Understanding autism spectrum disorder and social functioning in children with neurofibromatosis type 1: protocol for a cross-sectional multimodal study

Kristina M Haebich; Natalie A Pride; Karin S Walsh; Anita Chisholm; Melissa Rouel; Alice Maier; Vicki Anderson; Belinda Barton; Tim Silk; Mayuresh Korgaonkar; Marc Seal; Francesca Lami; Jennifer Lorenzo; Katrina Williams; Gabriel Dabscheck; Caroline D Rae; Michael Kean; Kathryn N North; Jonathan M Payne

doi:10.1136/bmjopen-2019-030601

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Understanding autism spectrum disorder and social functioning in children with neurofibromatosis type 1: protocol for a cross-sectional multimodal study

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Understanding autism spectrum disorder and social functioning in children with neurofibromatosis type 1: protocol for a cross-sectional multimodal study

Kristina M Haebich, Natalie A Pride, Karin S Walsh, Anita Chisholm, Melissa Rouel, Alice Maier, Vicki Anderson, Belinda Barton, Tim Silk, Mayuresh Korgaonkar, …

BMJ open, Vol.9(9), pp.e030601-e030601

26/09/2019

DOI: https://doi.org/10.1136/bmjopen-2019-030601

PMCID: PMC6773330

PMID: 31558455

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Abstract

Introduction Children with the single-gene disorder neurofibromatosis type 1 (NF1) appear to be at an increased risk for autism spectrum disorder (ASD) and exhibit a unique social-cognitive phenotype compared with children with idiopathic ASD. A complete framework is required to better understand autism in NF1, from neurobiological levels through to behavioural and functional outcomes. The primary aims of this study are to establish the frequency of ASD in children with NF1, examine the social cognitive phenotype, investigate the neuropsychological processes contributing to ASD symptoms and poor social functioning in children with NF1, and to investigate novel structural and functional neurobiological markers of ASD and social dysfunction in NF1. The secondary aim of this study is to compare the neuropsychological and neurobiological features of ASD in children with NF1 to a matched group of patients with idiopathic ASD. Methods and analysis This is an international, multisite, prospective, cross-sectional cohort study of children with NF1, idiopathic ASD and typically developing (TD) controls. Participants will be 200 children with NF1 (3–15 years of age), 70 TD participants (3–15 years) and 35 children with idiopathic ASD (7–15 years). Idiopathic ASD and NF1 cases will be matched on age, sex and intelligence. All participants will complete cognitive testing and parents will rate their child’s behaviour on standardised questionnaires. Neuroimaging will be completed by a subset of participants aged 7 years and older. Children with NF1 that screen at risk for ASD on the parent-rated Social Responsiveness Scale 2nd Edition will be invited back to complete the Autism Diagnostic Observation Scale 2nd Edition and Autism Diagnostic Interview-Revised to determine whether they fulfil ASD diagnostic criteria. Ethics and dissemination This study has hospital ethics approval and the results will be disseminated through peer-reviewed publications and international conferences.

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Title: Understanding autism spectrum disorder and social functioning in children with neurofibromatosis type 1: protocol for a cross-sectional multimodal study
Creators: Kristina M Haebich - Michigan Institute for Neurological Disorders
Natalie A Pride - University of Sydney
Karin S Walsh - George Washington University
Anita Chisholm - Michigan Institute for Neurological Disorders
Melissa Rouel - Children's Hospital at Westmead
Alice Maier - Murdoch Children's Research Institute
Vicki Anderson - Michigan Institute for Neurological Disorders
Belinda Barton - Children's Hospital at Westmead
Tim Silk - School of Psychology, Deakin University, Burwood, VIC, Australia
Mayuresh Korgaonkar - Brain Dynamics Centre, Westmead Institute for Medical Research, University of Sydney, Westmead, NSW, Australia.
Marc Seal - Murdoch Children's Research Institute
Francesca Lami - Murdoch Children's Research Institute
Jennifer Lorenzo - Children's Hospital at Westmead
Katrina Williams - Monash University
Gabriel Dabscheck - Royal Children's Hospital
Caroline D Rae - Neuroscience Research Australia
Michael Kean - Royal Children's Hospital
Kathryn N North - University of Melbourne
Jonathan M Payne - University of Melbourne
Publication Details: BMJ open, Vol.9(9), pp.e030601-e030601
Publisher: BMJ Group
Identifiers: 991013092668902368
Academic Unit: Faculty of Health
Language: English
Resource Type: Journal article

Understanding autism spectrum disorder and social functioning in children with neurofibromatosis type 1: protocol for a cross-sectional multimodal study

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