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Purpose: Unilateral cochlear implants (CIs) can restore binaural hearing in single-sided deafness (SSD). Direct stimulation of the CI can be obtained via the Bluetooth connection of a device to the CI, thus excluding the typical-hearing ear. This study aims to investigate the use of CI connectivity features as a rehabilitative strategy in a small cohort of children affected by SSD. Method: A newly developed training protocol was presented to children with SSD who have less than 2 years of experience with CI. We developed a user-friendly and short-term (six sessions within 20 days) training protocol for speech perception that patients themselves can manage independently at home using CI connectivity systems. Children were telematically tested before and after the training by trained speech and language therapists. Results: Four patients met the inclusion criteria. They all showed better results in the final online assessment, when compared with the initial one. Conclusions: To our knowledge, this is the first clinical focus article presenting an auditory training protocol for SSD patients with CI using the Bluetooth connectivity systems for teletherapy. The results, although preliminary, support the efficacy of this rehabilitative strategy. Further research is needed to support our findings.

Inner ear malformations are present in 20% of patients with sensorineural hearing loss. Although the first descriptions date to the 18th century, in recent years the knowledge about these conditions has experienced terrific improvement. Currently, most of these conditions have a rehabilitative option. Much less is known about the etiology of these anomalies. In particular, the evolution of genetics has provided new data about the possible relationship between inner ear malformations and genetic anomalies. In addition, in syndromic condition, the well-known presence of sensorineural hearing loss can now be attributed to the presence of an inner ear anomaly. In some cases, the presence of these abnormalities should be considered as a characteristic feature of the syndrome. The present paper aims to summarize the available knowledge about the possible relationships between inner ear malformations and genetic mutations.

Introduction: Non-syndromic hereditary hearing loss is characterized by extreme genetic heterogeneity. So far, more than 100 pathogenic or likely pathogenic variants in TMC1 gene have been reported in patients with autosomal recessive hearing loss (HL) DFNB7/11. The prevailing auditory phenotype of individuals with DFNB7/11 is congenital, profound, bilateral HL, but the functional outcome after cochlear implantation (CI) described in the literature is variable. The objective of this work is to evaluate the auditory outcome after CI in pediatric patients with DFNB7/11, born to non-consanguineous parents. Methods: A retrospective analysis of genetic and audiological data of DFNB7/11 patients followed up in a single Italian otolaryngology clinic was performed. Cases with biallelic pathogenic variants in TMC1 were selected from the cohort of children with non-syndromic hearing loss who had undergone CI and had been molecularly characterized by multigene panel testing. All patients underwent extensive audiological assessment, and the auditory outcome after CI was evaluated. Results: DFNB7/11 was diagnosed in a total of 3 patients from 2 non-consanguineous families; a novel disease-causing variant in TMC1 was detected [c.962G>A p.(Trp321*)]. All the affected children showed the typical DFNB7/11 phenotype characterized by prelingual, severe-to-profound HL. The patients showed an excellent functional outcome after CI; speech perception, nonverbal cognition, and speech performance were comparable to those of patients with DFNB1 deafness. Discussion/Conclusion: Our results do not support the variable auditory outcome reported in the literature, which may be affected by several social and environmental factors and by the genetic background.

Introduction: Unilateral peripheral facial palsy after vestibular neuroma surgery may cause miming, articulatory, communication and swallowing disorders, especially with liquids. The therapy ranges...

Objectives: Too little is known about hearing loss rehabilitation in patients with Alström syndrome (AS). Benefits of hearing aids (HA) have not been fully documented and only one case treated with a Cochlear Implant (CI) has been described in the proceedings of a conference. Furthermore, comorbidities and risk of complications following surgical intervention may contraindicate Cochlear Implant procedures in these patients. The present case report concerns the first AS patient with CI in the literature. Methods: After reporting a concise description of the audiological profile of patients with AS described in the literature, the case of a 22-year-old woman with genetically confirmed Alström syndrome who underwent a sequential bilateral CI (Bi-CI) rehabilitation is reported. Audiological results before and after cochlear implantation are described. Results: The patient showed an excellent functional outcome with CIs, which enabled her to achieve communicative, social and academic results comparable with her peers, and no complications occurred. Conclusions: AS is not necessarily an absolute contraindication to CI. For many AS patients, a good cognitive function and adequate life expectancy represent a clear indication to prompt and adequate hearing rehabilitation with CIs. The description of this type of clinical cases could in the future also generate indications for a tailored audiological treatment of patients with very specific needs, such as patients with Alström Syndrome.

