Sequential bilateral cochlear implant: long-term speech perception results in children first implanted at an early age.

PURPOSE: The study aims to assess the benefit of sequential bilateral cochlear implantation in children with congenital bilateral profound hearing loss, submitted to the first implant at an early age. METHODS: We enrolled all the bilateral sequential cochlear implanted children who received the first implant within 48 months and the second within 12 years of age at our Institution. The children were submitted to disyllabic word recognition tests and Speech Reception Threshold (SRT) assessment using the OLSA matrix sentence test with the first implanted device (CI1), with the second implanted device (CI2), and with both devices (CIbil). Furthermore, we measured the datalogging of both devices. Then we calculated the binaural SRT gain (b-SRTgain) and checked the correlations between speech perception results and the b-SRTgain with the child's age at CI1 and CI2, DELTA and the datalogging reports. RESULTS: With the bilateral electric stimulation, we found a significant improvement in disyllabic word recognition scores and in SRT. Moreover, the datalogging showed no significant differences in the time of use of CI1 and CI2. We found significant negative correlations between speech perception abilities with CI2 and age at CI2 and DELTA, and between the SRT with CI1 and the b-SRTgain. CONCLUSIONS: From this study we can conclude that in a sequential CI procedure, even if a short inter-implant delay and lower ages at the second surgery can lead to better speech perception with CI2, children can benefit from bilateral stimulation independently of age at the second surgery and the DELTA.

Cochlear implantation in patients with asymmetric hearing loss: reporting and discussing the benefits in speech perception, speech reception threshold, squelch abilities, and patients' reported outcomes.

OBJECTIVES: This study presents the results obtained in a group of patients with asymmetric hearing loss undergoing cochlear implantation at our institution. Prognostic factors are discussed in relation to different rehabilitative approaches for asymmetric hearing loss remediation. The current literature is also discussed. METHODS: Nineteen adult patients with post-verbal asymmetric hearing loss were enrolled. The results were assessed by means of a speech perception test, completed in silence and with background noise, and a speech reception threshold test (Oldenburg Sentence Test). The subjectively perceived benefits were assessed using the Speech, Spatial and Qualities of Hearing Scale. RESULTS: Statistically significant improvements were achieved by all patients in terms of speech perception and speech reception threshold, and in subjective benefits. CONCLUSION: The results confirm the literature findings which suggest that patients with asymmetric hearing loss generally gain substantial benefit from cochlear implantation because of the binaural input, with significant improvement in speech perception abilities in noise, speech reception threshold, and squelch abilities.

Enlarged vestibular aqueduct and Mondini Malformation: audiological, clinical, radiologic and genetic features.

PURPOSE: When referring to enlarged vestibular aqueduct (EVA) we should differentiate between nonsyndromic enlarged vestibular aqueduct (NSEVA) and Pendred Syndrome (PDS), a disease continuum associated with pathogenic sequence variants of Pendrin's Gene (SLC26A4) in about half of the cases. The study was aimed to analyse the clinical and audiological features of a monocentric cohort of Caucasian patients with NSEVA/PDS, their genetic assessment and morphological inner ear features. METHODS: We retrospectively reviewed the audiologic, genetic and anamnestic data of 66 patients with NSEVA/PDS followed by our audiology service. RESULTS: SLC26A4 mutations was significantly correlated with the presence of PDS rather than NSEVA (p < 0.019), with the expression of inner ear malformations (p < 0.001) and with different severity of hearing loss (p = 0.001). Furthermore, patients with PDS showed significantly worse pure tone audiometry (PTA) than patients with NSEVA (p = 0.001). Anatomically normal ears presented significantly better PTA than ears associated with Mondini Malformation or isolated EVA (p < 0.001), but no statistically significative differences have been observed in PTA between patients with Mondini Malformation and isolated EVA. CONCLUSION: NSEVA/PDS must be investigated in all the congenital hearing loss, but also in progressive, late onset, stepwise forms. Even mixed or fluctuating hearing loss may constitute a sign of a NSEVA/PDS pathology. Our findings can confirm the important role of SLC26A4 mutations in determining the phenotype of isolated EVA/PDS, both for the type/degree of the malformation, the hearing impairment and the association with thyroid dysfunction.

