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Hyperacusis in Williams syndrome

Characteristics and associated neuroaudiologic abnormalities

From the Behavioral Neurogenetics Center (D.G., A.A.), Feinberg Child Study Center, and the Institute for Clinical Neurophysiology and Audiology (J.A.), Schneider Children's Medical Center of Israel, Petah Tiqwa; Department of Otolaryngology and Head and Neck Surgery (E.R.), Schneider Children's Medical Center of Israel and Rabin Medical Center, Petah Tiqwa; Sackler Faculty of Medicine, Tel Aviv University (D.G., N.F., E.R.), Tel Aviv; and Department of Communication Disorders (J.A.), Haifa University, Haifa, Israel.

Address correspondence and reprint requests to Dr. D. Gothelf, Center for Interdisciplinary Brain Sciences Research, Department of Psychiatry and Behaviorial Sciences, Stanford University Medical Center, 401 Quarry Rd., Stanford, CA 94305; e-mail: gothelf{at}post.tau.ac.il

Background: Hyperacusis and phonophobia are common, debilitating symptoms in Williams syndrome (WS), yet little is known about their underlying audiologic and neurologic processes.

Methods: The mothers of 49 subjects with WS were asked to complete the Hyperacusis Screening Questionnaire. Subjects with reported hyperacusis and sufficient developmental capacity underwent comprehensive audiological and brain auditory evoked response (BAER) testing. Findings were compared with those from pair-matched typically developing control subjects.

Results: Forty-one of the 49 children with WS (84%) had hyperacusis of moderate to severe degree, which began in infancy. Of these, 21 (mean age 15.8 ± 5.5 years) were quantitatively tested. Subjects with WS reported discomfort at sound intensities on average 20 dB lower than control subjects. Pure-tone audiometry and distortion products otoacoustic emission test revealed a high-frequency cochlear hearing loss. An absence of ipsilateral acoustic reflex responses to maximum stimulation was significantly more common in the subjects with WS than controls. On BAER testing, the WS group had a significant prolongation in wave I latency.

Conclusions: Hyperacusis in Williams syndrome (WS) is associated with a high-frequency hearing loss resembling the configuration of noise-induced hearing loss. The hyperacusis and hearing loss in WS may stem from a deficiency in the acoustic reflex resulting from auditory nerve dysfunction. Additional mechanisms that may mediate hyperacusis in WS and should be evaluated in future studies include recruitment, malformation of the facial canal, and haploinsufficiency of the elastin gene.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the February 14 issue to find the title link for this article.

Supported by grant from the Friends of Schneider Children's Medical Center of Israel.

Disclosure: The authors report no conflicts of interest.

Received March 29, 2005. Accepted in final form October 19, 2005.