Characterization of clinical phenotypes of laryngeal dystonia and voice tremor

喉肌张力障碍和声音震颤的临床表型特征

• 批准号: 10689289
• 负责人: Kristina Simonyan
• 金额: $ 40.45万
• 依托单位: MASSACHUSETTS EYE AND EAR INFIRMARY
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-09-15 至 2026-08-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10689289
• 关键词: Acoustics; Affect; Agreement; Assessment tool; Auditory; Behavior; Breathing; Characteristics; Classification; Clinical; Clinical assessments; Computer Models; Consensus; Diagnosis; Differential Diagnosis; Disease; Dystonia; Epidemiology; Essential Tremor; Exhibits; Frequencies; Functional disorder; Goals; Human; Individual; Intention Tremor; Interruption; Knowledge; Larynx; Literature; Magnetic Resonance Imaging; Measurable; Measures; Medical; Medical History; Methods; Mission; Modeling; Movement; Movement Disorders; Neurologic; Neurologic Voice Disorder; Neurology; Otolaryngologist; Otolaryngology; Outcome; Outcomes Research; Output; Participant; Patient Self-Report; Patients; Pattern; Periodicals; Periodicity; Phonation; Physiological; Production; Protocols documentation; Publishing; Questionnaires; Rare Diseases; Recording of previous events; Reporting; Research; Sampling; Scientific Advances and Accomplishments; Signal Transduction; Spasm; Spastic Dysphonias; Specialist; Specificity; Speech; Speech Disorders; Speech-Language Pathology; Speed; Structure; Symptoms; Syndrome; Testing; Time; Tremor; United States National Institutes of Health; Visual; Voice; Voice Disorders; Voice Quality; Work; accurate diagnosis; accurate diagnostics; clinical phenotype; clinical predictors; cohort; demographics; diagnostic accuracy; diagnostic strategy; disability; effective therapy; evidence base; experience; improved; insight; instrument; kinematics; multidisciplinary; next generation; novel; patient stratification; research study; screening; sound; tool; treatment planning; vocal cord

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.

项目摘要 /摘要 局灶性喉肌肌张力局（LD）是一种罕见的神经科语音障碍，与间歇性说话中断 紧张的声音质量的发作或导致发声停止或突然呼吸。那些 患有LD通常报告症状发作5年之前，在获得准确的诊断之前， 尽管看到了多个专家。配音震颤（VT）是另一种神经系统障碍，被认为 听众是一种摇摇欲坠的声音质量。严重的VT会导致声音中断，听起来与LD相似 专家的误诊。最近的研究表明，将LD与其他人区分开的可靠性差 语音障碍，很大程度上是由于对感知评估方法的依赖和广泛的临床 没有证据的标准来指导准确的诊断方法。 VT尤其如此，声音 没有明确记录的临床特征的疾病，因此无法使用电流进行分类 基于运动障碍共识的震颤综合征标准。从VT对LD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至关重要 表征和分类。该项目的目标是系统地表征个人 使用LD和VT使用当前可用的新型临床工具来确定临床的区别 具有高度预测其正确诊断的功能。将对65个人进行三项研究 每个通过多学科共识诊断的每个人都符合LD和VT标准以及35个神经型 正常对照。所有参与者将进行彻底的筛选和测试，以确保就 他们由言语病理学，神经病学和耳鼻喉科的专家组成的小组分配。 此后，将使用声学，空气动力学的组比较临床表型特征 喉EMG和鼻腔内镜检查，以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，语音症状的状况， 使用语音结构运动（运动学）模式的规律性或间歇性或音素特异性使用 高速视频镜检查（HSV），实时磁共振成像（RTMRI）和鼻腔内镜检查 与语音和无声的句子相比，持续发音期间的录音。计算 建模将用于评估空气动力学，喉EMG和语音结构运动学模式 模拟患者特异性的声学输出预测小组成员资格为VT或LD。结果 研究将大大提高我们有关最佳临床工具的临床和科学知识 LD和VT临床特征的度量，可精确诊断这些神经系统言语 疾病。