Laura Cavallé

Electric acoustic stimulation of the auditory system: results of a multi-centre investigation.

Conclusion. A high rate of hearing preservation during cochlear implantation for electric acoustic stimulation (EAS) is possible, even when surgery is conducted by a number of different surgeons. Objectives. This study aimed to determine the degree of hearing preservation using surgery for EAS in a European multi-centre clinical investigation. It also aimed to demonstrate the effect of EAS in individuals with residual low frequency hearing, both on speech perception and on subjective quality of life measures. Patients and methods. Eighteen patients with profound high frequency hearing loss were recruited in five participating European centres. Subjects were assessed based on an audiologic test battery, as well as on a subjective hearing aid benefit questionnaire. Each subject underwent attempted hearing preservation cochlear implantation using the MED-EL C40+ device with a Medium electrode. Residual ipsilateral hearing and speech discrimination abilities were assessed at defined intervals up to 12 months after the combined electric-acoustic mode was introduced. Results. Results showed that some degree of hearing preservation was possible in 15718 patients. All subjects showed statistically significant benefit on all three speech perception tests over time. These significant benefits were also reflected in the subjective benefit outcomes.

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy

Autosomal recessive nonsyndromic hearing impairment (NSHI) is a heterogeneous condition, for which 53 genetic loci have been reported, and 29 genes have been identified to date. One of these, OTOF, encodes otoferlin, a membrane‐anchored calcium‐binding protein that plays a role in the exocytosis of synaptic vesicles at the auditory inner hair cell ribbon synapse. We have investigated the prevalence and spectrum of deafness‐causing mutations in the OTOF gene. Cohorts of 708 Spanish, 83 Colombian, and 30 Argentinean unrelated subjects with autosomal recessive NSHI were screened for the common p.Gln829X mutation. In compound heterozygotes, the second mutant allele was identified by DNA sequencing. In total, 23 Spanish, two Colombian and two Argentinean subjects were shown to carry two mutant alleles of OTOF. Of these, one Colombian and 13 Spanish subjects presented with auditory neuropathy. In addition, a cohort of 20 unrelated subjects with a diagnosis of auditory neuropathy, from several countries, was screened for mutations in OTOF by DNA sequencing. A total of 11 of these subjects were shown to carry two mutant alleles of OTOF. In total, 18 pathogenic and four neutral novel alleles of the OTOF gene were identified. Haplotype analysis for markers close to OTOF suggests a common founder for the novel c.2905_2923delinsCTCCGAGCGCA mutation, frequently found in Argentina. Our results confirm that mutation of the OTOF gene correlates with a phenotype of prelingual, profound NSHI, and indicate that OTOF mutations are a major cause of inherited auditory neuropathy. Hum Mutat 29(6), 823–831, 2008.

Advantages of binaural hearing provided through bimodal stimulation via a cochlear implant and a conventional hearing aid: A 6-month comparative study

Conclusions Our study data demonstrate the additional benefit derived from continued use of a contralateral hearing aid (HA) post-cochlear implantation for speech recognition ability in quiet and in noise. Postoperative bimodal stimulation is recommended for all subjects who show some speech recognition ability in the contralateral ear as it may offer binaural listening advantages in various listening situations encountered in everyday life. Objectives To assess the benefits derived from bimodal stimulation for experienced HA users implanted with a cochlear implant (CI) (score ≥ 20% in disyllabic test). The correlation between pre- and postoperative performance on speech perception measures was examined to determine additional criteria for recommending bimodal stimulation postoperatively. Material and methods A within-subject repeated-measures design was used, with each subject acting as their own control. Assessments were carried out preoperatively in aided monaural and best-aided conditions and at 6 months postoperatively in CI-alone, contralateral HA-alone and bimodal listening conditions. Speech recognition using Spanish words and sentences materials was assessed at conversational level and for soft speech in quiet. Speech comprehension in noise was assessed using word materials at a signal:noise ratio of +10, for coincident speech in noise and for spatially separated speech in noise. Twelve adult native Spanish subjects with a severe-to-profound hearing impairment who were experienced with optimally fitted conventional amplification and who displayed suboptimal speech understanding preoperatively were enrolled in the study. Preoperatively, conventional amplification was worn by five subjects binaurally and by seven monaurally. Results Postoperatively, superior speech recognition ability in quiet and in noise for disyllabic words was achieved using bimodal stimulation in comparison to performance for either monaural aided condition. Mean improvement in speech recognition in the bimodal condition was significant over performance in the CI-alone condition for disyllabic words in quiet at 70 (p=0.006) and 55 dB SPL (p=0.028), for disyllabic words in noise at +10 dB with speech and noise spatially separated with the noise source closest to the contralateral HA (S0NHA) (p=0.0005) and when the noise source was closest to the CI ear (S0NCI) (p=0.002). When testing word recognition in noise with speech and noise sources coincident in space, word scores were superior in the bimodal condition relative to the CI-alone condition but this improvement was not significant (p=0.07). The advantages of bimodal stimulation included significant effects of binaural summation in quiet and significant binaural squelch effects in both the S0NHA and S0NCI test conditions. All subjects showed superior performance in the binaural situation postoperatively relative to the best-aided condition preoperatively for one or more test situations.