Transtympanic Hearing Aid: exploratory study on a new device.

SUMMARY: In this paper, we present the preliminary results achieved with a transtympanic hearing aid (THA). This is a modified digital, open-fit external hearing aid (HA) designed for acute study only, which allows coupling with a pre-implanted ventilation tube. The THA conveys amplified sound directly onto the round window, bypassing the ossicular chain, in contrast with traditional HAs that convey sound onto the second or third portion of the external auditory canal. The THA has been developed as an alternative to standard HAs and active middle ear implants for patients who are unsatisfied with traditional HA outcomes and want to avoid middle-ear implantation. The results achieved using the THA were compared to those obtained with an equivalent device, the Latitude 8 Moxi 13 (Moxi), uncoupled from the ventilation tube, and placed onto the outer ear. For this purpose, 12 patients with conductive (1/12), sensorineural (3/12), or mixed (8/12) hearing loss from moderate to severe, with a pre-implanted ventilation tube, underwent audiological evaluation with both the THA and the Latitude 8 Moxi 13 (Moxi). Our initial results showed that the THA provided significant improvement in the warble tone results in comparison to the Moxi. Moreover, patients with a PTA between 41 and 90 also achieved better results in terms of speech recognition using the THA in comparison to the Moxi. In conclusion, these outcomes provide the first evidence of the potential benefits of the THA over standard open-fit HAs. Nevertheless, these preliminary outcomes require further confirmation.

Cochlear implant in prelingually deafened oralist adults: speech perception outcomes, subjective benefits and quality of life improvement.

The aim of this study is to report our results in a group of prelingually deafened adults, who followed an oralist rehabilitation programme, and submitted to cochlear implant at our institution. We evaluated 30 prelingually deafened adult patients, 18 males and 12 females, median age 35 years, of a group of 36 prelingually deafened adult patients consecutively submitted to unilateral cochlear implantation at the ENT Unit of the University of Pisa. After implantation, patients achieved significant benefits in terms of speech perception skills, including the ability to have telephone conversations in some cases, quality of life and their own perception of disability. According to literature data, the results herein reported are quite variable but generally satisfactory. Procedures other than traditional speech perception measures should be used to evaluate the benefits of cochlear implant in such patients, to compressively evaluate the global benefits, not only in terms of speech perception, but also in terms of quality of life and daily life.

A review of new insights on the association between hearing loss and cognitive decline in ageing.

Age-related hearing loss (ARHL) has a multifactorial pathogenesis and it is an inevitable hearing impairment associated with reduction of communicative skills related to ageing. Increasing evidence has linked ARHL to more rapid progression of cognitive decline and incidental dementia. Many aspects of daily living of elderly people have been associated to hearing abilities, showing that hearing loss (HL) affects the quality of life, social relationships, motor skills, psychological aspects and function and morphology in specific brain areas. Epidemiological and clinical studies confirm the assumption of a relationship between these conditions. However, the mechanisms are still unclear and are reviewed herein. Long-term hearing deprivation of auditory inputs can impact cognitive performance by decreasing the quality of communication leading to social isolation and depression and facilitate dementia. On the contrary, the limited cognitive skills may reduce the cognitive resources available for auditory perception, increasing the effects of HL. In addition, hearing loss and cognitive decline may reflect a 'common cause' on the auditory pathway and brain. In fact, some pathogenetic factors are recongised in common microvascular disease factors such as diabetes, atherosclerosis and hypertension. Interdisciplinary efforts to investigate and address HL in the context of brain and cognitive ageing are needed. Surprisingly, few studies have been adressed on the effectiveness of hearing aids in changing the natural history of cognitive decline. Effective interventions with hearing aids or cochlear implant may improve social and emotional function, communication, cognitive function and positively impact quality of life. The aim of this review is to overview new insights on this challenging topic and provide new ideas for future research.

Idiopathic sensorineural hearing loss in the only hearing ear.

