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Published on: February 29, 2020
X-linked Malformation and Cochlear Implantation
Henrik Smeds1, Jeremy Wales, Filip Asp
1*Department of Clinical Science, Intervention and Technology, Karolinska Institutet †Department of Otolaryngology, Karolinska University Hospital, Stockholm ‡Department of Signals and Systems, Chalmers University of Technology, Gothenburg, Sweden §Department of Special Needs Education, University of Oslo, Oslo, Norway ||Department of Radiology, Karolinska University Hospital ¶Department of Molecular Medicine and Surgery, Karolinska Institutet **Department of Clinical Genetics ††Department of Social Work in Health, Karolinska University Hospital, Stockholm, Sweden.
Insights
Cochlear implantation is safe for children with X-linked inner ear malformations. While hearing and speech develop, outcomes are generally lower than in typical pediatric cochlear implant recipients.
Area of Science:
- Otolaryngology
- Genetics
- Pediatric Audiology
Background:
- X-linked inner ear malformation, often associated with POU3F4 mutations, causes severe-profound mixed hearing loss.
- Incomplete Partition type 3 is a specific cochlear malformation observed in these children.
Purpose of the Study:
- To assess the safety and efficacy of cochlear implantation (CI) for hearing rehabilitation in children with X-linked inner ear malformations.
- To evaluate the impact of CI on hearing and spoken language development in this specific pediatric population.
Main Methods:
- Retrospective review of ten children with Incomplete Partition type 3 cochlear malformation who underwent cochlear implantation between 2007 and 2015.
- Multidisciplinary follow-up assessing surgical events, intraoperative findings, and postoperative hearing and spoken language abilities.
Main Results:
- Fifteen cochlear implantations were performed with no severe complications; minor issues like electrode repositioning and cerebrospinal fluid leak were managed successfully.
- Nine out of ten children showed higher postoperative electrical stimulation levels compared to typical CI patients.
- Eight children achieved varying degrees of spoken language development, but speech recognition scores were below average for pediatric CI recipients.
Conclusions:
- Cochlear implantation is a safe surgical option for children with severe-profound mixed hearing loss due to POU3F4 mutation-related inner ear malformations.
- Children with this condition can develop hearing and spoken language skills following CI, although the overall outcomes may be less favorable compared to other pediatric cases.
Objective:
To evaluate if cochlear implantation is safe and constitutes an option for hearing rehabilitation of children with x-linked inner ear malformation.
Study Design:
Retrospective patient review in combination with a multidisciplinary follow-up.
Setting:
Tertiary referral hospital and cochlear implant program.
Patients:
Ten children with severe-profound mixed hearing loss and radiological findings consistent with Incomplete Partition type 3 cochlear malformation received cochlear implants during the years 2007 to 2015. Nine of the children had a mutation affecting the gene POU3F4 on Xq21.
Intervention:
Cochlear implantation.
Main Outcome Measures:
Surgical events, intraoperative measures and electrical stimulation levels, hearing and spoken language abilities.
Results:
In all, 15 cochlear implantations were performed. In three cases the electrode was found to be in the internal auditory canal on intraoperative x-ray and repositioned successfully. One child had a postoperative rhinorrhea confirmed to be cerebrospinal fluid but this resolved on conservative treatment. No severe complications occurred. Postoperative electrical stimulation levels were higher in 9 of 10 children, as compared with typically reported average levels in patients with a normal cochlea. Eight patients developed spoken language to various degrees while two were still at precommunication level. However, speech recognition scores were lower than average pediatric cases.
Conclusion:
Cochlear implantation is a safe procedure for children with severe-profound mixed hearing loss related to POU3F4 mutation inner ear malformation. The children develop hearing and spoken language but outcome is below average for pediatric CI recipients.
