The hearing section has recently published the results of a detailed clinical characterization of hearing and balance dysfunction in a large series of patients with Stickler syndrome and Marshall syndrome. These syndromes are phenotypically similar disorders of connective tissue that are caused by mutations in genes encoding fibrillar collagens. Hearing loss is a common feature of these disorders, and our work provided a detailed description of the hearing loss associated with these disorders, as well as a demonstration of a correlation between the degree and progression of sensorineural hearing loss with the underlying fibrillar collagen genotype. Another recent accomplishment was the publication of audiologic monitoring guidelines for ototoxicity associated with the use of cancer chemoprevention agents. A major focus of the hearing section has continued to be the characterization of hereditary disorders primarily affecting hearing and balance. The hearing section has now evaluated over 2 dozen individuals with hearing loss associated with enlargement of the endolymphatic system of the inner ear. A manuscript has been written describing the auditory manifestations of observed in patients treated for Lyme disease. Such patients often experience nonspecific auditory symptoms, and a variety of nonspecific audiologic findings, the most prominent of which appears to be a reduction in loudness discomfort level. The hearing section continues to evaluate patients with Smith-Magenis syndrome, Von Hippel-Landau disease, Pallister-Hall syndrome, and Greig Cephalopolysyndactyly syndrome as part of ongoing collaborative studies of the otolaryngologic and audiologic manifestations of these heritable disorders. Finally, Ms. Mastroianni has accrued several dozen patients and volunteers for her study of the efferent auditory system in children with attention deficit disorders. This study utilizes suppression of otoacoustic emissions to examine efferent auditory function in these subjects. The data are currently being analyzed to determine if efferent auditory activity is abnormal in the experimental group.

Agency
National Institute of Health (NIH)
Institute
National Institute on Deafness and Other Communication Disorders (NIDCD)
Type
Intramural Research (Z01)
Project #
1Z01DC000064-01
Application #
6535295
Study Section
Health Services Research Initial Review Group (HS)
Project Start
Project End
Budget Start
Budget End
Support Year
1
Fiscal Year
2001
Total Cost
Indirect Cost
Name
Deafness & Other Communication Disorders
Department
Type
DUNS #
City
State
Country
United States
Zip Code
King, Kelly A; Brewer, Carmen C (2018) Clinical trials, ototoxicity grading scales and the audiologist's role in therapeutic decision making. Int J Audiol 57:S89-S98
Nakanishi, Hiroshi; Kawashima, Yoshiyuki; Kurima, Kiyoto et al. (2018) Gradual Symmetric Progression of DFNA34 Hearing Loss Caused by an NLRP3 Mutation and Cochlear Autoinflammation. Otol Neurotol 39:e181-e185
Rose, Jane; Muskett, Julie A; King, Kelly A et al. (2017) Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4. Laryngoscope 127:E238-E243
Lindsey, Spencer; Brewer, Carmen; Stakhovskaya, Olga et al. (2017) Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients. Am J Med Genet A 173:2210-2218
Nakanishi, Hiroshi; Kawashima, Yoshiyuki; Kurima, Kiyoto et al. (2017) NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy. Proc Natl Acad Sci U S A 114:E7766-E7775
Muskett, Julie A; Chattaraj, Parna; Heneghan, John F et al. (2016) Atypical patterns of segregation of familial enlargement of the vestibular aqueduct. Laryngoscope 126:E240-7
Brewer, Carmen C; Zalewski, Christopher K; King, Kelly A et al. (2016) Heritability of non-speech auditory processing skills. Eur J Hum Genet 24:1137-44
Ito, Taku; Muskett, Julie; Chattaraj, Parna et al. (2013) SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct. World J Otorhinolaryngol 3:26-34
Chattaraj, Parna; Reimold, Fabian R; Muskett, Julie A et al. (2013) Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct. JAMA Otolaryngol Head Neck Surg 139:907-13
Kronenberger, William G; Pisoni, David B; Harris, Michael S et al. (2013) Profiles of verbal working memory growth predict speech and language development in children with cochlear implants. J Speech Lang Hear Res 56:805-25

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