Keage Megan J, Delatycki Martin B, Gupta Isabelle, Corben Louise A, Vogel Adam P
Centre for Neuroscience of Speech, The University of Melbourne, 550 Swanston Street, Parkville, Melbourne, VIC, 3010, Australia.
Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.
Dysphagia. 2017 Oct;32(5):626-635. doi: 10.1007/s00455-017-9804-4. Epub 2017 May 4.
The objective of the study was to comprehensively characterise dysphagia in Friedreich ataxia (FRDA) and identify predictors of penetration/aspiration during swallowing. We also investigated the psychosocial impact of dysphagia on individuals with FRDA. Sixty participants with FRDA were screened for dysphagia using a swallowing quality of life questionnaire (Swal-QOL) and case history. Individuals reporting dysphagia underwent a standardised oromotor assessment (Frenchay Dysarthria Assessment, 2, FDA-2) and videofluoroscopic study of swallowing (VFSS). Data were correlated with disease parameters (age at symptom onset, age at assessment, disease duration, FXN intron 1 GAA repeat sizes, and Friedreich Ataxia Rating Scale (FARS) score). Predictors of airway penetration/aspiration were explored using logistic regression analysis. Ninety-eight percent (59/60) of participants reported dysphagia, of whom 35 (58.3%) underwent FDA-2 assessment, and 38 (63.3%) underwent VFSS. Laryngeal, respiratory, and tongue dysfunction was observed on the FDA-2. A Penetration-Aspiration Scale score above 3 (deemed significant airway compromise based on non-clinical groups) was observed on at least one consistency in 13/38 (34.2%) participants. All of those who aspirated (10/38, 26.3%) did so silently, with no overt signs of airway entry such as reflexive cough. Significant correlations were observed between dysphagic symptoms and disease duration and severity. No reliable predictors of penetration or aspiration were identified. Oropharyngeal dysphagia is commonly present in individuals with FRDA and worsens with disease duration and severity. Individuals with FRDA are at risk of aspiration at any stage of the disease and should be reviewed regularly. Instrumental analysis remains the only reliable method to detect aspiration in this population. Dysphagia significantly affects the quality of life of individuals with FRDA.
本研究的目的是全面描述弗里德赖希共济失调（FRDA）患者的吞咽困难情况，并确定吞咽过程中食物穿透/误吸的预测因素。我们还调查了吞咽困难对FRDA患者的心理社会影响。使用吞咽生活质量问卷（Swal-QOL）和病史对60名FRDA患者进行吞咽困难筛查。报告有吞咽困难的个体接受了标准化的口面部运动评估（Frenchay构音障碍评估，第二版，FDA-2）和吞咽视频荧光透视检查（VFSS）。数据与疾病参数（症状出现时的年龄、评估时的年龄、疾病持续时间、FXN内含子1 GAA重复序列大小以及弗里德赖希共济失调评定量表（FARS）评分）相关。使用逻辑回归分析探索气道穿透/误吸的预测因素。98%（59/60）的参与者报告有吞咽困难，其中35名（58.3%）接受了FDA-2评估，38名（63.3%）接受了VFSS检查。在FDA-2检查中观察到喉部、呼吸和舌头功能障碍。在13/38（34.2%）的参与者中，至少在一种食物黏稠度下观察到穿透-误吸量表评分高于3（根据非临床组判断为气道明显受损）。所有发生误吸的患者（10/38，26.3%）均为隐性误吸，没有明显的气道进入迹象，如反射性咳嗽。观察到吞咽困难症状与疾病持续时间和严重程度之间存在显著相关性。未发现可靠的穿透或误吸预测因素。口咽吞咽困难在FRDA患者中普遍存在，并随疾病持续时间和严重程度而加重。FRDA患者在疾病的任何阶段都有误吸风险，应定期进行复查。仪器分析仍然是检测该人群误吸的唯一可靠方法。吞咽困难显著影响FRDA患者的生活质量。
