Paediatric Cochlear Implantation in Patients with Waardenburg Syndrome

Abstract

Objective: To analyse the benefit of cochlear implantation in young deaf children with Waardenburg syndrome (WS) compared to a reference group of young deaf children without additional disabilities. Method: A retrospective study was conducted on children with WS who underwent cochlear implantation at the age of 2 years or younger. The post-operative results for speech perception (phonetically balanced standard Dutch consonant-vocal-consonant word lists) and language comprehension (the Reynell Developmental Language Scales, RDLS), expressed as a language quotient (LQ), were compared between the WS group and the reference group by using multiple linear regression analysis. Results: A total of 14 children were diagnosed with WS, and 6 of them had additional disabilities. The WS children were implanted at a mean age of 1.6 years and the 48 children of the reference group at a mean age of 1.3 years. The WS children had a mean phoneme score of 80% and a mean LQ of 0.74 at 3 years post-implantation, and these results were comparable to those of the reference group. Only the factor additional disabilities had a significant negative influence on auditory perception and language comprehension. Conclusions: Children with WS performed similarly to the reference group in the present study, and these outcomes are in line with the previous literature. Although good counselling about additional disabilities concomitant to the syndrome is relevant, cochlear implantation is a good rehabilitation method for children with WS.

Desempenho de audição e linguagem pós implante coclear em crianças com síndrome de Waardenburg

“…In addition, evidence shows that hearing loss in this syndrome is mainly related to cochlear histological impairment . (6) These facts are relevant to explain the good performance of these children when implanted, both in the results shown here and in other series in the literature, even when compared with non-syndromic individuals (2,10,11) . There are reports of patients with WS who also present cochlear bone malformations, which could pose greater difficulties to the implantation procedure (10) .…”

Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome

“…Confirmed hearing loss requires appropriate referral (otolaryngology, speech‐language pathology, audiology, genetics) and intervention by no later than 6 months of age . Congenital sensorineural hearing loss treated with cochlear implants improves language, communication, and cognitive skills . At least 2 weeks prior to cochlear implant placement, in addition to routine age‐specific vaccinations, the child should receive pneumococcal vaccines (PCV13 and/or PPSV23) because of the heightened risk for bacterial meningitis …”

“…87 Congenital sensorineural hearing loss treated with cochlear implants improves language, communication, and cognitive skills. [88][89][90][91][92][93] At least 2 weeks prior to cochlear implant placement, in addition to routine age-specific vaccinations, the child should receive pneumococcal vaccines (PCV13 and/or PPSV23) because of the heightened risk for bacterial meningitis. 94,95 The majority (> 60%) of WS2 cases are unexplained at the molecular level.…”

Percepção da fala, linguagem oral e qualidade de vida em indivíduos com síndromes genéticas usuários de implante coclear

“…Outro aspecto pertinente é que, a maioria dos participantes desse grupo (80%) apresentava DNPM dentro dos padrões esperados para a idade, comprovados a partir de avaliação neuropsicológica realizada na etapa pré-cirúrgica e registrada no prontuário, o que permite supor que haviam condições para a realização de procedimentos comportamentais e, consequentemente, estabelecimento do diagnóstico da perda auditiva de grau acentuado precocemente. , 2007;MEINZEN-DERR et al, 2010;MOOG;GEERS, 2010;COLLETTI et al, 2011;SEDEY, 2011;KONTORINIS et al, 2011;HARRIS et al, 2013;DUNN et al, 2014;TREVISI et al, 2016;VAN NIEROP et al, 2016b;ALZHRANI et al, 2018;SIAGH, 2018). O papel da família, o meio ambiente e a inclusão precoce no meio educacional são fortemente destacados como peças fundamentais no processo de habilitação/reabilitação auditiva em usuários de IC, para o desenvolvimento das habilidades auditivas e da linguagem oral (MOOG;GEERS, 2010;SZAGUN;STUMPER, 2012;ALZHRANI et al, 2018).…”

“…As limitações nos resultados de percepção da fala e linguagem oral nos indivíduos com síndromes genéticas também são demonstradas nos estudos realizados por Kontorinis et al (2011);Trevisi et al (2016); Van Nierop et al (2016b) e Young et al (2017). Destaca-se o estudo realizado por Meinzen-Derr et al (2010) sobre crianças com atraso cognitivo que apresentaram ganhos mensuráveis pós- 2003;RAY et al, 2006;WILSON;DORMAN, 2008).…”