Next-generation clinical phenotyping and pathophysiology of laryngeal dystonia and voice tremor

喉肌张力障碍和声音震颤的下一代临床表型和病理生理学

• 批准号: 10689281
• 负责人: Kristina Simonyan
• 金额: $ 235.34万
• 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/10689281
• 关键词: Address; Affect; Animal Model; Behavioral; Brain; Brain imaging; California; Characteristics; Clinical; Clinical Data; Clinical Management; Clinical Research; Collaborations; Communication; Complex; Data; Data Science; Deep Brain Stimulation; Development; Diagnosis; Differential Diagnosis; Disease; Disease Management; Dystonia; Ear; Effectiveness; Epidemiology; Essential Tremor; Eye; Functional disorder; General Hospitals; Goals; Human; Image; Impairment; Infrastructure; Institution; Investigation; Knowledge; Laryngeal muscle structure; Larynx; Life; Link; Machine Learning; Massachusetts; Measures; Methodology; Methods; Mission; Monitor; Motor; Movement Disorders; Neurology; Neurosciences; Occupational; Operative Surgical Procedures; Otolaryngology; Outcome Assessment; Patient Care; Patients; Phenotype; Predictive Analytics; Production; Public Health; Quality of life; Recommendation; Records; Research; Research Personnel; San Francisco; Site; Social isolation; Spastic Dysphonias; Speech; Speech Acoustics; Speech-Language Pathology; Stratification; Symptoms; Testing; Translating; Treatment Efficacy; Tremor; United States National Institutes of Health; Universities; Utah; Voice; accurate diagnosis; botulinum neurotoxin injection; clinical care; clinical decision-making; clinical examination; clinical phenotype; diagnostic criteria; disability; early detection biomarkers; effective therapy; improved; multimodality; nervous system disorder; neural; neural circuit; neuroimaging; neurophysiology; neuroregulation; neurosurgery; next generation; novel strategies; phenomenological models; programs; research study; shared repository; symptom management; symptomatology; tool; treatment planning

PROJECT SUMMARY / ABSTRACT Laryngeal dystonia (LD) and voice tremor (VT) are hyperkinetic neurological disorders that significantly impair voice and speech production and negatively impact the patient’s quality of life, extending beyond speech motor alterations and often causing occupational disability and life-long social isolation. The standards of clinical care of LD and VT are not established; that is, the differential diagnostic criteria remain vague, leading to a high rate of misdiagnosis, whereas treatment is largely limited to temporary symptom management with botulinum toxin injections into the affected laryngeal muscles. One of the major causes of suboptimal clinical care of these patients is the limited understanding of their distinct clinical characteristics and neural pathophysiology. We propose a multi-institutional, cross-disciplinary Center research program that will focus on the delineation of unique clinical and pathophysiological features of LD and VT in order to establish the fundamental framework for the enhanced clinical management of these disorders, including their accurate diagnosis and disorder-specific therapies. The Center research goals will be accomplished through collaborative clinical research studies at Massachusetts Eye and Ear Infirmary, Massachusetts General Hospital, University of California San Francisco, and University of Utah, which will include three Center Projects, a Scientific Core that incorporates the Clinical Research and Data Science components, and an Administrative Core that provides an overall organizational infrastructure to the Center activities. The overall Specific Aims of this Center will be (1) Characterization of clinical phenotypes of LD and VT; (2) Understanding disorder-specific neural pathophysiology in LD and VT; (3) Deep brain stimulation in LD and VT, and (4) Machine-learning platforms for differential diagnosis of LD and VT. We expect that our cross-disciplinary and collaborative Center, encompassing the expertise in otolaryngology, speech-language pathology, neurology, neurosurgery, brain and larynx imaging, invasive neurophysiology, and clinical neuroscience and applying complementary multimodal methodologies across these fields, will have a significant positive impact on developing new knowledge about the links between symptomatology and pathophysiology of LD and VT, which will help define the new standards of enhanced clinical care of these disorders.

项目摘要/摘要

项目成果

Mechanisms of sensorimotor adaptation in a hierarchical state feedback control model of speech.

• DOI: 10.1371/journal.pcbi.1011244
• 发表时间: 2023-07
• 期刊: PLoS computational biology
• 影响因子: 4.3

Neurophysiological trajectories in Alzheimer's disease progression.

阿尔茨海默病进展的神经生理学轨迹。

• DOI: 10.1101/2023.05.18.541379
• 发表时间: 2024
• 期刊: bioRxiv : the preprint server for biology
• 作者: Kudo,Kiwamu;Ranasinghe,KamaliniG;Morise,Hirofumi;Syed,Faatimah;Sekihara,Kensuke;Rankin,KatherineP;Miller,BruceL;Kramer,JoelH;Rabinovici,GilD;Vossel,Keith;Kirsch,HeidiE;Nagarajan,SrikantanS
• 通讯作者: Nagarajan,SrikantanS

Temporal specificity of abnormal neural oscillations during phonatory events in laryngeal dystonia.

• DOI: 10.1093/braincomms/fcac031
• 发表时间: 2022
• 期刊: Brain communications
• 影响因子: 4.8
• 作者: Kothare H;Schneider S;Mizuiri D;Hinkley L;Bhutada A;Ranasinghe K;Honma S;Garrett C;Klein D;Naunheim M;Yung K;Cheung S;Rosen C;Courey M;Nagarajan S;Houde J
• 通讯作者: Houde J