Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2026
Evaluating Cochlear Implantation Outcomes in Charcot-Marie-Tooth Disease: A Case Series Analysis of Genetic Profiles and Intervention Timing.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Hughes Sarah E, Mehta Anahita H, Stucken Emily Z
Аннотация
OBJECTIVE: Charcot-Marie-Tooth disease (CMT) is a hereditary neuropathy that may present with sensorineural hearing loss (SNHL) or auditory neuropathy spectrum disorder (ANSD). Cochlear implants (CIs) have been used to rehabilitate hearing loss in CMT, but their effectiveness remains poorly understood due to the central and peripheral neurological complexities of the disease.
STUDY DESIGN: Clinical capsule report.
PATIENTS: Two adult CMT patients and 2 pediatric CMT patients.
INTERVENTION: Cochlear implantation.
MAIN OUTCOME MEASURES: Preoperative clinical profiles and postoperative auditory performance.
RESULTS: Case 1: A 60-year-old woman with bilateral ANSD and comorbid multiple sclerosis (MS) achieved significant speech perception improvement (CNC: 8%-68%, AzBio: 64%) 1 year post-CI. Case 2: A 20-month-old boy with GJB1 -associated CMT1X and developmental delays exhibited rapid auditory gains (MLNT: 100%) following CI. Case 3: A 12-year-old boy with AIFM1 -related ANSD and mitochondrial dysfunction achieved moderate speech recognition (CNC: 56%, AzBio: 75%) but remained limited in noisy environments. Case 4: A 32-year-old man with PRPS1 -associated CMTX5 and profound prelingual SNHL showed improved sound awareness (20-30 dB HL) post-CI but had no speech perception gains due to prolonged auditory deprivation.
CONCLUSIONS: Cochlear implantation in CMT patients demonstrates variable but meaningfully beneficial auditory outcomes, with early intervention yielding the most favorable results. A personalized approach incorporating genetic profiling, tailored rehabilitation strategies, and setting realistic patient expectations is essential to optimizing outcomes.
STUDY DESIGN: Clinical capsule report.
PATIENTS: Two adult CMT patients and 2 pediatric CMT patients.
INTERVENTION: Cochlear implantation.
MAIN OUTCOME MEASURES: Preoperative clinical profiles and postoperative auditory performance.
RESULTS: Case 1: A 60-year-old woman with bilateral ANSD and comorbid multiple sclerosis (MS) achieved significant speech perception improvement (CNC: 8%-68%, AzBio: 64%) 1 year post-CI. Case 2: A 20-month-old boy with GJB1 -associated CMT1X and developmental delays exhibited rapid auditory gains (MLNT: 100%) following CI. Case 3: A 12-year-old boy with AIFM1 -related ANSD and mitochondrial dysfunction achieved moderate speech recognition (CNC: 56%, AzBio: 75%) but remained limited in noisy environments. Case 4: A 32-year-old man with PRPS1 -associated CMTX5 and profound prelingual SNHL showed improved sound awareness (20-30 dB HL) post-CI but had no speech perception gains due to prolonged auditory deprivation.
CONCLUSIONS: Cochlear implantation in CMT patients demonstrates variable but meaningfully beneficial auditory outcomes, with early intervention yielding the most favorable results. A personalized approach incorporating genetic profiling, tailored rehabilitation strategies, and setting realistic patient expectations is essential to optimizing outcomes.