Hyperactive auditory efferent system and lack of acoustic reflexes in Williams syndrome

The auditory efferent system and acoustic reflexes have been investigated in patients with Williams syndrome (WS). Twenty-one patients aged 6-26 years with a genetically confirmed diagnosis of WS and with reported hyperacusis were compared with 21 normally developing age-matched subjects. The medial olivocochlear (MOC) efferent system was tested by stimulation of the contralateral ear with increasing levels of white noise, while recording transient evoked otoacoustic emissions (TEOAE) in the ipsilateral ear. The suppression effect on the amplitudes of the TEOAE was computed for each contralateral stimulus level. This measure reflects the strength of the MOC efferent system. In addition, the thresholds of ipsilateral and contralateral acoustic reflexes in response to 1, 2 and 4 kHz tones as well as to broadband stimuli were also recorded. Results showed that patients with WS had a significantly higher suppression effect of the MOC reflex on TEOAE. Ipsilateral and contralateral acoustic reflexes to tonal and broadband stimuli presented at maximum stimulus intensities were absent in 62-86% of the patients with WS. In the remainder, acoustic reflexes were elicited at lower auditory sensation thresholds than in controls. Hyperexcitability of the MOC efferent system coupled with absence of acoustic reflexes may contribute to the hyperacusis in WS and the consequent high-tone hearing loss induced by environmental noise. Both measures can be used for objective detection and thus, intervention of hyperacusis in the early stages of life.