Clinical Analysis Of Disorders Of Hearing And Balance

听力和平衡障碍的临床分析

• 批准号: 8939469
• 负责人: Carmen Crowell Brewer
• 金额: $ 115.34万
• 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/8939469
• 关键词: Acoustic Neuroma; Affect; Age; Alstrom syndrome; Amikacin; Aminoglycosides; Annual Reports; Antineoplastic Agents; Area; Audiology; Auditory; Brain Neoplasms; Breathing; Characteristics; Child; Clinical; Clinical Protocols; Clinical Research; Collaborations; Collection; Coloboma; Complex; Congenital Disorders; Data; Data Analyses; Data Collection; Data Set; Development; Diagnostic; Disease; Ear Diseases; Early Diagnosis; Effectiveness; Equilibrium; Equipment; Evaluation; Evoked Potentials; Explosion; Exposure to; Familial amyloid nephropathy with urticaria and deafness; Familial disease; Family; Fanconi' s Anemia; Festival; Gangliosidoses; Gender; Genotype; Head and neck structure; Hearing; Heritability; Hospitals; Human; Individual; Inflammatory; Inherited; Institutes; International; Intervention; Laboratories; Lung; Magnetic Resonance Imaging; Manuscripts; McCune-Albright Syndrome; Measures; Methodology; Modality; 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 1; Neurofibromatosis 2; Newsletter; Oculocutaneous Albinism; Osteogenesis Imperfecta; Otolaryngology; Pancytopenia; Paper; Parents; Participant; Patients; Performance; Persons; Pharmaceutical Preparations; Pharmacotherapy; Phase I Clinical Trials; Phenotype; Polyostotic fibrous dysplasia; Preparation; Principal Investigator; Procedures; Process; Protocols documentation; Publications; Publishing; Radiation therapy; Reference Values; Refractory; Registries; Research; Research Design; Research Personnel; Risk; Role; Safety; Sensory; Series; Siblings; Smith Magenis syndrome; Societies; Speech; Stimulus; Stuttering; Syndrome; System; Temporal bone structure; Test Result; Testing; Time; Transcranial magnetic stimulation; Trichothiodystrophy; Twin Multiple Birth; United States National Institutes of Health; Usher Syndrome; Variant; Vestibular Aqueduct; Vision; Von Hippel-Lindau Syndrome; Work; Writing; Xeroderma Pigmentosum; Y Chromosome; Zein; base; clinical Diagnosis; falls; glycosylation; hearing impairment; hydroxypropyl-beta-cyclodextrin; improved; interest; meetings; mouse model; mycobacterial; otoconia; ototoxicity; ototoxin; outcome forecast; posters; proband; programs; research clinical testing; research study; skills; sound

1. We have completed our second year of acquisition of normative data for various aspects of auditory and vestibular function. This data will serve as reference ranges 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. To date we have focused on the development of normative data for tests evaluating otolith function and have made two presentations at professional society meetings on this topic (Zalewski et al. 2014). 2. In collaboration with Drs. Griffith and Friedman (NIDCD), Dr. Moore (Cincinnati Childrens Hospital), and Dr. Zobay (Institute for Hearing Research, UK) we are analyzing data from a series of non-speech tests developed to evaluate sensory/temporal aspects of auditory processing. These tests were 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 this work extends our research to evaluation of non-speech based skills. We have two manuscripts in preparation. 3. In collaboration with the Molecular Biology and Genetics section (Dr Griffith), 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 vestibular and auditory phenotype to search for features that predict genotype, clinical prognosis, or clinical diagnosis. We contributed to two manuscripts since that last annual report (Chattaraj et al. Sept 2013, and Chien et al, submitted). 4. In collaboration with Drs. Friedman and Griffith of the NIDCD and Dr. Zein (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 have contributed to one manuscript in 2014 (Zein et al., in submission) and presented a poster at the NIH Research Festival in October 2013 (Wafa et al.). 5. In collaboration with Dr. Drayna (NIDCD), we have prepared an auditory test protocol to investigate a group of participants with stuttering. 6. In collaboration with Dr. Cunningham (NIDCD), we initiated development of a test protocol to document the effectiveness of an otoprotective methodology for patients receiving ototoxic medications. 