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.

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Sibley, Cailin H; Chioato, Andrea; Felix, Sandra et al. (2015) A 24-month open-label study of canakinumab in neonatal-onset multisystem inflammatory disease. Ann Rheum Dis 74:1714-9
Chien, Wade Wei-De; Leiding, Jennifer W; Hsu, Amy P et al. (2014) Auditory and vestibular phenotypes associated with GATA3 mutation. Otol Neurotol 35:577-81
Holliday, Michael A; Kim, Hung Jeffrey; Zalewski, Christopher K et al. (2014) Audiovestibular Characteristics of Small Cochleovestibular Schwannomas in Neurofibromatosis Type 2. Otolaryngol Head Neck Surg 151:117-124
King, Kelly A; Gordon-Salant, Sandra; Yanjanin, Nicole et al. (2014) Auditory phenotype of Niemann-Pick disease, type C1. Ear Hear 35:110-7
Olivier, Kenneth N; Shaw, Pamela A; Glaser, Tanya S et al. (2014) Inhaled amikacin for treatment of refractory pulmonary nontuberculous mycobacterial disease. Ann Am Thorac Soc 11:30-5
King, Kelly A; Gordon-Salant, Sandra; Pawlowski, Karen S et al. (2014) Hearing loss is an early consequence of Npc1 gene deletion in the mouse model of Niemann-Pick disease, type C. J Assoc Res Otolaryngol 15:529-41
Spinner, Michael A; Sanchez, Lauren A; Hsu, Amy P et al. (2014) GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood 123:809-21
Boyce, Alison M; Glover, McKinley; Kelly, Marilyn H et al. (2013) Optic neuropathy in McCune-Albright syndrome: effects of early diagnosis and treatment of growth hormone excess. J Clin Endocrinol Metab 98:E126-34
Tan, Xiaohui; Anzick, Sarah L; Khan, Sikandar G et al. (2013) Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency. Hum Mutat 34:1250-9
Kim, H Jeffrey; Hagan, Marygrace; Butman, John A et al. (2013) Surgical resection of endolymphatic sac tumors in von Hippel-Lindau disease: findings, results, and indications. Laryngoscope 123:477-83

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