Ripristino del network uditivo dopo impianto cocleare in soggetti affetti da sordità prelinguale: studio del potenziale P300 attraverso l’utilizzo di LORETA.La letteratura è concorde su come, in pazienti affetti da ipoacusia perlinguale, il ripristino uditivo secondario ad impianto cocleare (IC) sia paragonabile ad un modello di network sinaptico attivato dall’esperienza uditiva. Scopo di questo studio è la valutazione di quali networks cerebrali si attivino secondariamente ad impianto cocleare in una popolazione di pazienti ipoacusici preverbali. In particolare, verrà valutato come alcuni fattori, quali l’età all’attivazione ed il tempo di utilizzo dell’IC, incidano nel ripristino della percezione uditiva. Sono stati valutati 20 pazienti suddivisi in 3 gruppi: impianto precoce e lungo utilizzo dell’IC (gruppo A); impianto tardivo e lungo utilizzo dell’IC (gruppo B); impianto tardivo e breve utilizzo dell’IC (gruppo C). Tutti i pazienti sono stati comparati con soggetti normoacusici di pari età. La valutazione si è avvalsa dell’utilizzo di potenziali uditivi evento correlati (ERPs); in particolare sono state valutate le latenze dei potenziali (N200 e P300) e le sorgenti corticali tramite utilizzo del software LORETA. Le latenze del potenziale P300 sono risultate aumentate nei pazienti rispetto ai controlli. Dall’analisi delle sorgenti corticali è stato riscontrato che l’attivazione corticale nei pazienti è direttamente correlata con il tempo di utilizzo del dispositivo ed inversamente correlata con l’età d’impianto. Dal confronto dei pazienti suddivisi in gruppi rispetto ai controlli, un’attivazione corticale similare nelle aree frontali e cingolata, è stata riscontrata solo nel gruppo A, in minor misura nel gruppo B e notevolmente ridotta nel gruppo C. In conclusione, l’IC apporta una reale attivazione delle aree cerebrali implicate nelle funzioni sensoriali e cognitive ma, per ottenere risposte simili ai normoudenti, necessita di un tempo di utilizzo prolungato. I risultati di questo studio evidenziano come la precocità di impianto ed il tempo di utilizzo del dispositivo siano fattori cruciali per l’attivazione dei newtorks cerebrali nei soggetti ipoacusici preverbali.The concept of auditory restoration after cochlear implant (CI) in prelingual deafness is well described by a synaptic network model, whose development depends on sensory experience. The aim of this work was to study the associative networks activated by the CI in a population of prelingually deaf patients. In particular, the impact of age at time of first CI fitting and duration of CI use was evaluated. Twenty patients were tested and divided into three groups: early implanted and lengthy CI use (group A); late implanted and lengthy CI use (group B); late implanted and short CI use (group C). Each patient group was compared with a normal hearing age matched control group. All subjects underwent to auditory event-related potentials (ERPs) registration. ERP latencies and their cortical sources were investigated. Cortical source analysis was performed using LORETA (Low Resolution Electromagnetic Tomography) software. P300 latencies were significantly longer in patients than in controls. The amount of cortical activation was found to be significantly directly correlated with duration of implant use and significantly correlated inversely with age at implant. When comparing patients and controls, comparable cortical activation was only found in A patient group, and to a lesser extent in group B, while significantly lower activation was found in patient group C in the frontal and cingulate areas. CI adds a sensory modality in deafness patients, i.e. the auditory one. This involves areas implicated in sensory and cognitive functions, and needs some time to form. The duration of CI use is crucial: our results demonstrate the importance of long term use of the device in addition to an early time of implant.

Background Impedance is a basic parameter registered at any cochlear implant (CI) fitting section. It is useful in monitoring electrode functioning and the status of the surrounding anatomical structures. Purpose The main aim of this study is to evaluate the 5-year impedance-value trend in patients affected by congenital genetically determined profound hearing loss implanted with Cochlear Nucleus devices. Research Design Observational, retrospective, monocentric study. Study Sample Twenty-seven consecutive patients (9 females: 12.0 ± 7.6 years old; range: 4.2–40.4) with genetic diagnosis of GJB2 mutation causing congenital profound hearing loss who underwent cochlear implantation from 2010 to 2020 with good auditory benefit. Intervention Impedance values of the CIs were obtained from the CIs' programming software that registers those parameters for each follow-up section of each patient. Data Collection and Analysis Impedance values were measured over time (activation, 6, 12, 24, and 60 months after cochlear implantation), for each of the 22 electrodes, in common ground, monopolar 1, monopolar 2, and monopolar 1 + 2 stimulation modes. Results A significant variation was found between CI activation and 6-month follow-up. This difference was found for each of the 22 electrodes. Electrodes 1 to 4 showed higher impedance values compared with all other electrodes in each time interval. Repeated-measures analysis of variance ruled out significant variations in impedance values from 6-month to 5-year follow-up. Conclusions Impedance values were extremely stable after activation, at least for the first 5 years. In these cases, even minimal impedance variations should be carefully evaluated for their possible implications on hearing performance.

