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弗里德赖希共济失调:构音障碍特征和临床数据。

Friedreich ataxia: dysarthria profile and clinical data.

机构信息

Department of General Neurology, Hertie Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Strasse 3, 72076, Tübingen, Germany.

出版信息

Cerebellum. 2013 Aug;12(4):475-84. doi: 10.1007/s12311-012-0440-0.

Abstract

Friedreich ataxia (FRDA) is the most frequent recessive ataxia in the Western world. Dysarthria is a cardinal feature of FRDA, often leading to severe impairments in daily functioning, but its exact characteristics are only poorly understood so far. We performed a comprehensive evaluation of dysarthria severity and the profile of speech motor deficits in 20 patients with a genetic diagnosis of FRDA based on a carefully selected battery of speaking tasks and two widely used paraspeech tasks, i.e., oral diadochokinesis and sustained vowel productions. Perceptual ratings of the speech samples identified respiration, voice quality, voice instability, articulation, and tempo as the most affected speech dimensions. Whereas vocal instability predicted ataxia severity, tempo turned out as a significant correlate of disease duration. Furthermore, articulation predicted the overall intelligibility score as determined by a systematic speech pathology assessment tool. In contrast, neurologists' ratings of intelligibility--a component of the "Scale for the Assessment and Rating of Ataxia"--were found to be related to perceived speech tempo. Obviously, clinicians are more sensitive to slowness of speech than to any other feature of spoken language during dysarthria evaluation. Our results suggest that different components of speech production and trunk/limb motor functions are differentially susceptible to FRDA pathology. Furthermore, evidence emerged that paraspeech tasks do not allow for an adequate scaling of speech deficits in FRDA.

摘要

弗里德赖希共济失调(FRDA)是西方世界最常见的隐性共济失调。构音障碍是 FRDA 的一个主要特征,通常导致严重的日常功能障碍,但迄今为止,其确切特征仍知之甚少。我们对 20 名经基因诊断为 FRDA 的患者进行了全面的构音障碍严重程度评估和言语运动缺陷特征分析,这些患者基于精心选择的一系列口语任务和两种广泛使用的副语言任务(即口腔交替发音和持续元音发音)。对语音样本的感知评估确定呼吸、语音质量、语音不稳定、发音和节奏是受影响最严重的语音维度。虽然语音不稳定可预测共济失调严重程度,但节奏是与疾病持续时间的显著相关因素。此外,发音预测了由系统言语病理学评估工具确定的整体可理解度得分。相比之下,神经科医生对可理解度的评估(“共济失调评估和评分量表”的一个组成部分)被发现与感知的语音节奏有关。显然,在构音障碍评估过程中,临床医生比其他任何口语特征都更能察觉到言语的缓慢。我们的研究结果表明,言语产生和躯干/肢体运动功能的不同成分对 FRDA 病理的敏感性不同。此外,有证据表明,副语言任务不能对 FRDA 中的语音缺陷进行充分的评估。

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