Enlarged vestibular aqueduct as a cause of postneonatal deafness.

INTRODUCTION: The enlarged vestibular aqueduct (EVA) is the most frequent malformation of the inner ear associated with sensorineural hearing loss (5-15%). It exists when the diameter in imaging tests is greater than 1.5 mm at its midpoint. The association between hearing loss and EVA has been described in a syndromic and non-syndromic manner. It can appear as a familial or isolated form and the audiological profile is highly variable. The gene responsible for sensorineural hearing loss associated with EVA is located in the same region described for Pendred syndrome, where the SCL26A4 gene is located. OBJECTIVE: To describe a series of children diagnosed with EVA in order to study their clinical and audiological characteristics, as well as the associated genetic and vestibular alterations. METHOD: Retrospective study of data collection of children diagnosed with EVA, from April 2014 to February 2023. RESULTS: Of the 17 cases, 12 were male and 5 were female. 5 of them were unilateral and 12 bilateral. In 5 cases, a cranial traumatism triggered the hearing loss. Genetic alterations were detected in 3 cases: 2 mutations in the SCL26A4 gene and 1 mutation in the MCT1 gene. 13 patients (76.5%) were rehabilitated with hearing aids and 9 of them required cochlear implantation. DISCUSSION: The clinical importance of AVD lies in the fact that it is a frequent finding in the context of postneonatal hearing loss. It is convenient to have a high suspicion to diagnose it with imaging tests, to monitor its evolution, and to rehabilitate early.

Comparison of the MIPS technique versus linear incision with tissue preservation in osseointegrated implants in the Ponto model®.

BACKGROUND AND OBJECTIVES: The surgery of osseointegrated implants has undergone different modifications over the years with the aim of achieving better results and facilitating the surgical technique. Today the most commonly used technique is the linear incision with tissue preservation and placement of the abutment and implant. The long-term success of this technique has served as the basis for the development of the so-called minimally invasive surgical approach (MIPS). This study compares the short-, medium- and long-term results between the classic linear incision technique and the MIPS technique. MATERIAL AND METHODS: A prospective study was conducted on patients who had an osseointegrated implant placed between February 2016 and February 2020. A total of 59 surgeries were performed, 32 surgeries according to the linear incision technique with tissue preservation and 27 with MIPS technique. Outcomes were evaluated at one week, one month and one year. RESULTS: Statistically significant differences were achieved between the 2 groups at one week after surgery. Eighty per cent of the MIPS patients had Holgers grades 0-1 compared to 35% of the linear technique patients (p = 0.001). No statistically significant differences were observed at one month (p = 0.457) and one year (p = 0.228). One case with grade 4 was recorded which resulted in implant extrusion one month after surgery with the MIPS technique. A new osseointegrated implant was placed 2 months after the fall using the same MIPS technique with good results. We were also able to verify that the duration of surgery was much shorter with the MIPS technique and better tolerated in terms of postoperative discomfort by the patient. CONCLUSIONS: In our experience, the MIPS technique is the technique of choice for surgery of osseointegrated Ponto model implants as it is simpler, faster and presents fewer problems in the immediate postoperative period, with similar long-term postoperative results.

Dysphonia and other voice alterations associated with COVID-19: Systematic review.

Among the symptoms presented by patients with SARS-Cov-2 infection, we can find various otorhinolaryngological alterations. Dysphonia appears in up to 79% of infected patients during the acute phase. Dysphonia can also occur as a sequelae, often underestimated, possibly due to its appearance along with other symptoms, also in patients after prolonged intubation or tracheostomy. We present a systematic review of the literature with a bibliographic search in PubMed, Cochrane and Google Scholar, with MESH terms including studies in English and Spanish. The results of the studies found and the vocal manifestations in patients during COVID-19 disease and the consequences produced are analysed. Dysphonia is an acute manifestation of COVID-19 with alterations in aerodynamic and acoustic analysis and in fibrolaryngoscopy. Post-COVID dysphonia can be a persistent symptom that is often underestimated, requiring multidisciplinary management and speech therapy intervention. Laryngeal sequelae are common in post-intubation or post-tracheostomy patients and are related to intubation time, tube number, pronation and respiratory sequelae.

Deaf children with additional disabilities (AD+): CODEPEH recommendations.

