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• W2022353513 abstract "In Brief Objectives: Jervell and Lange-Nielsen syndrome (JLNS) is a rare cause of autosomal recessive inherited deafness. JLNS patients are candidates for cochlear implantation, and represent a group that needs special attention and precautions. The aim of this article is to draw some guidelines for dealing with these patients, and to emphasize the importance of electrocardiography (ECG) screening of congenitally deaf patients. A probable vestibular dysfunction is also discussed. Design: Eight of 273 implanted children (2.9%) at Rikshospitalet-Radiumhospitalet Medical Center, Oslo, Norway have been diagnosed with JLNS. All the children were evaluated with ECG, six of them before cochlear implantation. Auditory perception was evaluated with the littlEARS Auditory Questionnaire, or with a test battery developed at Rikshospitalet-Radiumhospitalet Medical Center. DNA sequencing was used to screen for mutations in the genes KCNQ1 and KCNE1. The cases are presented and discussed in a retrospective case review. Results: Two of the children are dead. The corrected QT (QTc) interval in the ECG was markedly prolonged in all the children (median QTc, 0.59 sec; range, 0.53–0.65). Six children have more than 1 yr experience with their cochlear implant. Four of them are performing average or above compared with the other implanted children. All the children have mutations in the KCNQ1 gene. Six of our patients have delayed gross motor development, and the remaining two are markedly delayed compared with their older siblings. Conclusions: Cochlear implantation can be performed safely and with good results in children with JLNS, but requires knowledge of the diagnosis and necessary precautions have to be taken. ECG should be taken for all children with congenital deafness, preferably before exposure to strong sound stimuli. Vestibular dysfunction seems to be a part of JLNS, but this needs further investigation. Jervell and Lange-Nielsen syndrome (JNLS) is a rare, potentially fatal autosomal recessive disorder, characterized by congenital deafness and prolonged QT interval in the electrocardiogram (ECG). Patients with JLNS are prone to cardiac arrhythmias, syncope and sudden death. The purpose of this article is to increase the awareness of this rare disease, present our experience with eight cochlear implanted children with JLNS, and to emphasize the importance of ECG screening of congenitally deaf children. Cochlear implantation can be performed safely and with good results in children with JLNS, but requires knowledge of the diagnosis and that necessary precautions have to be taken." @default.
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• W2022353513 date "2008-04-01" @default.
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• W2022353513 title "Jervell and Lange-Nielsen Syndrome in Norwegian Children: Aspects Around Cochlear Implantation, Hearing, and Balance" @default.
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• W2022353513 doi "https://doi.org/10.1097/aud.0b013e3181645393" @default.
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