Clinical Analysis Of Disorders Of Hearing And Balance

听力和平衡障碍的临床分析

• 批准号: 8565503
• 负责人: Carmen Crowell Brewer
• 金额: $ 102.74万
• 依托单位: NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/8565503
• 关键词: Acoustic Neuroma; Affect; Age; Aminoglycosides; Antineoplastic Agents; Audiology; Auditory; Brain Neoplasms; Breathing; Characteristics; Clinical; Clinical Research; Clinical Trials; Collaborations; Complex; Data; Data Collection; Diagnostic; Disease; Ear Diseases; Early Diagnosis; Early identification; England; Epilepsy; Equilibrium; Equipment; Evaluation; Explosion; Exposure to; Familial amyloid nephropathy with urticaria and deafness; Familial disease; Family; Fanconi' s Anemia; Festival; Functional disorder; Gangliosidoses; Gender; Genotype; Gilles de la Tourette syndrome; Head and neck structure; Hearing; Heritability; Immunotherapy; Individual; Inflammatory; Inherited; Institutes; International; Magnetic Resonance Imaging; Manuscripts; McCune-Albright Syndrome; Measures; Methodology; Modality; Modeling; Molecular Biology; Molecular Genetics; Monitor; Musculoskeletal Equilibrium; Mycobacterium Infections; National Human Genome Research Institute; National Institute of Allergy and Infectious Disease; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institute of Child Health and Human Development; National Institute of Dental and Craniofacial Research; National Institute of Neurological Disorders and Stroke; National Institute on Deafness and Other Communication Disorders; Natural History; Neonatal; Neurofibromatosis 2; Oculocutaneous Albinism; Osteogenesis Imperfecta; Otolaryngology; Pancytopenia; Parents; Participant; Patients; Performance; Persons; Phenotype; Platinum Compounds; Polyostotic fibrous dysplasia; Preparation; Prevention; Principal Investigator; Procedures; Process; Progeria; Protocols documentation; Publications; Radiation therapy; Research; Research Design; Research Personnel; Risk; Sensory; Series; Siblings; Smith Magenis syndrome; Smith-Lemli-Opitz Syndrome; Speech; Stimulus; Syndrome; System; Test Result; Testing; Time; Tinnitus; Transcranial magnetic stimulation; Trichothiodystrophy; Turner' s Syndrome; Twin Multiple Birth; United States National Institutes of Health; Usher Syndrome; Vestibular Aqueduct; Vision; Von Hippel-Lindau Syndrome; WAGR Syndrome; Xeroderma Pigmentosum; Zein; base; bevacizumab; clinical Diagnosis; hearing impairment; interest; meetings; outcome forecast; posters; proband; research clinical testing; research study; skills; sound

1. We have recently initiated a new protocol in which we will establish normative function of various aspects of auditory and vestibular function (Dr. Brewer, Mr. Zalewski, and Dr. KIng). This data will serve as a reference interval of normal performance by which test results can be interpreted as normal or abnormal, and will be used as control data for the purpose of comparison to data obtained in various patient groups in our collaborative research. We also plan to examine the effects of various methodologies, stimulus characteristics, test equipment, test paradigms, and the influence of non-pathologic subject characteristics (e.g. age, gender) on normal function, and to evaluate intra-subject variability on auditory and vestibular measures. 2. In collaboration with Drs. Griffith and Friedman of the NIDCD, and Dr. Moore and Ms. Ferguson of the Institute for Hearing Research (Nottingham, England) the Audiology Unit is using a series of non-speech tests to evaluate sensory/temporal aspects of auditory processing. These tests are administered to twins attending an annual twins festival in an effort to determine heritability of auditory processing skills. We have previously identified heritability of speech-based auditory processing skills and are extending our research to evaluation of non-speech based skills. 3. In collaboration with the Molecular Biology and Genetics section, the Audiology Unit performs auditory and vestibular phenotypic assessments of individuals with hearing loss and enlarged vestibular aqueducts (EVA), as well as their siblings and parents. Over 90 probands and their families have now been ascertained. The audiology unit continues to evaluate details of the auditory phenotype to search for features that predict genotype, clinical prognosis, or clinical diagnosis. We contributed to two publications in 2011. 