Approximately 40% of children with deafness have an additional developmental disorder or major medical problem, which may delay the age of diagnosis of hearing loss and/or require intervention by other professionals. This situation is referred to as "deafness with added disability" (AD+). The reason why the population of hearing-impaired children is more likely to have associated added disabilities is that the risk factors for hearing impairment overlap with those for many other disabilities. These factors can influence various aspects of development, including language acquisition. It is important to check that appropriate care is received, the effectiveness of hearing aids or implants, as well speech therapy intervention strategies, and family adherence to sessions and appointments. The challenge posed by AD+ is early detection, to allow early and appropriate intervention, and the need for fluid transdisciplinary collaboration between all professionals involved, together with the involvement of the family.

Universal neonatal hearing screening and delayed hearing loss or late-developmental hearing loss.

OBJECTIVE: To determine the percentage of children with permanent bilateral postnatal hearing loss in order to study its incidence, related risk factors, diagnosis and treatment. METHODS: Retrospective study to collect data on children diagnosed with hearing loss outside the neonatal period in the Hearing Loss Unit of the Hospital Universitario Central de Asturias, from April 2014 to April 2021. RESULTS: 52 cases met the inclusion criteria. The detection rate of congenital hearing loss in the neonatal screening programme in the same study period was 1.5 children per thousand newborns per year, adding postnatal hearing loss results in a rate of infant bilateral hearing loss of 2.7 children per thousand (55.5% and 44.4% respectively). Thirty-five children presented risk factors for hearing loss, of which 23 were at retrocochlear risk. The mean age at referral was 91.9 (18-185) months. Hearing aid fitting was indicated in 44 cases (84.6%). Cochlear implantation was indicated in eight cases (15.4%). DISCUSSION: Although congenital hearing loss accounts for the majority of childhood deafness, postnatal hearing loss has a significant incidence. This may be mainly due to: (1) that hearing impairment may arise in the first years of life, (2) that mild hearing loss as well as hearing loss in severe frequencies are undetectable by neonatal screening in some cases, (3) that some children may have false negative results. CONCLUSION: postnatal hearing loss requires identification of risk factors and long-term follow-up of children with hearing loss, as it needs to be detected and treated early.

Ototoxicity in childhood: Recommendations of the CODEPEH (Commission for the Early Detection of Childhood Hearing Loss) for prevention and early diagnosis.

Ototoxicity is defined as the damage, reversible or irreversible, produced in the inner ear by various substances that are called ototoxic and that can cause hearing loss and/or an alteration of the vestibular system. Permanent hearing loss significantly affects quality of life and is especially important in children. The lack or delay in its detection is frequent, since it often progresses in an inconspicuous manner until it affects communication and overall development. This impact can be minimized by following a strategy of audiological monitoring of ototoxicity, which allows for its early detection and treatment. This document recommends that children who are going to be treated with cisplatin or aminoglycosides be monitored. This CODEPEH review and recommendation document focuses on the early detection, prophylaxis, otoprotection, monitoring and treatment of ototoxicity caused by aminoglycosides and platinum-based antineoplastics in the paediatric population.

New-born Hearing Screening Programmes in 2020: CODEPEH Recommendations.

Programmes for early detection of congenital hearing loss have been successfully implemented mainly in developed countries, after overcoming some conceptual errors argued against their implementation and some criticism of their efficacy. However, some difficulties and weaknesses are still identified in these programmes: the detection of late-onset hearing loss and the percentage of children who did not pass the screening and did not complete the process of diagnosis and treatment, these being cases that are lost in the process. The purpose of this Document is to analyse these problems to determine areas for improvement and to emphasize one of the basic principles for the success of the programmes: continuous training for the interdisciplinary team. The result of the review process carried out by CODEPEH has been drafted as Recommendations for updating the Programmes with the evidence of the last decade, including advances in screening technology, the impact of the present knowledge on congenital infection by cytomegalovirus, genetic hearing loss research and control systems of lost to follow-up cases, treatment and follow up.

Development and validation of the Spanish abbreviated version of the Transsexual Voice Questionnaire for Male-to-Female Transsexuals. / Desarrollo y validación de la versión abreviada del Transsexual Voice Questionnaire for Male-to-Female Transsexuals en español.

