Hearing and speech performance after cochlear implantation in children with Waardenburg syndrome
Desempenho de audição e linguagem pós implante coclear em crianças com síndrome de Waardenburg
José Fernando Polanski; Ana Paula Kochen; Carolina Arcoverde de Oliveira
Abstract
Waardenburg syndrome (WS) is a rare autosomal-dominant syndrome that can be presented with sensorineural hearing loss. In this report, we describe the outcomes of three children with WS at zero, three, nine, twelve and sixty months after cochlear implant (CI) fitting. The outcomes were assessed using IT-MAIS (Infant-Toddler Meaningful Auditory Integration Scale – younger than 5 year), MAIS (Meaningful Auditory Integration Scale – older than 5 year), MUSS (Meaningful Use of Speech Scale), and categories of auditory performance and speech intelligibility. The results showed an improvement in auditory and language performance over time, two patients who used CI for 5 years achieved 100% in IT-MAIS and MUSS tests. In addition, both were able to understand sentences in open set and achieve fluent speech. Moreover, both reached fluency on auditory and language performance scale. The third patient with 50 months of follow-up and in the 48 months evaluation, is in category 5 of auditory performance and 3 of speech intelligibility. We concluded that all children who had low levels of hearing and language before cochlear implant have improved hearing and language skills after implantation and rehabilitation.
Keywords
Resumo
A Síndrome de Waardenburg (SW) é uma condição genética rara de padrão autossômico dominante e que pode cursar com perda auditiva neurossensorial. Nesse relato, apresentamos o desempenho da audição e linguagem de três crianças com SW, com zero, três, nove, doze e sessenta meses de seguimento após implante coclear (IC). As crianças foram avaliadas através dos questionários Escala de Integração Auditiva IT-MAIS (até 5 anos), MAIS (maiores de 5 anos), Escala de Utilização da Fala (MUSS) e categorizados quanto à audição e linguagem. Os resultados demonstraram uma melhora no desempenho da audição e linguagem ao longo do tempo, sendo que os dois pacientes que usaram o IC por 5 anos alcançaram 100% no IT-MAIS, MAIS e MUSS. Além disso, ambos foram capazes de compreender sentenças em conjunto aberto e possuem fala fluente, considerando-se as categorias de audição e linguagem. O terceiro paciente, com 50 meses de seguimento, encontra-se, na avaliação aos 48 meses, na categoria 5 de audição e 3 de linguagem. Conclui-se assim que as crianças da pesquisa, que apresentavam níveis baixos de audição e linguagem antes do implante coclear, passaram a apresentar melhores respostas auditivas e linguísticas após a implantação e reabilitação.
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Referências
1 Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Review and update of mutations causing Waardenburg syndrome. Hum Mutat. 2010;31(4):391-406. http://dx.doi.org/10.1002/humu.21211. PMid:20127975. [ Links ]
2 Clarós P, Remjasz A, Clarós-Pujol A, Pujol C, Clarós A. Waardenburg syndrome: characteristics and long-term outcomes of paediatric cochlear implant recipients. Hear Balance Commun. 2019;17(3):213-28. http://dx.doi.org/10.1080/21695717.2019.1630979. [ Links ]
3 Nayak CS, Isaacson G. Worldwide distribution of Waardenburg syndrome. Ann Otol Rhinol Laryngol. 2003;112(9 Pt 1):817-20. http://dx.doi.org/10.1177/000348940311200913. PMid:14535568. [ Links ]
4 Sousa Andrade SM, Monteiro AR, Martins JH, Alves MC, Silva LF, Quadros JM, et al. Cochlear implant rehabilitation outcomes in Waardenburg syndrome children. Int J Pediatr Otorhinolaryngol. 2012;76(9):1375-8. http://dx.doi.org/10.1016/j.ijporl.2012.06.010. PMid:22784507. [ Links ]
5 Geers AE. Techniques for assessing auditory speech perception and lipreading enhancement in young deaf children. Volta Review. 1994;96:85-96. [ Links ]
6 Cullen RD, Zdanski C, Roush P, Brown C, Teagle H, Pillsbury HC 3rd, et al. Cochlear implants in Waardenburg syndrome. Laryngoscope. 2006;116(7):1273-5. http://dx.doi.org/10.1097/01.mlg.0000221959.67801.9b. PMid:16826074. [ Links ]
7 Read AP, Newton VE. Waardenburg syndrome. J Med Genet. 1997;34(8):656-65. http://dx.doi.org/10.1136/jmg.34.8.656. PMid:9279758. [ Links ]
8 Brito R, Monteiro TA, Leal AF, Tsuji RK, Pinna MH, Bento RF. Surgical complications in 550 consecutive cochlear implantation. Rev Bras Otorrinolaringol. 2012;78(3):80-5. PMid:22714851. [ Links ]
9 Alexiades G, Roland JT Jr, Fishman AJ, Shapiro W, Waltzman SB, Cohen NL. Cochlear reimplantation: surgical techniques and functional results. Laryngoscope. 2001;111(9):1608-13. http://dx.doi.org/10.1097/00005537-200109000-00022. PMid:11568614. [ Links ]
10 Bayrak F, Çatlı T, Atsal G, Tokat T, Olgun L. Waardenburg Syndrome: an unusual indication of cochlear implantation experienced in 11 patients. J Int Adv Otol. 2017;13(2):230-2. http://dx.doi.org/10.5152/iao.2017.3017. PMid:28414277. [ Links ]
11 van Nierop JW, Snabel RR, Langereis M, Pennings RJ, Admiraal RJ, Mylanus EA, et al. Paediatric cochlear implantation in patients with Waardenburg Syndrome. Audiol Neurootol. 2016;21(3):187-94. http://dx.doi.org/10.1159/000444120. PMid:27245679. [ Links ]
12 Yehudai N, Tzach N, Shpak T, Most T, Luntz M. Demographic factors influencing educational placement of the hearing-impaired child with a cochlear implant. Otol Neurotol. 2011;32(6):943-7. http://dx.doi.org/10.1097/MAO.0b013e31821a8407. PMid:21512422. [ Links ]
13 Iseli C, Buchman CA. Management of children with severe, severe-profound, and profound sensorineural hearing loss. Otolaryngol Clin North Am. 2015;48(6):995-1010. http://dx.doi.org/10.1016/j.otc.2015.06.004. PMid:26293693. [ Links ]
14 Leigh JR, Dettman SJ, Dowell RC. Evidence-based guidelines for recommending cochlear implantation for young children: audiological criteria and optimizing age at implantation. Int J Audiol. 2016;55(Supl 2):S9-18. http://dx.doi.org/10.3109/14992027.2016.1157268. PMid:27142630. [ Links ]
15 Alves M, Ramos D, Alves H, Martins JH, Silva L, Ribeiro C. Os questionários MAIS e MUSS na avaliação da evolução do desempenho auditivo e comunicativo de crianças utilizadoras de implante coclear. Port J ORL. 2015;53:145-8. [ Links ]
Recebido: 22 de Novembro
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