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

Clarós, Pedro; Remjasz, Agnieszka; Clarós-Pujol, Astrid; Pujol, Carmen

doi:10.1080/21695717.2019.1630979

Cited by 3 publications

(32 citation statements)

References 45 publications

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“…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) .…”

Section: Discussionsupporting

confidence: 69%

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

Polanski

Kochen²,

Oliveira

2020

CoDAS

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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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Section: Discussionsupporting

confidence: 69%

“…The syndrome manifests in 4 clinical types: types I and II are characterized by the presence and absence of dystopia cantorum, respectively. In types III and IV, which are rare, the patient presents musculoskeletal malformations and, in the latter type, Hirschsprung's disease or congenital aganglionic megacolon (2) .…”

Section: Introductionmentioning

confidence: 99%

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

Polanski

Kochen²,

Oliveira

2020

CoDAS

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

Section: Resultsmentioning

confidence: 99%

“…One study did not report the age at implantation 33 . Thirteen studies reported on the type of implant used 15,24–32,37,38 . Reporting on WS type was variable, with 10 studies specifying the subtype of the condition based on clinical manifestation of the syndrome 24,25,27,28,30,32,34,37,38 .…”

Section: Resultsmentioning

confidence: 99%

“…Speech perception was assessed in all studies through varied tools. The Meaningful Auditory Integration Scale (MAIS) or the Infant‐Toddler Meaningful Auditory Integration Scale (IT‐MAIS) was used most frequently across six studies to assess postoperative speech perception 24,26,30,32,37,38 . Polanski et al, reported both pre and post intervention IT‐MAIS/MAIS demonstrating improvement from average scores of 3%–90%.…”

Section: Resultsmentioning

confidence: 99%

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

Lovett

Eastwood

Metcalfe

et al. 2023

Laryngoscope Investig Oto

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ObjectiveThis systematic review aims to establish the expected hearing and speech outcomes following cochlear implantation (CI) in patients with profound congenital deafness secondary to Waardenburg syndrome (WS).MethodsA systematic review of the literature and narrative synthesis was performed in accordance with the PRISMA statement. Databases searched: Medline, Pubmed, Embase, Web of Science, Cochrane Collection, and ClinicalTrials.gov. No limits were placed on language or year of publication.ResultsSearches identified 186 abstracts and full texts. Of these, 16 studies met inclusion criteria reporting outcomes in 179 patients and at least 194 implants. Hearing outcomes of those receiving cochlear implantation were generally good. Five studies included genetic analysis of one or more of the participants. A total of 11 peri/post‐operative complications were reported. The methodological quality of included studies was modest, mainly comprising noncontrolled case series with small cohort size. All studies were OCEBM grade III–IV.ConclusionCochlear implantation in congenitally deafened children with Waardenburg Syndrome is a well‐established intervention as a method of auditory rehabilitation. Due to the uncommon nature of the condition, there is a lack of large‐scale high‐quality studies examining the use of cochlear implantation in this patient group. However, overall outcomes following implantation are positive with the majority of patients demonstrating improved audiometry, speech perception and speech intelligibility supporting its use in appropriately selected cases.

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Cochlear implantation in Waardenburg syndrome: Systematic review and meta-analysis

Vanstrum,

Castellanos,

Ziltzer

et al. 2023

International Journal of Pediatric Otorhinolaryngology

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

Cited by 3 publications

References 45 publications

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

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

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

Cochlear implantation in Waardenburg syndrome: Systematic review and meta-analysis

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