Contralateral hearing aid use in cochlear implanted patients: Multicenter study of bimodal benefit

Abstract Conclusion: The use of a hearing aid (HA) in combination with a cochlear implant (CI) significantly improved performance for speech perception in quiet, in noise, and for localization compared with monaural conditions. No significant differences in functional performance were observed following optimization of HA fitting. Objectives: To evaluate the binaural benefits derived from using a contralateral HA in conjunction with a CI in subjects with significant functional hearing in the nonimplanted ear and the effects of HA fitting optimization. Methods: Fifteen adult CI users, intra-subject controls, were enrolled in a prospective repeated-measure multicenter study. Evaluation of performance for speech understanding, localization, and subjective impressions was conducted before and following HA fitting optimization for CI alone, HA alone, and CI + HA. Results: For speech testing in quiet, bimodal scores were significantly better than for HA alone and CI alone conditions (p < 0.01). For speech and noise (S0N0) at 0° azimuth the scores were significantly better in the bimodal condition than for CI alone (p = 0.01), indicating binaural summation. When noise was presented to the HA side (S0NHA) bimodal scores were significantly better than for CI alone (p < 0.01 and p < 0.05, respectively), suggesting a significant binaural squelch effect. Sound localization ability was significantly improved in the bimodal condition compared with the CI alone condition (p = 0.002).

Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV

Genetic and Phenotypic Heterogeneity in Two Novel Cases of Waardenburg Syndrome Type IV Antonio Vi~nuela, Mat ıas Mor ın, Manuela Villamar, Constantino Morera, M. Jos e Lavilla, Laura Cavall e, Miguel A. Moreno-Pelayo, Felipe Moreno, and Ignacio del Castillo* Unidad de Gen etica Molecular, Hospital Universitario Ram on y Cajal, Madrid, Spain Centro de Investigaci on Biom edica en Red de Enfermedades Raras (CIBERER), Madrid, Spain Servicio de Otorrinolaringolog ıa, Hospital Universitario La Fe, Universidad de Valencia, Valencia, Spain Servicio de Otorrinolaringolog ıa, Hospital San Pedro de Alc antara, C aceres, Spain

Treatment of acute mastoiditis in children with cochlear implants

Abstract Introduction Acute mastoiditis (AM) is a paediatric infectious complication that raises a specific problem in case of implanted patients. Objective To review the cases of AM in a paediatric cochlear implant (CI) programme to study its incidence and associated problems. Materials and methods A retrospective study was conducted on 248 children aged between 8 months and 14 years who underwent CI from 1994 to 2009. The demographics, clinical data and their treatment were analyzed. Results Five patients developed acute mastoiditis (2.01%), three of them with subperiosteal abscess (1.21%). The mean age of implantation was 2 years and 4 months, and the complication presented between 1 and 33 months post-implantation (mean, 11.6 months). Four patients had episodes of serous otitis preimplantation. The mean age of AM patients was of 3 years and 4 months. The CI type was nucleus in all cases. Conclusions Conservative management is suggested for AM and subperiosteal abscess in children with cochlear implants. Surgical treatment should be avoided to prevent CI contamination. The first option is intravenous antibiotics and simple puncture of the abscess. If surgical drainage is needed, radiological study should be performed to locate the CI electrodes.