To assess preoperative features that could predict the audiological outcome after cochlear implantation in the elderly, in terms of pure tone audiometry, speech audiometry, and speech perception performance. All available records of patients with cochlear implants aged 65 or more at the time of their implantation at our Institution were reviewed (50 patients, mean age 70.76 ± 4.03 years), recording preoperative clinical features. Pure tone audiometry, speech audiometry, and speech perception performance 1 year after cochlear implant activation and fitting were used as outcome measures. No statistically significant association emerged between clinical features and pure tone audiometry. On univariate analysis, progressive sensorineural hearing loss of unknown origin was associated with a better outcome in terms of speech audiometry and speech perception performance (p = 0.035 and p = 0.033, respectively). On multivariate analysis, progressive sensorineural hearing loss retained its independent prognostic significance in terms of speech perception performance (p = 0.042). The discriminatory power of a two-variable panel (age and etiology of hearing loss) featured an AUC (ROC) of 0.738 (an acceptable discriminatory power according to the Hosmer–Lemeshow scale). A progressive sensorineural hearing loss of unknown origin was associated with a better outcome in terms of speech perception in the elderly in our case study. Further features that can predict audiological outcome achievable with cochlear implants in the elderly are desirable to perform adequate counselling and rehabilitation programs.

During COVID-19 pandemic, protective measures such as social distancing and face masks posed a challenge in daily communication, in this context the elderly are one of the most at risk categories as widely exposed to hearing loss. This article focuses on how the COVID-19 pandemic affected verbal communication, especially on those people that even in normal conditions present an increased difficulty in speech perception. Special attention has been paid to hearing aids and cochlear implant users, these devices indeed can be affected by a speech intelligibility reduction and could be uncomfortable if used together with face masks. Possible alternatives and solutions will be proposed to reduce the negative impacts of face coverings on communication, to enhance speech intelligibility and to manage wearability of hearing rehabilitation devices.

Background Little is known regarding fitting parameters and receptive and expressive language development in cochlear-implanted children (CCI) with profound sensorineural hearing loss (SHL) who are diagnosed with Autism Spectrum Disorder (ASD). The aim of the study was to evaluate a group of ASD CCI users in order to describe their ASD clinical features and CCI outcomes; report on the average electrical charge requirements; and evaluate the possible correlations between electrical and psychophysical outcomes with ASD characteristics. Materials and methods A multicentre observational study of 22 ASD children implanted in four cochlear implant (CI) centers. Data concerning profound SHL diagnosis, ASD diagnosis, CI timing and CI compliance were collected. Sound Field (SF) was assessed through repeated behavioural measurements. Categories of Auditory Perception (CAP) and Categories of Language (CL) were used to evaluate speech perception and language skills at short (≤2 yrs), medium (5 yrs) and long term (>10 yrs) follow-up. Fitting parameters such as comfortable thresholds, pulse-width (pw, μsec) and clinical units converted into units of charge/phase were collected. The diagnosis of ASD was acquired by the referral neuropsychiatric department and severity was assessed through the Diagnostic and Statistical Manual of Mental Disorders (DSM-V) and the Childhood Autism Rating Scale (CARS). Results At the final follow-up session the median SF threshold for CI outcomes was 30 dB HL (min 15 – max 60). CAP score was extremely variable: 45.5% showed no improvement over time and only 22% of children reached CAP scores of 5–7. CL 45.5% showed no improvement over time and score was 1–2 in the majority of ASD children (72.7%), while only 18.2% reached the highest level of language skills. There were no statistically significant differences at each follow-up between subjects with or without comorbidities. CAP and CL were inversely correlated with DSM-V A and B domains, corresponding to lower speech and language scores in children with more severe ASD symptoms, and maintained their correlation at mid and long follow-ups whilst controlling for age at CI. Electrical charge requirements did not correlate with SF or age at implant but did inversely correlate with ASD severity. With regards to CI compliance: only 13.6% children (3) with severe DSM-V A/B levels and CARS score were partial/intermittent users. Conclusion The present study is a targeted contribution to the current literature to support clinical procedures for CI fitting and audiological follow-up in children with ASD. The findings indicate that the outcomes of CI use and the fitting procedures are both influenced by the severity of the ASD symptoms rather than the demographic variables or associated disorders.

Pediatric hearing loss early diagnosis and treatment have been limited by the current restrictions due to the coronavirus disease 2019 pandemic. The difficulty in accessing the multiple facilities required for the rehabilitative process is influencing the timing of each step of the process. Auditory hearing screening programs, etiological characterization, surgical timing, and speech therapies have all been limited in the past year. The current conditions have forced us to adopt different strategies to overcome the necessary social distancing prescriptions. Although their efficacy should be proved over time, some of these resources will be probably useful even in a nonpandemic future.

