Abstract Introduction The World Health Organization (WHO) estimates that ~ 32 million children worldwide are affected by hearing loss (HL). Cochlear implant is the first-line treatment for severe to profound sensorineural HL. It is considered one of the most successful prostheses developed to date. Objective To evaluate the oral language development of pediatric patients with prelingual deafness implanted in a reference hospital for the treatment of HL in southern Brazil. Methods We conducted a retrospective cohort study with a review of medical records of patients undergoing cochlear implant surgery between January 2009 and December 2018. Language development was assessed by reviewing consultations with speech therapy professionals from the cochlear implant group. Results A total of 152 children were included in the study. The mean age at cochlear implant surgery was of 41 months (standard deviation [SD]: ± 15). The patients were divided into six groups considering the type of language most used in their daily lives. We found that 36% of children use oral language as their primary form of communication. In a subanalysis, we observed that patients with developed or developing oral language had undergone cochlear implant surgery earlier than patients using Brazilian Sign Language (Língua Brasileira de Sinais, LIBRAS, in Portuguese) or those without developed language. Conclusion The cochlear implant is a state-of-the-art technology that enables the re-establishment of the sense of hearing and the development of oral language. However, language development is a complex process known to present a critical period to properly occur. We still see many patients receiving late diagnosis and treatment, which implies a delay and, often, the impossibility of developing oral communication. Level of Evidence Level 3 (cohort study). WHO (WHO . (HL) firstline first line date Brazil 200 2018 group 15 4 standard SD [SD] 15. 15) lives 36 communication subanalysis Língua Sinais LIBRAS Portuguese stateoftheart state art reestablishment re establishment However occur often study) (HL 20 201 1 [SD 2

Abstract Objective To evaluate the rate of loss to follow-up in a cochlear implant program from the public health system in Southern Brazil as well as the characteristics of hearing loss, sociodemographic, sociocultural and the development of oral language in children with prelingual deafness. Methods Retrospective cohort study with children who underwent CI surgery between 2010 and 2020. Data was collected through of interviews and review of medical records. The language development assessment was performed using the MUSS, MAIS and IT-MAIS scales. For the classification of language development, we used as parameters the values (mean ± SD) found in a previous national study. From those values, the Z-score for each patient at each hearing age (time of experience with the cochlear implant) was calculated. Results Of the 225 children implanted between 2010-2020, 129 were included in this study. The rate of loss to follow-up in the program was 42.6%. The mean age at first surgery was 40.5 (±16.9) months, with 77.5% of patients having received a unilateral implant. Language results below the expected for hearing age (<Z-score-1) for the MAIS score were found in 59.7% of the sample, while for the MUSS score the proportion was 62%. Conclusions Most patients had an elevated mean age at cochlear implantation and there was a high rate of loss to follow-up and low attendance to speech and programming sessions. An overall poor language performance was found for this pediatric cochlear implant program from the public health system in Southern Brazil. Level of evidence Level 3 (Non-randomized cohort study). followup follow up sociodemographic deafness 201 2020 records ITMAIS IT scales SD Zscore Z time calculated 22 20102020, 20102020 2020, 2010-2020 12 426 42 6 42.6% 405 40 5 40. ±16.9 169 16 9 (±16.9 months 775 77 77.5 <Zscore1 Zscore1 <Z 1 (<Z-score-1 597 59 7 59.7 sample 62 62% sessions Nonrandomized Non randomized . study) 20 202 2 2010202 2010-202 4 42.6 ±16. (±16. 77. <Zscore (<Z-score- 59. 201020 2010-20 42. ±16 (±16 (<Z-score 20102 2010-2 ±1 (±1 2010- (± (

