Speech Neuroscience Unit, Melbourne Medical School, University of Melbourne, Melbourne, 550 Swanston Street, Melbourne, Victoria 3010, Australia.
Neuropsychologia. 2012 Dec;50(14):3273-8. doi: 10.1016/j.neuropsychologia.2012.09.011. Epub 2012 Sep 14.
Speech disturbances (e.g., altered prosody) have been described in symptomatic Huntington's Disease (HD) individuals, however, the extent to which speech changes in gene positive pre-manifest (PreHD) individuals is largely unknown. The speech of individuals carrying the mutant HTT gene is a behavioural/motor/cognitive marker demonstrating some potential as an objective indicator of early HD onset and disease progression. Speech samples were acquired from 30 individuals carrying the mutant HTT gene (13 PreHD, 17 early stage HD) and 15 matched controls. Participants read a passage, produced a monologue and said the days of the week. Data were analysed acoustically for measures of timing, frequency and intensity. There was a clear effect of group across most acoustic measures, so that speech performance differed in-line with disease progression. Comparisons across groups revealed significant differences between the control and the early stage HD group on measures of timing (e.g., speech rate). Participants carrying the mutant HTT gene presented with slower rates of speech, took longer to say words and produced greater silences between and within words compared to healthy controls. Importantly, speech rate showed a significant correlation to burden of disease scores. The speech of early stage HD differed significantly from controls. The speech of PreHD, although not reaching significance, tended to lie between the performance of controls and early stage HD. This suggests that changes in speech production appear to be developing prior to diagnosis.
言语障碍(例如,韵律改变)已在有症状的亨廷顿病(HD)个体中被描述,然而,携带突变 HTT 基因的个体的言语变化在多大程度上是未知的。携带突变 HTT 基因的个体的言语是一种行为/运动/认知标志物,显示出作为 HD 早期发作和疾病进展的客观指标的一些潜力。从 30 名携带突变 HTT 基因的个体(13 名 PreHD,17 名早期 HD)和 15 名匹配的对照中获取了言语样本。参与者阅读一段文章,进行独白并说出一周中的天数。数据在声学上进行了分析,以测量时间、频率和强度。在大多数声学测量中,存在明显的组间效应,因此,言语表现与疾病进展一致。组间比较显示,在时间测量方面(例如,言语速度),控制组和早期 HD 组之间存在显著差异。携带突变 HTT 基因的参与者的言语速度较慢,说出单词所需的时间更长,并且在单词之间和内部产生的停顿更大。重要的是,言语速度与疾病负担评分显著相关。早期 HD 的言语与对照组有显著差异。PreHD 的言语虽然没有达到显著水平,但倾向于介于对照组和早期 HD 之间。这表明言语产生的变化似乎在诊断之前就已经开始发展。