Objectives: The aim of this study was to evaluate electrophysiological and audiological findings in a prelingually late implanted patient, in two consecutive follow-ups: 3 months after cochlear implant (CI) activation and 1 year later.Methods: As an electrophysiological evaluation, the event-related potentials (ERPs) N100, N200-P300 were used. The P300 wave is an objective measure of the central auditory function. It reflects the cortical activity involved during attention, discrimination, memory, integration and decision-making skills and it is a measure of speech discrimination and linguistic recognition. Pure tone audiometry, speech perception tests and electrophysiological examination were performed at 3 and 15 months post-CI activation.Result and Discussion: The N100 and N200 latencies were very similar in both follow-ups, whereas P300 latency decreased significantly 15 months postactivation, reaching a value close to normality. This finding was related to an increase in audiometric and speec...

Two hundred and fifty years have passed since the birth of Ludwig van Beethoven, and the enigma about his hearing loss and overall health status seems to be not completely solved. However, the admission to the hospital of a 64-year-old woman in 2018 with symptoms extremely similar to those experienced by the great composer may add further evidence to a theory previously underestimated. The health issues of the modern patient were found to be due to chronic lead intoxication. The lead was released during daily cooking using a ceramic-coated frying pan with worn surface that poisoned her breakfast most probably for years. Abdominal pain, asthenia, and hearing loss affecting the high frequencies with a many impact on speech intelligibility tormented the patient, as they had Beethoven. An extensive review of the music and medical literature was performed, as well as re-examination of manuscripts, correspondence, and autopsy reports of the famous composer; and great similarities have been found. The soundness of the most-cited classical theories about Beethoven's hearing loss will be discussed. After close scrutiny of the theories, our analysis points toward a progressive sensorineural hearing loss due to lead intoxication as the most probable cause of not only Beethoven's hypoacusis but his overall health status as well. Laryngoscope, 131:179-185, 2021.

Feeding and swallowing impairment are present in up to 80% of oculo-auriculo-vertebral spectrum (OAVS) patients. Salivary gland abnormalities have been reported in OAVS patients but their rate, features, and relationship with phenotype severity have yet to be defined.Parotid and submandibular salivary gland hypo/aplasia was evaluated on head MRI of 25 OAVS patients (16 with severe phenotype, Goldenhar syndrome) and 11 controls.All controls disclosed normal salivary glands. Abnormal parotid glands were found exclusively ipsilateral to facial microsomia in 21/25 OAVS patients (84%, aplasia in six patients) and showed no association with phenotype severity (14/16 patients with Goldenhar phenotype vs 7/9 patients with milder phenotype, p = 0.6). Submandibular salivary gland hypoplasia was detected in six OAVS patients, all with concomitant ipsilateral severe involvement of the parotid gland (p 0.001). Submandibular salivary gland hypoplasia was associated to Goldenhar phenotype (p 0.05). Parotid gland abnormalities were associated with ipsilateral fifth (p 0.001) and seventh cranial nerve (p = 0.001) abnormalities. No association was found between parotid gland anomaly and ipsilateral internal carotid artery, inner ear, brain, eye, or spine abnormalities (p 0.6).Salivary gland abnormalities are strikingly common in OAVS. Their detection might help the management of OAVS-associated swallowing and feeding impairment.

Radiological imaging can reveal crucial information when dealing with single-side deafness. In early childhood, this condition is a challenging task for any clinician due to poor reliability of the...

The objective of this study was to ascertain the effects of competitive noise on second language perception skills of sequentially bilingual children and to compare the results with those relating to matched monolingual peers. Fifteen bilingual immigrant children (aged 6-10 years) (BL) learning through their second language (L2), which was Italian, were matched with 15 peers who only spoke Italian (IO). All immigrant children had arrived in Italy and were exposed to L2 after their 4Percezione del parlato nel rumore in bambini bilingue sequenziali.Obiettivo dello studio è stato quello di valutare gli effetti del rumore sulle capacità di percezione linguistica di bambini bilingue sequenziali e di confrontare i risultati con quelli relativi a coetanei monolingue. Sono stati inclusi nello studio quindici bambini immigrati bilingue, di età compresa tra i 6 e i 10 anni (BL), la cui seconda lingua era l’italiano (L2) e 15 bambini di età corrispondente che parlano solo italiano (IO). Tutti i bambini erano arrivati in Italia e sono stati esposti a L2 dopo il loro quarto anno di vita. Il rapporto tra segnale e rumore (SNR) necessario per ottenere una intelligibilità del 50% – la soglia di ricezione vocale (SRT) – per le parole italiane è stato misurato utilizzando la versione italiana di ICRA noise, grazie a un metodica adattativa. I bambini sono stati inoltre sottoposti a un secondo test che prevedeva la presentazione di frasi in lingua italiana con un mascheramento informativo controlaterale, per escludere eventuali problemi legati a deficit di memoria, attenzione o altri disordini di processazione uditiva centrale. La SNR era pari a -2,7 dB (SD 1,7; range: -5,5/+0,9) per il gruppo BL e -5,3 dB (SD 2,3; range: -8,8/-0,9) per il gruppo IO (p0,01). Nel test con il mascheramento informativo controlaterale la SNR era -32,8 dB (SD 2,4; range: -36,1/-28,2 per il gruppo BL e -27,8 dB (SD 2,1; range: -31,7/-24,1) per il gruppo OI (p0,01). I bambini bilingue sequenziali esposti a L2 a 4 anni hanno dimostrato una percezione del parlato nel rumore peggiore rispetto ai loro coetanei monolingue. D’altra parte, il gruppo BL ha dimostrato una migliore attenzione condivisa nelle prove con un il mascheramento controlaterale informativo (p0,01).