Abstract Introduction The treatment of cholesteatoma is generally surgical, and the major obstacle is the high prevalence of recidivism. The endoscopic ear surgery technique is proposed to minimize this problem. Objectives To utilize endoscopes to visualize and manipulate cholesteatoma residues after microscopic removal Methods Cross-sectional study. Thirty-two patients with cholesteatoma underwent microscopic wall-up mastoidectomy combined with the endoscopic approach. The subjects were assessed for the presence and location of covert disease. Results Of the 32 cases, 17 (53.12%) had residual cholesteatoma in the endoscopic phase. Minimal disease was found, usually fragments of the cholesteatoma matrix. Pars tensa cholesteatomas had more covert disease than pars flaccida cholesteatomas (62.50% vs 43.75%). Posterior recesses (47.05%) and tegmen tympani (41.17%) were the locations with more covert disease (p< 0.05). Conclusion Cholesteatomas of the pars tensa presented more residual disease and were significantly more common in the posterior recesses and tegmen tympani.

Abstract Objective: To evaluate the impact of the Universal Neonatal Hearing Screening (UNHS) on the age at diagnosis, beginning of treatment, and first cochlear implant surgery. Methods: A retrospective cohort study with children up to 12 years old with bilateral hearing loss were divided into two groups: patients who underwent UNHS and the ones who didn't. The groups were compared according to their age at the beginning of the evaluation at a specialized center, at the beginning of the intervention, and, for the ones who had indication, at the cochlear implant surgery. The group who underwent UNHS was divided between the ones who passed the screening test and the ones who didn’t. They were compared according to their ages at the same moments as the first two groups. Results: 135 patients were included. The median age at the first appointment in a specialized center was 1.42 (0.50 and 2.50) years, at the beginning of treatment 2.00 (1.00 and 3.52) years, and the cochlear implant surgery 2.83 (1.83 and 4.66) years. Children who underwent UNHS were younger than those who didn't, at the three evaluated moments (p < 0.001). In a subanalysis, children who passed the UNHS but were later diagnosed with hearing loss reached the first appointment with a specialist and started treatment older than those who failed the tests. Conclusion: Performing UNHS interfered with the timing of deafness diagnosis and treatment. However, children who passed the screening but were later diagnosed with hearing loss were the category with the most important delay.

Resumo Introdução A etiologia da perda auditiva depende da população estudada, da etnia e da condição socioeconômica da região analisada. O diagnóstico etiológico contribui para o aprimoramento das medidas preventivas e para a identificação precoce dessa deficiência. Objetivos Identificar os fatores etiológicos da perda auditiva e sua prevalência em um hospital terciário do sul do Brasil, verificar a frequência de mutações nos genes GJB2 e GJB6 e correlacionar o grau da perda auditiva com os fatores etiológicos da deficiência auditiva. Método Este estudo de prevalência avaliou 140 crianças com perda auditiva neurossensorial bilateral ou mista. Foram submetidos a anamnese com histórico médico, exame físico, audiometria e potencial evocado auditivo de tronco encefálico. Exames de imagem e genéticos também foram feitos. Resultados As etiologias e sua prevalência foram as seguintes: (a) causas indeterminadas, 31,4%; (b) condições relacionadas ao período neonatal, 22,1%; (c) genética, 22,1%; (d) neuropatia auditiva, 10%; (e) outros fatores (malformação cortical, hemorragia intracraniana e malformações da orelha interna), 7,9% e (f) infecções congênitas, 6,4%. Entre os casos genéticos, foram identificados dez casos homozigotos e sete heterozigotos da mutação 35delG, além de dois casos de variantes raras do GJB2: p.Try172* e p.Arg184Pro. Foi encontrado um caso homozigoto da mutação del (GJB6‐D13S1830). Em relação à gravidade da perda auditiva, em 78,6% dos casos o grau da perda auditiva foi profundo e não houve diferenças significantes na comparação entre as etiologias. Conclusão O número de etiologias indeterminadas ainda é elevado e a infecção congênita por CMV pode ser uma possível causa de etiologia não diagnosticada para perda auditiva. A predominância das etiologias relacionadas às condições neonatais e às causas infecciosas são características de países em desenvolvimento. A mutação mais prevalente foi a 35delG e o principal gene foi o GJB2, provavelmente devido à influência europeia no genótipo de nossa população. estudada analisada Brasil GJB 14 mista médico físico encefálico feitos seguintes (a 31,4% 314 31 4 b (b neonatal 22,1% 221 22 1 c (c genética d (d 10% 10 (e malformação cortical interna, interna , interna) 79 7 9 7,9 f (f congênitas 64 6 6,4% delG pTry172 pTry p Try172 Try p.Try172 pArg184Pro pArgPro Arg184Pro Arg Pro p.Arg184Pro GJB6‐D13S1830. GJB6D13S1830 GJBDS GJB6‐D13S1830 . D13S1830 D S (GJB6‐D13S1830) 786 78 78,6 desenvolvimento 31,4 3 22,1 2 7, 6,4 pTry17 Try17 p.Try17 pArg ArgPro GJB6D13S183 GJB6‐D13S183 DS D13S183 (GJB6‐D13S1830 78, 31, 22, 6, pTry1 Try1 p.Try1 GJB6D13S18 GJB6‐D13S18 D13S18 (GJB6‐D13S183 p.Try GJB6D13S1 GJB6‐D13S1 D13S1 (GJB6‐D13S18 GJB6D13S GJB6‐D13S D13S (GJB6‐D13S1 (GJB6‐D13S

