Case Series Outcomes of Cochlear Implantation in Children with Noonan Syndrome

Background and Objectives Hearing loss is a common complication associated with Noonan syndrome (NS), and the level of hearing loss for NS patients with sensorineural loss ranged from normal to severe. Additional insights into the outcome of cochlear implantation (CI) in children with NS with or without comorbidities are needed. Subjects and Method In this study, five patients with NS, four with a mutation in PTPN11 and one who tested negative in mutation screening, diagnosed with the clinical scoring system and underwent CI at ages ranging from 16 to 50 months were retrospectively reviewed. Patients were evaluated for auditory perception (Categories of Auditory Performance), speech production (Korean Version of the Ling's Stage), and language ability (Receptive and Expressive Vocabulary Test). Results In five of the children with NS, CI was performed without any complications. Three patients who received CI before 30 months of age showed outstanding outcomes. One patient who received CI at 50 months showed limited benefit. One patient who was diagnosed with developmental delay and cochlear nerve hypoplasia underwent CI at 28 months with poor outcome. Discussion Our report suggests that although the benefit may be influenced by comorbidities associated with NS or delay in hearing rehabilitation, profound hearing loss in patients with NS may be restored to normal levels in terms of auditory/speech perception and vocabulary/language development. The variable hearing outcomes also underscore the need for early screening and detection of profound hearing loss, and regular follow-up for hearing evaluation in patients with NS.