In the last 20 years, neonatal survival has progressively increased due to the constant amelioration of neonatal medical treatment and surgical techniques. Thus, the number of children with congenital malformations and severe chronic pathologies who need rehabilitative care has progressively increased. Rehabilitation programs for paediatric patients with disorders of voice, speech and language, communication and hearing, deglutition and breathing are not widely available in hospital settings or in long-term care facilities. In most countries, the number of physicians and technicians is still inadequate; moreover, multidisciplinary teams dedicated to paediatric patients are quite rare. The aim of the present study is to present some new trends in ENT paediatric rehabilitation.Negli ultimi 20 anni il miglioramento dell’assistenza neonatale ha determinato un progressivo aumento dei bambini che sopravvivono in presenza di gravi malformazioni o patologie congenite. Questi bambini richiedono una riabilitazione prolungata, talora multidisciplinare e complessa. Purtroppo, un’organizzazione adeguata alla riabilitazione della disfagia, dei disturbi della comunicazione e della respirazione non è sempre disponibile, non è sempre coordinata in equipe multidisciplinari che operino sia negli ospedali che sul territorio e non è facile mantenere tutte le figure professionali coinvolte al passo con le sempre più rapide innovazioni. Scopo del presente lavoro è presentare un aggiornamento su alcuni aspetti tuttora controversi della riabilitazione in età pediatrica.

Objectives Congenital Aural Atresia (CAA) is a deformity of the external ear and it is commonly associated with malformations of middle and inner ear and, in some cases, with other facial deformities. Very few assessment measures exist for evaluating the functional impairment in children with CAA. Purpose of this study is to introduce and describe an assessment Checklist, (nominated FOS Checklist) that covers feeding abilities (F), oralmotor skills (O), communication/language development (S) in children with CAA. FOS wants to offer a range of assessment providing a profile of the child in comparison to hearing peers and it aims to make clinicians able to identify additional problems and areas of difficulties as well as specific abilities and skills. Secondary, we want to investigate the presence of correlations between disorders and side of CAA. Methods a new Checklist (FOS Checklist) was administered to 68 children with CAA. Results Feeding abilities are age-adequate in 94,3% of all patients. 54,4% of all patients are in need for further assessment of their oral-motor skills; delays in language development were found in 44,1% of cases. Orofacial development delays have been observed in 57.2% of subjects among the bilateral CAA group, in 53.9% among the right CAA group and in 53.4% among the left CAA group. Patients referred for further language evaluation were 42,9% in the bilateral CAA group, 33.3% in the right CAA group and 33.3% in the left CAA group. According to the χ2 analysis, referral for further assessment is independent from side of aural atresia. Conclusions Subjects with bilateral CAA are more likely to be referred for further assessment, both for oral motor aspects and for speech perception and language development. However, there is not a significant statistical difference between the performances of children with bilateral or unilateral CAA. FOS Checklist is simple, reliable and time effective and can be used in everyday clinical practice. FOS enable clinicians to identify additional problems and areas of difficulties as well as specific abilities and skills; moreover, FOS allows to determine appropriate referrals and intervention strategies.

Mutations in mitochondrial DNA (mtDNA) have been shown to be an important cause of sensorineural hearing loss (SNHL). In this study, we performed a clinical and genetic analysis of 169 hearing-impaired patients and some of their relatives suffering from idiopathic SNHL, both familial and sporadic. The analysis of four fragments of their mtDNA identified several polymorphisms, the well known pathogenic mutation, A1555G, and some novel mutations in different genes, implying changes in the aminoacidic sequence. A novel sporadic mutation in 12S rRNA (MT-RNR1), not previously reported in the literature, was found in a case of possible aminoglycoside-induced progressive deafness.

