Vogel Adam P, Brown Sophie E, Folker Joanne E, Corben Louise A, Delatycki Martin B
Speech Neuroscience Unit, The University of Melbourne, 550 Swanston Street, Parkville, Melbourne, VIC, 3010, Australia,
J Neurol. 2014 Feb;261(2):392-9. doi: 10.1007/s00415-013-7208-4. Epub 2013 Dec 27.
Dysphagia in Friedreich ataxia (FRDA) and its impact on quality of life is not adequately understood. The objective of this study was to characterise dysphagia in FRDA and to determine the impact of swallowing dysfunction on activities, participation, and sense of well-being. Thirty-six individuals with a confirmed diagnosis of FRDA were assessed via a clinical bedside examination (CBE), the Royal Brisbane Hospital outcome measure for swallowing, an oral-motor examination and the Australian therapy outcome measures for speech and swallowing (AusTOMS). Data on swallowing function, diet modification and swallowing strategies were collated. Thirty-three (91.67 %) participants exhibited clinical signs of dysphagia according to the CBE, and all participants received ratings indicating swallowing difficulties on at least one other measure. Dysphagia in FRDA is characterised by oral and pharyngeal stage impairment relating to incoordination, weakness and spasticity. A significant positive correlation was found between the severity of impairment, activity, participation and distress/well-being on the AusTOMS, suggesting that swallowing function decreases with overall reductions in quality of life. A significant correlation was found between activity on the AusTOMS and disease duration (r = -0.283, p = 0.012). No significant correlations were found between dysphagia severity and GAA repeat length, age of onset or disease severity. Participants employing diet modification and swallowing strategies demonstrated higher dysphagia severity, activity limitations and participation restrictions. These data advocate a holistic approach to dysphagia management in FRDA. Early detection of swallowing impairment and consideration of the potential impact dysphagia has on quality of life should be key aspects in disease management.
弗里德赖希共济失调（FRDA）中的吞咽困难及其对生活质量的影响尚未得到充分理解。本研究的目的是描述FRDA中的吞咽困难，并确定吞咽功能障碍对活动、参与和幸福感的影响。通过临床床边检查（CBE）、皇家布里斯班医院吞咽结果测量、口腔运动检查以及澳大利亚言语和吞咽治疗结果测量（AusTOMS）对36名确诊为FRDA的个体进行了评估。整理了有关吞咽功能、饮食调整和吞咽策略的数据。根据CBE，33名（91.67%）参与者表现出吞咽困难的临床体征，并且所有参与者在至少一项其他测量中得到了表明吞咽困难的评分。FRDA中的吞咽困难表现为与不协调、无力和痉挛相关的口腔和咽部阶段受损。在AusTOMS上，损伤严重程度、活动、参与和痛苦/幸福感之间发现了显著的正相关，这表明随着生活质量的整体下降，吞咽功能也会降低。在AusTOMS上的活动与疾病持续时间之间发现了显著相关性（r = -0.283，p = 0.012）。吞咽困难严重程度与GAA重复长度、发病年龄或疾病严重程度之间未发现显著相关性。采用饮食调整和吞咽策略的参与者表现出更高的吞咽困难严重程度、活动限制和参与受限。这些数据支持对FRDA中的吞咽困难进行整体管理。早期发现吞咽损伤以及考虑吞咽困难对生活质量的潜在影响应是疾病管理的关键方面。
