Cholesteatoma labyrinthine fistula: prevalence and impact / Fístula labiríntica por colesteatoma: prevalência e impacto

Abstract Introduction: Labyrinthine fistula is one of the most common complications associated with cholesteatoma. It represents an erosive loss of the endochondral bone overlying the labyrinth. Reasons for cholesteatoma-induced labyrinthine fistula are still poorly understood. Objective: Evaluate patients with cholesteatoma, in order to identify possible risk factors or clinical findings associated with labyrinthine fistula. Secondary objectives were to determine the prevalence of labyrinthine fistula in the study cohort, to analyze the role of computed tomography and to describe the hearing results after surgery. Methods: This retrospective cohort study included patients with an acquired middle ear cholesteatoma in at least one ear with no prior surgery, who underwent audiometry and tomographic examination of the ears or surgery at our institution. Hearing results after surgery were analyzed according to the labyrinthine fistula classification and the employed technique. Results: We analyzed a total of 333 patients, of which 9 (2.7%) had labyrinthine fistula in the lateral semicircular canal. In 8 patients, the fistula was first identified on image studies and confirmed at surgery. In patients with posterior epitympanic and two-route cholesteatomas, the prevalence was 5.0%; and in cases with remaining cholesteatoma growth patterns, the prevalence was 0.6% (p = 0.16). In addition, the prevalence ratio for labyrinthine fistula between patients with and without vertigo was 2.1. Of patients without sensorineural hearing loss before surgery, 80.0% remained with the same bone conduction thresholds, whereas 20.0% progressed to profound hearing loss. Of patients with sensorineural hearing loss before surgery, 33.33% remained with the same hearing impairment, whereas 33.33% showed improvement of the bone conduction thresholds' Pure Tone Average. Conclusion: Labyrinthine fistula must be ruled out prior to ear surgery, particularly in cases of posterior epitympanic or two-route cholesteatoma. Computed tomography is a good diagnostic modality for lateral semicircular canal fistula. Sensorineural hearing loss can occur post-surgically, even in previously unaffected patients despite the technique employed.

Resumo Introdução: A fístula labiríntica é uma das complicações mais comuns associadas ao colesteatoma. Representa uma perda erosiva do osso endocondral que recobre o labirinto. As razões para a ocorrência da fístula labiríntica induzida pelo colesteatoma ainda são mal compreendidas. Objetivo: Avaliar pacientes com colesteatoma, a fim de identificar possíveis fatores de risco ou achados clínicos associados à fístula labiríntica. Os objetivos secundários foram determinar a prevalência de fístula labiríntica no estudo de coorte, analisar o papel da tomografia computadorizada e descrever os resultados auditivos após a cirurgia. Método: Este foi um estudo de coorte retrospectivo. Foram incluídos pacientes com colesteatoma adquirido de orelha média em pelo menos um lado sem cirurgia prévia que haviam sido submetidos à audiometria e tomografia computadorizada de orelha ou cirurgia em nossa instituição. Os resultados auditivos após a cirurgia foram analisados de acordo com a classificação de fístula labiríntica e da técnica empregada. Resultados: Analisamos um total de 333 pacientes, dos quais 9 (2,7%) apresentavam fístula labiríntica no canal semicircular lateral. Em 8 pacientes, a fístula foi identificada na tomografia computadorizada e confirmada durante a cirurgia. Em pacientes com colesteatomas epitimpânicos posteriores e de via dupla, a prevalência foi de 5,0%; e nos casos com padrão de crescimento de colesteatoma remanescente, a prevalência foi de 0,6% (p = 0,16). Além disso, a taxa de prevalência de fístula labiríntica entre pacientes com e sem vertigem foi de 2,1. Dos pacientes sem perda auditiva neurossensorial antes da cirurgia, 80,0% permaneceram com os mesmos limiares de condução óssea, enquanto 20,0% progrediram para perda auditiva profunda. Dos pacientes com perda auditiva neurossensorial antes da cirurgia, 33,33% permaneceram com a mesma deficiência auditiva, enquanto 33,33% apresentaram melhora da média de dos limiares de condução óssea aos tons puros. Conclusão: A fístula labiríntica deve ser descartada antes do procedimento cirúrgico, particularmente nos casos de colesteatomas epitimpânicos posteriores e de dupla via. A tomografia computadorizada é uma boa modalidade diagnóstica para a fístula do canal semicircular lateral. A perda auditiva neurossensorial pode ocorrer pós-cirurgicamente, mesmo em pacientes previamente não afetados, a despeito da técnica empregada.

