Cochlear implantation in children with Waardenburg syndrome

Abstract

Waardenburg syndrome is an autosomal-dominant trait resulting from mutations occurring in different genes. It is often characterized by varying degrees of: congenital hearing loss; dystopia canthorum; synophrys; broad nasal root; depigmentation of hair (white forelock), skin or both; and heterochromic or hypochromic irides. A retrospective case study was done to assess speech perception, speech production, general intelligence and educational setting in six profoundly hearing-impaired children with Waardenburg syndrome (four with type I, one with type II and one with type III) ranging in age from two years to 14 years, seven months (mean = six years, six months). None of the patients had malformation of the cochlea and were implanted using Nucleus 22/24 and Med-el combi40+. Five out of the six cases were of average intelligence and one had a borderline intelligence quotient. The follow-up period ranged from one year, 10 months to six years, six months (mean = three years, six months) after implantation. The evaluation of auditory perception in patients was accomplished using the Persian Auditory Perception Test for the Hearing-Impaired, a Persian Spondee words test and the Categories of Auditory Performance Index. The Speech Intelligibility Rating test was used to evaluate speech production ability. All the patients' speech perception and speech intelligibility capabilities improved considerably after receiving the implants, and they were able to be placed in regular educational settings. Patients used their cochlear-implant devices whenever awake, implying that they benefitted from the devices. We suggest that any further expansion of cochlear-implantation criteria in children include those with Waardenburg syndrome.