Abstract Introduction Hearing loss etiology depends on the population studied as well as on the ethnicity and the socio-economic condition of the analyzed region. Etiological diagnosis contributes to the improvement of preventive measures and to the early identification of this deficiency. Objective To identify the etiological factors of hearing loss and its prevalence in a tertiary hospital in southern Brazil, to verify the frequency of mutations in GJB2 and GJB6 genes, and to correlate the degree of hearing loss with the etiological factors of deafness. Methods This prevalence study involved 140 children with bilateral sensorineural or mixed hearing loss. Medical history, physical examination, audiometry, and evoked auditory brainstem response were conducted. Imaging and genetic examinations were also performed. Results Etiologies and their prevalence were as follows: (a) indeterminate causes, 31.4%; (b) conditions related to neonatal period, 22.1%; (c) genetic, 22.1%; (d) auditory neuropathy, 10%; (e) other factors (cortical malformation, intracranial hemorrhage, and internal ear malformations), 7.9% and (f) congenital infections, 6.4%. Within the genetic cases, ten homozygous and seven heterozygotes of the 35delG mutation were identified, besides two cases of rare variants of GJB2: p.Try172* and p.Arg184Pro. One case with homozygosis of del(GJB6-D13S1830) was found. Regarding severity of hearing loss, in 78.6% of the cases the degree of hearing loss was profound and there were no significant differences when comparing between etiologies. Conclusion The number of indeterminate etiologies is still high and congenital CMV infection may be a possible cause of undiagnosed etiology for hearing loss. The predominance of etiologies related to neonatal conditions and infectious causes are characteristic of developing countries. The most prevalent mutation was 35delG, the main GJB2 gene, probably because of the European influence in the genotype of our population. socioeconomic socio economic region deficiency Brazil GJB genes deafness 14 history examination audiometry conducted performed follows (a 31.4% 314 31 4 b (b period 22.1% 221 22 1 c (c d (d neuropathy 10% 10 e (e cortical malformation hemorrhage malformations, malformations , malformations) 79 7 9 7.9 f (f infections 64 6 6.4% delG identified pTry172 pTry p Try172 Try p.Try172 pArg184Pro pArgPro Arg184Pro Arg Pro p.Arg184Pro delGJB6D13S1830 delGJBDS del D13S1830 D S del(GJB6-D13S1830 found 786 78 78.6 countries gene 31.4 3 22.1 2 7. 6.4 pTry17 Try17 p.Try17 pArg ArgPro delGJB delGJB6D13S183 DS D13S183 del(GJB6-D13S183 78. 31. 22. 6. pTry1 Try1 p.Try1 delGJB6D13S18 D13S18 del(GJB6-D13S18 p.Try delGJB6D13S1 D13S1 del(GJB6-D13S1 delGJB6D13S D13S del(GJB6-D13S