Prevalence of sensorineural hearing loss in newborns in a hospital from a developing country / Prevalencia de hipoacusia neurosensorial del recién nacido: hospital en un país en vía de desarrollo

ABSTRACT Objective This study aimed to determine the prevalence of nonsyndromic congenital sensorineural hearing loss at the Hospital Universitario San Ignacio, Bogotá, Colombia, and to describe the risk factors associated with this condition. Materials and Methods A prospective, observational cross-sectional study with bivariate analysis was conducted. A three-phase process using the Otoacoustic Emissions test screened all live newborns between June 2013 and June 2014. Negative cases were confirmed by Automated Auditory Brainstem Response test. Results A total of 962 newborns were screened with Otoacoustic Emissions test bilaterally: 401 males (46.36%), 464 females (53.64%). The mean weight was 2 798.10 g (95%CI: 2 766.51 - 2 839.76). The mean height was 48.60 cm (95%CI: 48.38 - 48.79). The mean age was 16.24 days (95%CI: 15.47 - 17.01). The mean maternal age was 27.37 years (95%CI: 26.76 - 27.98). There was a family history of hearing loss in 9.48% of the cases (n=90), and a family history of genetic diseases in 100 cases (10.56%). There were 14 cases of TORCH infections (1.45%), 375 admissions to the NICU (39.06%), 160 cases of neonatal jaundice (20.1%), and 79 cases of postpartum infections (8.21%). One live newborn presented with microtia. Conclusions The prevalence of congenital sensorineural hearing loss was 0.31% in both ears, and 0.11% in one ear. Currently, Colombia lacks a public universal newborn hearing screening program, and its future implementation faces great challenges.(AU)

RESUMEN Objetivos Este estudio busca determinar la prevalencia de la hipoacusia neurosensorial congénita no sindrómica en el Hospital Universitario San Ignacio de Bogotá, Colombia, y describir sus factores de riesgo. Materiales y Métodos Estudio observacional, transversal y prospectivo con análisis bivariado. Todos los nacidos vivos entre junio de 2013 y junio de 2014 fueron tamizados con Emisiones Otoacusticas. Los casos negativos fueron confirmados con Potenciales Evocados Auditivos de Tronco Cerebral. Resultados Un total de 962 neonatos fueron tamizados de forma bilateral con Emisiones Otoacústicas: 401 de sexo masculino (46,36%) y 464 de sexo femenino (53,64%). El peso promedio fue de 2 798,10 g (IC95%: 2 766,51 - 2 839,76). La talla promedio fue de 48.60 cm (IC95%: 48,38 - 48,79). La edad promedio fue de 16,24 días (IC95%: 15,47 -17,01). La edad materna promedio fue de 27,37 años (IC95%: 26,76 - 27,98). Se encontró historia familiar de hipoacusia en 9.48% de los casos (n=90) e historia familiar de enfermedades genéticas en 100 casos (10,56%). Hubo 14 casos de infecciones por TORCH (1,45%), 375 admisiones a la UCI Neonatal (39,06%), 160 casos de ictericia neonatal (20,1%) y 79 casos de infecciones postnatales (8,21%). Un nacido vivo presentó microtia. Conclusiones Se encontró una prevalencia de hipoacusia neurosensorial congénita del 0,31% en ambos oídos y de 0,11% en un oído. Actualmente Colombia carece de un programa nacional de tamización de hipoacusia neonatal, y su futura implementación conlleva grandes retos.(AU)

Ações para a melhoria do conforto acústico em instituições de educação infantil / Noise in early childhood education institutions