A retrospective chart review was used for 31 patients with sudden, progressive or fluctuating sensorineural hearing loss (SHL) in the only hearing ear who had been consecutively evaluated at the ENT, Audiology and Phoniatrics Unit of the University of Pisa. The group of patients was evaluated with a complete history review, clinical evaluation, imaging exam (MRI, CT), audiologic tests (tone and speech audiometry, tympanometry, study of stapedial reflexes, ABR and otoacoustic emission) evaluation. In order to exclude genetic causes, patients were screened for CX 26 and CX30 mutations and for mitochondrial DNA mutation A1555G. Patients with sudden or rapidly progressive SHL in the only hearing ear were treated with osmotic diuretics and corticosteroids. In patients who did not respond to intravenous therapy we performed intratympanic injections of corticosteroid. Hearing aids were fitted when indicated and patients who developed severe to profound SHL were scheduled for cochlear implant surgery. The aim of this study is to report and discuss the epidemiology, aetiopathogenesis, therapy and clinical characteristic of patients affected by SHL in the only hearing hear and to discuss the issues related to the cochlear implant procedure in some of these patients, with regard to indications, choice of the ear to implant and results.

Aetiologic diagnosis of hearing loss in children identified through newborn hearing screening testing.

With the implementation of universal newborn hearing screening (UNHS) programmes and early diagnosis and treatment of hearing problems, the need has clearly emerged to implement and carry out a systematic and coordinated protocol for the aetiological diagnosis of permanent hearing impairment (PHI). Within the framework of the Italian Ministry of Health project CCM 2013 "Preventing Communication Disorders: a Regional Program for early Identification, Intervention and Care of Hearing Impaired Children", it has been decided to consider the problems relative to aetiological diagnosis of child PHI within UNHS programmes. The specific objective was to apply a shared diagnostic protocol that can identify the cause in at least 70% of cases of PHI. For this part of the project, four main recommendations were identified that can be useful for an efficient aetiological diagnosis in children affected by PHI and that can offer valid suggestions to optimise resources and produce positive changes for third-level audiologic centres.

Early care in children with permanent hearing impairment.

The implementation of regional protocols for newborn hearing screening and early audiologic diagnosis represent the first step of the entire diagnostic, rehabilitative and prosthetic programme for children with permanent hearing impairment. The maximum benefit of early diagnosis can indeed be obtained only by prompt rehabilitation aimed at fostering the child's communicative, linguistic and cognitive development. Within the framework of the CMM 2013 project of the Ministry of Health entitled "Preventing Communication Disorders: a Regional Program for Early Identification, Intervention and Care of Hearing Impaired Children", the problems concerning the promotion of the global development of children with PHI through an early rehabilitation project based on shared knowledge and scientific evidence. In this project, our specific aim was to define the features and modes of access to a precise and specialised rehabilitation project for the small hearing-impaired child within three months from audiologic diagnosis. Three main recommendations relative to assessment and rehabilitation aspects of early care emerged from the study.

Breast cancer stem cells rely on fermentative glycolysis and are sensitive to 2-deoxyglucose treatment.

A number of studies suggest that cancer stem cells are essential for tumour growth, and failure to target these cells can result in tumour relapse. As this population of cells has been shown to be resistant to radiation and chemotherapy, it is essential to understand their biology and identify new therapeutic approaches. Targeting cancer metabolism is a potential alternative strategy to counteract tumour growth and recurrence. Here we applied a proteomic and targeted metabolomic analysis in order to point out the main metabolic differences between breast cancer cells grown as spheres and thus enriched in cancer stem cells were compared with the same cells grown in adherent differentiating conditions. This integrated approach allowed us to identify a metabolic phenotype associated with the stem-like condition and shows that breast cancer stem cells (BCSCs) shift from mitochondrial oxidative phosphorylation towards fermentative glycolysis. Functional validation of proteomic and metabolic data provide evidences for increased activities of key enzymes of anaerobic glucose fate such as pyruvate kinase M2 isoform, lactate dehydrogenase and glucose 6-phopshate dehydrogenase in cancer stem cells as well as different redox status. Moreover, we show that treatment with 2-deoxyglucose, a well known inhibitor of glycolysis, inhibits BCSC proliferation when used alone and shows a synergic effect when used in combination with doxorubicin. In conclusion, we suggest that inhibition of glycolysis may be a potentially effective strategy to target BCSCs.

