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Audiologic and Vestibular Findings in Wolfram Syndrome

Karzon, Roanne K.1,2; Hullar, Timothy E.2

doi: 10.1097/AUD.0b013e3182944db7
Brief Reports

Objectives: Assessment of auditory and vestibular function in Wolfram Syndrome (WS) patients, using a standardized protocol.

Design: Prospective cohort study of 11 patients using otoscopic inspection, tympanometry, otoacoustic emissions, pure tones, speech in noise (SIN), the Speech Intelligibility Index, and rotational chair testing.

Results: Mean SNHL diagnosis was 7.3 years with 55% prevalence. Four patients with a Speech Intelligibility Index less than 0.75 (better ear) routinely used bilateral amplification devices. Two patients with normal-hearing sensitivity exhibited abnormal SIN scores. The only patient with significant vestibular dysfunction also had a distinctive low-frequency component to her SNHL.

Conclusions: Hearing loss may occur earlier than previously suspected, and comprehensive testing including SIN testing may reveal deficits not apparent with pure-tone testing. Particular configurations of hearing loss may indicate a need for comprehensive vestibular assessment. Because SNHL can be the first symptom of WS, audiologists and otolaryngologists should be vigilant about referring patients with hearing loss for ophthalmologic examination.

Supplemental Digital Content is available in the text.Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disease characterized by diabetes mellitus, diabetes insipidus, optic nerve atrophy and sensorineural hearing loss. Onset and progression of hearing loss is not fully understood because most previous reports relied on subjective reporting or lacked sufficient methodological detail. Vestibular function is scarcely reported. The authors report results of comprehensive, standardized, audiologic and vestibular testing for patients with WS. New to this population, the Speech Intelligibility Index was applied to assess functional degree of hearing loss as a guide to amplification recommendations. Importantly, WS can present in individuals with hearing loss even under the age of 3.

1Department of Audiology, 2Department of Otolaryngology—Head and Neck Surgery, St. Louis Children’s Hospital, Washington University School of Medicine, St. Louis, Missouri, USA.

ACKNOWLEDGMENTS: The authors are grateful to Belinda Sinks, AuD, Meghan Hiss, AuD, Jori Weingarten, AuD, and Lauren Lawler, AuD for conducting the audiologic and vestibular tests. The authors thank Alan Permutt, MD, for invitation to the multidisciplinary study team. The authors also thank the members of the Washington University Wolfram Study Group: P. Austin, MD, A. Bondurant, BA, G. Earhart, PhD, T. Hershey, PhD, J. Hoekel, MD, J. Lapp, BA, J. Leey, MD, H. M. Lugar, MA, L. Manwaring, MS, B. Marshall, MD, C. Nguyen, BS, A. R. Paciorkowski, MD, A. Permutt, MD, K. Pickett, PhD, J. Rutlin, BS, J. Shimony, MD, PhD, A. Viehoever, MD, J. Wasson, BS, and White MD, CDE.

This study was supported by NIH grant K08 DC006869 (to T.E.H.) Clinical and Translational Science Award Grant # UL1RR024992, UL1 RR024992, DK016746-39, and National Center for Research Resources grant 1S10RR022984-01A1. Additional funding was received from the Jack and J.T. Snow Fund at Washington University, the America Diabetes Association, and the George Decker and Julio V. Santiago Pediatric Diabetes Research Fund.

Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and text of this article on the journal’s Web site (

Address for correspondence: Roanne K. Karzon, St. Louis Children’s Hospital, One Children’s Place 3S23, St. Louis, MO 63110, USA. E-mail:

© 2013 by Lippincott Williams & Wilkins