OBJECTIVE: The aim of this study was to create and validate an abbreviated version of the Spanish Transsexual Voice Questionnaire for Male-to-Female Transsexuals (SvTVQMtF). SETTING: The study was conducted by two referral hospitals for voice feminization surgery and by a university department of psychology and speech therapy, all in Spain. SUBJECTS AND METHODS: We prospectively studied 51 male-to-female transsexuals who underwent voice feminization surgery between January 2017 and December 2018. The SvTVQMtF was completed before and after surgery, and the 10 items with the greatest variation were selected by clinical consensus of an expert panel to develop the short version of the SvTVQMtF (SvTVQMtF-10). The correlation between the total score and the score for each item on the SvTVQMtF and the SvTVQMtF-10 was studied. The internal consistency of the SvTVQMtF-10 was analysed. RESULTS: Good correlation (Pearson coefficient above .90) was found between the two questionnaires. A significant correlation was found between the total SvTVQMtF-10 score and the score for each item. A significant negative correlation was found between the SvTVQMtF and fundamental frequency after voice feminization surgery. Cronbach's α was .79. CONCLUSION: The SvTVQMtF-10 is a valid short version of the SvTVQMtF and can be used to quantify voice-related quality of life in MtF transsexuals.

Ototoxicity in cancer survivors: Experience and proposal of a surveillance protocol.

INTRODUCTION: Ototoxicity occurs in different percentages in patients after treatment with platinum-based chemotherapy or cranial radiation therapy. The aim of this study was to present our experience in ototoxicity monitoring. MATERIAL AND METHODS: A review was made of the registry of paediatric cancer patients referred to the Children's Hearing Loss Unit from 1999 to 2019. RESULTS: Of the 46 patients referred to this unit, 41 had received platinum as part of their treatment, 17 patients underwent neurosurgery, and 18 patients received cranial radiation therapy. An anamnesis and otoscopy were performed on all of them, and the monitoring was carried out with tone-verbal audiometry and/or distortion products. Hearing loss was observed in eight patients (21.05% of patients referred for audiological follow-up) as a consequence of the treatment. It was impossible to determine the audiological situation in eight patients at the end of treatment. Hearing aid adaption was necessary in two patients. In coordination with Paediatric Oncology, a change from cisplatin to carboplatin due to bilateral grade two ototoxicity was considered appropriate during treatment in one patient. CONCLUSION: Adequate coordination with Paediatric Oncology is essential to carry out active surveillance for ototoxicity and to modify, if possible, the dosage or type of chemotherapy in case hearing is affected. In our experience, and following current recommendations, a pre-treatment assessment is usually performed, as well as monitoring during treatment, at the end of treatment, and annually thereafter due to the risk of a later development of hearing loss.

Early diagnosis and treatment of unilateral or asymmetrical hearing loss in children: CODEPEH recommendations. / Diagnóstico y tratamiento precoz de la hipoacusia unilateral o asimétrica en la infancia: recomendaciones CODEPEH.

The aim of this document is to improve the management and the treatment of unilateral or asymmetrical hearing loss in children. One in one thousand newborn infants has unilateral hearing loss and this prevalence increases with age, due to cases of acquired and delayed-onset hearing loss. Although the impact on the development and learning processes of children of these kinds of hearing loss have usually been minimized, if they are not treated they will impact on language and speech development, as well as overall development, affecting the quality of life of the child and his/her family. The outcomes of the review are expressed as recommendations aimed at clinical diagnosis and therapeutic improvement for unilateral or asymmetrical hearing loss.

Aphthous Stomatitis and Laryngitis, Another Form of Presentation of an IgG4-Related Disease? / Aftosis oral y laringitis, ¿otra forma de presentación de la enfermedad relacionada con IgG4?

IgG4-related disease is characterized by a lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis and obliterative phlebitis. It can present as parotid gland enlargement, tubulointerstitial nephritis, retroperitoneal fibrosis or pancreatitis, although nearly any organ can be affected. We report the case of a 37-year-old woman who presented with severe dysphonia and recurrent painful aphthous ulcers, with histopathological findings at the level of the larynx that revealed a lymphoplasmacytic infiltrate and IgG4 positivity. In addition, extensive studies were performed to rule out other diseases. Thus the diagnosis was IgG4-related laryngitis, an exceptional finding in the literature.

[Ototoxicity in cancer survivors: experience and proposal of a surveillance protocol]. / Ototoxicidad en pacientes oncológicos: experiencia y propuesta de un protocolo de vigilancia.

