Speech Perception Outcomes after Cochlear Implantation in Children with GJB2/DFNB1 associated Deafness

Davcheva-Chakar, Marina; Sukarova-Stefanovska, E; Ivanovska, Valentina; Lazarevska, Vesna; Filipche, Ilija S; Zafirovska, Beti

doi:10.5152/balkanmedj.2014.9535

Cited by 9 publications

(3 citation statements)

References 24 publications

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“…Besides, the SIR score improved to 4 which meant that his pronunciation was clearly enough that could be understood by an acquaintance. However, the speech recognition scores with CI on both ears were lower than previously reported patients who have normal cochlea [ 31 , 32 ]. It has been reported that the outcomes of cochlear implantation in patients with IP-III malformation were generally poorer than patients with normal cochlea [ 22 , 27 , 33 ].…”

Section: Discussioncontrasting

confidence: 68%

Cochlear Implantation in a Patient with a Novel POU3F4 Mutation and Incomplete Partition Type-III Malformation

et al. 2020

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Aims. This study is aimed at (1) analyzing the clinical manifestations and genetic features of a novel POU3F4 mutation in a nonsyndromic X-linked recessive hearing loss family and (2) reporting the outcomes of cochlear implantation in a patient with this mutation. Methods. A patient who was diagnosed as the IP-III malformation underwent cochlear implantation in our hospital. The genetic analysis was conducted in his family, including the whole-exome sequencing combined with Sanger sequencing and bioinformatic analysis. Clinical features, preoperative auditory and speech performances, and postoperative outcomes of cochlear implant (CI) were assessed on the proband and his family. Results. A novel variant c.400_401insACTC (p.Q136LfsX58) in the POU3F4 gene was detected in the family, which was cosegregated with the hearing loss. This variant was absent in 200 normal-hearing persons. The phylogenetic analysis and structure modeling of Pou3f4 protein further confirmed that the novel mutation was pathogenic. The proband underwent cochlear implantation on the right ear at four years old and gained greatly auditory and speech improvement. However, the benefits of the CI declined about three and a half years postoperation. Though the right ear had been reimplanted, the outcomes were still worse than before. Conclusion. A novel frame shift variant c.400_401insACTC (p.Q136LfsX58) in the POU3F4 gene was identified in a Chinese family with X-linked inheritance hearing loss. A patient with this mutation and IP-III malformation could get good benefits from CI. However, the outcomes of the cochlear implantation might decline as the patient grows old.

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Section: Discussioncontrasting

confidence: 68%

Cochlear Implantation in a Patient with a Novel POU3F4 Mutation and Incomplete Partition Type-III Malformation

et al. 2020

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“…The discrepancies among these studies may be because different tests were administered to evaluate patients with different lengths of CI use ( Table 1 ). Some studies only addressed the outcomes for the first 2 years after implantation [ 11 , 12 , 15 , 20 , 22 ], while others preformed assessments until postoperative year 3 [ 13 , 14 , 18 , 19 ]. None of these studies, however, has reported long-term follow-up results in patients with different types of genetic deafness.…”

Section: Introductionmentioning

confidence: 99%

Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations

Tsou

et al. 2015

PLoS ONE

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ObjectivesTo investigate speech and language outcomes in children with cochlear implants (CIs) who had mutations in common deafness genes and to compare their performances with those without mutations.Study DesignProspective study.MethodsPatients who received CIs before 18 years of age and had used CIs for more than 3 years were enrolled in this study. All patients underwent mutation screening of three common deafness genes: GJB2, SLC26A4 and the mitochondrial 12S rRNA gene. The outcomes with CIs were assessed at post-implant years 3 and 5 using the Categories of Auditory Performance (CAP) scale, Speech Intelligibility Rating (SIR) scale, speech perception tests and language skill tests.ResultsForty-eight patients were found to have confirmative mutations in GJB2 or SLC26A4, and 123 without detected mutations were ascertained for comparison. Among children who received CIs before 3.5 years of age, patients with GJB2 or SLC26A4 mutations showed significantly higher CAP/SIR scores than those without mutations at post-implant year 3 (p = 0.001 for CAP; p = 0.004 for SIR) and year 5 (p = 0.035 for CAP; p = 0.038 for SIR). By contrast, among children who received CIs after age 3.5, no significant differences were noted in post-implant outcomes between patients with and without mutations (all p > 0.05).Conclusion GJB2 and SLC26A4 mutations are associated with good post-implant outcomes. However, their effects on CI outcomes may be modulated by the age at implantation: the association between mutations and CI outcomes is observed in young recipients who received CIs before age 3.5 years but not in older recipients.

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“…However, reports on the post-CI speech outcomes in patients with GJB2 mutations are controversial. Davcheva-Chakar, et al [ 14 ], reported results from 2 years’ follow-up after CI in children with GJB2 -related deafness and a control group of children with deafness of unknown etiology. Both groups showed similar improvements in speech perception scores after CI.…”

Section: Introductionmentioning

confidence: 99%

Long Term Speech Perception Outcomes of Cochlear Implantation in Gap Junction Protein Beta 2 Related Hearing Loss

et al. 2017

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Background and ObjectivesThe mutation of the gap junction protein beta 2 (GJB2) gene is the predominant cause of autosomal recessive non-syndromic hearing loss. The purpose of this study was to evaluate the speech perception outcome after cochlear implantation according to the presence of a GJB2 mutation.Subjects and MethodsDuring the period from March 2004 to February 2005, 38 patients underwent cochlear implantation at Asan Medical Center. Genetic factors and speech perception were evaluated in all subjects, and the patients were grouped according to the presence of a GJB2 mutation. The two groups were carefully matched according to the age at cochlear implantation. We analyzed four mutations in the GJB2 gene: 35delG, 167delT, 235delC, and E114G. Speech perception outcomes were measured using the open set, 1 and 2 syllables, the comprehension test, the Meaningful Auditory Integration Scale, the categories of auditory performance, and the Speech Intelligibility Rating scores. The evaluations were performed before the operation, 6 and 12 months thereafter, and then annually up to nine years after cochlear implantation.ResultsFifteen patients had bi-allelic GJB2 mutations (11 with E114G and 4 with 235delC), whereas the remaining 23 had wild type alleles. For the age-matched analysis, 14 patients were selected and divided into two groups of 7 subjects each: GJB2 mutation and no mutation (i.e., deafness of unknown origin). Overall, all patients showed improvement of speech perception outcome after cochlear implantation. There was no difference in the improvement between patients with and without GJB2 mutations at the 5-year and 9-year follow up. The pattern of improvement throughout the duration of the follow-up also showed no difference between the two groups.ConclusionsSimilar outcomes of speech perception are expected after cochlear implantation in pediatric patients with or without GJB2 mutation.

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Speech Perception Outcomes after Cochlear Implantation in Children with GJB2/DFNB1 associated Deafness

Cited by 9 publications

References 24 publications

Cochlear Implantation in a Patient with a Novel POU3F4 Mutation and Incomplete Partition Type-III Malformation

Cochlear Implantation in a Patient with a Novel POU3F4 Mutation and Incomplete Partition Type-III Malformation

Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations

Long Term Speech Perception Outcomes of Cochlear Implantation in Gap Junction Protein Beta 2 Related Hearing Loss

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