The need to optimize the use of all the information that modern technological tools have made available to the physician ENT/audiologist has increasingly emerged within the Italian scientific community. Towards this purpose, it is necessary to create a registry of the patients using cochlear implants (CIs). This registry will include a homogeneous summary of the information deriving from multiple sources related to daily clinical practice, in order to assess auditory benefits, safety and reliability in patients with cochlear implants, and organization over the national territory. The primary objectives relative to the above-mentioned analysis are to assess the impact of the use of cochlear implants on patient health, to ensure traceability of the devices currently used, monitoring their safety and reliability over time, to guarantee access of the technique in clinical and organizational conditions that can allow the best possible benefits. The aspects concerning implementation of the registry were discussed extensively during the first meetings of the Working Group (WG). In particular, owing to the complexity and high costs related mainly to the development of the technological aspects and the need to involve technological partners external to the WG, and to respect current privacy laws, the WG members decided that the project should be limited to proposal of a paper registry to be implemented at a later stage, possibly within the framework of successive research projects. During meetings, the WG members discussed various aspects of implementation of the registry, and in particular the scientific features connected to objectives, inclusion criteria, and structure of the forms needed for data collection and organizational aspects. A registry is proposed herein.

The aim of Health Technology Assessment (HTA) is to provide decision-makers, distributors and recipients with information on the effectiveness, cost and impact of health technologies. The present study constitutes a subproject within the wider project "Analysis of the impact of professional involvement in evidence generation for the HTA process", which is part of the strategic programme "Transfer of the results of the research in clinical practice and organisation of healthcare services", coordinated by Laziosanità - Agency of Public Healthcare of the Lazio Region and AgeNaS (National Agency for Regional Healthcare Services). The objectives of the present subproject (cochlear implants) are as follows: a) to produce a report regarding the health impact of cochlear implants (CI) on their recipients, through a systematic review of literature and extensive selection of relative studies, combining the outcomes with metanalytical techniques. Output: report on the indications of usage in the groups of population for which benefits are controversial; b) to create a registry of patients using cochlear implants. The registry should contain a selection of anagraphic and clinical information relative to patient follow-up in order to assess factors associated with safety and impact on cochlear implant users. This source of information is essential for future observational studies. This was divided into 4 phases: 1(st) phase: definition of key participants in the assessment process; 2(nd) phase: definition of methods and timing of "Aims" (definition of the objective); 3(rd) phase: definition of the methods and times of the "assessment process", 4(th) phase: production of the final report. From the analysis of systematic reviews and italian and international guidelines, the Working Group members approved recommendations on the following topics: results after CI in children in relation to age at implantation, bilateral CI in children, CI in deaf children with associated disabilities, CI in adults with advanced age, bilateral CI in adults and CI in adults with pre-lingual deafness. These recommendations have also been evaluated by the Consulting Committee members and approved with minimal suggestions.

The aim of this systematic review was to summarize the results of scientific publications on the clinical effectiveness of the cochlear implant (CI) procedure in adults. The members of the Working Group first examined existing research evidence from the national and international literature and main international guidelines. They considered as universally accepted the usefulness/effectiveness of unilateral cochlear implantation in severely-profoundly adult patients. Accordingly, they focused their attention on the systematic reviews addressing clinical effectiveness and cost/efficacy of CI procedures, with particular regard to the most controversial issues for which international consensus is still lacking. The following aspects were evaluated: monolateral CI in advanced-age adult patients; bilateral (simultaneous/sequential) CI vs. unilateral CI and vs. bimodal stimulation; benefits derived from the monolateral CI procedure in adult patients with prelingual deafness. With regard to CI in elderly patients, the selected studies document an improvement of the quality of life and perceptive abilities after CI, even if the benefits were found to be inferior in patients over 70 years at the time of surgery. Thus, from the results of the studies included in the review, advanced age is not a contraindication for the CI procedure. With respect to unilateral CI, bilateral CI offers advantages in hearing in noise, in sound localization and less during hearing in a silent environment. However, high interindividual variability is reported in terms of benefits from the second implant. With regard to CI in prelingually deaf adults, the selected studies document benefits deriving from the CI procedure in terms of improvement of perceptive abilities and in the quality of life after CI, as well as subjectively perceived benefits. However, there is high interindividual variability and the study sample is limited.

