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）。 该数据将用作正常性能的参考间隔，通过该参考性能，可以将测试结果解释为正常或异常，并将用作控制数据，以将其与我们协作研究中各个患者群体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，测试范例以及非病理学学科特征（例如年龄，性别）对正常功能的影响，并评估受主体内的变异性对听觉和前庭措施。 2。与Drs合作。 NIDCD的格里菲斯（Griffith）和弗里德曼（Friedman）以及听力研究所（英格兰诺丁汉）的摩尔博士和弗格森（Ferguson）女士正在使用一系列非语音测试来评估听觉处理的感觉/时间方面。 这些测试是针对参加年度双胞胎节的双胞胎进行的，以确定听觉处理技能的遗传力。 我们以前已经确定了基于语音的听觉处理技能的遗传力，并将我们的研究扩展到评估非语音的技能。 3。与分子生物学和遗传学部分合作，听力学部门对听力损失和前庭渡槽扩大（EVA）及其兄弟姐妹和父母进行听觉和前庭表型评估。现在已经确定了90多个概率及其家人。听力学单元继续评估听觉表型的细节，以搜索预测基因型，临床预后或临床诊断的特征。我们在2011年为两份出版物做出了贡献。 4。与NEI的NIDCD和NIDCD的Griffith博士合作，听力学部门继续评估患有Usher综合征的人的听觉和平衡功能。 我们对姿势平衡技能及其与前庭和视觉功能，usher综合征类型以及这些技能的发展感兴趣。 我们在2011年为两份出版物做出了贡献。 5。与Friedman博士（NIDCD）合作，我们审查并分析了他对听力损失分子遗传学的外部设施中使用的听力学数据。 我们在2011年为一本出版物做出了贡献。 6。与Horwitz博士（NIDCD）合作，我们在他的协议中为参与者提供了听觉评估，该协议模拟了Tinnitus中的CNS功能（我们在2011年为一个出版物做出了贡献）和癫痫病。 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）。史密斯·马格尼斯综合症（NHGRI女士），特纳综合症（Bondy博士，NICHD），骨化症Imprfecta（Marini，NICHD）和Hutchinson-Progeria综合征（Gahl，Gahl，NHGIR）（2011年的一个出版物）（一个出版物），我们对听觉疾病和基因的疾病和其他方面的疾病和其他方面的疾病和其他方面的疾病感兴趣。 8。与其他NIH机构的研究人员合作，我们正在评估听力，电子生理学功能和中央听觉处理表现，其中包括WAGR综合征（Han，NICHD博士），眼皮白化病（Adams，NHGRI，NHGRI），NHGRI博士，NHGRI博士，NEURFIBROMMOMPOMES，NEURFIBRomomis I型（Dr. Widemann，Ncyntdremann，nci），Dr。 Belluscio），以及1型和2型的神经节病（Tifft博士，NHGRI）。我们对听觉表型感兴趣，包括处理二分法和其他复杂声音，以及与疾病/障碍和基因型其他方面的关系。 9。与其他NIH机构的研究人员合作，听力学部门正在评估听力，电生理学功能，前庭功能和姿势平衡，患有2型神经纤维瘤病的人（Atthagiri和Lonser博士，Ninds）。 我们对这些评估的敏感性感兴趣，这些评估在对前庭schwannomas的早期检测和监测中，并在媒体上有一份出版物。 10。与其他NIH机构的调查人员合作，听力学部门正在评估听力和前庭funciton，并暴露于Breacher爆炸（Drs。Wassermanand Lopresti，Ninds）。 我们对重复暴露对听觉和前庭系统的影响感兴趣。 11。与其他NIH机构的调查人员合作，我们继续对参加听觉和/或前庭系统可能有风险的临床程序或疗法的人的听觉和/或前庭系统进行研究。 这些临床试验包括用于分枝杆菌感染的吸入和IV氨基糖苷（Holland博士和Olivier，Niaid），抗塑性铂化合物（博士NCI），经颅磁刺激（Hallett和Damiano博士，Ninds）和用于管理NF2的Bevacizumab（Widemann博士，NCI）。 我们对早期识别听觉/前庭功能障碍以及听觉和/或前庭功能障碍的管理/预防感兴趣。