Mitochondrial DNA (mtDNA) haplotypes and dysfunctions in presbyacusis.

The aim of this study was to investigate the presence of mitochondrial DNA (mtDNA) alterations and metabolic dysfunctions in patients with presbyacusis, and to discover correlations between presbyacusis and the degree of hearing loss and mitochondrial damage. Seventy patients with presbyacusis were examined, including 40 Egyptian patients and 30 Italian patients. Forty eight normal subjects were included as control group, including 24 Egyptians and 24 Italians. There was no common point mutation, and A1555G, A3243G, A7445G not were detected in any patients or controls. Haplogroup U was significantly common in patients in comparison to controls. Mutation of antioxidant genes (GSTT1, GSTM1) were significantly present in only Italian patients compared to Italian controls.

Neonatal screening for congenital cytomegalovirus infection in preterm and small for gestational age infants.

Congenital cytomegalovirus (CMV) infection affects many organs: reticuloendothelial and central nervous system are particularly involved. Congenital CMV infection is the leading cause of non-genetic sensorineural hearing loss. Hearing impairment can be present at birth or it can occur months or even years after birth. It is as well an important risk factor for antenatal stillbirth, preterm birth and small for gestational age (SGA) condition. For these reasons we should early identify congenital CMV infection investigating at least at risk newborns such as preterm or SGA babies given that a simple and standardized method for a large scale screening program is lacking. In our study, we found an association between congenital CMV infection and preterm births (3.03%) and with SGA condition (3.7%). Consequently, routine CMV urine detection should be performed at least in all babies born before 37 weeks of gestational age and in term SGA newborns.

[Cochlear implant in children: rational, indications and cost/efficacy]. / L'impianto cocleare nel bambino: razionale, indicazioni, costo/efficacia.

A cochlear implant (CI) is a partially implanted electronic device that can help to provide a sense of sound and support speech to severely to profoundly hearing impaired patients. It is constituted by an external portion, that usually sits behind the ear and an internal portion surgically placed under the skin. The external components include a microphone connected to a speech processor that selects and arranges sounds pucked up by the microphone. This is connected to a transmitter coil, worn on the side of the head, which transmits data to an internal receiver coil placed under the skin. The received data are delivered to an array of electrodes that are surgically implanted within the cochlea. The primary neural targets of the electrodes are the spiral ganglion cells which innervate fibers of the auditory nerve. When the electrodes are activated by the signal, they send a current along the auditory nerve and auditory pathways to the auditory cortex. Children and adults who are profoundly or severely hearing impaired can be fitted with cochlear implants. According to the Food and Drug Administration, approximately 188,000 people worldwide have received implants. In Italy it is extimated that there are about 6-7000 implanted patients, with an average of 700 CI surgeries per year. Cochlear implantation, followed by intensive postimplantation speech therapy, can help young children to acquire speech, language, and social skills. Early implantation provides exposure to sounds that can be helpful during the critical period when children learn speech and language skills. In 2000, the Food and Drug Administration lowered the age of eligibility to 12 months for one type of CI. With regard to the results after cochlear implantation in relation to early implantation, better linguistic results are reported in children implanted before 12 months of life, even if no sufficient data exist regarding the relation between this advantage and the duration of implant use and how long this advantage persists in the subsequent years. With regard to cochlear implantation in children older than 12 months the studies show better hearing and linguistic results in children implanted at earlier ages. A sensitive period under 24-36 months has been identified over which cochlear implantation is reported to be less effective in terms of improvement in speech and hearing results. With regard to clinical effectiveness of bilateral cochlear implantation, greater benefits from bilateral implants compared to monolateral ones when assessing hearing in quiet and in noise and in sound localization abilities are reported to be present in both case of simultaneous or sequential bilateral implantation. However, with regard to the delay between the surgeries in sequential bilateral implantation, although benefit is reported to be present even after very long delays, on average long delays between surgeries seems to negatively affect the outcome with the second implant. With regard to benefits after cochlear implantation in children with multiple disabilities, benefits in terms of speech perception and communication as well as in quality of the daily life are reported even if benefits are slower and lower in comparison to those generally attained by implanted children without additional disabilities. Regarding the costs/efficacy ratio, the CI is expensive, in particular because of the cost of the high technological device, long life support, but even if healthcare costs are high, the savings in terms of indirect costs and quality of life are important. The CI, in fact, has a positive impact in terms of quality of life.

