Treatment of hyperacusis in Williams syndrome with bilateral conductive hearing loss

Abstract

Williams syndrome (WS) is a rather rare congenital disorder characterised by a series of cardiovascular, maxillo-facial and skeletal abnormalities. It sometimes displays otorhinolaryngological symptoms because of the relatively high incidence of secretory otitis media and hyperacusis, which may be present in up to 95% of patients. The present paper describes a case of WS associated with bilateral conductive hearing loss which was not related to secretory otitis media. Hyperacusis was, moreover, present in spite of the conductive deafness. Surgical or prosthetic treatment of hearing loss was delayed because of hyperacusis. Treatment of the hyperacusis by acoustic training, instead, yielded excellent, long-lasting remission of the symptoms.

Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek Population

“…Defining the biologic basis for the specific defects, along with the behavioral profile found in individuals with WS, would explain how cognition is linked ultimately to the genes (51,52). Hyperacusis during childhood was consistent in our series (90%) (53,54).…”

Multisystem study of 20 older adults with Williams syndrome

“…Few published studies have analyzed hearing in adults with WS [Lopez-Rangel et al, 1992;Plissart et al, 1994;Johnson et al, 2001;Miani et al, 2001]. Available reports mention occasional patients with sensorineural hearing loss (SNHL), though Johnson et al found moderate high frequency SNHL in three of the four young adults they tested aged 18-25 years.…”

A Review of Hyperacusis and Future Directions: Part I. Definitions and Manifestations

“…In addition to auditory anomalies such as hyperacusis (Attias, Raveh, Ben-Naftali, Zarchi, & Gothelf, 2008;Elsabbagh, Cohen, Cohen, Rosen, & Karmiloff-Smith, 2011;Levitin, Cole, Lincoln, & Bellugi, 2005;Matsumoto et al, 2011), other reported phenomena in Williams syndrome include auditory allodynia (Levitan & Bellugi, 1998;Levitan et al, 2005Levitan et al, , 2003Miani, Passon, Bracale, Barotti, & Panzolli, 2001). Cortical anatomical abnormalities have in part been attributed to reduced volume and altered sulcal morphology of the Sylvian fissure, atypical primary auditory cortex cytoarchitecture, and increased volume of the superior temporal gyrus.…”