School of Health and Rehabilitation Sciences, University of Queensland, St Lucia, Brisbane, QLD, Australia.
Int J Lang Commun Disord. 2012 Jan-Feb;47(1):65-76. doi: 10.1111/j.1460-6984.2011.00078.x. Epub 2011 Aug 19.
The speech disorder associated with Friedreich's ataxia (FRDA) is classically described as ataxic dysarthria. However, variable neuropathology beyond the cerebellum, which may include the corticospinal and corticobulbar tracts, means that the dysarthria can be mixed rather than a pure ataxic dysarthria.
To characterize physiological features of the dysarthria associated with FRDA and identify differential patterns of deviation that may occur across the subsystems of the speech-production mechanism in a series of seven case studies.
METHODS & PROCEDURES: The assessment battery included a perceptual analysis of a speech sample using an interval rating scale, and a range of instrumental measures to investigate the respiratory, laryngeal, velopharyngeal and articulatory systems.
OUTCOMES & RESULTS: The results demonstrated the variability that exists in the dysarthria associated with FRDA, highlighting the existence of differential profiles of speech impairment. A particular distinction was observed between the presence of hypernasality and phonatory dysfunction, as evidenced by the instrumental results.
CONCLUSIONS & IMPLICATIONS: The distinct profiles of dysarthria associated with FRDA indicate that approaches that address multiple subsystems are necessary for the accurate characterization and quantification of the motor speech disorder. Further research is required to investigate the decline in speech function as the disease progresses, as changes in speech function over time may be a good indicator of neurological decline in FRDA.
弗里德里希共济失调（FRDA）相关的言语障碍通常被描述为共济失调性构音障碍。然而，除了小脑之外的可变神经病理学，可能包括皮质脊髓束和皮质延髓束，这意味着构音障碍可能是混合性的，而不是单纯的共济失调性构音障碍。
描述 FRDA 相关构音障碍的生理特征，并在一系列 7 例研究中确定可能发生在言语产生机制子系统中的差异偏离模式。
评估工具包包括使用间隔评分量表对言语样本进行感知分析，以及一系列仪器测量，以调查呼吸、喉、软腭和发音系统。
结果表明 FRDA 相关构音障碍存在变异性，突出了言语障碍的差异模式的存在。仪器结果表明，鼻音亢进和发声功能障碍之间存在明显区别。
与 FRDA 相关的构音障碍的独特模式表明，需要针对多个子系统的方法来准确描述和量化运动性言语障碍。需要进一步研究随着疾病进展言语功能的下降情况，因为随着时间的推移言语功能的变化可能是 FRDA 神经衰退的良好指标。
