title: X-linked Malformation and Cochlear Implantation.
abstract: To evaluate if cochlear implantation is safe and constitutes an option for hearing rehabilitation of children with x-linked inner ear malformation.
  
  
  
  Retrospective patient review in combination with a multidisciplinary follow-up.
  
  
  
  Tertiary referral hospital and cochlear implant program.
  
  
  
  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.
  
  
  
  Cochlear implantation.
  
  
  
  Surgical events, intraoperative measures and electrical stimulation levels, hearing and spoken language abilities.
  
  
  
  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.
  
  
  
  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.
authors: *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.
authors: Henrik
authors: H
authors: Smeds
authors: Jeremy
authors: J
authors: Wales
authors: Filip
authors: F
authors: Asp
authors: Ulrika
authors: U
authors: Löfkvist
authors: Babak
authors: B
authors: Falahat
authors: Britt-Marie
authors: BM
authors: Anderlid
authors: Lena
authors: L
authors: Anmyr
authors: Eva
authors: E
authors: Karltorp
mesh_terms: D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D003051:Cochlea / Q000601:surgery; D019929:Cochlear Implantation / Q000009:adverse effects / Q000379:methods; D003054:Cochlear Implants; D007758:Ear, Inner / Q000002:abnormalities / Q000601:surgery; D005260:Female; D040181:Genetic Diseases, X-Linked; D006319:Hearing Loss, Sensorineural / Q000151:congenital* / Q000235:genetics / Q000601:surgery*; D006320:Hearing Tests; D006801:Humans; D008297:Male; D009154:Mutation; D050809:POU Domain Factors / Q000235:genetics*; D011183:Postoperative Complications / Q000453:epidemiology; D012189:Retrospective Studies; D016896:Treatment Outcome
chemical_list: D050809:POU Domain Factors; C091774:POU3F4 protein, human