INTRODUCTION: Ototoxicity occurs in different percentages in patients after treatment with platinum-based chemotherapy or cranial radiation therapy. The aim of this study was to present experience in ototoxicity monitoring. MATERIAL AND METHODS: A review was made of the registry of paediatric cancer patients referred to the Children's Hearing Loss Unit from 1999 to 2019. RESULTS: Of the 46 patients referred to this unit, 41 had received platinum as part of their treatment, 17 patients underwent neurosurgery, and 18 patients received cranial radiation therapy. An anamnesis and otoscopy were performed on all of them, and the monitoring was carried out with tone-verbal audiometry and/or distortion products. Hearing loss was observed in eight patients (21.05% of patients referred for audiological follow-up) as a consequence of the treatment. It was impossible to determine the audiological situation in eight patients at the end of treatment. Hearing aid adaption was necessary in two patients. In coordination with Paediatric Oncology, a change from cisplatin to carboplatin due to bilateral grade two ototoxicity was considered appropriate during treatment in one patient. CONCLUSION: Adequate coordination with Paediatric Oncology is essential to carry out active surveillance for ototoxicity and to modify, if possible, the dosage or type of chemotherapy in case hearing is affected. In our experience, and following current recommendations, a pre-treatment assessment is usually performed, as well as monitoring during treatment, at the end of treatment, and annually thereafter due to the risk of a later development of hearing loss.

Application of Wireless Contralateral Routing of Signal (CROS) Technology in Unilateral Cochlear Implant Users. / Aplicación de la tecnología de enrutamiento inalámbrico contralateral de la señal (CROS) en usuarios de implante coclear unilateral.

INTRODUCTION: Single cochlear implantation usually provides substantial speech intelligibility benefits but bilaterally deaf, unilaterally implanted subjects will continue to experience limitations due to the head shadow effect, like single-sided deaf individuals. In the treatment of individuals with single-sided deafness one option is contralateral routing of signal (CROS) devices, which constitute a non-surgical intervention of the second ear in unilaterally implanted individuals. METHOD: Twelve experienced adult cochlear implant users with Naída Q70 processor and the CROS device used in combination participated in the study. For the study 3 conditions were provided: cochlear implant only, omnidirectional microphone mode (CROS deactivated); cochlear implant plus CROS activated, omnidirectional microphone mode and cochlear implant plus CROS activated, UltraZoom mode. Speech reception thresholds were determined in quiet and noise. Subjective feedback regarding the practical usability of the CROS device and the perceived benefit were collected. RESULTS: There was a 27.6% improvement in speech understanding in quiet and 32.5% improvement in noise when CROS device was activated. Using advanced directional microphones, a statistically significant benefit of 35% was obtained. The responses to the questionnaires revealed that the subjects perceived benefit in their everyday lives when using the CROS device with their cochlear implants. CONCLUSION: The investigated CROS device used by unilateral CI recipients in cases where bilateral implantation is not an option provides both subjective and objective speech recognition benefit when the signal is directed to the CROS device. Unfavourable conditions where speech is presented from the cochlear implant side and noise from the CROS side or diffusely were not included in this evaluation since the CROS device adds additional noise and performance is expected to decrease as has previously been shown.

[Validation of the Spanish parent satisfaction questionnaire with neonatal hearing screening programs]. / Validación del cuestionario de satisfacción de los padres con los programas de cribado auditivo neonatal en español.

INTRODUCTION: Although measuring parent satisfaction has been recommended as one of the important outcome measures in assessing the effectiveness of neonatal hearing screening programs, there are few published studies investigating this issue. OBJECTIVES: To validate the Spanish version of the Parent Satisfaction Questionnaire with Neonatal Hearing Screening Program (PSQ-NHSP). METHODS: 112 parents whose children had received hearing screening participated in this study. RESULTS: High levels of satisfaction were reported with more than 90% of parents satisfied with all aspects of the program. The psychometric properties of the Spanish version of the PSQ-NHSP were analyzed and demonstrated good internal consistency (alpha=0.75). Construct validity was indicated by a significant positive relationship between overall satisfaction and the three specific dimensions in the questionnaire. DISCUSSION: The development of a valid and reliable parent satisfaction questionnaire is important for improving hearing screening programs.

Diagnosis and treatment of otitis media with effusion: CODEPEH recommendations. / Diagnóstico y tratamiento de la otitis media secretora infantil: recomendaciones CODEPEH.

