Journal article

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

BMJ Open | BMJ PUBLISHING GROUP | Published : 2019

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 neur..

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Grants

Awarded by US Department of Defense Investigator Initiated Research Award as part of the Neurofibromatosis Research Program


Awarded by US Department of Defense Exploration-Hypothesis Development Award as part of the Neurofibromatosis Research Program


Funding Acknowledgements

This work was supported by a US Department of Defense Investigator Initiated Research Award and an Exploration-Hypothesis Development Award as part of the Neurofibromatosis Research Program, respective grant numbers W81XWH-15-1-0619 and W81XWH-16-1-0408; a Murdoch Children's Research Institute Clinician Scientist Fellowship awarded to JMP; a NHMRC Postgraduate Scholarship awarded to AC; and the Children's Tumour Foundation in Australia.