Cochlear Implant Outcomes and Genetic Mutations in Children with Ear and Brain Anomalies

• Published in: BioMed research international Vol. 2015; no. 2015; pp. 1 - 19
• Main Authors: Martini, Alessandro, Granieri, E., Aimoni, Claudia, Trevisi, Patrizia, Minazzi, Federica, Castiglione, Alessandro, Rosignoli, Monica, Busi, Micol, Calzolari, Ferdinando
• Format: Journal Article
• Language: English
• Published: Cairo, Egypt Hindawi Publishing Corporation 01-01-2015; John Wiley & Sons, Inc; Hindawi Limited
• Subjects: Adolescent; Anomalies; Biomedical research; Brain; Brain - abnormalities; Brain diseases; Care and treatment; Child; Child, Preschool; Children; Cochlear Implants; Connexin 26; Connexin 30; Connexins - genetics; DNA, Mitochondrial - genetics; Ear; Ear, Inner - abnormalities; Female; Follow-Up Studies; Gene mutations; Genetic aspects; Genetics; Health aspects; Hearing disorders in children; Hearing Loss, Sensorineural - diagnostic imaging; Hearing Loss, Sensorineural - genetics; Hearing Loss, Sensorineural - therapy; Humans; Implantation; Infant; Magnetic Resonance Imaging; Male; Membrane Transport Proteins - genetics; Mutation; Patient outcomes; Patients; Retrospective Studies; Tomography, X-Ray Computed
• ISSN: 2314-6133; 2314-6141; 2314-6141
• DOI: 10.1155/2015/696281

Background. Specific clinical conditions could compromise cochlear implantation outcomes and drastically reduce the chance of an acceptable development of perceptual and linguistic capabilities. These conditions should certainly include the presence of inner ear malformations or brain abnormalities. The aims of this work were to study the diagnostic value of high resolution computed tomography (HRCT) and magnetic resonance imaging (MRI) in children with sensorineural hearing loss who were candidates for cochlear implants and to analyse the anatomic abnormalities of the ear and brain in patients who underwent cochlear implantation. We also analysed the effects of ear malformations and brain anomalies on the CI outcomes, speculating on their potential role in the management of language developmental disorders. Methods. The present study is a retrospective observational review of cochlear implant outcomes among hearing-impaired children who presented ear and/or brain anomalies at neuroimaging investigations with MRI and HRCT. Furthermore, genetic results from molecular genetic investigations (GJB2/GJB6 and, additionally, in selected cases, SLC26A4 or mitochondrial-DNA mutations) on this study group were herein described. Longitudinal and cross-sectional analysis was conducted using statistical tests. Results. Between January 1, 1996 and April 1, 2012, at the ENT-Audiology Department of the University Hospital of Ferrara, 620 cochlear implantations were performed. There were 426 implanted children at the time of the present study (who were <18 years). Among these, 143 patients (64 females and 79 males) presented ear and/or brain anomalies/lesions/malformations at neuroimaging investigations with MRI and HRCT. The age of the main study group (143 implanted children) ranged from 9 months and 16 years (average = 4.4; median = 3.0). Conclusions. Good outcomes with cochlear implants are possible in patients who present with inner ear or brain abnormalities, even if central nervous system anomalies represent a negative prognostic factor that is made worse by the concomitant presence of cochlear malformations. Common cavity and stenosis of the internal auditory canal (less than 2 mm) are negative prognostic factors even if brain lesions are absent.