Impaired communication ability in SOX11 syndrome

IF 2.1 2区 医学 Q1 EDUCATION, SPECIAL Journal of Intellectual Disability Research Pub Date : 2023-11-02 DOI:10.1111/jir.13105
H. Smith, R. Al-Jawahiri, L. Stokes, M. Freeth, S. Fricke, D. Matthews, A. McNeill
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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.

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SOX11综合征的沟通能力受损。
背景:言语和语言技能对社交和学习很重要。本研究使用标准化的父母/看护人问卷,即儿童沟通检查表(CCC-2),对患有SOX11综合征的言语个体的沟通能力进行了表征。为了将研究结果纳入背景,将反应与正常值和努南综合征的数据进行了比较,努南综合症是一种相对知名的与沟通障碍相关的遗传诊断。结果:对于所有个体来说,CCC-2综合评分显示出显著的沟通困难。语言结构(言语、句法、语义和连贯性)、语用语言(不恰当的启动、刻板的语言使用上下文和非语言交流)和自闭症特征(社会关系和兴趣)得分低于典型的发展规范。次尺度比较显示,与其他语用领域(刻板语言和不当启动)相比,语境使用存在相对差异。个人得分表现出很大的差异,特别是在语言结构方面。差异比努南综合征更明显,特别是在言语、句法、非言语交流和社会关系领域。结论:SOX11综合征与沟通障碍有关。作为SOX11综合征患者管理的一部分,评估沟通能力并了解个人的优势和困难以提供有针对性的支持是很重要的。
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来源期刊
CiteScore
5.60
自引率
5.60%
发文量
81
期刊介绍: The Journal of Intellectual Disability Research is devoted exclusively to the scientific study of intellectual disability and publishes papers reporting original observations in this field. The subject matter is broad and includes, but is not restricted to, findings from biological, educational, genetic, medical, psychiatric, psychological and sociological studies, and ethical, philosophical, and legal contributions that increase knowledge on the treatment and prevention of intellectual disability and of associated impairments and disabilities, and/or inform public policy and practice. Expert reviews on themes in which recent research has produced notable advances will be included. Such reviews will normally be by invitation.
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