Clinical Analysis Of Disorders Of Hearing And Balance

1.我们最近启动了一项新的方案，其中我们将建立听觉和前庭功能的各个方面的标准化功能(布鲁尔博士、扎列夫斯基先生和金博士)。这些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，用于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、测试范式的效果，以及非病理性受试者特征(如年龄、性别)对正常功能的影响，并评估受试者内部的变异性对听觉和前庭测量的影响。 2.听力学股与NIDCD的Griffith博士和Friedman博士以及(英格兰诺丁汉)听力研究所的Moore博士和Ferguson女士合作，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。这些测试是对参加一年一度的双胞胎节日的双胞胎进行的，以努力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，并正在将我们的研究扩展到非基于语音的技能的评估。 3.听力学股与分子生物学和遗传科合作，对听力损失和前庭导水管扩大的个人及其兄弟姐妹和父母进行听觉和前庭表型评估。目前已查明90多名先证者及其家人的身份。听力学单位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。我们在2011年为两份出版物做出了贡献。 4.听力学股与NIDCD的Friedman和Griffith博士以及NEI的Zein博士合作，继续评估Usher综合征患者的听力和平衡功能。我们感兴趣的是姿势平衡技能及其与前庭和视觉功能的关系、Usher综合征的类型以及这些技能随时间的发展。我们在2011年为两份出版物做出了贡献。 5.与弗里德曼博士(NIDCD)合作，我们回顾和分析了他在听力损失的分子遗传学研究中使用的外部设备的测听数据。我们在2011年为一份出版物做出了贡献。 6.我们与霍维茨博士(NIDCD)合作，在他的方案中对参与者进行了听觉评估，这些方案模拟了耳鸣和癫痫的中枢神经系统功能(我们在2011年发表了一篇论文)。 7.与其他NIH研究所的研究人员合作，我们继续评估Niemann Pick C型和Smith-Lemli Opitz综合征(Porter博士，NICHD)、新生儿发作性多系统炎症障碍、家族性冷自炎综合征和Muckle-Wells综合征(Goldbach-Mansky博士，NIAMS)(我们发表了两篇论文--一篇是在2011年发表的，另一篇是在2012年发表的)、Fanconi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代营养不良(Kraemer博士，NCI)、McCune-Albright综合征和多发性纤维结构不良症(Dr.Collins，NIDCR)，冯·希佩尔-林道病(Lonser，NINDS)。Smith-Magenis综合征(Smith女士，NHGRI)，Turner综合征(Bondy博士，NICHD)，成骨不全(Marini，NICHD)和Hutchinson-Progeria综合征(Gahl，NHGIR)(2011年发表)我们感兴趣的是听觉表型、听力自然史，以及与疾病/障碍和基因的其他方面的关系。 8.我们与其他NIH研究所的研究人员合作，正在评估WAGR综合征(韩博士，NICHD)、眼皮肤白化病(亚当斯博士，NHGRI)、I型神经纤维瘤病(Widemann，NCI博士)、抽动症(Hallett和Belluscio博士)以及神经节苷脂沉着症1和2型(Tifft博士，NHGRI)患者的听力、电生理听觉功能和中枢听觉处理表现。我们对听觉表型感兴趣，包括对二分音和其他复杂声音的处理，以及与疾病/障碍和基因的其他方面的关系。 9.听力科与国立卫生研究院其他研究所的研究人员合作，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)。我们对这些评估在早期发现和监测前庭神经鞘瘤中的敏感性很感兴趣，并在媒体上发表了一篇文章。 10.听力学股与国立卫生研究院其他研究所的研究人员合作，正在评估接触爆破器爆炸的人的听力和前庭功能(Wasserman博士和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.我们与其他NIH研究所的研究人员合作，继续实施和分析对参与临床程序或治疗的人的听觉和/或前庭系统的研究，在这些研究中，听觉和/或前庭系统可能处于危险之中。这些临床试验包括用于分枝杆菌感染的吸入性和IV氨基糖苷类药物(Holland和Olivier医生，NIAID)、抗肿瘤铂化合物(Widemann，Gramza、Hassan、NCI，Dr.)、免疫疗法(Rosenberg，NCI，2012年一篇发表)、脑肿瘤的放射治疗(Warren博士，NCI)、经颅磁刺激(Hallett和Damiano博士，NINDS)以及用于治疗NF2的贝伐单抗(Widemann博士，NCI)。我们感兴趣的是听力/前庭功能障碍的早期识别，以及听力和/或前庭功能障碍的管理/预防。

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.