7q11.23重复综合征患儿选择性缄默症与言语发音障碍之间的关系

IF 2.2 2区 医学 Q1 AUDIOLOGY & SPEECH-LANGUAGE PATHOLOGY Journal of Speech Language and Hearing Research Pub Date : 2024-09-26 Epub Date: 2023-09-07 DOI:10.1044/2023_JSLHR-22-00721
Shelley L Velleman, Vitor N Guimaraes, Bonita P Klein-Tasman, Myra J Huffman, Angela M Becerra, Carolyn B Mervis
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引用次数: 0

摘要

目的:本研究旨在探讨一组患有7q11.23重复综合征(Dup7)的儿童的言语发音障碍严重程度与选择性缄默症之间的关系:方法:49 名 4-17 岁的 Dup7 遗传病患儿完成了戈德曼-弗里斯托发音测试-第二版(GFTA-2)、表达词汇测试-第二版(EVT-2)和差异能力量表-第二版(DAS-II)。家长填写了焦虑症家长访谈表(ADIS-P):GFTA-2的平均标准分(SSs)为65.67分,EVT-2为92.73分,DAS-II一般概念能力(GCA;类似于智商)为82.69分。所有测量指标的标准差均大于普通人群。GFTA-2 SS与EVT-2 SS和DAS-II GCA都有明显的相关性。根据 ADIS-P,22 名参与者(45%)被诊断为选择性缄默症,29 名参与者(59%)被诊断为社交焦虑症。被诊断为选择性缄默症的一组与未被诊断为选择性缄默症的一组之间,或被诊断为选择性缄默症和/或社交焦虑症的一组与未被诊断为选择性缄默症和/或社交焦虑症的一组之间,在任何一项测量指标上的表现均无明显差异:对于患有Dup7的儿童,选择性缄默症的诊断或选择性缄默症和/或社交焦虑症的诊断都与言语发声障碍的严重程度、词汇表达能力或整体智力无关。因此,单纯治疗言语发音障碍不太可能导致选择性缄默症或社交焦虑症的缓解。相反,应直接治疗选择性缄默症和/或社交焦虑症。要确定这些研究结果是否适用于其他人群,如特发性 CAS 儿童,还需要进一步的研究。
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Relations Between Selective Mutism and Speech Sound Disorder in Children With 7q11.23 Duplication Syndrome.

Purpose: The aim of this study was to explore relations between speech sound disorder severity and selective mutism in a group of children with 7q11.23 duplication syndrome (Dup7), a genetic condition predisposing children to childhood apraxia of speech (CAS) and other speech sound disorders and to anxiety disorders, including selective mutism and social anxiety disorder.

Method: Forty-nine children aged 4-17 years with genetically confirmed Dup7 completed the Goldman-Fristoe Test of Articulation-Second Edition (GFTA-2), the Expressive Vocabulary Test-Second Edition (EVT-2), and the Differential Ability Scales-Second Edition (DAS-II). Parents completed the Anxiety Disorders Interview Schedule-Parent (ADIS-P).

Results: Mean standard scores (SSs) were 65.67 for the GFTA-2, 92.73 for the EVT-2, and 82.69 for the DAS-II General Conceptual Ability (GCA; similar to IQ). Standard deviations for all measures were larger than for the general population. GFTA-2 SS was significantly correlated with both EVT-2 SS and DAS-II GCA. Based on the ADIS-P, 22 participants (45%) were diagnosed with selective mutism and 29 (59%) were diagnosed with social anxiety disorder. No significant differences in performance on any of the measures were found either between the group with a selective mutism diagnosis and the group that did not have selective mutism or between the group with a selective mutism and/or social anxiety disorder diagnosis and the group that did not have either disorder.

Conclusions: For children with Dup7, neither the diagnosis of selective mutism nor the diagnosis of selective mutism and/or social anxiety disorder was related to severity of speech sound disorder, expressive vocabulary ability, or overall intellectual ability. Accordingly, treatment for speech sound disorder alone is unlikely to lead to remission of selective mutism or social anxiety disorder. Instead, selective mutism and/or social anxiety disorder should be treated directly. Further research is needed to determine if these findings generalize to other populations, such as children with idiopathic CAS.

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来源期刊
Journal of Speech Language and Hearing Research
Journal of Speech Language and Hearing Research AUDIOLOGY & SPEECH-LANGUAGE PATHOLOGY-REHABILITATION
CiteScore
4.10
自引率
19.20%
发文量
538
审稿时长
4-8 weeks
期刊介绍: Mission: JSLHR publishes peer-reviewed research and other scholarly articles on the normal and disordered processes in speech, language, hearing, and related areas such as cognition, oral-motor function, and swallowing. The journal is an international outlet for both basic research on communication processes and clinical research pertaining to screening, diagnosis, and management of communication disorders as well as the etiologies and characteristics of these disorders. JSLHR seeks to advance evidence-based practice by disseminating the results of new studies as well as providing a forum for critical reviews and meta-analyses of previously published work. Scope: The broad field of communication sciences and disorders, including speech production and perception; anatomy and physiology of speech and voice; genetics, biomechanics, and other basic sciences pertaining to human communication; mastication and swallowing; speech disorders; voice disorders; development of speech, language, or hearing in children; normal language processes; language disorders; disorders of hearing and balance; psychoacoustics; and anatomy and physiology of hearing.
期刊最新文献
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