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

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

Cochlear implant outcomes and genetic mutations in children with ear and brain anomalies

Introduction. Cochlear implantation (CI) was a significant surgical innovation in the 20th century and represented the first artificial sensory organ that was applied in clinical medicine. Currently, CI is still one of the most effective medical procedures. Nonetheless, cochlear implantation in adults and children represents a controversial issue from an economic, clinical and ethical point of view, especially in specific clinical conditions that could compromise the CI outcome 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. Objectives. 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 analysed the effects of ear malformations and brain anomalies on the CI outcomes. Finally, we described the genetic mutations that we found in the study group. A control study group of implanted patients without ear and brain anomalies was obtained (virtually) from clinical and literature data for statistical purposes. Materials and 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 1 January 1996 and 1 April 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 &lt;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). The most common inner ear malformation is represented by an enlarged vestibular aqueduct; brain lesions are usually represented by white matter disorders. The 35delG in the GJB2 gene remain the most common mutation. Discussion and 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. Because the cochlear implantation is an invasive and expensive surgical procedure, the identification of predictive factors, even in hearing-impaired patients with cochlear and brain anomalies, is one of the most important goals, because it can help to guide rehabilitation programs that are tailored to meet the expectations of clinicians, teachers and parents. Our findings suggest that cochlear implantation (CI) is a safe and effective procedure even for patients with brain and inner ear abnormalities. Nonetheless, specific conditions, such as a common cavity, or in general, the absence of modiolus and the stenosis of the internal auditory canal, can increase the risk of post-operative complications and prevent the achievement of acceptable perceptual categories. For the aforementioned conditions, it is strictly recommended that cochlear implant indications, neuroimaging and surgery are performed in experienced hospitals

Cochlear Implantation in Auditory Neuropathy Spectrum Disorder

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The role of non-invasive camera technology for gait analysis in patients with vestibular disorders

Purpose of the study Current balance assessments performed in clinical settings do not provide objective measurements of gait. Further, objective gait analysis typically requires expensive, large and dedicated laboratory facilities. The aim of this pilot study was to develop and assess a low-cost, non-invasive camera technology for gait analysis, to assist the clinical assessment of patients with vestibular disorders. Materials and methods used This is a prospective, case-controlled study that was developed jointly by the local Neurotology Department and the Centre for Sports Engineering Research. Eligible participants were approached and recruited at the local Neurotology Clinic. The gait assessment included two repetitions of a straight 7-metre walk. The gait analysis system, comprised of a camera (P3215-V, Axis Communications, Sweden) and analysis software was installed in an appropriately sized clinic room. Parameters extruded were walking velocity, step velocity, step length, cadence and step count per meter. The effect sizes (ESB) were calculated using the MatLab and were considered large, medium or small if >0.8, 0.5 and 0.2 respectively. This study was granted ethical approval by the Coventry and Warwickshire Research Ethics Committee (15/WM/0448). Results Six patients with vestibular dysfunction (P group) and six age-matched healthy volunteers (V group) were recruited in this study. The average velocity of gait for P group was 1189.1 ± 69.0 mm·s-1 whereas for V group it was 1351.4 ± 179.2 mm·s-1, (ESB: -0.91). The mean step velocities were 1353.1 ± 591.8 mm·s-1 and 1434.0 ± 396.5 mm·s-1 for P and V groups respectively (ESB: -0.20). The average cadence was 2.3 ± 0.9 Hz and 2.0 ± 0.5 Hz for P and V groups respectively (ESB: 0.60). The mean step length was 620.5 ± 150.7 mm for the P group and 728.5 ± 86.0 mm for the V group (ESB = -1.26). The average step count per meter was 1.7 ± 0.3 and 1.4 ± 0.1 for P and V groups respectively (ESB = 3.38). Conclusion This pilot study used a low-cost, non-invasive camera technology to identify changes in gait characteristics. Further, gait measurements were obtained without the application of markers or sensors to patients (i.e. non-invasive), thus allowing current, clinical practice to be supplemented by objective measurement, with minimal procedural impact. Further work needs to be undertaken to refine the device and produce normative data. In the future, similar technologies could be used in the community setting, providing an excellent diagnostic and monitoring tool for balance patients