Journal article

Delineating the autistic phenotype in children with neurofibromatosis type 1

AK Chisholm, KM Haebich, NA Pride, KS Walsh, F Lami, A Ure, T Maloof, A Brignell, M Rouel, Y Granader, A Maier, B Barton, H Darke, G Dabscheck, VA Anderson, K Williams, KN North, JM Payne

Molecular Autism | Published : 2022

Abstract

Background: Existing research has demonstrated elevated autistic behaviours in children with neurofibromatosis type 1 (NF1), but the autistic phenotype and its relationship to other neurodevelopmental manifestations of NF1 remains unclear. To address this gap, we performed detailed characterisation of autistic behaviours in children with NF1 and investigated their association with other common NF1 child characteristics. Methods: Participants were drawn from a larger cross-sectional study examining autism in children with NF1. The population analysed in this study scored above threshold on the Social Responsiveness Scale-Second Edition (T-score ≥ 60; 51% larger cohort) and completed the Autis..

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