7. In collaboration with Dr. Forbes D. Porter (NICHD), we participated in a phase 1 trial of Hydroxypropyl beta cyclodextrin for treatment of Neimann Pick Type C (NPC) disease. Our roles include monitoring and grading of auditory function, participation on the safety committee, and participation in the NIH/NCATS NPC Ototoxicity Meeting and other discussions regarding this treatment. Additionally, we published two papers on the auditory phenotype of NPC, one in the mouse model (King et al., 2014) and one in humans (King et al., 2014). 8. In collaboration with Dr. Raphaela Goldbach-Mansky (NIAMS) we continued evaluation of auditory manifestations of neonatal onset multi-system inflammatory disorder (NOMID), familial cold auto-inflammatory syndrome, and Muckle-Wells syndrome and the effectiveness of several drug therapies. This work resulted in one publication in the past year (Sibley et al., 2014). 9. In collaboration with Dr. Brian Brooks (NEI) we evaluated auditory function in persons with coloboma. This work has contributed to one manuscript (Huynh et al., Dec 2013). I0. In collaboration with Dr. Stephen Holland, (NIAID) we collected research data and contributed to manuscripts evaluating the auditory phenotypes of GATA2 (Spinner et al., 2014) and the auditory and vestibular phenotypes of GATA3 (Chien et al., 2014). 11. In collaboration with Drs. Kenneth Olivier and Stephen Holland (NIAID) we conducted auditory evaluations and contributed to a manuscript on the use of inhaled amikacin for refractory pulmonary nontuberculosis mycobacterial disease (Olivier et al, 2014). 13. In collaboration with Dr. Meral Gunay-Aygun (NHGRI) we evaluated auditory function, including evoked potentials, in patients with Alstrom syndrome and presented a poster on this topic at a professional society meeting (Brewer et al. 2014). 14. In collaboration with Dr. Charles Venditti (NHGRI) we evaluated and analyzed the natural history of auditory function in patients with methylmelonic acidemia. This resulted in a poster presentation (Nast et al., 2014) at a professional society meeting. 15. In collaboration with investigators from other NIH institutes, we are evaluating hearing, electrophysiologic auditory function, and central auditory processing manifestations in persons oculocutaneous albinism (Dr. Adams, NHGRI), neurofibromatosis type I (Dr. Widemann, NCI), Congenital Disorders of Glycosylation (Dr. Gahl, NHGRI), 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. We presented a poster at professional society meeting on the topic of GM1 (King et al. 2014). 16. In collaboration with Dr. Heiss (NINDS), we are evaluating hearing, electrophysiologic auditory function, vestibular function, and postural balance in persons with neurofibromatosis type 2. We are interested in sensitivity of these assessments in early detection and monitoring of vestibular schwannomas. This work resulted in a publication during 2014 (Holliday et al.). 17. We continue to evaluate natural history of auditory function in persons with Fanconi anemia and other inherited bone marrow failure syndromes (IBMFS) (Dr. Alter, NCI), McCune-Albright syndrome and polyostotic fibrous dysplasia (Dr. M. Collins, NIDCR), von Hippel-Lindau disease (Lonser, NINDS), Smith-Magenis syndrome (Ms. Smith, NHGRI), WHIMS (Dr. McDermott, NIAID), osteogenesis imperfecta (Dr. Marini, NICHD), Y-Chromosome variants (Dr. Muenke, NHGRI), xeroderma pigmentosum and trichothiodystrophy (Drs. Kraemer and Digiovanna) and the Undiagnosed Diseases Program (Dr. Gahl, NHGRI). We are interested in the auditory phenotype, natural history of hearing, and relationships to other aspects of disease/disorder and genotype. We wrote a newsletter article (Temporal Bone Registry Newsletter) on the otopathology of xeroderma pigmentosum published in Fall 2013. 18. In collaboration with investigators from other NIH institutes, we are evaluating hearing and vestibular function 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. 19. 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 these systems may be at risk. These include aminoglycosides for mycobacterium infections (Drs. Holland and Olivier), antineoplastic compounds (Drs. Gramsa and Hassan, NCI), radiation therapy for brain tumors (Dr. Warren), and transcranial magnetic stimulation (Drs. Hallett and Damiano, NINDS).

