Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
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DOI：
10.1007/s00415-018-8950-4
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发表时间：
2018-09-01
影响因子：
6
通讯作者：
Synofzik, Matthis
中科院分区：
文献类型：
--
作者：
Vogel, Adam P.;Rommel, Natalie;Synofzik, Matthis
研究背景：常染色体隐性遗传性痉挛共济失调是一种罕见的早期神经退行性疾病，主要表现为共济失调、上运动神经元功能障碍和感觉运动性周围神经病。构音障碍和吞咽困难是ARSACS的主要特征，但这些缺陷的性质、严重程度和影响尚不清楚。语言和吞咽功能的全面定量和定性特征将支持诊断，提供对潜在病理的洞察，并指导日常临床管理。方法连续11例非魁北克ARSACS患者，并与来自几个已发表和未发表的队列的健康参与者进行比较。进行了包括客观声学分析和对运动语言的专家知觉评分、神经变性吞咽困难的临床评估、视频透视以及构音障碍和吞咽相关生活质量标准化测试的综合行为评估。结果ARSACS队列中的语言以基音中断、韵律缺陷(包括频率降低和间隔延长)和发音障碍为特征。吞咽症状的特点是吞咽反射的启动延迟和会厌晚期闭合。十分之四的患者在视频透视下观察到吸入稀薄液体。患者报告说，他们经常在用餐时间咳嗽或被稀薄的液体和固体窒息。吞咽和言语相关的生活质量在除睡眠以外的所有领域都比健康对照组差。结论ARSACS队列中的吞咽困难和构音障碍反映了协调和时间安排的损害。吞咽困难是ARSACS患者功能生活质量的显著损害，与其他ARSACS功能障碍如共济失调或痉挛明显不同。
Background Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare early onset neurodegenerative disease that typically results in ataxia, upper motor neuron dysfunction and sensorimotor peripheral neuropathy. Dysarthria and dysphagia are anecdotally described as key features of ARSACS but the nature, severity and impact of these deficits in ARSACS are not known. A comprehensive quantitative and qualitative characterization of speech and swallowing function will support diagnostics, provide insights into the underlying pathology, and guide day-to-day clinical management.Methods 11 consecutive non-Quebec ARSACS patients were recruited, and compared to healthy participants from several published and unpublished cohorts. A comprehensive behavioural assessment including objective acoustic analysis and expert perceptual ratings of motor speech, the Clinical Assessment of Dysphagia in Neurodegeneration (CADN), videofluoroscopy and standardized tests of dysarthria and swallowing related quality of life was conducted.Results Speech in this ARSACS cohort is characterized by pitch breaks, prosodic deficits including reduced rate and prolonged intervals, and articulatory deficits. The swallowing profile was characterized by delayed initiation of the swallowing reflex and late epiglottic closure. Four out of ten patients were observed aspirating thin liquids on videofluoroscopy. Patients report that they regularly cough or choke on thin liquids and solids during mealtimes. Swallowing and speech-related quality of life was worse than healthy controls on all domains except sleep.Conclusions The dysphagia and dysarthria profile of this ARSACS cohort reflects impaired coordination and timing. Dysphagia contributes to a significant impairment in functional quality of life in ARSACS, and appears to manifest distinctly from other ARSACS dysfunctions such as ataxia or spasticity.