Speech and language skills in a case of Watson syndrome.

IF 0.8 4区 医学 Q4 AUDIOLOGY & SPEECH-LANGUAGE PATHOLOGY
Tom Van Boxel-Woolf, Kathleen M McCarthy
{"title":"Speech and language skills in a case of Watson syndrome.","authors":"Tom Van Boxel-Woolf, Kathleen M McCarthy","doi":"10.1080/02699206.2025.2472051","DOIUrl":null,"url":null,"abstract":"<p><p>Watson syndrome is a rare genetic condition partly characterised by developmental delays and learning difficulties. A profile of speech and language skills associated with this developmental syndrome is yet to be described in the literature. In order to address this gap, this study presents the case of an 18-year-old man with Watson syndrome and reports both standardised and naturalistic assessments of speech, language, oro-motor skills, and semantic and phonemic fluency. Analyses included norm-referencing, discrepancy comparison, phonological process analysis, and acoustic analyses of voice and conversational fluency. The participant's semantic fluency approximated to the 84<sup>th</sup> percentile and the vocabulary, voice, and receptive language measures were within standard normative range. In contrast, expressive language difficulties and articulatory difficulties associated with impaired oro-motor skills were apparent. Specific tongue-motor difficulty impeded oral diadochokinesis, with gliding, stopping, and cluster reduction among the phonological processes observed to mitigate oro-motor difficulties. Language scores were lowest on tasks of working memory, syntax, and pragmatics, however neither syntax nor pragmatics presented increased difficulty in naturalistic conversation, indicating an influence of reduced working memory on language performance. The absence of explicit cognitive or communicative difficulty suggests specific speech and language difficulties. To conclude, the findings are discussed from both clinical and theoretical perspectives. Watson syndrome and the aetiology of communication difficulties are suggested as directions for future research, to validate these findings and diversify understanding of inclusive communication approaches.</p>","PeriodicalId":49219,"journal":{"name":"Clinical Linguistics & Phonetics","volume":" ","pages":"1-24"},"PeriodicalIF":0.8000,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Linguistics & Phonetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/02699206.2025.2472051","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"AUDIOLOGY & SPEECH-LANGUAGE PATHOLOGY","Score":null,"Total":0}
引用次数: 0

Abstract

Watson syndrome is a rare genetic condition partly characterised by developmental delays and learning difficulties. A profile of speech and language skills associated with this developmental syndrome is yet to be described in the literature. In order to address this gap, this study presents the case of an 18-year-old man with Watson syndrome and reports both standardised and naturalistic assessments of speech, language, oro-motor skills, and semantic and phonemic fluency. Analyses included norm-referencing, discrepancy comparison, phonological process analysis, and acoustic analyses of voice and conversational fluency. The participant's semantic fluency approximated to the 84th percentile and the vocabulary, voice, and receptive language measures were within standard normative range. In contrast, expressive language difficulties and articulatory difficulties associated with impaired oro-motor skills were apparent. Specific tongue-motor difficulty impeded oral diadochokinesis, with gliding, stopping, and cluster reduction among the phonological processes observed to mitigate oro-motor difficulties. Language scores were lowest on tasks of working memory, syntax, and pragmatics, however neither syntax nor pragmatics presented increased difficulty in naturalistic conversation, indicating an influence of reduced working memory on language performance. The absence of explicit cognitive or communicative difficulty suggests specific speech and language difficulties. To conclude, the findings are discussed from both clinical and theoretical perspectives. Watson syndrome and the aetiology of communication difficulties are suggested as directions for future research, to validate these findings and diversify understanding of inclusive communication approaches.

华生综合症患者的言语和语言能力。
沃森综合征是一种罕见的遗传疾病,部分特征是发育迟缓和学习困难。与这种发育综合症相关的言语和语言技能的概况尚未在文献中描述。为了解决这一差距,本研究提出了一名患有沃森综合征的18岁男子的病例,并报告了对言语、语言、口头运动技能以及语义和音位流畅性的标准化和自然评估。分析包括规范参考、差异比较、语音过程分析、语音和会话流畅性的声学分析。参与者的语义流畅性接近第84百分位,词汇量、语音和接受性语言测量在标准规范范围内。相反,与肢体运动技能受损相关的表达性语言困难和发音困难是明显的。特定的舌头运动困难阻碍了口腔运动,语音过程中的滑动、停顿和集群减少可以减轻舌头运动困难。在工作记忆、语法和语用任务中,语言得分最低,但在自然对话中,语法和语用都没有增加难度,这表明工作记忆减少对语言表现的影响。没有明确的认知或交际困难表明有特定的言语和语言困难。最后,从临床和理论两个角度对研究结果进行了讨论。作者建议将沃森综合征和沟通困难的病因学作为未来研究的方向,以验证这些发现,并丰富对包容性沟通方法的理解。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
Clinical Linguistics & Phonetics
Clinical Linguistics & Phonetics AUDIOLOGY & SPEECH-LANGUAGE PATHOLOGY-REHABILITATION
CiteScore
2.70
自引率
16.70%
发文量
74
审稿时长
6-12 weeks
期刊介绍: Clinical Linguistics & Phonetics encompasses the following: Linguistics and phonetics of disorders of speech and language; Contribution of data from communication disorders to theories of speech production and perception; Research on communication disorders in multilingual populations, and in under-researched populations, and languages other than English; Pragmatic aspects of speech and language disorders; Clinical dialectology and sociolinguistics; Childhood, adolescent and adult disorders of communication; Linguistics and phonetics of hearing impairment, sign language and lip-reading.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信