Estimates of the Prevalence of Speech and Motor Speech Disorders in Youth With 22q11.2 Deletion Syndrome
Estimates of the Prevalence of Speech and Motor Speech Disorders in Youth With 22q11.2 Deletion Syndrome
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DOI：
10.1044/2018_ajslp-18-0037
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发表时间：
2019-02-01
影响因子：
2.6
通讯作者：
Shriberg, Lawrence D.
中科院分区：
文献类型：
--
作者：
Baylis, Adriane L.;Shriberg, Lawrence D.
目的：语音障碍和腭咽闭合功能障碍是22q11.2缺失综合征(22q)的常见特征。我们首次报告了22Q对青少年运动性言语障碍(MSD)患病率的估计。方法：17名儿童和青少年(22Q)完成了一项评估方案，其中包括一份会话语音样本。数据减少包括语音转录、感知语音评级、韵律语音编码和声学分析。数据分析包括3项运动语音测量和一项交叉分类分析。结果：22q受试者中58.8%的受试者符合言语延迟标准，82.4%的受试者符合MSD标准，其中29.4%患有言语运动迟缓，29.4%患有儿童期构音障碍，11.8%患有儿童期言语失用，11.8%同时伴有儿童期构音障碍和儿童期言语失用。MSD与腭咽闭合功能障碍无明显相关性。结论：总而言之，82.4%的22Q参与者符合4个MSD中的1个的标准，主要是言语运动延迟和儿童期构音障碍。本研究结果的交叉验证将支持将MSD视为22q的核心表型特征。
Purpose: Speech sound disorders and velopharyngeal dysfunction are frequent features of 22q11.2 deletion syndrome (22q). We report the first estimate of the prevalence of motor speech disorders (MSDs) in youth with 22q.Method: Seventeen children and adolescents with 22q completed an assessment protocol that included a conversational speech sample. Data reduction included phonetic transcription, perceptual speech ratings, prosody-voice coding, and acoustic analyses. Data analyses included 3 motor speech measures and a cross-classification analytic. Prevalence estimates of speech and MSDs in youth with 22q were compared with estimates in speakers with other complex neurodevelopmental disorders: Down syndrome, fragile X syndrome, and galactosemia.Results: Results indicated that 58.8% of the participants with 22q met criteria for speech delay, and 82.4% of the participants met criteria for MSDs, including 29.4% with speech motor delay, 29.4% with childhood dysarthria, 11.8% with childhood apraxia of speech, and 11.8% with concurrent childhood dysarthria and childhood apraxia of speech. MSDs were not significantly associated with velopharyngeal dysfunction.Conclusions: In summary, 82.4% of the participants with 22q met criteria for 1 of 4 MSDs, predominantly speech motor delay and childhood dysarthria. Cross-validation of the present findings would support viewing MSDs as a core phenotypic feature of 22q.