ArticlePloS one2015
Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 54 citations in OpenAlex.
- Outcomes of Cochlear Implantation in Patients with Pendred syndrome: A Systematic Review and Narrative Synthesis.The journal of international advanced otology · 2020Pooled it
- GJB2-Related Hearing Loss: Genotype-Phenotype Correlations, Natural History, and Emerging Therapeutic Strategies.International journal of molecular sciences · 2026Review
- Comparison of One-Year auditory rehabilitation outcomes by etiology in pediatric patients with bilateral severe hearing loss (70-90 dB): enlarged vestibular aqueduct vs. Other causes.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2026Article
- [Expert consensus on prognostic evaluation of cochlear implantation in hereditary hearing loss].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Article
- Next-Generation Sequencing of Chinese Children with Congenital Hearing Loss Reveals Rare and Novel Variants in Known and Candidate Genes.Biomedicines · 2024Article
- Abnormal Innervation, Demyelination, and Degeneration of Spiral Ganglion Neurons as Well as Disruption of Heminodes are Involved in the Onset of Deafness in Cx26 Null Mice.Neuroscience bulletin · 2024Article
- Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants.Molecular genetics & genomic medicine · 2024Article
- Chloride/Multiple Anion Exchanger SLC26A Family: Systemic Roles of SLC26A4 in Various Organs.International journal of molecular sciences · 2024Review
- Application of Genetic Information to Cochlear Implantation in Clinical Practice.Journal of audiology & otology · 2024Article
- Multicolor melting curve analysis discloses high carrier frequency of hearing loss-associated variants among neonates in Jiangsu province.Molecular genetics & genomic medicine · 2024Observational
- Cochlear Implant Insertion Routes and Intra-operative Electrophysiological Measurements: A Retrospective Analysis at a Tertiary Care Centre.Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2024Article
- The role ofFrontiers in molecular neuroscience · 2024Review
- Preservation of developmental spontaneous activity enables early auditory system maturation in deaf mice.PLoS biology · 2023Article
- Precision Medicine Approach to Cochlear Implantation.Clinical and experimental otorhinolaryngology · 2022Review
- Full etiologic spectrum of pediatric severe to profound hearing loss of consecutive 119 cases.Scientific reports · 2022Article
- Clinical significance of the neural response telemetric thresholds in Mandarin-speaking cochlear implant patients.Journal of the Chinese Medical Association : JCMA · 2022Article
- A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family.BMC medical genomics · 2022Article
- Article
- A novel SLC26A4 splicing mutation identified in two deaf Chinese twin sisters with enlarged vestibular aqueducts.Molecular genetics & genomic medicine · 2020Article
- An integrative approach for pediatric auditory neuropathy spectrum disorders: revisiting etiologies and exploring the prognostic utility of auditory steady-state response.Scientific reports · 2020Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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).
conclusionGJB2 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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