Objective Electrophysiological evaluation is a fundamental procedure for the diagnostic assessment of hearing loss during infancy; in these cases, information concerning threshold level and auditory perception is particularly useful to establish a correct hearing rehabilitation program (hearing aids and cochlear implants). Purpose of this study is to underline the role of auditory brainstem responses (ABR) and electrocochleography (EcochG) in the definition of hearing loss in a selected group of children, referred to the Audiology Department of the University Hospital of Ferrara, for a tertiary level audiological assessment. Methods A retrospective study of the paediatric patient database at the Audiology Department of the University Hospital of Ferrara has been performed. In a period between January 2000 and December 2007, a total of 272 paediatric cases have been identified (544 ears). An EM 12 Mercury apparatus has been used for the electrophysiological threshold identification (ABR and EcochG). Recordings were carried out under general anaesthesia, in a protected enviroment. Results In 19 of the 272 paediatric cases selected—38 ears (7%), the results of threshold evaluation through ABR were uncertain. The Ecochg recording resulted crucial for the final diagnosis in terms of definition of the hearing threshold level, and it was then possible to ensure the better hearing rehabilitation strategy. Conclusions ABR has to be considered the first choice in hearing assessment strategy, either for screening or for diagnosis in newborns as well as in non-collaborating children; ECochG still may be considered a reliable diagnostic tool.

Objective Purpose of this paper is to analyse OTOF gene in a series of subjects affected by auditory neuropathy. Methods Four children showing mild to profound prelingual deafness, confirmed by the absence of a clear and detectable responses at auditory brainstem responses (ABR), associated with the presence of bilateral OAE, were enrolled in the study. Results and Conclusions Genetic analysis identified five new mutations (a nonsense, a small and a large deletion and two splicing site mutations), and one missense mutation (F1795C) previously described. These results further confirm the role of OTOF gene in auditory neuropathy. In the absence of a context of neurological syndrome, the combination of absent ABR and positive OAE responses should lead to an auditory neuropathy diagnosis and to a mutational screening in OTOF.

Introduction This study concerns a case series of 23 infants with a diagnosis of severe-to-profound hearing loss at 3 months old, who significantly improved (even reaching a normal auditory threshold) within their first year of life. Methods All infants were routinely followed up with audiological tests every 2 months after being fitted with hearing aids as necessary. A reliable consistency between the various test findings (DPOAE, ABR, behavioral responses, CAEP and ECoG) clearly emerged in most cases during the follow-up, albeit at different times after birth. Results The series of infants included 7 cases of severe prematurity, 6 of cerebral or complex syndromic malformations, 5 healthy infants, 2 with asymptomatic congenital CMV infection, and 1 case each of hyperbilirubinemia, hypoxia, and sepsis. All term-born infants showed a significant improvement over their initial hearing threshold by 6 months of age, while in most of those born prematurely the first signs of threshold amelioration occurred beyond 70 weeks of gestational age, and even beyond 85 weeks in one case. Conclusions Cochlear implantation (CI) should only be considered after a period of auditory stimulation and follow-up with electrophysiological and behavioral tests, and an accurate analysis of their correlation. In our opinion, CI can be performed after a period of 8 months in all term-born infants with persistent severe-to-profound hearing loss without risk of diagnostic error, whereas the follow-up for severely preterm infants should extend to at least 80 weeks of gestational age.

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/GJB6and, additionally, in selected cases,SLC26A4or 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 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.

The online version of the original article can be found at http://dx.doi.org/10.1007/s00234-017-1795-1

An epidemiological study comparing speech audiometry with self-assessed hearing disability and an analysis of other factors influencing the quality of life was conducted. In the Veneto region (Italy), a representative sample of 2700 independently living individuals of 65 years of age and older was selected for the study. All participants were administered a comprehensive questionnaire and a brief examination at their home, including a general physical examination, speech audiometry, Sanders' Speech Disability test, part I and 111, Mini Mental State Examination, CES-D scale for depression, visual acuity, self-reported diseases and physical function. Auditory function was worst in the older individuals: auditory performance was within acceptable limits up to the 75–79 age group, while it rapidly deteriorates in the older groups. This trend is consistent with self-reported auditory disability (Sanders' test). A detailed analysis of the type of errors made in the speech audiometry was conducted for each subje...

Objectives To delineate the diagnostic and rehabilitative aspects of syndromes that have overlapping features, we present the cases of two unrelated Caucasian males affected by hearing impairment, preauricular pits and cervical fistulae. Specific findings that are helpful in the diagnosis and management of EYA1-related disorders are highlighted. Methods Genetic, otologic, imaging, eye and renal evaluations were conducted to achieve a detailed and comprehensive assessment, leading to the most accurate diagnosis and appropriate treatment. A literature review was also carried out. Results Diagnostic criteria indicated that the two patients were affected by BOS1 (Branchio-Otic Syndrome 1). We also identified a novel sporadic missense mutation in the EYA1 gene: p.G533R (c.1597G > A, NM_000503.4 ), a highly conserved, heterozygotic amino acid substitution. In the other case, we identified the p.X593QextX6 (c.1777T > A, NM_000503.4 ) substitution. Both variants lead to isoform 1 (EYA1B and EYA1C) which is composed of 592 amino acids. Clinical and in silico evidence suggests a pathogenic role for the new mutations. Imaging evaluation revealed a complex pathology, characterized by external, inner and middle ear malformations, without renal anomalies. Conclusions Our results demonstrate the importance of considering the imaging evaluation and the complete DNA sequencing of the EYA1 gene for the differential diagnosis of deafness and related branchio-oto-renal disorders.

