1. We continued our protocol designed to develop normative data for various aspects of auditory and vestibular function. This data is used to establish normal reference ranges for test interpretation and as control data for comparison to results obtained for various patient groups in our collaborative research endeavors. We are also examining the effects of various methodologies, stimulus characteristics, test equipment, and subject characteristics (e.g., age, sex) on normal function, and are evaluating variability of auditory and vestibular measures over time. To date we have focused on the development of normative and comparative data for tests of otolith function and recently published this work (Zalewski et al. 2018). 2. In collaboration with other NIH investigators (NHLBI, NIAID and NCI) we continue our comprehensive monitoring program for persons participating in clinical trials in which there may be risk of ototoxicity. These include aminoglycosides, antineoplastic compounds, and radiation therapy for brain tumors. In concert with our focus on ototoxicity, we published an article (Brewer & King, 2018) on ototoxicity grading scales, and co-edited (Brewer & Boudin) a special edition of the International J. of Audiology devoted to the topic of clinical ototoxicity monitoring; this edition is scheduled for publication before the end of 2018. 3. We designed and completed a test protocol to determine the stability of the auditory nerve action potential and otoacoustic emissions over time in a group of healthy volunteers. The goals were to determine feasibility of these physiologic measures as markers of damage to the auditory system from noise or ototoxic agents (scientific poster in 2017 and manuscript in preparation) and to determine hearing safety following prolonged exposure to MRI noise while using hearing protection in support of research being conducted by Drs. Duyn & Picchioni (NINDS). We contributed to a manuscript that includes hearing safety data (Picchioni et al., in revision). 4. In collaboration with Dr. Griffith (NIDCD), we continued auditory and vestibular phenotypic assessments of individuals with enlarged vestibular aqueducts (EVA) as well as their siblings and parents. To date, over 100 probands and their families have been ascertained. We are co-authors on a submitted manuscript examining the influence of the SLC26A4 haplotype on the phenotype of persons with EVA (Chao et al., in submission). 5. In collaboration with Dr. Griffith (NIDCD), we evaluated auditory function in 2 families with NLRP3 mutations and examined the effects of interleukin-1 beta blockade therapy on hearing acuity. Publications include Nakanishi et al., 2017and 2018. 6. In collaboration with Dr. Porter (NICHD), we participated in phase 2/3a-c trials of hydroxypropyl beta cyclodextrin for treatment of Niemann Pick type C disease. Our roles included auditory monitoring, ototoxicity grading, and reporting to FDA and safety monitors. We are co-authors on a manuscript published in October 2017 (Ory et al., 2017). We continue participation in this study. 7. In collaboration with Dr. Chittiboina (NINDS), we are investigating auditory and vestibular function in persons with neurofibromatosis type 2. We published a manuscript examining progression of hearing loss in relation to tumor size and sensitivity of auditory assessments in early detection of tumor growth (deTorres et al., 2018) and have another manuscript examining electrophysiologic measures of auditory function in preparation. The long-term goal of this work is to better understand the relative timing of clinical versus anatomical change in persons with small tumors. 8. In collaboration with Drs. Boyce & Collins (NIDCR) we have completed an in-depth analysis of hearing and middle ear function as well as otology and imaging findings in persons with McCune Albright Syndrome; this work was published in 2018 (Boyce et al.). 9. In collaboration with Dr. Williamson (NIAID), we have evaluated and characterized auditory function in a group of previously healthy patients with cryptococcal meningitis (King et al., in submission). 10. In collaboration with (Porter, NICHD) we have examined auditory function in patients with Smith-Lemli-Opitz syndrome. A manuscript is in preparation with plans for submission in 2019. 11. We are conducting a detailed cross-sectional and longitudinal examination of auditory function in persons with neurofibromatosis type I (NF1) (Widemann, NCI). This work will be presented at the American Speech-Language-Hearing Association meeting in November 2018 (Idowu et al.) with plans to develop a manuscript this upcoming year. 12. In collaboration with Dr. McDermott (NIAID), we analyzed auditory function in persons with WHIM syndrome, and will present this work at the AA0-HNS meeting in October 2018 (Rieger et al.). 13. In collaboration with Drs. Friedman & Griffith (NIDCD) and Dr. Zein (NEI), we continue to study hearing 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, genotype, and the progression/decline of these skills over time. We have one manuscript in preparation that details comprehensive balance function in the three types of Usher syndrome. 14. In collaboration with Dr. Goldbach-Mansky (NIAMS) we continue auditory evaluation of patients with autoinflammatory disorders, including Muckle Wells syndrome and neonatal onset autoinflammatory disorder (NOMID). We are nearing completion of data gathering at a 10-year timepoint post initiation of treatment with anakinra in a large group of patients with NOMID and have plans for manuscript development in the upcoming year. 15. We are examining auditory and vestibular function in patients who have experienced repeated breacher explosions (Wasserman & LoPresti, NINDS), traumatic brain injury (Chan, CC), Moebius syndrome (Manoli, NHGIR), spinocerebellar ataxia (SCA7) (Huryn, NEI) and Chiari malformation (Heiss & Cantor, NINDS). 16. In collaboration with other NIH investigators, we are establishing the auditory phenotype and/or monitoring longitudinal progression in persons with congenital disorders of glycosylation (Wolfe & Gahl, NHGRI), gangliosidosis types 1 and 2 (Tifft, NHGRI), GATA2 (Holland, NIAID), hypogonadotropic hypogonadism (Freedman-Delaney, NICHD), Loeys Dietz syndrome (Guerrerio, NIAID), oculocutaneous albinism (Adams, NHGRI), osteogenesis imperfecta (Marini, NICHD), propionic and methylmalonic acidemia (Venditti, NHGRI), relapsing polychrondritis (Colbert, NIAID), sex-chromosome variants (Muenke, NHGRI), von Hippel-Lindau disease (Heiss, NINDS), and xeroderma pigmentosum (Kraemer & Digiovanna, NCI). We are interested in the auditory phenotype, including auditory processing of complex sounds, natural history of auditory manifestations, and relationships to other aspects of the disease/disorder and genotype. 17. We contribute to the clinical characterization of auditory function, as indicated by presentation, of participants in the Undiagnosed Diseases Program (Gahl, NHGRI) and patients participating in multiple other protocols at the NIH Clinical Center.
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