High homogeneity in auditory outcome of pediatric CI-patients with mutations in Gap-Junction-Protein Beta2

Reinert, Julia; Honegger, F.; Gürtler, Nicolas

doi:10.1016/j.ijporl.2010.04.002

Cited by 16 publications

(18 citation statements)

References 27 publications

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“…Accordingly, the presence of GJB2 mutation does not affect language development and speech perception [18][19][20][21]. It was shown that there is no inherent advantage in harboring connexin mutations on speech perception outcome when both groups were matched carefully with respect to the factors known to confound the results like age at implantation, duration of implant use, mode of communication, and hearing thresholds before the implantation [5].…”

Section: Discussionmentioning

confidence: 99%

Association of GJB2 gene mutation with cochlear implant performance in genetic non-syndromic hearing loss

Karamert

Bayazıt

Altınyay

et al. 2011

International Journal of Pediatric Otorhinolaryngology

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Section: Discussionmentioning

confidence: 99%

Association of GJB2 gene mutation with cochlear implant performance in genetic non-syndromic hearing loss

Karamert

Bayazıt

Altınyay

et al. 2011

International Journal of Pediatric Otorhinolaryngology

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“… a GJB2 references include: (Angeli et al, 2011; Arndt et al, 2010; Bauer et al, 2003; Chora et al, 2010; Choung et al, 2008; Connell et al, 2007; Cullen et al, 2004; Dahl et al, 2003; Dalamon et al, 2009; Daneshi et al, 2011; Fukushima et al, 2002; Gerard et al, 2010; Green et al, 2002; Karamert et al, 2011; Lustig et al, 2004; Matsushiro et al, 2002; Reinert, Honegger & Gurtler, 2010; Sinnathuray et al, 2004a; Sinnathuray et al, 2004b; Taitelbaum-Swead et al, 2006; Weegerink et al, 2011a; Wrobel et al, 2008; Wu et al, 2008; Wu et al, 2011a; Yoshikawa et al, 2011. …”

Section: Figurementioning

confidence: 99%

Prediction of cochlear implant performance by genetic mutation: The spiral ganglion hypothesis

et al. 2012

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Background Up to 7% of patients with severe-to-profound deafness do not benefit from cochlear implantation. Given the high surgical implantation and clinical management cost of cochlear implantation (> $1 million lifetime cost), prospective identification of the worst performers would reduce unnecessary procedures and healthcare costs. Because cochlear implants bypass the membranous labyrinth but rely on the spiral ganglion for functionality, we hypothesize that cochlear implant (CI) performance is dictated in part by the anatomic location of the cochlear pathology that underlies the hearing loss. As a corollary, we hypothesize that because genetic testing can identify sites of cochlear pathology, it may be useful in predicting CI performance. Methods 29 adult CI recipients with idiopathic adult-onset severe-to-profound hearing loss were studied. DNA samples were subjected to solution-based sequence capture and massively parallel sequencing using the OtoSCOPE® platform. The cohort was divided into three CI performance groups (good, intermediate, poor) and genetic causes of deafness were correlated with audiometric data to determine whether there was a gene-specific impact on CI performance. Results The genetic cause of deafness was determined in 3/29 (10%) individuals. The two poor performers segregated mutations in TMPRSS3, a gene expressed in the spiral ganglion, while the good performer segregated mutations in LOXHD1, a gene expressed in the membranous labyrinth. Comprehensive literature review identified other good performers with mutations in membranous labyrinth-expressed genes; poor performance was associated with spiral ganglion-expressed genes. Conclusions Our data support the underlying hypothesis that mutations in genes preferentially expressed in the spiral ganglion portend poor CI performance while mutations in genes expressed in the membranous labyrinth portend good CI performance. Although the low mutation rate in known deafness genes in this cohort likely relates to the ascertainment characteristics (postlingual hearing loss in adult CI recipients), these data suggest that genetic testing should be implemented as part of the CI evaluation to test this association prospectively.

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“…Patients were implanted with the same type of device, by the same experienced surgeon, and had their speech processor activated before 2 nd birthday; they also received the same rehabilitation program and their auditory development was observed for 18 months after CI activation. The literature already indicates that etiological homogeneity, such as mutations in the DFNB1 locus, have a predictive value for cochlear implantation outcome [6,7,[10][11][12]. Following this lead, our analyses focused on the subgroup of children with DFNB1-related deafness, which was further divided into patients with CI activated before and after 1 year of life.…”

Section: Discussionmentioning

confidence: 99%

“…For clinicians, it is di cult to preoperatively predict how well an individual patient will perform with a CI. Only a part of the variance in performance can be accounted for by known factors, such as age of implantation, etiology of hearing loss, existence of comorbidities, and others [1][2][3][4][5][6][7][8][9][10][11][12].…”

Section: Introduction 11 Congenital Deafness Treatment With Cochlear Implantation and Variability Of Its Outcomementioning

confidence: 99%

Prospective cohort study reveals MMP-9, a neuroplasticity regulator, as a prediction marker of cochlear implantation outcome in prelingual deafness treatment.

Matusiak

Oziębło

Ołdak

et al. 2021

Preprint

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Because of vast variability of cochlear implantation outcomes in prelingual deafness treatment, identification of good and poor performers remains a challenging task. To address this issue, we investigated genetic variants of matrix metalloproteinase 9 (MMP9) and brain derived neurotrophic factor (BDNF) and plasma levels of MMP-9, BDNF, and pro-BDNF that have all been implicated in neuroplasticity after sensory deprivation in the auditory pathway. We recruited a cohort of prelingually deaf children, all implanted before the age of 2, and carried out a prospective observation (N = 61). Next, we analyzed the association between (i) functional MMP9 (rs20445, rs1839242, rs2234681) and BDNF (rs6265) gene variants (and their respective protein levels) and (ii) the child’s auditory development as measured with the LittlEARS Questionnaire (LEAQ) before cochlear implant (CI) activation and at 8 and 18 months post-CI activation. Statistical analyses revealed that the plasma level of MMP-9 measured at implantation in prelingually deaf children was significantly correlated with the LEAQ score 18 months after CI activation. In the subgroup of DFNB1-related deafness (N = 40), rs3918242 of MMP9 was significantly associated with LEAQ score at 18 months after CI activation; also, according to a multiple regression model, the ratio of plasma levels of pro-BDNF/BDNF measured at implantation was a significant predictor of overall LEAQ score at follow-up. In the subgroup with DFNB1-related deafness, who had CI activation after 1 year old (N = 22), a multiple regression model showed that rs3918242 of MMP9 was a significant predictor of overall LEAQ score at follow-up.

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High homogeneity in auditory outcome of pediatric CI-patients with mutations in Gap-Junction-Protein Beta2

Cited by 16 publications

References 27 publications

Association of GJB2 gene mutation with cochlear implant performance in genetic non-syndromic hearing loss

Association of GJB2 gene mutation with cochlear implant performance in genetic non-syndromic hearing loss

Prediction of cochlear implant performance by genetic mutation: The spiral ganglion hypothesis

Prospective cohort study reveals MMP-9, a neuroplasticity regulator, as a prediction marker of cochlear implantation outcome in prelingual deafness treatment.

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