Hearing Characteristics and Cochlear Implant Effects in Children with Waardenburg Syndrome: a Case Series.

Background:Waardenburg syndrome (WS) has high clinical and genetic heterogeneity. We aimed to investigate the clinical characteristics of children with WS, and to analyze the effect of cochlear implantation in children with WS who had severe sensorineural hearing loss.Methods:The clinical characteristics of children with WS diagnosed and treated in the past 5 years in the Department of Otolaryngology, Shanghai Children's Hospital were retrospectively analyzed. The 5 WS cases, including 2 males and 3 females, had bilateral severe sensorineural hearing loss. Cochlear implantation was performed between 8 and 21 months old. Audiology tests were conducted, including otoacoustic emissions (OAEs), auditory brainstem response (ABR), and multiple auditory steady-state evoked responses (ASSR). Preoperative computerized tomography (CT) and magnetic resonance imaging (MRI) were performed to evaluate the development of the inner ear and brain. All WS cases were evaluated for hearing and speech abilities before cochlear implantation and at 1 month, 6 months, 12 months, and 24 months after implantation.Results:Among the 5 cases, 3 were WS1, 1 was WS2, and 1 was WS4. All 5 cases received cochlear implantation, and postoperative CT showed that the implant position was good. The infant toddler meaningful auditory integration scale (IT-MAIS) and meaningful use of speech scale (MUSS) scores of all cases increased with hearing age, and IT-MAIS scores were lower than those of normal hearing children of the same age.Conclusions:Children with WS usually have hearing loss. In WS cases with severe sensorineural hearing loss, early cochlear implantation can achieve better hearing and speech development.