Assessment of the Subjective Benefit of Electric Acoustic Stimulation with the Abbreviated Profile of Hearing Aid Benefit

Conclusion: This study demonstrates that electric-acoustic stimulation (EAS) significantly decreases the subjective impairment in speech perception. Objectives: To assess the subjective benefit of EAS over the first 12 months after EAS fitting using the Abbreviated Profile of Hearing Aid Benefit (APHAB). Method: Twenty-three EAS users, implanted with either the PULSARCI100 FLEXEAS provided with the DUET EAS processor or the COMBI40+ Medium provided with the TEMPO+ speech processor, were included. Electric stimulation was activated about 1 month postoperatively; ipsilateral acoustic stimulation was added 2 months thereafter. EAS benefit was measured preoperatively with only a hearing aid and postoperatively at EAS fitting and then 3, 6 and 12 months after EAS fitting using the APHAB. Results: Subjects reported significant improvements in the global score with a mean decrease in impairment from 74% preoperatively to 45% after 3 months of EAS use. Furthermore, clinical relevance was demonstrated in multiple subscales between preoperative and first fitting reflecting a true benefit of EAS with a probability of 95%.

Tratamiento de la mastoiditis aguda en niños con implante coclear

INTRODUCTION Acute mastoiditis (AM) is a paediatric infectious complication that raises a specific problem in case of implanted patients. OBJECTIVE To review the cases of AM in a paediatric cochlear implant (CI) programme to study its incidence and associated problems. MATERIALS AND METHODS A retrospective study was conducted on 248 children aged between 8 months and 14 years who underwent CI from 1994 to 2009. The demographics, clinical data and their treatment were analyzed. RESULTS Five patients developed acute mastoiditis (2.01%), three of them with subperiosteal abscess (1.21%). The mean age of implantation was 2 years and 4 months, and the complication presented between 1 and 33 months post-implantation (mean, 11.6 months). Four patients had episodes of serous otitis preimplantation. The mean age of AM patients was of 3 years and 4 months. The CI type was nucleus in all cases. CONCLUSIONS Conservative management is suggested for AM and subperiosteal abscess in children with cochlear implants. Surgical treatment should be avoided to prevent CI contamination. The first option is intravenous antibiotics and simple puncture of the abscess. If surgical drainage is needed, radiological study should be performed to locate the CI electrodes.

Guía clínica sobre implantes cocleares

INTRODUCTION In the last decade numerous hospitals have started to work with patients who are candidates for a cochlear implant (CI) and there have been numerous and relevant advances in the treatment of sensorineural hearing loss that extended the indications for cochlear implants. OBJECTIVES To provide a guideline on cochlear implants to specialists in otorhinolaryngology, other medical specialities, health authorities and society in general. METHODS The Scientific Committees of Otology, Otoneurology and Audiology from the Spanish Society of Otolaryngology and Head and Neck Surgery (SEORL-CCC), in a coordinated and agreed way, performed a review of the current state of CI based on the existing regulations and in the scientific publications referenced in the bibliography of the document drafted. RESULTS The clinical guideline on cochlear implants provides information on: a) Definition and description of Cochlear Implant; b) Indications for cochlear implants; c) Organizational requirements for a cochlear implant programme. CONCLUSIONS A clinical guideline on cochlear implants has been developed by a Committee of Experts of the SEORL-CCC, to help and guide all the health professionals involved in this field of CI in decision-making to treathearing impairment.

Implantes activos de oído medio

Active middle ear implants are surgically implanted prosthesis, which intend to stimulate the ossicular chain or the inner ear fluids through the oval or round windows. These implants may be useful for the treatment of certain patients with sensorineural hearing loss as well as for conductive or mixed hearing loss. This clinical guide attempts to summarize the current knowledge concerning the basic characteristics and indications of the most commonly used middle ear implants, including Vibrant Soundbrige (Med-el, Innsbruck), Carina (Cochlear, Australia), and CodacsTM. (Cochlear, Australia).