Clinical Analysis Of Disorders Of Hearing And Balance

听力和平衡障碍的临床分析

• 批准号: 8745657
• 负责人: Carmen Crowell Brewer
• 金额: $ 98.27万
• 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/8745657
• 关键词: Acoustic Neuroma; Affect; Age; Aminoglycosides; Antineoplastic Agents; Audiology; Auditory; Brain Neoplasms; Breathing; Characteristics; Child; Clinical; Clinical Research; Clinical Trials; Collaborations; Coloboma; Complex; Data; Data Analyses; Data Collection; Development; Diagnostic; Disease; Ear Diseases; Early Diagnosis; Early identification; 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; Hospitals; 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; NF1 gene; 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; Reference Values; Research; Research Design; Research Personnel; Risk; Sensory; Series; Siblings; Smith Magenis syndrome; Smith-Lemli-Opitz Syndrome; Speech; Stimulus; Syndrome; System; Test Result; Testing; Time; 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; Work; Xeroderma Pigmentosum; Zein; base; bevacizumab; clinical Diagnosis; hearing impairment; interest; meetings; member; otoconia; outcome forecast; posters; proband; programs; research clinical testing; research study; skills; sound

1. We have completed or first year of acquisition of normative data for various aspects of auditory and vestibular function (Dr. Brewer, Mr. Zalewski, and Dr. King). 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. 2. In collaboration with Drs. Griffith and Friedman of the NIDCD, and Dr. Moore of Cincinnati Childrens Hospital, the Audiology Unit is 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. 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 one publication in 2013. 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. 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. 6. In collaboration with Dr. Horwitz (NIDCD), we have provided auditory assessments of participants in his protocols modeling CNS function. 7. In collaboration with Dr. Forbes D. Porter (NICHD), we have evaluated auditory function in Niemann Pick C-1. This work has contributed to one publication (in press) in 2013, and an additional submission that is currently under review. 8. In collaboration with Dr. Kenneth Kraemer (NCI) and the members of his lab, we have evaluated auditory function of persons with Xerodema Pigmentosum and Trichothiodsytrophy. This work has contributed to three publications in 2013. 9. In collaboration with Dr. Brian Brooks (NEI) we have evaluated auditory function in persons with coloboma. This work has contributed to one manuscript (in submission in 2013). 10. 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 (NOMID), familial cold autoinflammatory syndrome, and Muckle-Wells syndrome (Dr. Goldbach-Mansky, NIAMS, Fanconi anemia and other inherited bone marrow failure syndromes (IBMFS) (Dr. Alter, NCI), xeroderma pigmentosum and trichothiodystrophy (Dr. Kraemer, NCI), McCune-Albright syndrome and polyostotic fibrous dysplasia (Dr. M. Collins, NIDCR), von Hippel-Lindau disease (Lonser, NINDS), Smith-Magenis syndrome (Ms. Smith, NHGRI), Turner syndrome (Dr. Bondy, NICHD), osteogenesis imperfecta (Dr. Marini, NICHD), GATA2 and GATA3 (Dr. Holland, NIAID), and Hutchinson-Progeria syndrome and the Undiagnosed Diseases Program (Dr. Gahl, NHGIR). We are interested in the auditory phenotype, natural history of hearing, and relationships to other aspects of disease/disorder and genotype. We contributed to one publication regarding NOMID in 2012, one regarding MAS in 2013, and another regarding VHL 2013. We have a publication in press for GATA3. We also contributed to a poster on IBMFS in 2013. 11. 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. We presented posters at professional meetings on the topics of WAGR syndrome and NF1 in 2013. 12. 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. Germanwala, Heiss, Asthagiri and Lonser, NINDS). We are interested in sensitivity of these assessments in early detection and monitoring of vestibular schwannomas. This work resulted on one publication in 2012 and presentation of two posters at professional meetings in 2013. 13. In collaboration with investigators from other NIH institutes, the Audiology Unit is 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. 14. 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. 我们已经完成了对听觉和前庭功能各个方面的规范性数据的第一年采集（Brewer博士、Zalewski先生和King博士）。该数据将作为正常表现的参考范围，据此检测结果可以解释为正常或异常，并将作为对照数据，用于与我们合作研究中不同患者组的数据进行比较。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（如年龄、性别）对正常功能的影响，并评估受试者听觉和前庭测量的内部变异性。迄今为止，我们一直专注于开发用于评估耳石功能测试的规范数据。