Observational studyEuropean 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 Surgery2013
The effect of GJB2 and SLC26A4 gene mutations on rehabilitative outcomes in pediatric cochlear implant patients.
Observational study in 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, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 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
- Etiology-Driven Personalized Cochlear Implantation: Implications for Electrode Choice, Timing, and Outcomes.Journal of personalized medicine · 2026Review
- The role ofFrontiers in molecular neuroscience · 2024Review
- Spectrum of genetic variants in bilateral sensorineural hearing loss.Frontiers in genetics · 2024Article
- Cochlear Health and Cochlear-implant Function.Journal of the Association for Research in Otolaryngology : JARO · 2023Review
- Precision Medicine Approach to Cochlear Implantation.Clinical and experimental otorhinolaryngology · 2022Review
- Predictors of Early Language Outcomes in Children with Connexin 26 Hearing Loss across Three Countries.Children (Basel, Switzerland) · 2022Article
- The Burden and Benefits of Knowledge: Ethical Considerations Surrounding Population-Based Newborn Genome Screening for Hearing.International journal of neonatal screening · 2022Article
- [Evaluation of hearing and speech rehabilitation after cochlear implantation in children with Waardenburg syndrome].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2022Article
- A novel SLC26A4 splicing mutation identified in two deaf Chinese twin sisters with enlarged vestibular aqueducts.Molecular genetics & genomic medicine · 2020Article
- Future directions for screening and treatment in congenital hearing loss.Precision clinical medicine · 2020Article
- Auditory Detection Thresholds and Cochlear Resistivity Differ Between Pediatric Cochlear Implant Listeners With Enlarged Vestibular Aqueduct and Those With Connexin-26 Mutations.American journal of audiology · 2020Article
- Genotype-Phenotype Correlation for Predicting Cochlear Implant Outcome: Current Challenges and Opportunities.Frontiers in genetics · 2020Review
- Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China.American journal of human genetics · 2019Article
- Long Term Speech Perception Outcomes of Cochlear Implantation in Gap Junction Protein Beta 2 Related Hearing Loss.Journal of audiology & otology · 2017Article
- Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population.Scientific reports · 2017Article
- A Comprehensive Study on the Etiology of Patients Receiving Cochlear Implantation With Special Emphasis on Genetic Epidemiology.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2016Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To analyze the treatment outcomes in pediatric cochlear implant patients with mutations in GJB2 or SLC26A4 and to determine these mutations' impact on rehabilitative outcomes. The study included 41 children who received unilateral cochlear implantations. Fifteen of these children had GJB2-related deafness, 10 had SLC26A4-related deafness, and 16 had deafness of unknown etiology. Speech perception and language development evaluations, including the Meaningful Auditory Integration Scale (MAIS), categories of auditory performance (CAP), speech intelligibility rating (SIR) and babbling spurt, were conducted before and after the implantation. Better results for the GJB2 group (vs. the control group) were observed regarding MAIS, CAP and SIR at 24 months after implantation (P < 0.05). The performance of GJB2 group was better than SLC26A4 group, expressed by a significant difference in the variance of CAP and SIR at 24 months postoperatively (P < 0.05). A trend towards earlier babbling spurt onset could be observed for the GJB2 group, intergroup comparison did not reveal any significant difference among the three groups (P > 0.05). The SLC26A4 group performed better than the control group at 12 and 24 months postoperatively, although without a statistically significant difference (P > 0.05). The GJB2 gene mutations had a significantly positive impact on the outcome of cochlear implantation. Patients with SLC26A4-related deafness were shown to benefit from cochlear implantation.
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