Resumo Elevados níveis de pressão sonora têm sido observados em escolas e, por sua interferência na saúde das crianças e professores, teve-se por objetivo analisar esses níveis em centros de educação infantil que atendem crianças com idades entre zero e seis anos, investigar a percepção dos funcionários quanto à exposição ao ruído e identificar a audição desses trabalhadores. O estudo foi realizado em dez instituições que empregam 320 trabalhadores. Os níveis de pressão sonora foram medidos segundo as normas técnicas, os funcionários preencheram questionário sobre a percepção do ruído e passaram por avaliação auditiva. Observou-se elevado nível de pressão sonora e diferenças entre as instituições, situações e locais. A maioria dos funcionários se considerou exposta ao ruído com dificuldades de atenção e concentração, ansiedade e dor de cabeça. Cerca de 30% dos funcionários apresentaram perda auditiva neurossensorial bilateral em frequências específicas. Os níveis de pressão sonora encontrados podem comprometer a aprendizagem das crianças e a saúde de todos. Os funcionários percebem o ruído e indicam prejuízos em sua rotina de trabalho. Ações para melhorar o conforto acústico nessas instituições foram discutidas e estão sendo implementadas.

Abstract High sound pressure levels have been observed in schools, and its interference in the health of children and teachers it was taken to analyze these levels in childhood education centers serving children aged zero to six years, investigate the staff's perceptions concerning noise exposure and identify the auditory conditions of these workers and the occurrence of diseases. The study was conducted in ten institutions employing 320 workers. Sound pressure levels were measured according to the technical norms; employees completed a questionnaire on the perception of noise and underwent auditory evaluation. There was high sound pressure level and differences between institutions, situations and places. Most employees are considered exposed to noise with attention and concentration difficulties, anxiety and headache. About 30% of employees had bilateral sensorineural hearing loss in specific frequency. The sound pressure levels found can affect children's learning and the health of all. The employees also perceived elevated levels of noise and indicated some possible negative aspects in their work routine. Actions to improve the acoustic comfort in these institutions will be discussed with the management teams.

Hipoacusia neurosensorial en niños nacidos con muy bajo peso, atendidos en un hospital pediátrico de alta complejidad / Sensorineural hearing loss in children borned with very low weight, attended at a high complexity pediatric hospital / Perda auditiva em crianças nascidas con muito baixo peso, atendidas em um hospital pediátrico de alta complexidade

INTRODUCCIÓN: El peso al nacer menor a 1.500 gramos es considerado un factor de riesgo auditivo. Analizamos una muestra de 137 niños nacidos con muy bajo peso, atendidos en un hospital pediátrico de alta complejidad. OBJETIVOS: Determinar la frecuencia de hipoacusia neurosensorial; analizar las diferencias entre los subgrupos: screening auditivo neonatal y pacientes de consultorio externo; valorar si existen diferencias entre los subgrupos de peso menor a 1.000 gramos y mayor a 1.000 gramos; investigar el grado de hipoacusia y determinar si la misma es unilateral o bilateral; estimar el porcentaje de niños de screening auditivo que regresaron para seguimiento; describir los factores de riesgo auditivo que presenta la muestra.

INTRODUCTION: Birth weight less than 1,500 grams is considered an auditory risk factor. We analyzed a sample of 137 children born with very low weight and treated in a high complexity pediatric hospital. OBJECTIVE: Determine frequency of sensorineural hearing loss; to analyze differences between the subgroups: neonatal auditory screening and patients from the outpatient clinic; assess if there are differences between subgroups of less and than 1,000 grams; investigate the degree of hearing loss and determine whether it is unilateral or bilateral; estimate the percentage of hearing screening children who returned for follow-up; describe the auditory risk factors presented by the sample.

INTRODUÇÃO: O peso do bebe ao nascer menor do que 1500 gramas é considerado um fator de risco auditivo. Neste trabalho, foi analisada uma amostra de 137 crianças nascidas com muito baixo peso, atendidos em um hospital pediátrico de alta complexidade. Os objetivos do trabalho foram: determinar a frequência de perda auditiva neurossensorial; analisar diferenças entre os subgrupos: screening auditivo neonatal e pacientes de consultório externo; avaliar se existem diferenças entre os subgrupos de peso menor do que 1000 gramas; investigar o grau de perda auditiva e determinar se a mesma foi unilateral ou bilateral; estimar a percentagem de crianças de screening auditivo que regressaram para acompanhamento; descrever os fatores de risco auditivo que apresentou a amostra. MATERIAL E MÉTODO: Foram excluídos pacientes oncológicos, com traumatismo cranioencefálico, transplantados ou com cirurgias do ouvido prévias ao diagnóstico da perda auditiva.