1。我们已经完成了对听觉和前庭功能各个方面的规范数据的第二年。 该数据将用作正常性能的参考范围，通过该范围可以将测试结果解释为正常或异常，并将用作控制数据，以便与我们的协作研究中各个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。 迄今为止，我们专注于开发评估耳石功能的测试的规范数据，并在专业社会会议上就此主题进行了两次演讲（Zalewski等，2014）。 2。与Drs合作。 Griffith和Friedman（NIDCD），摩尔博士（辛辛那提儿童医院）和Zobay博士（英国听力研究所），我们正在分析从一系列非语音测试中分析用于评估听觉处理的感觉/时间方面的数据。 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，这项工作将我们的研究扩展到了基于非语音的技能的评估。 我们有两个手稿准备。 3。与分子生物学和遗传学部分（Griffith博士）合作，听力学部门对听力损失和前庭渡槽扩大的个体（EVA）以及其兄弟姐妹和父母进行了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前庭和听觉表型的细节，以寻找预测基因型，临床预后或临床诊断的特征。自上次年度报告以来，我们为两项手稿做出了贡献（Chattaraj等，2013年9月，Chien等人，提交了）。 4。与Drs合作。 NIDCD的Friedman和Griffith和Zein博士（NEI），听力学部门继续评估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2014年为一份手稿做出了贡献（Zein等人，提交），并在2013年10月的NIH研究节上介绍了一张海报（Wafa等人）。 5。与Drayna博士（NIDCD）合作，我们准备了一项听觉测试协议，以调查一群口吃的参与者。 6。与Cunningham博士（NIDCD）合作，我们启动了测试方案的开发，以记录对接受耳毒性药物的患者的耳状保护方法的有效性。 7。与Forbes D. Porter博士（NICHD）合作，我们参加了羟丙基β环糊精的1期试验，以治疗Neimann Pick型C型（NPC）疾病。 我们的角色包括监视和评分听觉功能，参加安全委员会的参与以​​及参加NIH/NCATS NPC NPC耳毒性会议以及有关此治疗方法的其他讨论。 此外，我们发表了两篇关于NPC听觉表型的论文，其中一篇是小鼠模型（King等，2014），另一篇是人类（King等，2014）。 8。与Raphaela Goldbach-Mansky博士（NIAMS）合作，我们继续评估新生儿发作多系统炎症障碍（NOMID），家族性冷自动炎症综合征和Muckle-Wells综合征的听觉表现形式以及几种药物治疗的有效性。 这项工作在过去一年中导致了一份出版物（Sibley等，2014）。 9。与Brian Brooks博士（NEI）合作，我们评估了Coloboma患者的听觉功能。 这项工作促成了一份手稿（Huynh等，2013年12月）。 I0。 与斯蒂芬·荷兰（Stephen Holland）博士（NIAID）合作，我们收集了研究数据，并有助于评估GATA2的听觉表型（Spinner等，2014）以及GATA3的听觉和前庭表型（Chien等，2014）。 11。与Drs合作。肯尼斯·奥利维尔（Kenneth Olivier）和斯蒂芬·霍兰德（Stephen Holland）（NIAID）我们进行了听觉评估，并为使用吸入的amikacin用于难治性肺化结核病分生不清分生不而要疾病的手稿做出了贡献（Olivier等人，2014年）。 13。与Meral Gunay-Aygun博士（NHGRI）合作，我们评估了Alstrom综合征患者的听觉功能，包括诱发潜力，并在专业社会会议上介绍了有关此主题的海报（Brewer等人，2014年）。 14。与Charles Venditti博士（NHGRI）合作，我们评估并分析了甲基硅酸盐酸血症患者的听觉功能的自然历史。 这导致了在专业社会会议上的海报演示（Nast等，2014）。 15。与其他NIH机构的研究者合作，我们正在评估听力，电生理学听觉功能和中央听觉处理表现，以眼态白化病（Adams，NHGri博士），神经纤维瘤病，I型神经纤维瘤病（Widemann，Nci，Nci），糖糖基化型（gahioios nit）（ghiios n and）（gandemant）（gandemant）。 2（NHGRI TIFFT博士）。 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。我们在专业协会会议上介绍了有关GM1主题的海报（King等，2014）。 16.与Heiss博士（Ninds）合作，我们正在评估听力，电生理学听觉功能，前庭功能和2型神经纤维瘤病患者的姿势平衡。我们对早期检测和监测前庭schwannomas对这些评估的敏感性感兴趣。 这项工作导致了2014年的出版物（Holliday等人）。 17。我们继续评估富康尼贫血和其他继承的骨髓衰竭综合征（IBMFS）（Alter，NCI博士），McCune-Albright综合征和多层纤维化纤维增生不良的人（IBMFS）（IBMFS）（IBMFS）（IBMFS）（M. Collins，NIDCR），hippel-lindsau病（lonsningsnsnersymersys，m。 Smith, NHGRI), WHIMS (Dr. McDermott, NIAID), osteogenesis imperfecta (Dr. Marini, NICHD), Y-Chromosome variants (Dr. Muenke, NHGRI), xeroderma pigmentosum and trichothiodystrophy (Drs. Kraemer and Digiovanna) and the Undiagnosed Diseases Program (Dr. Gahl, NHGRI）。 我们对听觉表型，自然史以及与疾病/混乱和基因型其他方面的关系感兴趣。我们撰写了一篇新闻通讯文章（颞骨注册式通讯），介绍了2013年秋季发表的Xeroderma色素病理学。 18。与其他NIH机构的调查人员合作，我们正在评估暴露于Breacher爆炸的人的听力和前庭功能（Wasserman和Lopresti，Ninds）。 我们对重复暴露对听觉和前庭系统的影响感兴趣。 19。与其他NIH机构的调查人员合作，我们继续实施和分析参与临床程序或这些系统可能面临风险的临床程序或疗法的人的听觉和/或前庭系统的研究。 其中包括用于分枝杆菌感染的氨基糖苷（荷兰和奥利维尔博士），抗肿瘤化合物（Gramsa和HassanDr。gramsa和Hassan，NCI），脑肿瘤放射治疗（Warren博士）和经颅磁刺激（Drs。Hallett和Damiano，Ninds，Ninds）。