title: Cochlear Implant Outcomes and Genetic Mutations in Children with Ear and Brain Anomalies.
abstract: 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.
authors.affiliation: Department of Medical & Surgical Disciplines of Communication and Behavior, University Hospital of Ferrara, Via Fossato di Mortara 64/A, 44121 Ferrara, Italy.
authors.forename: Micol
authors.initials: M
authors.lastname: Busi
authors.affiliation: ENT & Audiology Department, University Hospital of Ferrara, Via Aldo Moro 8, 44124 Ferrara, Italy.
authors.forename: Monica
authors.initials: M
authors.lastname: Rosignoli
authors.affiliation: Department of Neurosciences, Complex Operative Unit of Otorhinolaryngology and Otosurgery, University Hospital of Padua, Via Giustiniani 2, 35128 Padua, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Castiglione
authors.affiliation: ENT & Audiology Department, University Hospital of Ferrara, Via Aldo Moro 8, 44124 Ferrara, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Minazzi
authors.affiliation: Department of Neurosciences, Complex Operative Unit of Otorhinolaryngology and Otosurgery, University Hospital of Padua, Via Giustiniani 2, 35128 Padua, Italy.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Trevisi
authors.affiliation: ENT & Audiology Department, University Hospital of Ferrara, Via Aldo Moro 8, 44124 Ferrara, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Aimoni
authors.affiliation: Neuroradiology Service, University Hospital of Udine, Piazzale Santa Maria della Misericordia 15, 33100 Udine, Italy.
authors.forename: Ferdinando
authors.initials: F
authors.lastname: Calzolari
authors.affiliation: Neurological Clinic, University Hospital of Ferrara, Via Aldo Moro 8, 44124 Ferrara, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: Granieri
authors.affiliation: Department of Neurosciences, Complex Operative Unit of Otorhinolaryngology and Otosurgery, University Hospital of Padua, Via Giustiniani 2, 35128 Padua, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Martini
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D001921:Brain / Q000002:abnormalities; D003054:Cochlear Implants; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics; D007758:Ear, Inner / Q000002:abnormalities; D005500:Follow-Up Studies; D006319:Hearing Loss, Sensorineural / Q000000981:diagnostic imaging / Q000235:genetics / Q000628:therapy; D008279:Magnetic Resonance Imaging; D026901:Membrane Transport Proteins / Q000235:genetics; D009154:Mutation; D012189:Retrospective Studies; D000076988:Sulfate Transporters; D014057:Tomography, X-Ray Computed
chemical_list: D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins; D004272:DNA, Mitochondrial; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters