Smith, H., Al-Jawahiri, R., Stokes, L. et al. (4 more authors) (2024) Impaired communication ability in SOX11 syndrome. Journal of Intellectual Disability Research, 68 (3). pp. 285-292. ISSN 0964-2633
Abstract
Background
Speech and language skills are important for social interaction and learning. This study characterised the communication abilities of verbal individuals with SOX11 syndrome using a standardised parent/carer questionnaire, the Children's Communication Checklist (CCC-2).
Method
Thirteen parent/carers of verbal individuals (aged 5–19 years) diagnosed with SOX11 syndrome completed the CCC-2. In order to contextualise findings, responses were compared to norms and to data from Noonan syndrome, a relatively well-known genetic diagnosis associated with communication impairment.
Results
For all individuals, the CCC-2 composite score indicated significant communication difficulties. Language structure (speech, syntax, semantics and coherence), pragmatic language (inappropriate initiation, stereotyped language use of context and non-verbal communication) and autistic features (social relations and interests) scores were lower than typically developing norms. Subscale comparisons revealed relative difference in use of context compared to other pragmatic domains (stereotyped language and inappropriate initiation). Individual scores showed substantial variation, particularly in regard to language structure profile. Differences were more pronounced than for Noonan syndrome, specifically in domains of speech, syntax, non-verbal communication and social relations.
Conclusions
SOX11 syndrome is associated with communication impairment. It is important to assess communication abilities as part of the management of individuals with SOX11 syndrome and understand individual strengths and difficulties in order to provide targeted support.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | © 2023 The Authors. Journal of Intellectual Disability Research published by MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, (http://creativecommons.org/licenses/by-nc/4.0/) which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes. |
Keywords: | communication; language; SOX11; speech; SRY-related high-mobility-group box 11 |
Dates: |
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Institution: | The University of Sheffield |
Academic Units: | The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Health Sciences School (Sheffield) |
Funding Information: | Funder Grant number BAILY THOMAS FOUNDATION TRUST/VC/AC/SG/6080-9282 |
Depositing User: | Symplectic Sheffield |
Date Deposited: | 02 Nov 2023 16:11 |
Last Modified: | 01 Nov 2024 11:03 |
Status: | Published |
Publisher: | Wiley |
Refereed: | Yes |
Identification Number: | 10.1111/jir.13105 |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:204883 |
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Filename: J intellect Disabil Res - 2023 - Smith - Impaired communication ability in SOX11 syndrome.pdf
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