Cochlear implantations in children with Waardenburg syndrome: an electrophysiological and psychophysical review.

Waardenburg syndrome presents with dystopia canthorum, pigmentary abnormalities of hair, iris and skin (often a white forelock and heterochromia iridis) and sensorineural deafness. The authors review the electrophysiological and psychophysical findings of implanted children with Waardenburg syndrome at the Sydney Cochlear Implant Centre. Twenty children with Waardenburg syndrome received cochlear implants between 1985 and 2001. Electrical auditory brainstem response (EABR) was performed in all of these patients intra-operatively as part of the routine investigations. Only 13 of these patients were assessed one year or more post-operatively by means of the Melbourne Categories (0-7). Four patients (20%) were found to have abnormal EABR recordings. The mode of Melbourne Categories in this group (n = 3) was 1 at one year post-operation. The other 16 patients were found to have normal EABR and the mode of Melbourne Categories in this group (n = 10) was 7. A poor outcome after cochlear implantation was associated with abnormal EABR recordings (a 'true' auditory neuropathy) and was found in a significant proportion of patients with Waardenburg syndrome.