Cochlear implantation using a custom guide catheter in 14 patients with incomplete partition type <scp>III</scp>

Tian, Hao; Wang, L.; Gao, Fusheng; Liang, Wenqi; Peng, Kevin A.

doi:10.1111/coa.13146

Cited by 9 publications

(23 citation statements)

References 11 publications

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“…Choi et al [ 25 ] and Smeds et al [ 22 ] reported that patients with POU3F4 variants had improved speech scores after implantation but the scores were still lower than those of age-matched cohorts without apparent cochlear anomalies. These results differ from those reported by Tian et al [ 27 ] and Kang et al [ 28 ]. To our knowledge, the present study was based on the largest cohort of patients and families with genetically confirmed IP type III, with 11 patients (13 ears) undergoing CI.…”

Section: Discussioncontrasting

confidence: 99%

Genetic Load of Alternations of Transcription Factor Genes in Non-Syndromic Deafness and the Associated Clinical Phenotypes: Experience from Two Tertiary Referral Centers

Han

Lee

et al. 2022

Biomedicines

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Sensorineural hearing loss is one of the most common inherited sensory disorders. Functional classifications of deafness genes have shed light on genotype- and mechanism-based pharmacological approaches and on gene therapy strategies. In this study, we characterized the clinical phenotypes and genotypes of non-syndromic deafness caused by transcription factor (TF) gene variants, one of the functional classifications of genetic hearing loss. Of 1280 probands whose genomic DNA was subjected to molecular genetic testing, TF genes were responsible for hearing loss in 2.6%. Thirty-three pathogenic variants, including nine novel variants, accounting for non-syndromic deafness were clustered in only four TF genes (POU3F4, POU4F3, LMX1A, and EYA4), which is indicative of a narrow molecular etiologic spectrum of TF genes, and the functional redundancy of many other TF genes, in the context of non-syndromic deafness. The audiological and radiological characteristics associated with the four TF genes differed significantly, with a wide phenotypic spectrum. The results of this study reveal the genetic load of TF gene alterations among a cohort with non-syndromic hearing loss. Additionally, we have further refined the clinical profiles associated with TF gene variants as a basis for a personalized, genetically tailored approach to audiological rehabilitation.

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Section: Discussioncontrasting

confidence: 99%

Genetic Load of Alternations of Transcription Factor Genes in Non-Syndromic Deafness and the Associated Clinical Phenotypes: Experience from Two Tertiary Referral Centers

Han

Lee

et al. 2022

Biomedicines

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“…The majority (n = 54) were male, though 2 studies reported female patients (n = 7) diagnosed with DFNX2 on the basis of heterozygous POU3F4 alteration 6 or evidence of incomplete partition type III on imaging. 22 All patients demonstrated severe-profound sensorineural loss with prelingual deafness onset. Two sources 20,23 did not specify their radiologic criteria for DFNX2 diagnosis, while all the remaining studies explicitly stated that absence of the bony modiolus and incomplete separation of basal turns of the cochlea from the IAC on computed tomography defined their patient population.…”

Section: Resultsmentioning

confidence: 98%

Systematic Review of Outcomes After Cochlear Implantation in Children With X‐Linked Deafness‐2

Smith

El-Kashlan²,

Darr³

et al. 2020

Otolaryngol.--head neck surg.

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Objective Outcomes following cochlear implantation in children with X-linked deafness-2 are variable, resulting in challenges in appropriate preoperative counseling. To address this uncertainty, we performed a systematic review and synthesis of the literature on audiologic and speech outcomes after cochlear implantation in these patients to inform prognostic counseling. Data Sources PubMed, Embase, and Cochrane Library were queried for articles published between January 2000 and July 2019. Review Methods We performed a systematic review of all studies published between 2000 and 2019 that reported on (1) children with confirmed X-linked deafness-2 undergoing cochlear implantation and (2) formal assessment of hearing and/or speech capabilities postimplantation. Results Our initial database search yielded 313 articles. Fourteen articles met inclusion criteria. These studies reported on 61 children with X-linked deafness-2 who underwent implantation at a wide age range (1-29 years) for severe-profound sensorineural hearing loss of prelingual onset. The mean follow-up duration after implant activation was 32 months (range, 12-61). Outcome domains assessed at follow-up were heterogeneous, though each study employed at least 1 assessment of hearing (eg, pure tone audiometry), speech perception (eg, Early Speech Perception Test), or auditory perception (eg, Categories of Auditory Perception scores). In 10 of 14 studies, cochlear implantation afforded significant improvement in hearing and speech capabilities relative to preoperative performance or as compared with age-matched, normal-hearing controls. Conclusion The majority of studies demonstrate that cochlear implantation provides improvements in hearing and speech performance in patients with X-linked deafness-2. This information is valuable for decision making regarding cochlear implantation in these patients.

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“…Recent work has shown that speech perception of children with IP3 malformation is in line with those with normal cochlear anatomy at 1 and 3 years ( Alballaa et al 2019 ); however, programming strategies were difficult. While others have reported poorer outcomes and hypothesized that this outcome is due to poor consonant recognition, where vowel recognition is good ( Tian et al 2018 ). We have previously reported similar results ( Smeds et al 2017 ), and expanded this in the current study, where children with IP3 malformation exhibited worse speech recognition despite aided hearing thresholds comparable to those of children with a normal cochlea.…”

Section: Discussionmentioning

confidence: 99%

“…The reported hearing and language outcomes vary from quite poor to results in line with pediatric CI recipients without inner ear malformation. Tian et al (2018) recently reported hearing outcomes in 14 patients with IP3 malformation and compared them to a control group with normal cochlea anatomy. Auditory thresholds were similar between groups; however, those with cochlear malformation exhibited poorer consonant recognition after 1 year.…”

Section: Introductionmentioning

confidence: 99%

X-linked Malformation Deafness: Neurodevelopmental Symptoms Are Common in Children With IP3 Malformation and Mutation in POU3F4

et al. 2021

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Cochlear implantation using a custom guide catheter in 14 patients with incomplete partition type III

Cited by 9 publications

References 11 publications

Genetic Load of Alternations of Transcription Factor Genes in Non-Syndromic Deafness and the Associated Clinical Phenotypes: Experience from Two Tertiary Referral Centers

Genetic Load of Alternations of Transcription Factor Genes in Non-Syndromic Deafness and the Associated Clinical Phenotypes: Experience from Two Tertiary Referral Centers

Systematic Review of Outcomes After Cochlear Implantation in Children With X‐Linked Deafness‐2

X-linked Malformation Deafness: Neurodevelopmental Symptoms Are Common in Children With IP3 Malformation and Mutation in POU3F4

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