Smeds Henrik, Wales Jeremy, Asp Filip, Löfkvist Ulrika, Falahat Babak, Anderlid Britt-Marie, Anmyr Lena, Karltorp Eva
*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.
Otol Neurotol. 2017 Jan;38(1):38-46. doi: 10.1097/MAO.0000000000001253.
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.
评估人工耳蜗植入对于患有X连锁内耳畸形的儿童是否安全，以及是否是听力康复的一种选择。
回顾性患者评估并结合多学科随访。
三级转诊医院及人工耳蜗植入项目。
2007年至2015年期间，10名患有重度至极重度混合性听力损失且影像学检查结果符合不完全分隔3型耳蜗畸形的儿童接受了人工耳蜗植入。其中9名儿童存在影响Xq21上POU3F4基因的突变。
人工耳蜗植入。
手术事件、术中测量及电刺激水平、听力和口语能力。
共进行了15次人工耳蜗植入手术。3例术中X线检查发现电极位于内耳道，经成功重新定位。1名儿童术后出现经证实为脑脊液鼻漏的情况，但经保守治疗后痊愈。未发生严重并发症。与典型报道的正常耳蜗患者平均水平相比，10名儿童中有9名术后电刺激水平较高。8名患者不同程度地发展出了口语能力，2名仍处于交流前水平。然而，言语识别分数低于儿科平均病例。
对于患有与POU3F4基因突变相关的重度至极重度混合性听力损失内耳畸形的儿童，人工耳蜗植入是一种安全的手术。这些儿童能够发展听力和口语能力，但结果低于接受人工耳蜗植入的儿科患者平均水平。