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism

ABSTRACT Objective Pendred syndrome (PS) is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic mutations in the SLC26A4 gene encoding for pendrin. Hypothyroidism in PS can be present from birth and therefore diagnosed by neonatal screening. The aim of this study was to examine the SLC26A4 mutation spectrum and prevalence among congenital hypothyroidism (CH) patients in the Guangxi Zhuang Autonomous Region of China and to establish how frequently PS causes hearing impairment in our patients with CH. Subjects and methods Blood samples were collected from 192 CH patients in Guangxi Zhuang Autonomous Region, China, and genomic DNA was extracted from peripheral blood leukocytes. All exons of the SLC26A4 gene together with their exon-intron boundaries were screened by next-generation sequencing. Patients with SLC26A4 mutations underwent a complete audiological evaluation including otoscopic examination, audiometry and morphological evaluation of the inner ear. Results Next generation sequencing analysis of SLC26A4 in 192 CH patients revealed five different heterozygous variations in eight individuals (8/192, 4%). The prevalence of SLC26A4 mutations was 4% among studied Chinese CH. Three of the eight were diagnosed as enlargement of the vestibular aqueduct (EVA), no PS were found in our 192 CH patients. The mutations included one novel missense variant p.P469S, as well as four known missense variants, namely p.V233L, p.M147I, p.V609G and p.D661E. Of the eight patients identified with SLC26A4 variations in our study, seven patients showed normal size/location of thyroid gland, and one patients showed a decreased size one. Conclusions The prevalence of SLC26A4 pathogenic variants was 4% among studied Chinese patients with CH. Our study expanded the SLC26A4 mutation spectrum, provided the best estimation of SLC26A4 mutation rate for Chinese CH patients and indicated the rarity of PS as a cause of CH.

Correlação entre perda auditiva e indicadores de risco em um serviço de referência em triagem auditiva neonatal / Correlation between hearing loss and risk indicators in a neonatal hearing screening reference service

OBJETIVO: Verificar a ocorrência de perda auditiva e a sua correlação com os indicadores de risco, em bebês de um Serviço de Referência de Triagem Auditiva Neonatal. MÉTODOS: Estudo retrospectivo com casuística composta por 3151 prontuários de bebês, dos quais 803 apresentaram indicadores de risco para a deficiência auditiva. O estudo foi realizado em um Serviço de Referência em Triagem Auditiva Neonatal de um Hospital Universitário na cidade de Belo Horizonte (MG). A coleta dos dados abrangeu o período de janeiro de 2009 a dezembro de 2010. RESULTADOS: No grupo sem indicadores de risco, a ocorrência de perda auditiva foi de 1,04%, sendo 0,04% do tipo neurossensorial e 0,99% do tipo condutiva. No grupo com indicadores de risco, a ocorrência de perda auditiva foi de 8,38%: 3,10% do tipo neurossensorial e 5,27% do tipo condutiva. Na etapa de acompanhamento, uma criança (0,33%) obteve diagnóstico de perda auditiva neurossensorial de grau moderado bilateral. Os indicadores de risco mais frequentes na população estudada foram a permanência em UTI neonatal por mais de cinco dias, com 43,47%, seguido de uso de ototóxicos, 29,81% e ventilação mecânica, 28,88%. Foi observado que crianças com suspeita de síndromes têm 18 vezes mais chance de apresentar perda auditiva neurossensorial. CONCLUSÃO: A ocorrência de perda auditiva foi maior no grupo de crianças com indicadores de risco. O indicador de risco que apresenta correlação com a presença de perda auditiva neurossensorial é a suspeita de síndromes. Verifica-se a necessidade de desenvolvimento de ações de promoção da saúde para diminuição dos indicadores de risco encontrados na população atendida.

