Audiological outcomes of cochlear implantation in Waardenburg Syndrome

Abstract

Summary Introduction: The most relevant clinical symptom in Waardenburg syndrome is profound bilateral sensorioneural hearing loss. Aim: To characterize and describe hearing outcomes after cochlear implantation in patients with Waardenburg syndrome to improve preoperative expectations. Method: This was an observational and retrospective study of a series of cases. Children who were diagnosed with Waardenburg syndrome and who received a multichannel cochlear implant between March 1999 and July 2012 were included in the study. Intraoperative neural response telemetry, hearing evaluation, speech perception, and speech production data before and after surgery were assessed. Results: During this period, 806 patients received a cochlear implant and 10 of these (1.2%) were diagnosed with Waardenburg syndrome. Eight of the children received a Nucleus 24® implant and 1 child and 1 adult received a DigiSonic SP implant. The mean age at implantation was 44 months among the children. The average duration of use of a cochlear implant at the time of the study was 43 months. Intraoperative neural responses were present in all cases. Patients who could use the speech processor effectively had a pure tone average of 31 dB in free-field conditions. In addition, the MUSS and MAIS questionnaires revealed improvements in speech perception and production. Four patients did not have a good outcome, which might have been associated with ineffective use of the speech processor. Conclusion: Despite the heterogeneity of the group, patients with Waardenburg syndrome who received cochlear implants were found to have hearing thresholds that allowed access to speech sounds. However, patients who received early intervention and rehabilitation showed better evolution of auditory perception.

Outcomes of Cochlear implantation in early‐deafened patients with Waardenburg syndrome: A systematic review and narrative synthesis

“…All studies were published between 2000 and 2022. Study characteristics are summarized in Table 1 15,24–38 …”

“…The rationale for early implantation is based on there being a period of maximal neural plasticity in the auditory pathways which ends at around age 3.5 39,40 . This was supported by Magalhaes et al, who found that in their cohort children who had later implantation after the age of three had worse hearing and speech outcomes following CI, these children also had later initial fitting of hearing aids and aural rehabilitation 26 . Conversely, Amirsalari et al, found that age at implantation had no significant effect on hearing and speech outcomes however, this may influenced by their small study population 29 .…”

“…A wide range of assessment tools were used with few studies having comparable pre‐ and post‐operative assessment tools. Where comparable measures were used improvement in CAP and MAIS score demonstrated improvement from baseline assessment for speech recognition 26,27,29 . Similarly, where SIR or MUSS scores were reported pre‐ and post‐implantation, studies demonstrated improved functionality following cochlear implantation 26,27,29 .…”

“…Where comparable measures were used improvement in CAP and MAIS score demonstrated improvement from baseline assessment for speech recognition 26,27,29 . Similarly, where SIR or MUSS scores were reported pre‐ and post‐implantation, studies demonstrated improved functionality following cochlear implantation 26,27,29 . Whilst the majority of studies assessed either pure‐tone audiometry or speech perception postoperatively, all studies that assessed speech intelligibility showed improvement in the linguistic ability following CI 24,26,27,29,30,32,34 …”

Cochlear morphology in the developing inner ear of the porcine model of spontaneous deafness

“…It is confirmed that outcomes of cochlear implant in WS children are similar to other non-syndromic SNHL children [ 24 – 26 ]. It is also suggested that patients who received early intervention show a better hearing and language skills [ 27 ]. However few studies have identified the intervention time and the outcome of the cochlear implants.…”