Clinical Analysis Of Disorders Of Hearing And Balance

听力和平衡障碍的临床分析

• 批准号: 7966985
• 负责人: Carmen Crowell Brewer
• 金额: $ 55.76万
• 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/7966985
• 关键词: Acoustic Neuroma; Affect; Audiology; Auditory; Brain Neoplasms; Clinical; Clinical Research; Clinical Trials; Collaborations; Complex; Data Collection; Diagnostic; Disease; Ear Diseases; Early Diagnosis; Early identification; England; Equilibrium; Evaluation; Familial amyloid nephropathy with urticaria and deafness; Familial disease; Family; Fanconi' s Anemia; Festival; Functional disorder; Genetic; Genotype; Head and neck structure; Hearing; Hearing problem; Heritability; Immunotherapy; Individual; Inflammatory; Inherited; Institutes; International; Magnetic Resonance Imaging; Manuscripts; McCune-Albright Syndrome; Modality; Molecular Biology; Monitor; Musculoskeletal Equilibrium; National Human Genome Research Institute; 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; Oculocutaneous Albinism; Osteogenesis Imperfecta; Otolaryngology; Pancytopenia; Parents; Persons; Phenotype; Polyostotic fibrous dysplasia; Preparation; Prevention; Principal Investigator; Process; Radiation therapy; Research; Research Design; Research Personnel; Risk; Sensory; Series; Siblings; Smith Magenis syndrome; Smith-Lemli-Opitz Syndrome; Speech; Syndrome; System; Testing; Time; Transcranial magnetic stimulation; Twin Multiple Birth; United States National Institutes of Health; Urticaria; Usher Syndrome; Vestibular Aqueduct; Vision; Von Hippel-Lindau Syndrome; WAGR Syndrome; Xeroderma Pigmentosum; base; clinical Diagnosis; hearing impairment; interest; meetings; melanoma; outcome forecast; posters; proband; research clinical testing; research study; skills; sound

1. 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. 2. 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 evaluatie details of the auditory phenotype to search for features that predict genotype, clinical prognosis, or clinical diagnosis.

 3. In collaboration with Drs Friedman and Griffith of the NIDCD and Dr Tsilou 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. 4. In collaboration with investigators from other NIH institutes, we continue to evaluate auditory manifestations in neurofibromatosis type I (Widemann, NCI), Niemann Pick type C and Smith-Lemli Opitz Syndrome (Dr. Porter, NICHD), neonatal onset multi-system inflammatory disorder, familial cold urticaria, and Muckle-Wells syndrome (Dr. Goldbach-Mansky, NIAMS), Fanconi anemia and other inherited bone marrow failure syndromes (Dr. Alter, NCI), xeroderma pigmentosum (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) and osteogenesis imperfecta (Marini, NICHD). We are interested in the auditory phenotype, natural history of hearing, and relationships to other aspects of disease/disorder and genotype. 5. 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) and holoproencephaly (Dr. Muenke, 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. 6. . 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. 7. 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 trials in which the auditory and/or vestibular system may be at risk. These clinical trials include immunotherapy for melanoma (Dr. Rosenberg, NCI) and radiation therapy for brain tumors (Dr. Warren, NCI). We are interested in early identification of auditory/vestibular dysfunction, and management/prevention of auditory and/or vestibular dysfunction.

1。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。 2。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。

 3。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。 4。与其他NIH机构的研究人员合作，我们继续评估I型神经纤维瘤病（Widemann，NCI），Niemann Pick C型和Smith-Lemli Opitz综合征（Porter，NICHD，NICHD），新生儿新生儿疾病炎症性疾病，家族性尿液和混合群（Mickey nictery）（Mickem nikemanty）（Morcuckemany），Muckey-troticalsy（Mickey nichersy），niemann Pick型和Smith-Lemli Opitz综合征（Porter，NICHD博士），继续评估听觉表现。 NIAMS），Fanconi贫血和其他遗传的骨髓衰竭综合征（Dr. Alter，NCI），Xeroderma cipmentosum（Kraemer，NCI），McCune-Albright综合征和多层纤维化纤维纤维增生性（Collins，NIDCR），NIDCR），Hippel-Lindau病（Von Hippel-lindau病）（NIDCR博士）。 Smith-Magenis综合征（史密斯女士，NHGRI）和成骨（Marini，NICHD）。 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。 5。与其他NIH机构的调查人员合作，我们正在评估听力，电子生理听觉功能以及中央听觉处理表现，其中包括WAGR综合征（Han，NICHD博士），眼皮白化病（Adams，NHGRI）和Holoproencephaly（Muenke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。 6。与其他NIH机构的研究人员合作，听力学部门正在评估听力，电生理听觉功能，前庭功能和姿势平衡，患有2型神经纤维瘤病的人（Atthagiri和Lonser，Ninds）。 我们对这些评估的敏感性感兴趣，这些评估在早期检测和监测前庭schwannomas中感兴趣。 7。与其他NIH机构的调查人员合作，我们继续对参加听觉和/或前庭系统可能面临风险的临床试验的人的听觉和/或前庭系统进行研究和分析。 这些临床试验包括黑色素瘤的免疫疗法（Rosenberg博士，NCI）和脑肿瘤的放射治疗（Warren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。