4. In collaboration with Drs Friedman and Griffith of the NIDCD and Dr Zein of the NEI, the Audiology Unit continues to evaluate auditory and balance function in persons with Usher Syndrome. We are interested in postural balance skills and their relationship to vestibular and visual function, type of Usher syndrome, and the progression of these skills over time. We contributed to two publications in 2011. 5. In collaboration with Dr. Friedman (NIDCD), we have reviewed and analyzed audiometric data from outside facilities used in his studies of molecular genetics of hearing loss. We contributed to one publication in 2011. 6. In collaboration with Dr. Horwitz (NIDCD), we have provided auditory assessments of participants in his protocols modeling CNS function in tinnitus (we contributed to one publication in 2011) and epilepsy. 7. In collaboration with investigators from other NIH institutes, we continue to evaluate auditory manifestations in Niemann Pick type C and Smith-Lemli Opitz Syndrome (Dr. Porter, NICHD), neonatal onset multi-system inflammatory disorder, familial cold autoinflammatory syndrome, and Muckle-Wells syndrome (Dr. Goldbach-Mansky, NIAMS)(we contributed to two publications - one in 2011 and the other in 2012), Fanconi anemia and other inherited bone marrow failure syndromes (Dr. Alter, NCI), xeroderma pigmentosum and trichothiodystrophy (Dr. Kraemer, NCI), McCune-Albright syndrome and polyostotic fibrous dysplasia (Dr. Collins, NIDCR), von Hippel-Lindau disease (Lonser, NINDS). Smith-Magenis syndrome (Ms. Smith, NHGRI), Turner syndrome (Dr. Bondy, NICHD), osteogenesis imperfecta (Marini, NICHD), and Hutchinson-Progeria syndrome (Gahl, NHGIR)(one publication in 2011) We are interested in the auditory phenotype, natural history of hearing, and relationships to other aspects of disease/disorder and genotype. 8. In collaboration with investigators from other NIH institutes, we are evaluating hearing, electophysiologic auditory function, and central auditory processing manifestations in persons with WAGR syndrome (Dr. Han, NICHD), oculocutaneous albinism (Dr. Adams, NHGRI), neurfibromatosis type I (Dr. Widemann, NCI), Tourette syndrome (Drs. Hallett and Belluscio), and gangliosidosis types 1 and 2 (Dr. Tifft, NHGRI). We are interested in the auditory phenotype, including processing of dichotic and other complex sounds, and relationships to other aspects of the disease/disorder and genotype. 9. In collaboration with investigators from other NIH institutes, the Audiology Unit is evaluating hearing, electrophysiologic auditory function, vestibular function, and postural balance in persons with neurofibromatosis type 2 (Drs. Asthagiri and Lonser, NINDS). We are interested in sensitivity of these assessments in early detection and monitoring of vestibular schwannomas and have one publication in press. 10. In collaboration with investigators from other NIH institutes, the Audiology Unit is evaluating hearing and vestibular funciton in persons with exposure to breacher explosions (Drs. Wasserman and LoPresti, NINDS). We are interested in the effects of repeated exposures on the auditory and vestibular systems. 11. In collaboration with investigators from other NIH institutes, we continue to implement and analyze studies of the auditory and/or vestibular system of persons participating in clinical procedures or therapies in which the auditory and/or vestibular system may be at risk. These clinical trials include inhaled and IV aminoglycosides for mycobacterium infections (Drs. Holland and Olivier, NIAID), antineoplastic platinum compounds (Drs. Widemann, Gramza, Hassan, NCI, Dr.), immunotherapy (Dr. Rosenberg, NCI)(one publication in 2012), radiation therapy for brain tumors (Dr. Warren, NCI), transcranial magnetic stimulation (Drs. Hallett and Damiano, NINDS), and bevacizumab for management of NF2 (Dr. Widemann, NCI). We are interested in early identification of auditory/vestibular dysfunction, and management/prevention of auditory and/or vestibular dysfunction.

