A Family With Autosomal-Dominant Progressive Sensorineural Hearing Loss Rehabilitation and Counseling Clinical Focus: Grand Rounds
Clinical Focus: Grand Rounds  |   March 01, 1996
A Family With Autosomal-Dominant Progressive Sensorineural Hearing Loss
 
Author Affiliations & Notes
  • Chris Halpin
    Audiology, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston MA 02114
  • Barbara Herrmann
    Audiology, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston MA 02114
  • Margaret Whearty
    Audiology, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston MA 02114
  • This article is one of three related articles in this issue. The Short Course, "New Methods in the Molecular Genetic Study and Treatment of Hearing Loss," gives the reader a foundation in the genetic methods used in the series; the Article, "Autosomal-Dominant Progressive Sensorineural Hearing Loss in a Large North American Family," provides the data and methods; and, finally, this Grand Rounds explores the clinical implications.
    This article is one of three related articles in this issue. The Short Course, "New Methods in the Molecular Genetic Study and Treatment of Hearing Loss," gives the reader a foundation in the genetic methods used in the series; the Article, "Autosomal-Dominant Progressive Sensorineural Hearing Loss in a Large North American Family," provides the data and methods; and, finally, this Grand Rounds explores the clinical implications.×
Article Information
Hearing Disorders / Hearing Aids, Cochlear Implants & Assistive Technology / Audiologic / Aural Rehabilitation / Clinical Focus / Grand Rounds
Clinical Focus: Grand Rounds   |   March 01, 1996
A Family With Autosomal-Dominant Progressive Sensorineural Hearing Loss
American Journal of Audiology, March 1996, Vol. 5, 23-32. doi:10.1044/1059-0889.0501.23
History: Received August 11, 1994 , Accepted March 17, 1995
 
American Journal of Audiology, March 1996, Vol. 5, 23-32. doi:10.1044/1059-0889.0501.23
History: Received August 11, 1994; Accepted March 17, 1995

The family described in this article provides an unusual opportunity to relate findings from genetic, histological, electrophysiological, psychophysical, and rehabilitative investigation. Although the total number evaluated is large (49), the known, living affected population is smaller (14), and these are spread from age 20 to age 59. As a result, the findings described above are those of a large-scale case study. Clearly, more data will be available through longitudinal study of the individuals documented in the course of this investigation but, given the slow nature of the progression in this disease, such studies will be undertaken after an interval of several years.

The general picture presented to the audiologist who must rehabilitate these cases is that of a progressive cochlear degeneration that affects only thresholds at first, and then rapidly diminishes speech intelligibility. The expected result is that, after normal language development, the patient may accept hearing aids well, encouraged by the support of the family. Performance and satisfaction with the hearing aids is good, until the onset of the speech intelligibility loss, at which time the patient will encounter serious difficulties and may reject hearing aids as unhelpful. As the histological and electrophysiological results indicate, however, the eighth nerve remains viable, especially in the younger affected members, and success with cochlear implantation may be expected. Audiologic counseling efforts are aided by the presence of role models and support from the other affected members of the family. Speech-language pathology services were not considered important by the members of this family since their speech production developed normally and has remained very good. Self-correction of speech was supported by hearing aids and cochlear implants (Case 5’s speech production was documented in Perkell, Lane, Svirsky, & Webster, 1992). These patients received genetic counseling and, due to the high penetrance of the disease, exhibited serious concerns regarding future generations and the hope of a cure.

Acknowledgments
The authors would like to acknowledge the contribution of Ellen O’Neil and Ann-Marie Hennessey in the evaluation of these patients, and to Aaron Thornton, Mary Trainor, Don Eddington, Lynne Davis, Ellen O’Neil, Darlene Ketten, and the entire staff of the Hearing Aid Center at the Massachusetts Eye and Ear Infirmary for thoughtful insights on the evaluation and management of these patients. Portions of this work were supported by a grant from the National Institutes of Health (DC-00361). The authors would also like to thank Harold Schuknecht, Saumil Merchant, and colleagues at the Massachusetts Eye and Ear Infirmary Temporal Bone Laboratory (NIH grant: DC-0007928) for the use of the photomicrographs in Figure 3.
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