Cochlear implant in incomplete partition type I.

In this investigation, we report on 4 patients affected by incomplete partition type I submitted to cochlear implant at our institutions. Preoperative, surgical, mapping and follow-up issues as well as results in cases with this complex malformation are described. The cases reported in the present study confirm that cochlear implantation in patients with incomplete partition type I may be challenging for cochlear implant teams. The results are variable, but in many cases satisfactory, and are mainly related to the surgical placement of the electrode and residual neural nerve fibres. Moreover, in some cases the association of cochlear nerve abnormalities and other disabilities may significantly affect results.

[Etiological, clinical and neuroradiological investigation of deaf children with additional neuropsychiatric disabilities]. / Sordita complicata nel bambino: correlati eziologici, clinici e neuroradiologici.

AIM: Sensorineural hearing loss (SNHL) is complicated by additional disabilities in about 30% of cases, but the epidemiology of associated disorders, in terms of type, frequency and aetiology is still not clearly defined. Additional disabilities in a deaf child have important consequences in assessing and choosing a therapeutic treatment, in particular when considering cochlear implantation (CI) or hearing aids (HA). The aim of this paper was to evaluate frequency, type and severity of additional neurodevelopmental disabilities in children with profound bilateral sensorineural hearing loss and to investigate the relationship between disability and the etiology of deafness. METHODS: Eighty children with profound bilateral sensorineural hearing loss (mean age 5.4 years) were investigated by means of a diagnostic protocol including clinical, neurodevelopmental, and audiological procedures together with genetic and neurometabolic tests and neuroradiological investigation by brain MRI. RESULTS: Fifty-five percent of the sample exhibited one or more disabilities in addition to deafness, with cognitive, behavioural-emotional and motor disorders being the most frequent. The risk of additional disabilities varied according to aetiology, with a higher incidence in hereditary syndromic deafness, in cases due to pre-perinatal pathology (in comparison to unknown and hereditary non syndromic forms) and in the presence of major brain abnormalities at MRI. CONCLUSION: Our results suggest that the aetiology of deafness may be a significant risk indicator for the presence of neuropsychiatric disorders. A multidimensional evaluation, including aetiological, neurodevelopmental and MRI investigation is needed for formulating prognosis and for planning therapeutic intervention, especially in those children candidated to cochlear implant.

Cochlear implantation in patients affected by superficial hemosiderosis of the central nervous system.

The objectives of the study were to: report three more cases of cochlear implantation (CI) in patients affected by superficial hemosiderosis of the central nervous system (SH-CNS); assess whether CI may be a viable option in this disease. The study was conducted in a tertiary referral center. Pre-operative and post-operative clinical notes of three patients with SH-CNS were reviewed. Two out of three cases showed very good results with CI in sentence perception in noise over 90%. For the other case, hearing performance was very low. He showed only disyllabic word identification abilities in a closed set (40%). Cochlear implantation may be a viable option for patients with severe to profound sensorineural hearing loss due to SH-CNS. In these cases, an adequate pre-operative counseling, explaining the possibility of poor post-operative results and/or the worsening of the outcomes in the following years, is important.

Facial nerve stimulation after cochlear implantation: our experience.

Post-implantation facial nerve stimulation is one of the best known and most frequent complications of the cochlear implant procedure. Some conditions, such as otosclerosis and cochlear malformations, as well as high stimulation levels that may be necessary in patients with long auditory deprivation, expose patients to a higher risk of developing post-implant facial nerve stimulation. Facial nerve stimulation can frequently be resolved with minimal changes in speech processor fitting but, in some cases, this can lead to a reduction in the outcome. A retrospective review has been made of the clinical features of 11 patients (out of 119 patients consecutively implanted, from 1999 to 2007, at the ENT Clinic of the University of Pisa) who developed post-implantation facial nerve stimulation.

Analysis of the impact of professional involvement in evidence generation for the HTA Process, subproject "cochlear implants": methodology, results and recommendations.

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.