1. 我们最近启动了一项新的协议，其中我们将建立听觉和前庭功能各个方面的规范功能（Brewer 博士、Zalewski 先生和 KIng 博士）。 该数据将作为正常表现的参考区间，通过该区间可以将测试结果解释为正常或异常，并将用作对照数据，以便与我们合作研究中不同患者组获得的数据进行比较。 我们还计划检查各种方法、刺激特征、测试设备、测试范式的影响以及非病理受试者特征（例如年龄、性别）对正常功能的影响，并评估受试者内部对听觉和前庭的变异性措施。 2. 与博士合作。 NIDCD 的 Griffith 和 Friedman 以及听力研究所（英国诺丁汉）听力学部门的 Moore 博士和 Ferguson 女士正在使用一系列非言语测试来评估听觉处理的感觉/时间方面。 这些测试对参加一年一度的双胞胎节的双胞胎进行，以确定听觉处理技能的遗传性。 我们之前已经确定了基于语音的听觉处理技能的遗传性，并将我们的研究扩展到非基于语音的技能的评估。 3. 听力学科与分子生物学和遗传学科合作，对听力损失和前庭导水管扩大 (EVA) 的个体及其兄弟姐妹和父母进行听觉和前庭表型评估。目前已有 90 多名先证者及其家人的身份得到确定。听力学部门继续评估听觉表型的细节，以寻找预测基因型、临床预后或临床诊断的特征。 2011 年，我们为两份出版物做出了贡献。 4. 听力学单位与 NIDCD 的 Friedman 和 Griffith 博士以及 NEI 的 Zein 博士合作，继续评估亚瑟综合症患者的听觉和平衡功能。 我们对姿势平衡技能及其与前庭和视觉功能的关系、亚瑟综合症的类型以及这些技能随时间的进展感兴趣。 2011 年，我们为两份出版物做出了贡献。 5. 我们与 Friedman 博士 (NIDCD) 合作，审查并分析了他在听力损失分子遗传学研究中使用的外部设施的听力测量数据。 2011 年，我们为一份出版物做出了贡献。 6. 我们与 Horwitz 博士 (NIDCD) 合作，在他的方案中为参与者提供了听觉评估，该方案模拟了耳鸣（我们在 2011 年发表了一份出版物）和癫痫的中枢神经系统功能。 7. 与其他 NIH 机构的研究人员合作，我们继续评估 Niemann Pick C 型和 Smith-Lemli Opitz 综合征（NICHD 波特博士）、新生儿发病的多系统炎症性疾病、家族性感冒自身炎症综合征和Muckle-Wells 综合征（哥德巴赫-曼斯基博士，NIAMS）（我们撰写了两篇出版物 - 一篇于 2011 年，另一篇于 2011 年） 2012）、范可尼​​贫血和其他遗传性骨髓衰竭综合征（Alter 博士，NCI）、色素性干皮病和毛发硫营养不良症（Kraemer 博士，NCI）、McCune-Albright 综合征和多骨性纤维异常增殖症（Collins 博士，NIDCR）、von Hippel -林道病（Lonser，NINDS）。 Smith-Magenis 综合征（Ms. Smith，NHGRI）、Turner 综合征（Dr. Bondy，NICHD）、成骨不全症（Marini，NICHD）和 Hutchinson-Progeria 综合征（Gahl，NHGIR）（2011 年发表的一篇文章） 我们感兴趣的是听觉表型、听力自然史以及与疾病/紊乱和基因型其他方面的关系。 8. 与其他 NIH 机构的研究人员合作，我们正在评估 WAGR 综合征（Han 博士，NICHD）、眼皮肤白化病（Adams 博士，NHGRI）、神经纤维瘤病型患者的听力、电生理听觉功能和中枢听觉处理表现。 I（Widemann 博士，NCI）、图雷特综合征（Hallett 和 Belluscio 博士）和神经节苷脂沉积症类型1 和 2（蒂夫特博士，NHGRI）。我们对听觉表型感兴趣，包括二分音和其他复杂声音的处理，以及与疾病/紊乱和基因型其他方面的关系。 9. 听力学科与其他 NIH 机构的研究人员合作，正在评估 2 型神经纤维瘤病患者的听力、电生理听觉功能、前庭功能和姿势平衡（Asthagiri 和 Lonser 博士，NINDS）。 我们对这些评估在前庭神经鞘瘤早期检测和监测方面的敏感性感兴趣，并已出版一篇出版物。 10. 听力学组与其他 NIH 机构的研究人员合作，正在评估暴露于爆破爆炸的人员的听力和前庭功能（Wasserman 和 LoPresti 博士，NINDS）。 我们感兴趣的是重复暴露对听觉和前庭系统的影响。 11. 与其他 NIH 机构的研究人员合作，我们继续对参与听觉和/或前庭系统可能面临风险的临床程序或治疗的人员的听觉和/或前庭系统进行研究和分析。 这些临床试验包括用于分枝杆菌感染的吸入和静脉注射氨基糖苷类药物（Drs. Holland 和 Olivier，NIAID）、抗肿瘤铂类化合物（Drs. Widemann、Gramza、Hassan、NCI 博士）、免疫疗法（Dr. Rosenberg，NCI）（一项出版物） 2012 年）、脑肿瘤放射治疗（Warren 博士，NCI）、经颅磁刺激（Hallett 和 Damiano 博士， NINDS）和用于治疗 NF2 的贝伐单抗（Widemann 博士，NCI）。 我们对听觉/前庭功能障碍的早期识别以及听觉和/或前庭功能障碍的管理/预防感兴趣。