Characterization of clinical phenotypes of laryngeal dystonia and voice tremor

项目总结/摘要 局灶性喉肌张力障碍（LD）是一种罕见的神经语音障碍， 出现紧张窒息的音质或导致发声停止或产生突然的呼吸。那些 患有LD的患者通常在获得准确诊断之前5年报告症状发作， 尽管看过多位专家。声音震颤（VT）是另一种神经性声音障碍， 听众的声音质量不稳定。严重的VT可能导致声音中断，听起来类似于LD， 专家的误诊。最近的研究表明，区分LD与其他LD的可靠性很差。 语音障碍，很大程度上是由于依赖于知觉评估方法和广泛的临床 没有证据来指导准确的诊断方法。VT尤其如此， 没有明确记录的临床特征的疾病，因此使用当前的分类是不可能的。 运动障碍共识为基础的震颤综合征标准。LD与VT的准确鉴别诊断 对于有效的治疗计划和管理以及准确的临床和流行病学研究至关重要。 特征和分类。这个项目的目标是系统地描述个人 LD和VT使用目前可用的和新的临床工具，以确定区分临床 其特征高度预测其正确诊断。将对65名受试者进行三项研究 每例均经多学科共识诊断，符合LD和VT标准，以及35例神经典型性 正常对照者所有参与者都将接受彻底的筛选和测试，以确保就以下问题达成共识： 他们的小组由来自语言病理学、神经学和耳鼻喉科的专家分配。 此后，将使用声学、空气动力学、 喉肌电图和鼻内窥镜检查来量化语音模式的周期性和任务特异性。小说 评估工具和措施也将用于研究身体分布，语言症状的情况， 和语音结构运动（运动学）模式的规律性或不规则性/音素特异性， 高速视频内窥镜（HSV）、实时磁共振成像（rtMRI）和鼻内窥镜 录音期间持续发声相比，语音和语音加载的句子。计算 建模将用于评估空气动力学、喉肌电和语音结构运动学模式， 模拟预测组成员为VT或LD患者特异性声输出。这件事的结果 研究将大大推进我们关于最佳临床工具的临床和科学知识， LD和VT临床特征的测量，导致这些神经性言语的精确诊断 紊乱

PROJECT SUMMARY / ABSTRACT Focal laryngeal dystonia (LD) is a rare neurological voice disorder that interrupts speaking with intermittent onset of a strained-strangled voice quality or causes voicing to stop or produce sudden breathiness. Those suffering from LD commonly report onset of symptoms 5 years prior to achieving an accurate diagnosis, despite seeing multiple experts. Voice tremor (VT) is another neurological voice disorder that is perceived by listeners as a shaky voice quality. Severe VT can result in voice interruptions that sound similar to LD resulting in misdiagnosis by experts. Recent research shows poor reliability in distinguishing those with LD from other voice disorders, largely due to the reliance on perceptual assessment methods and a wide range of clinical criteria without evidence to guide accurate diagnostic approaches. This is particularly true of VT, a voice disorder without clearly documented clinical features such that classification is not possible using current movement disorder consensus-based tremor syndrome criteria. Accurate differential diagnosis of LD from VT is essential to effective treatment planning and management as well as for accurate clinical and epidemiologic characterization and classification. The goal of this project is to systematically characterize individuals with LD and VT using currently available and novel clinical tools to determine distinguishing clinical features highly predictive of their correct diagnosis. Three studies will be conducted with 65 individuals each diagnosed by multi-disciplinary consensus to meet criteria for LD and VT as well as 35 neurotypical normal controls. All participants will undergo thorough screening and testing to assure consensus regarding their group assignment by experts from speech-language pathology, neurology, and otolaryngology. Thereafter, clinical phenotypic features will be compared between groups using acoustic, aerodynamic, laryngeal EMG, and nasoendoscopy to quantify periodicity and task-specificity of voice patterns. Novel assessment tools and measures will also be used to study body distribution, condition of speech symptoms, and regularity or intermittency/phoneme-specificity of speech structure movement (kinematic) patterns using high speed videoendoscopy (HSV), real-time magnetic resonance imaging (rtMRI), and nasoendoscopy recordings during sustained phonation compared to voice- and voiceless-loaded sentences. Computational modeling will be used to assess aerodynamic, laryngeal EMG and speech structure kinematic patterns to simulate patient-specific acoustic output predictive of group membership as VT or LD. Outcomes of this research will significantly advance our clinical and scientific knowledge regarding optimal clinical tools and measures of LD and VT clinical features that result in precise diagnosis of these neurological speech disorders.