Clinical Analysis of Disorders of Hearing and Balance

National Institute On Deafness And Other Communication Disorders

Investigators

Linked publications, trials & patents

Abstract

The Audiology Unit continued our protocol, Normative Values in Audiovestibular Testing. This protocol is used to establish normal reference ranges and 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, and subject characteristics (e.g., age, sex) on normal function, and are evaluating variability of auditory and vestibular measures over time. Our recent work targeting algorithms used to interpret postural stability is under review (Wafa et al., in submission). We are currently implementing a sub-study to define normal ranges and stability of otoacoustic emission measures and electrocochleography in support of work conducted Dr. Hoa (NIDCD, see below). We (Brewer & King, 2021) published an article discussing the audiologist perspective of genetic hearing loss. NIDCD collaborations include work with the following PIs: *Dr. Cunningham in her work examining the effect of statins in prevention of cisplatin ototoxicity. This includes a retrospective study (Fernandez et al., 2021) and a prospective clinical trial that is set to begin soon. *Dr. Hoa in development, design and implementation of his translational research protocol examining characteristics of fluctuating hearing loss. *Dr. Chien, in development, design and implementation of his longitudinal protocol examining the time course of hearing loss in patients/families with autosomal dominant non-syndromic hearing loss and in support of his development of a new protocol looking at functional balance problems experienced by persons with Usher syndrome. Trans-NIH Collaborations With Dr. Ferreira (NHGRI) we examined the auditory phenotype of patient with generalized arterial calcification of infancy and have published manuscript detailing this work (Theng, et al. 2022). With Drs. Williamson & Anjum (NIAID), we published a manuscript examining clinical benefits, including those involving the auditory system, of pulse-taper steroids in patients with non-HIV cryptococcal meningitis (Anjum et al., 2021) With Drs. Kramer (NCI) & Lehky (NINDS) we examined and have published our work on the relationship between sensorimotor neuropathies and auditory function in persons with xeroderma pigmentosum (Lehky et al. 2021). With Dr. Porter (NICHD), we continued participation in a natural history study of Niemann Pick type C disease. Additionally, we have worked with Dr. Porter to examine auditory function in patients with Smith-Lemli-Opitz syndrome (Zalewski et al., 2021). With Dr. Guerrerio (NIAID), we are studying auditory function in patients with Loeys Dietz syndrome. And published our work detailing the auditory and otologic phenotype (Jeon & Christensen et al., 2021). With Dr. Widemann (NCI), we conducted a detailed examination of auditory function in persons with neurofibromatosis type I (NF1) and currently have a manuscript under review (Idowu & Christensen, et al., in submission). With Drs. Friedman (NIDCD) & Zein (NEI), we studied hearing and balance function in persons with Usher syndrome. We were interested in postural balance skills and their relationship to vestibular and visual function, type of Usher syndrome, and genotype and published a manuscript on this work (Wafa et al. 2021) in addition to contributing to a paper on proposed therapy for Usher syndrome associated with protocadherin deficiency (Sethna et al. 2021). With investigators in NHLBI, NIAID and NCI, we continue comprehensive monitoring programs for persons participating in treatments and clinical trials in which there may be risk of ototoxicity. These include aminoglycoside antibiotics, platinum-based anti-neoplastic compounds, new agents and radiation therapy for brain tumors. We are preparing a manuscript on prevalence and risk factors for amikacin ototoxicity (Chisholm et al.) in collaboration with NHLBI investigators (Olivier & Fennelly). With Dr. Goldbach-Mansky (NIAMS), we continue auditory evaluation of patients with auto-inflammatory disorders, including neonatal onset auto-inflammatory disorder (NOMID). We have examined data at a 10-year time point post initiation of anakinra in patients with NOMID. A manuscript describing the longitudinal trajectory of hearing loss (Alehashemi et al.) is in preparation. With Drs. Heiss & Cantor (NINDS), we are examining auditory & vestibular function in persons with Chiari malformation and have a manuscript in preparation (Famili, Zalewski, et al.). With Dr. Venditti (NHGRI), we examined the auditory phenotype of persons with methylmalonic acidemia and are developing a manuscript (Zalewski et al.). Other Intramural Collaborations Associate investigator status on the following new protocols: *Dr. Stewart (NHGRI), Clinical, Genetic and Epidemiologic Study of Children and Adults with RASopathies. *Dr. Lisanby (NIMHS), Role of GABAergic transmission in auditory processing in Autism Spectrum Contributed to deep phenotyping protocols in natural history studies of hearing loss & vestibular function, and relationships to other aspects of diseases/disorders and genotype include: spinocerebellar ataxia type-7 (Huryn, NEI), Batten disease/CLN3 (Dang Do, NICHD), relapsing polychrondritis (Ferrada and Grayson, NIAMS), NF2 (Chittiboina, NINDS), congenital disorders of glycosylation (Wolfe, NHGRI), gangliosidosis types 1&2 (Tifft, NHGRI), GATA2 (Holland, NIAID), McCune Albright Syndrome (Boyce, NIDCR), osteogenesis imperfecta (Marini, NICHD), propionic acidemia (Venditti, NHGRI), and von Hippel-Lindau disease (Heiss, NINDS) Participated as members of a team examining multiple systems in persons who have experienced trauma of unknown origin (Chan, CC). Our contributions include deep auditory & vestibular phenotyping. Summaries of these findings have been presented to several government agencies and we are participating in preparation of a multi-disciplinary manuscript. We contributed to clinical characterization of auditory & vestibular function of patients in the Undiagnosed Diseases Program (Gahl, NHGRI) and provided supportive clinical evaluations to other protocols at NIH. Extramural Collaborations With Drs. Carr, Modica (Walter Reed) & Wasserman (NINDS), we examined and published findings on the effect of repeated breacher explosions on the auditory and vestibular systems (Modica et al. 2021). With Drs. Iannaccone (Duke), Duncan (UCSF) & Hufnagel (NEI), Dr. Brewer examined the audiometric phenotype of large group of patients with Usher syndrome type 2 caused by mutations in the USH2A gene (Iannaccone et al., 2021) and genotype-phenotype correlations in USH2A (Hufnagel et al., 2022) With Drs. Garinis (OHSU), Poling (Mayo), Steyger (Creighton), Konrad-Martin (VA) & others, Dr. Brewer published a manuscript providing guidelines for ototoxicity monitoring of patients with cystic fibrosis (Garinis et al, 2021). With Drs. LePrell (UT Dallas) & Campbell (SIU), Dr. Brewer co-authored a review article on the topic of the role of pure tone stimuli in clinical and research investigations (Le Prell et al., 2022)