The GJB2 gene is located on chromosome 13q12 and it encodes the connexin 26, a transmembrane protein involved in cell–cell attachment of almost all tissues. GJB2 mutations cause autosomal recessive (DFNB1) and sometimes dominant (DFNA3) non-syndromic sensorineural hearing loss. Moreover, it has been demonstrated that connexins are involved in regulation of growth and differentiation of epidermal tissues. Hence, mutations in GJB2 gene, which is responsible for non-syndromic deafness, may be associated with an abnormal skin and hair phenotype. We analyzed hair samples from 96 subjects: a study group of 42 patients with hearing impairments of genetic origin (38 with a non-syndromic form, 4 with a syndromic form), and a control group including 54 people, i.e. 43 patients with other, non-genetic hearing impairments and 11 healthy volunteers aged up to 10 years old. The surface structure of 49 hair samples was normal, whereas in 45 cases it was altered, with a damaged appearance. Two hair samples were considered unclassifiable: one from the patient heterozygotic for the pendrin mutation ( Fig. 2 C), the other from a patient from Ghana with a R134W mutation ( Fig. 2 D). Among the 43 altered hair samples, 31 belonged to patients with connexin mutations and the other 12 came from patients without connexin mutations.

A B S T R A C T Objectives: Cochlear implantation is a relatively safe procedure with a low complication rate. The overall rate of complications among cochlear implant patients ranges from 6% to 20%. Major complications are those that are life-threatening or require surgery, whereas minor complications are those that can be medically treated. Nonetheless, certain complications, even if highly rare, may require specific investigations and treatments. Among these rare complications are those with endocochlear involvement, such as cochleitis or labyrinthitis, with fibrosis or ossification that could lead to explantation. The aims of the present study were to report a particular case of post-operative cochleitis and to review the rate of complications after cochlear implantation, emphasising those conditions with proven endocochlear involvement. Methods: We refer to the case of an eight-year-old Italian boy affected by the sudden onset of headache, ipsilateral otalgia and facial paresis, who presented to our clinic for inexplicable worsening of the performance of his implant and his residual hearing, six years after surgery. A complete investigation including (clinical history, routine, autoimmune and serological blood tests, electrophysiological measurements from the cochlear implant and neuroimaging) was performed and is herein described. Additionally, a comprehensive review of the literature was conducted using internet search engines; 274 papers were selected, 88 of which were best suited to our purposes. Results: In our case, the progression of the symptoms and the performance decrement required explantation, followed by a complete recovery. Reviewing the literature revealed only three reports concerning cases of proven endocochlear phlogosis that required revision surgery. Wound swelling/ infection and vertigo remain the two most common complications of cochlear implantation. Failure of the device is the third most frequent complication (10.06% of all complications and 1.53% of cochlear implantations). Other rare conditions (such as granulating labyrinthitis with cochlear fibrosis, ossification and erosion, silicone allergy and the formation of a biofilm around the internal device) are possible and unpredictable. Although rare (approximately 1%), such cases may require explantation. Conclusions: Despite efforts by both surgeons and manufacturers, device-related and surgical complications still occur. These and other rare conditions demand specific management, and their frequency may be underestimated. Further studies are needed to assess more realistic rates of complications and devise more efficient strategies for early diagnosis and treatment.

Objectives: Several studies have demonstrated a high prevalence of voice disorders in teachers, together with the personal, professional and economical consequences of the problem. Good primary prevention should be based on 3 aspects: 1) amelioration of classroom acoustics, 2) voice care programs for future professional voice users, including teachers and 3) classroom or portable amplification systems. The aim of the study was to assess the benefit obtained from the use of portable amplification systems by female primary school teachers in their occupational setting. Materials and Methods: Forty female primary school teachers attended a course about professional voice care, which comprised two theoretical lectures, each 60 min long. Thereafter, they were randomized into 2 groups: the teachers of the first group were asked to use a portable vocal amplifier for 3 months, till the end of school-year. The other 20 teachers were part of the control group, matched for age and years of employment. All subjects had a grade 1 of dysphonia with no significant organic lesion of the vocal folds. Results: Most teachers of the experimental group used the amplifier consistently for the whole duration of the experiment and found it very useful in reducing the symptoms of vocal fatigue. In fact, after 3 months, Voice Handicap Index (VHI) scores in "course + amplifier" group demonstrated a significant amelioration (p = 0.003). The perceptual grade of dysphonia also improved significantly (p = 0.0005). The same parameters changed favourably also in the "course only" group, but the results were not statistically significant (p = 0.4 for VHI and p = 0.03 for perceptual grade). Conclusions: In teachers, and particularly in those with a constitutional weak voice and/or those who are prone to vocal fold pathology, vocal amplifiers may be an effective and low-cost intervention to decrease potentially damaging vocal loads and may represent a necessary form of prevention.

