Al-Jawahiri, R., Stokes, L., Smith, H. et al. (2 more authors) (2023) Short report: Behavioural characterisation of SOX11 syndrome. Research in Developmental Disabilities, 143. 104623. ISSN 0891-4222
Abstract
Background
SOX11 syndrome is a rare condition caused by deletions or de novo point mutations of the SOX11 gene. SOX11 is a transcription factor gene that plays an important role in brain development.
Aims
The aim of this study was to quantitatively evaluate the behavioural profiles of individuals with SOX11 syndrome.
Methods and procedures
The Vineland Adaptive Behaviour Scales 3 (VABS-3) and the Social Responsiveness Scale 2 (SRS-2) were completed by parents of 21 children and young adults with SOX11 syndrome.
Outcomes and results Most were found to have borderline (33 %) or mild (39 %) impairment in adaptive behaviour, with more difficulties in communication and daily living than socialisation in the cohort overall. Most (90 %) were found to exhibit clinically relevant levels of autistic traits, with 62 % scoring in the “severe” range, though social motivation was observed to be a relative strength in the cohort overall.
Conclusions and implications
This study presents the first standardised evaluation of adaptive behaviour and autistic traits of individuals with SOX11 syndrome. This will improve clinicians, educators and parents’ understanding of SOX11 syndrome.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | © 2023 The Authors. Published by Elsevier Ltd. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). |
Keywords: | SOX11 syndrome; Genetic conditions; Genetic syndromes; Intellectual disability; 2p25.2 deletions; Behavioural phenotypes |
Dates: |
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Institution: | The University of Sheffield |
Academic Units: | The University of Sheffield > Faculty of Science (Sheffield) > Department of Psychology (Sheffield) |
Funding Information: | Funder Grant number BAILY THOMAS FOUNDATION TRUST/VC/AC/SG/5399-8436 |
Depositing User: | Symplectic Sheffield |
Date Deposited: | 27 Oct 2023 10:06 |
Last Modified: | 13 Nov 2023 13:24 |
Status: | Published |
Publisher: | Elsevier |
Refereed: | Yes |
Identification Number: | 10.1016/j.ridd.2023.104623 |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:204632 |