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7q11.23 重复综合征患儿早期言语运动性失用症的诊断指标:初步研究结果。

Early diagnostic indicators of childhood apraxia of speech in young children with 7q11.23 duplication syndrome: preliminary findings.

机构信息

Department of Communication Sciences & Disorders, University of Vermont, Burlington, Vermont, USA.

Department of Speech-Language Pathology, Duquesne University, Pittsburgh, Pennsylvania, USA.

出版信息

Clin Linguist Phon. 2023 Jun 3;37(4-6):330-344. doi: 10.1080/02699206.2022.2080590. Epub 2022 Jun 2.

Abstract

Limited evidence for early indicators of childhood apraxia of speech (CAS) precludes reliable diagnosis before 36 months, although a few prior studies have identified several potential early indicators. We examined these possible early indicators in 10 toddlers aged 14-24 months at risk for CAS due to a genetic condition: 7q11.23 duplication syndrome (Dup7). Phon Vocalisation analyses were conducted on phonetic transcriptions of each child's vocalisations during an audio-video recorded 30-minute play session with a caregiver and/or a trained research assistant. The resulting data were compared to data previously collected by Overby from similar-aged toddlers developing typically (TD), later diagnosed with CAS (LCAS), or later diagnosed with another speech sound disorder (LSSD). The Dup7 group did not differ significantly from the LCAS group on any measure. In contrast, the Dup7 group evidenced significant delays relative to the LSSD group on canonical babble frequency, volubility, consonant place diversity, and consonant manner diversity and relative to the TD group not only on these measures but also on canonical babble ratio, consonant diversity, and vocalisation structure diversity. Toddlers with Dup7 also demonstrated expressive vocabulary delay as measured by both number of word types orally produced during the play sessions and primary caregivers' responses on a standardised parent-report measure of early expressive vocabulary. Examining babble, phonetic, and phonotactic characteristics from the productions of young children may allow for earlier identification of CAS and a better understanding of the nature of CAS.

摘要

针对儿童口语运动障碍(CAS)的早期指标的证据有限,因此无法在 36 个月之前进行可靠的诊断,尽管之前有几项研究已经确定了一些潜在的早期指标。我们在 10 名患有 7q11.23 重复综合征(Dup7)的 14-24 个月大的有 CAS 风险的幼儿中检查了这些可能的早期指标。在与照顾者和/或经过培训的研究助理进行的 30 分钟音频视频记录的游戏会话中,对每个孩子的语音进行了语音发声分析。将所得数据与 Overby 之前从发育正常(TD)的类似年龄幼儿、后来被诊断为 CAS(LCAS)或后来被诊断为其他语音障碍(LSSD)的幼儿中收集的数据进行了比较。Dup7 组在任何指标上均与 LCAS 组无显着差异。相比之下,与 LSSD 组相比,Dup7 组在典型的啁啾频率、流利度、辅音位置多样性和辅音方式多样性方面存在显着延迟,与 TD 组相比,不仅在这些指标上存在延迟,而且在典型的啁啾比、辅音多样性和发声结构多样性方面也存在延迟。Dup7 组的幼儿还表现出表达性词汇延迟,这是通过在游戏期间口头产生的单词类型的数量以及主要照顾者在标准的早期表达性词汇父母报告测量上的反应来衡量的。从幼儿的发声中检查啁啾声、语音和音位特征可能有助于更早地识别 CAS,并更好地了解 CAS 的性质。

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