: https://doi.org/10.1186/s11689-016-9159-4

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Sex bias in autism spectrum disorder in neurofibromatosis type 1

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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