Our objective is to determine the complication rate in a population of infants, children, adolescents and adults, from a University Hospital Cochlear Implant program and to discuss their causes and treatments. The methods include a retrospective study of 438 consecutive patients in a tertiary referral centre, the Audiology Department of the University Hospital of Ferrara. All patients receiving cochlear implants, between 1 January 2003 and 31 December 2009, have been included. All complications and treatments were systematically reviewed with an average duration of follow-up of 46 months (range 10–84 months). The results reveal that the overall rate of complications in our group was 9.1% (40 of 438), and most of them were minor. Wound swelling and infections represent the most common complication occurred. There were no cases of transient or permanent facial palsy following surgery, and also we did not register any case of postsurgical meningitis. Thirteen patients (3.0%) underwent explantation followed by reimplantation. In conclusion, we find that Cochlear implantation is a safe low-morbility technique with a relatively low complication rate in the presented population.

Objectives Cochlear-implanted deaf children having additional disabilities may develop speech perception and language skills at a slower pace than their implanted peers without such disorders. Nevertheless, it has been shown that, even for these special cases, cochlear implantation (CI) provides benefits for a larger range of neuropsychological functions including social and relational skills. These benefits are frequently mentioned by parents, but rarely objectively measured by tests. This article presents a new evaluation tool aimed at assessing the global benefits offered by CI in these special cases. Design The new tool has been designed as a closed-format questionnaire, divided into five areas. It is based on observing the frequency of preselected behaviors in daily activities, which imply specific social, neuropsychological, and perceptual skills. The questionnaire has been presented to the parents of 50 deaf children with additional disabilities, before and at least 6 months after CI. Results The data show significant improvements in all investigated areas. However, not all skills improve in the same way, and only those skills related to language and communication correlate positively with time after implantation. The present article further discusses changes in skills for which parents have higher expectations, such as the preferred communication mode, speech intelligibility, and the ability to communicate on the telephone. Conclusions The questionnaire has a simple-to-use format, and it has been proven to be sufficiently sensitive for the detection of changes in each examined area. Because the questionnaire is based on observed behaviors, it can be used even when other existing tests involve tasks that are too complex for these children.

Objectives Mutations in the SLC26A4 gene (7q22.3–7q31.1) are considered one of the most common causes of genetic hearing loss. There are two clinical forms related to these mutations: syndromic and non-syndromic deafness. The first one is named Pendred Syndrome (PS) when deafness is associated with thyroid goiter; the second is called DFNB4, when no other symptoms are present. Both are transmitted as an autosomal recessive trait, but simple heterozygotes can develop both forms of deafness. Actually it is thought that Pendred Syndrome occurs when both alleles of SLC26A4 gene are mutated; DFNB4 seems due to monoallelic mutations. PS and DFNB4 can be associated with inner ear malformations. In most of the cases (around 80%), these consist in Enlarged Vestibular Aqueduct (EVA). EVA can also be present without SLC26A4 mutations. Understanding the role of new SLC26A4 variants should facilitate clinical assessment, as well as diagnostic and therapeutic approaches. This investigation aims to detect and report genetic causes of two unrelated Italian boys with hearing loss. Methods Patients and family members underwent clinical, audiological and genetic evaluations. To identify genetic mutations, DNA sequencing of SLC26A4 gene (including all 21 exons, exon-intron boundaries and promoter region) was carried out. Results Both probands were affected by congenital, progressive and fluctuating mixed hearing loss. Temporal bone imaging revealed a bilateral EVA with no other abnormalities in both cases. Probands were heterozygotes for previously undescribed mutations in the SLC26A4 gene: R409H/IVS2+1delG (proband 1) and L236P/K590X (proband 2). No other mutations were detected in GJB2 , GJB6 genes or mitochondrial DNA (mit-DNA). Conclusions The IVS2+1delG and K590X mutations have not yet been described in literature but there is some evidence to suggest that they have a pathological role. The results underlined the importance of considering the complete DNA sequencing of the SLC26A4 gene for differential molecular diagnosis of deafness, especially in those patients affected by congenital, progressive and fluctuating mixed hearing loss with bilateral EVA.