Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Department of Systems Medicine, University of Roma Tor Vergata, Rome, Italy.
Cerebellum. 2020 Feb;19(1):126-130. doi: 10.1007/s12311-019-01084-8.
Speech and language disorders are prominent signs in Friedreich ataxia (FRDA), which significantly impact on patients' quality of life. Despite such relevance, several issues regarding phenomenology, assessment, and treatment are still unmet. In this short review, we thus analyzed the existing literature to summarize what is known about the features of speech and language disorders in FRDA, which methods are used for evaluation and rating, and what are the available therapeutic strategies and future direction of scientific research in this field, in order to highlight critical aspects for a better clinical approach to the problem. FRDA patients often present dysarthria, resulting from central and peripheral causes and additional primary language disorders. Speech disturbances have peculiar characteristics, although variable among patients, and progress along the disease course. Assessment relies on multiple but not specific clinical scales, some of which can also reflect the general severity of ataxia; classical instrumental investigations and novel technologies allow more accurate measurements of several speech parameters, which could found application as potential disease's biomarkers. No successful treatments exist for communication disorders of FRDA patients; however, the tailored speech training or the non-invasive neuromodulation appear as the most reliable therapeutic options to be validate in future trials.
言语和语言障碍是弗里德里希共济失调(FRDA)的突出症状,严重影响患者的生活质量。尽管具有如此重要的相关性,但在现象学、评估和治疗方面仍存在一些未满足的需求。在这篇简短的综述中,我们分析了现有文献,总结了 FRDA 患者言语和语言障碍的特征、用于评估和评分的方法,以及该领域现有的治疗策略和未来的科学研究方向,以突出该问题临床处理的关键方面。FRDA 患者常表现为由中枢和外周原因引起的构音障碍,以及其他原发性语言障碍。尽管患者之间存在差异,但言语障碍具有独特的特征,并随疾病进程而发展。评估依赖于多种但非特异性的临床量表,其中一些量表也可以反映共济失调的总体严重程度;经典的仪器检查和新的技术可以更准确地测量几个言语参数,这些参数可以作为潜在疾病的生物标志物。目前还没有针对 FRDA 患者的交流障碍的成功治疗方法;然而,针对言语的个体化训练或非侵入性神经调节可能是未来试验中最可靠的治疗选择。