The incidence and the prevalence rates of otitis media with effusion (OME) are high. However, there is evidence that only a minority of professionals follow the recommendations provided in clinical practice guidelines. For the purpose of improving diagnosis and treatment of OME in children to prevent and/or reduce its impact on children's development, the Commission for the Early Detection of Deafness (CODEPEH) has deeply reviewed the scientific literature on this field and has drafted a document of recommendations for a correct clinical reaction to of OME, including diagnosis and medical and surgical treatment methodology. Among others, medication, in particular antibiotics and corticoids, should not be prescribed and 3 months of watchful waiting should be the first adopted measure. If OME persists, an ENT doctor should assess the possibility of sugical treatment. The impact of OME in cases of children with a comorbidity is higher, so it requires immediate reaction, without watchful waiting.

Validation of the measures of cepstral peak prominence as a measure of dysphonia severity in Spanish-speaking subjects. / Validez de las medidas del pico cepstral para la valoración objetiva de la disfonía en sujetos de habla hispana.

INTRODUCTION AND OBJECTIVES: Perceptual rating of overall voice quality and other more specific perceptual dimensions is difficult, as such judgments depend on the listener's subjectivity. Thus, finding objective, valid, and accessible clinical measures to include in comprehensive voice evaluation protocols is a priority. The purposes of this study were to 1) determine the diagnostic accuracy of a single acoustic measure, smoothed cepstral peak prominence (CPPS), to predict voice disorder status from sustained vowels and connected speech samples using the software Praat; 2) to determine the relationship between measures of CPPS and perceptual ratings of vocal quality; and 3) describe the normative values of CPPS. METHOD: Measures of CPPS were obtained from connected speech and sustained vowel recordings of 72 Spanish-speaking subjects with voice disorders and 52 nondysphonic Spanish-speaking subjects with no vocal disorders using freely downloadable Praat software. IBM SPSS Statistics software version 23 was used to complete the statistical analyses. RESULTS: results revealed a 70% sensitivity rate, a specificity rate of 85%. Estimated severity for sustained vowels and connected speech were strongly correlated and significantly associated with listener ratings of dysphonia severity. CONCLUSIONS: A single acoustic measure of CPPS was highly predictive of voice disorder status using Praat software. Clinicians may consider using CPPS to complement clinical voice evaluation and screening protocols.

Vowel production in hearing impaired children: A comparison between normal-hearing, hearing-aided and cochlear-implanted children. / Comparación de la producción vocal en niños con hipoacusia prelocutiva con adaptación audioprotésica e implante coclear con normooyentes.

INTRODUCTION AND OBJECTIVES: Inadequate auditory feedback in prelingually deaf children alters the articulation of consonants and vowels. The purpose of this investigation was to compare vowel production in Spanish-speaking deaf children with cochlear implantation, and with hearing-aids with normal-hearing children by means of acoustic analysis of formant frequencies and vowel space. METHODS: A total of 56 prelingually deaf children (25 with cochlear implants and 31 wearing hearing-aids) and 47 normal-hearing children participated. The first 2 formants (F1 and F2) of the five Spanish vowels were measured using Praat software. One-way analysis of variance (ANOVA) and post hoc Scheffé test were applied to analyze the differences between the 3 groups. The surface area of the vowel space was also calculated. RESULTS: The mean value of F1 in all vowels was not significantly different between the 3 groups. For vowels /i/, /o/ and /u/, the mean value of F2 was significantly different between the 2 groups of deaf children and their normal-hearing peers. CONCLUSION: Both prelingually hearing-impaired groups tended toward subtle deviations in the articulation of vowels that could be analyzed using an objective acoustic analysis programme.

Clinical guideline on bone conduction implants. / Guía clínica sobre implantes de conducción de vía ósea.

INTRODUCTION AND GOALS: During the last decade there have been multiple and relevant advances in conduction and mixed hearing loss treatment. These advances and the appearance of new devices have extended the indications for bone-conduction implants. The Scientific Committee of Audiology of the Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello SEORL-CCC (Spanish Society of Otolaryngology and Head and Neck Surgery), together with the Otology and Otoneurology Committees, have undertaken a review of the current state of bone-conduction devices with updated information, to provide a clinical guideline on bone-conduction implants for otorhinolaryngology specialists, health professionals, health authorities and society in general. METHODS: This clinical guideline on bone-conduction implants contains information on the following: 1) Definition and description of bone-conduction devices; 2) Current and upcoming indications for bone conduction devices: Magnetic resonance compatibility; 3) Organization requirements for a bone-conduction implant programme. RESULTS AND CONCLUSIONS: The purpose of this guideline is to describe the different bone-conduction implants, their characteristics and their indications, and to provide coordinated instructions for all the above-mentioned agents for decision making within their specific work areas.