Molecular screening for GJB2 (connexin 26) mutations represents the standard diagnostic approach for the genotype definition of non-syndromic deafness. Nevertheless, a single GJB2 pathogenic mutation is detectable in a relevant number of cases, therefore failing to explain the phenotype. We aimed at assessing the occurrence of the recently described del( GIB6 -D13S1830) mutation, occurring in the connexin 30 gene, in a group of Italian hearing-impaired patients carrying a single GJB2 mutated allele. A total of 59 non-syndromic hearing loss (NSHL) patients were screened for GJB2 mutations. Among these, nine NSHL patients were found to be heterozygous for a single GJB2 mutation. These patients, heterozygotes for different GJB2 mutated alleles (35delG, L90P, M34T, V153I), together with 11 additional 35delG/neg cases previously described, were studied for the presence of the del( GIB6 -D13S1830) mutation. Two double heterozygotes del( GIB6 -D13S1830)/35delG were identified. In both cases the degree of hearing loss was profound. Furthermore, GJB2 molecular screening led to the identification of a novel change (T55G) occurring in compound heterozygosity with the V37I mutation. In conclusion, our data suggest a significant frequency of del( GIB6 -D13S1830) mutation in Italian hearing-impaired subjects (10% of unexplained GJB2 heterozygotes) similar to that reported in other European countries.

OBJECTIVE Nowadays, two surgical alternatives are to be considered in patients with far advanced otosclerosis: stapedectomy and cochlear implantation. The aim of this study was to analyze and compare the hearing and communicative results obtained in two groups of patients affected with far advanced otosclerosis, who were treated with the two different surgical procedures, to assess the proper surgical approach for these patients. DESIGN Retrospective study. SETTINGS University hospital and referral audiologic centre. METHODS We submitted 11 adult patients, affected by far advanced otosclerosis and exhibiting unsatisfactory communicative abilities with hearing aids, to two different procedures: 5 to cochlear implantation, and 6 to stapedotomy followed by hearing aid fitting. The benefits afforded by the two procedures were assessed by means of pure-tone audiometry and speech audiometry in an open field and by means of a speech perception test. MAIN OUTCOME MEASURES Hearing and communicative outcomes, measured 1 year after intervention. RESULTS The results achieved in the patients subjected to stapedotomy were unpredictable and variable: very good in some cases but unsatisfactory in others, whereas those who had cochlear implantation all achieved satisfactory results with regard to speech recognition. CONCLUSIONS Patients who underwent cochlear implantation achieved better hearing and communicative results than those who underwent stapedotomy. Even if the number of patients reported in this study is too small to provide definitive results, and despite the reportedly better results afforded by cochlear implantation, in our opinion, correction of far advanced otosclerosis should first be attempted via stapedotomy, and cochlear implantation should instead be reserved for cases in which stapedotomy is unsuccessful or for which imaging techniques unequivocally reveal a fenestral or cochlear obstruction.

GJB2 mutation analysis was performed in 179 unrelated subjects with sporadic or familial hearing loss (HL). Among 57 families, 18 showed a vertical transmission of HL, the disease being present in two or three generations. Besides 155 nonsyndromic cases, 24 patients presenting with extra-auditory clinical signs were included in the molecular study. GJB2 mutation analysis was also performed in 19 subjects with an anamnestic history of perinatal risks factors for acquired HL. The 35delG mutation accounted for 22.1% of analyzed chromosomes in sporadic cases and 39.4% in familial cases; 35delG prevalence reached 41% in autosomal recessive and 44.4% in pseudodominant pedigrees. Two novel GJB2 mutations were identified in compound heterozygosity with 35delG allele (D159V, 284ins/dup[CACGT]). Two 35delG homozygous subjects were identified among HL cases classified as environmental in origin. Four patients 35delG heterozygous (35delG/V95M, 35delG/L90P, 35delG/167delT, and 35delG/?) and two homozygous presented with extra-auditory clinical signs involving different organs (skin, vascular system, hemopoietic lineages, and thyroid). In a high proportion of 35delG heterozygous HL patients (52%), no second GJB2 mutation was detected. The reported data highlight the complexity of the genetic epidemiology of GJB2-linked deafness, further enlarging the spectrum of situations in which GJB2 mutation analysis should be performed. The presence of extra-auditory signs in a significant portion of GJB2-mutated patients suggests the possibility that GJB2 loss of function could contribute to clinical phenotypes presenting in association with deafness. This hypothesis deserves further investigation. The failure to identify a presumed partnering GJB2 mutation in a high proportion of deaf patients remains a challenging problem to be clarified.