Cochlear implant rehabilitation outcomes in Waardenburg syndrome children.
OBJECTIVE
The purpose of this study was to review the outcomes of children with documented Waardenburg syndrome implanted in the ENT Department of Centro Hospitalar de Coimbra, concerning postoperative speech perception and production, in comparison to the rest of non-syndromic implanted children.


METHODS
A retrospective chart review was performed for children congenitally deaf who had undergone cochlear implantation with multichannel implants, diagnosed as having Waardenburg syndrome, between 1992 and 2011. Postoperative performance outcomes were assessed and confronted with results obtained by children with non-syndromic congenital deafness also implanted in our department. Open-set auditory perception skills were evaluated by using European Portuguese speech discrimination tests (vowels test, monosyllabic word test, number word test and words in sentence test). Meaningful auditory integration scales (MAIS) and categories of auditory performance (CAP) were also measured. Speech production was further assessed and included results on meaningful use of speech Scale (MUSS) and speech intelligibility rating (SIR).


RESULTS
To date, 6 implanted children were clinically identified as having WS type I, and one met the diagnosis of type II. All WS children received multichannel cochlear implants, with a mean age at implantation of 30.6±9.7months (ranging from 19 to 42months). Postoperative outcomes in WS children were similar to other nonsyndromic children. In addition, in number word and vowels discrimination test WS group showed slightly better performances, as well as in MUSS and MAIS assessment.


CONCLUSIONS
Our study has shown that cochlear implantation should be considered a rehabilitative option for Waardenburg syndrome children with profound deafness, enabling the development and improvement of speech perception and production abilities in this group of patients, reinforcing their candidacy for this audio-oral rehabilitation method.
Cochlear Implant Unit, ENT Department, Centro Hospitalar de Coimbra, E.P.E. Quinta dos Vales - São Martinho do Bispo 3041-853 Coimbra, Portugal. susanasousaandrade@gmail.com
Susana Margarida
SM
de Sousa Andrade
Ana Rita Tomé
AR
Monteiro
Jorge Humberto Ferreira
JH
Martins
Marisa Costa
MC
Alves
Luis Filipe
LF
Santos Silva
Jorge Manuel Cardoso
JM
Quadros
Carlos Alberto Reis
CA
Ribeiro
D001307:Auditory Perception; D002675:Child, Preschool; D003054:Cochlear Implants; D003638:Deafness / Q000534:rehabilitation / Q000601:surgery*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000534:rehabilitation / Q000601:surgery*; D006801:Humans; D007223:Infant; D008297:Male; D012189:Retrospective Studies; D013065:Speech Intelligibility; D013067:Speech Perception; D016896:Treatment Outcome; D014849:Waardenburg Syndrome / Q000534:rehabilitation / Q000601:surgery*