Waardenburg syndrome: characteristics and long-term outcomes of paediatric cochlear implant recipients

Abstract

Objective: To assess the long-term outcomes after cochlear implantation in children under 3 years of age with Waardenburg syndrome (WS), concerning preoperative radiological imaging, intraoperative surgical findings and postoperative auditory and speech performance.

Material and methods: A retrospective analytical study conducted on the young WS children with bilateral profound sensorineural hearing loss (SNHL) who underwent the cochlear implantation. Postoperative outcomes were confronted with results obtained by aged-matched peers without additional disabilities. The auditory performance was assessed with the MAIS and CAP. The speech and language development were evaluated with the MUSS and SIR. Radiological evaluation was performed with the MRI and HRCT scans.

Results: There were 22 children with WS, who received a multichannel implant at a mean age of 23.5 months of age (SD 7.5, range: 12–36 months). WS group outperformed non-syndromic (NS) children in SIR (4.7, 95%, SD 0.8 vs. 4.3, 95%, SD 0.8) and MUSS (35.6, 95%, SD 3.4 vs. 30.3, 95%, SD 7.6). Auditory performance assessed in MAIS/IT-MAIS improved similarly in both groups (34.8, 95%, SD 1.8 in WS vs. 35, 95%, SD 2.5 in NS children). The reference group gained significantly higher scores in CAP (6.2, 95%, SD 0.7 vs. 5.8, 95%, SD 1.8). Additional anomalies of the inner ear were observed including the enlarged vestibular aqueduct (EVA), common cavity deformity (CCD), incomplete partition type II (IP-II). Two cases presented various forms of mental retardation.

Conclusion: The study demonstrated that cochlear implantation in young children with WS is a beneficial method treating profound SNHL. The most beneficial outcomes may be achieved thanks to the early implantation, parental involvement and comprehensive care from speech therapists, preferably implemented altogether. The detailed radiological examination and psychological assessment should be considered before the implantation. The results support the concept of early cochlear implantation in children with genetic disorders.

Keywords:

• Waardenburg syndrome
• cochlear implantation
• speech performance
• outcomes CI

Disclosure statement

The authors have no funding, financial relationships or conflicts of interest to disclose. The principal investigator of the research, Pedro Clarós (MD PhD), states that he had full access to all data in the study and took responsibility for the integrity of the data and accuracy of the data analysis. In our research, two authors, i.e. Pedro Clarós (MD PhD; Clarós Clinic, Cochlear Implant Center, Barcelona, Spain) and Agnieszka Remjasz (MD; Clarós Clinic, Cochlear Implant Center, Barcelona, Spain; Department of Otorhinolaryngology at Stefan Zeromski Specialist Hospital, Cracow, Poland) conducted and were responsible for the data analysis.