[Incidence of hypoacusia secondary to hyperbilirubinaemia in a universal neonatal auditory screening programme based on otoacoustic emissions and evoked auditory potentials]. / Incidencia de hipoacusia secundaria a hiperbilirrubinemia en un programa de cribado auditivo neonatal universal basado en otoemisiones acústicas y potenciales evocados auditivos.

INTRODUCTION: Hyperbilirubinaemia is a neonatal risk factor that has been proved to be associated with sensorineural hearing loss. A high concentration of unconjugated bilirubin place newborn children at risk of suffering toxic effects, including hypoacusia. OBJECTIVES: Review of the newborn screening results with a diagnosis of pathological hyperbilirubinaemia as part of a hearing-loss early detection protocol in the general population based on otoemissions and evoked potentials. MATERIAL AND METHOD: Retrospective study of 21 590 newborn children screened between 2002 and 2006. The selection criteria for defining pathological hyperbilirubinaemia were bilirubin concentrations in excess of 14 mg/dL in pre-term infants and 20 mg/dL in full-term babies. The Universal Neonatal Hearing Screening Programme is a two-phase protocol in which all children are initially subjected to a transient otoacoustic emissions test (TOAE). Children presenting risk factors associated with auditory neuropathy were always given brainstem auditory evoked potentials (BAEP). RESULTS: The patients identified as having severe hyperbilirubinaemia in the neonatal period numbered 109 (0.5 %) and 96 of these (88.07 %) passed the otoacoustic emissions test at the first attempt and 13 (11.93 %) did not; 11 of the 13 children in whom the otoacoustic emissions test was repeated passed it successfully. The 2 children who failed to pass the otoacoustic emissions test has normal BAEP results; 3 (2.75 %) of the newborn infants who passed the TOAE test did not pass the BAEP. DISCUSSION: Hyperbilirubinaemia values previously considered safe may harm the hearing system and give rise to isolated problems in auditory processing without being associated with other signs of classical kernicterus. Our results show that hyperbilirubinaemia-related auditory neuropathy reveals changes over time in the audiometric outcomes.

Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.

BACKGROUND: Sensorineural hearing loss (SNHL) is the most common sensory impairment. Comprehensive next-generation sequencing (NGS) has become the standard for the etiological diagnosis of early-onset SNHL. However, accurate selection of target genomic regions (gene panel/exome/genome), analytical performance and variant interpretation remain relevant difficulties for its clinical implementation. METHODS: We developed a novel NGS panel with 199 genes associated with non-syndromic and/or syndromic SNHL. We evaluated the analytical sensitivity and specificity of the panel on 1624 known single nucleotide variants (SNVs) and indels on a mixture of genomic DNA from 10 previously characterized lymphoblastoid cell lines, and analyzed 50 Spanish patients with presumed hereditary SNHL not caused by GJB2/GJB6, OTOF nor MT-RNR1 mutations. RESULTS: The analytical sensitivity of the test to detect SNVs and indels on the DNA mixture from the cell lines was > 99.5%, with a specificity > 99.9%. The diagnostic yield on the SNHL patients was 42% (21/50): 47.6% (10/21) with autosomal recessive inheritance pattern (BSND, CDH23, MYO15A, STRC [n = 2], USH2A [n = 3], RDX, SLC26A4); 38.1% (8/21) autosomal dominant (ACTG1 [n = 3; 2 de novo], CHD7, GATA3 [de novo], MITF, P2RX2, SOX10), and 14.3% (3/21) X-linked (COL4A5 [de novo], POU3F4, PRPS1). 46.9% of causative variants (15/32) were not in the databases. 28.6% of genetically diagnosed cases (6/21) had previously undetected syndromes (Barakat, Usher type 2A [n = 3] and Waardenburg [n = 2]). 19% of genetic diagnoses (4/21) were attributable to large deletions/duplications (STRC deletion [n = 2]; partial CDH23 duplication; RDX exon 2 deletion). CONCLUSIONS: In the era of precision medicine, obtaining an etiologic diagnosis of SNHL is imperative. Here, we contribute to show that, with the right methodology, NGS can be transferred to the clinical practice, boosting the yield of SNHL genetic diagnosis to 50-60% (including GJB2/GJB6 alterations), improving diagnostic/prognostic accuracy, refining genetic and reproductive counseling and revealing clinically relevant undiagnosed syndromes.