Clinical Analysis Of Disorders Of Hearing And Balance

1.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。 2.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。 3.听力学股与NIDCD的Friedman和Griffith博士以及NEI的Tsilou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。 4.与其他NIH研究所的研究人员合作，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)、新生儿起病的多系统炎症障碍、家族性寒冷性荨麻疹和Muckle-Wells综合征(Goldbach-Mansky，NIAMS)、Fanconi贫血和其他遗传性骨髓衰竭综合征(Dr.Alter，NCI)、色素性干皮病(Dr.Kraemer，NCI)、McCune-Albright综合征和多发性骨纤维发育不良症(Dr.Collins，NIDCR)、von Hippel-Lindau综合征(Lonser，NINDS)的听觉表现。Smith-Magenis综合征(Smith女士，NHGRI)和成骨不全(Marini，NICHD)。我们感兴趣的是听觉表型、听力的自然病史，以及与疾病/障碍和基因的其他方面的关系。 5.与其他NIH研究所的研究人员合作，我们正在评估WAGR综合征(韩博士，NICHD)、眼皮肤白化病(亚当斯博士，NHGRI)和全前脑畸形(Muenke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。 6.听力科与其他NIH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)。我们感兴趣的是这些评估在早期发现和监测前庭神经鞘瘤方面的敏感性。 7.与其他NIH研究所的研究人员合作，我们继续实施和分析对参与临床试验的人的听觉和/或前庭系统的研究，在这些临床试验中，听觉和/或前庭系统可能处于危险之中。这些临床试验包括黑色素瘤的免疫疗法(Rosenberg博士，NCI)和脑瘤的放射治疗(Warren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. 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.