PURPOSE: To investigate the correlation between risk indicators and hearing impairment in infants of a Newborn hearing screening program METHODS: A retrospective study with 3151 newborn records with and without risk indicator for hearing loss, followed-up by a Newborn hearing screening program at a Public Hospital in the city of Belo Horizonte (MG). RESULTS: In the group without risk indicators, the incidence of hearing loss was 1.04%: 0.04% were sensorineural and 0.99% were conductive. In the group with risk indicators, the incidence of hearing loss was 8.38% (5.27% conductive and 3.1% sensorineural). In the high risk group one child (0.33%), who passed the screening, was diagnosed during the follow up with bilateral sensorineural mild hearing. The most common risk indicators were neonatal intensive care of >5 days (43.47%) followed by use of ototoxic drugs, (29.81%) and mechanical ventilation (28.88%). It was observed that children with suspected syndromes have 18 times more chance of acquiring sensorineural hearing loss. CONCLUSION: The risk indicator which correlated to hearing loss was suspicion of syndromes. Health promotion actions are necessary to reduce the presence of risk indicators found in the served population.

Programa de tamizaje universal e intervención precoz (PTUIP) en hipoacusia sensorioneural bilateral congénita: Tarea pendiente desde la perspectiva de políticas públicas de salud en Chile / Universal screening program and early intervention (uspei) in congenital bilateral sensorineural hearing loss in Chile

Congenital hearing loss is the total or partial inability to hear sounds through the ears. It is the most common disability in newborns in Chile and worldwide, and is a permanent condition. The direct impact on children who are not adequately diagnosed is the alteration in acquisition of language and cognitive skills and a decline in their social and school insertion, jeopardizing their professional and potentially productive life. Universal screening programs for hearing loss are essential for the diagnosis, since 50% of infants with hearing loss have no known risk factor. Screening before one month of age, confirmation before 3 months, and effective intervention before 6 months, allows the development of these children as if they had normal hearing. In Chile there is a selective program of screening for infants aged less than 32 weeks or 1,500 grams, as part of Explicit Health Guarantees, but it covers only 0.9% of newborns per year. Therefore, a large majority of children remain without diagnosis. The aim of this review is to compare the situation in Chile with other countries, raising the need to move towards a universal neonatal hearing loss screening program, and propose necessary conditions in terms of justification and implementation of a universal screening public policy.

Levantamento e análise de dados de pacientes atendidos em um programa de concessão de aparelhos de amplificação sonora individual / Survey and data analysis of patients treated in a hearing aids grant program

OBJETIVO: Traçar um perfil dos pacientes atendidos em um Programa de Concessão de aparelhos de amplificação sonora individual, do Ministério da Saúde, analisando-se as variáveis: faixa etária, gênero, tipo e grau da perda auditiva, número de pacientes adaptados, tipo de adaptação, se uni ou bilateral e a orelha adaptada. MÉTODOS: Trata-se de um estudo de levantamento e análise de dados, de caráter observacional descritivo, retrospectivo de corte transversal, no qual foram incluídos os pacientes atendidos no período de fevereiro de 2006 a julho de 2010, totalizando 1572 indivíduos. RESULTADOS: As idades variaram entre três e 100 anos, sendo em sua maioria idosos (52,8%), não existindo diferença de frequência entre os gêneros. As perdas auditivas do tipo neurossensorial (73,12%) e grau moderado (54,7%) foram as mais frequentes, exceto em crianças, em que o grau mais encontrado foi o profundo (45,3%). Foram adaptados mais de 99% dos pacientes, sendo 258 unilateralmente e 1302 bilateralmente. CONCLUSÃO: A maioria dos pacientes atendidos no Programa apresenta idade superior a 60 anos, não existindo diferença de frequência entre homens e mulheres. O tipo de perda auditiva neurossensorial e o grau moderado foram os mais frequentemente diagnosticados nos gêneros e faixas etárias estudadas, exceto em crianças. Observou-se que mais de 99% dos pacientes atendidos foram adaptados, sendo a conduta definida de acordo com seus diagnósticos audiológicos e necessidades.

PURPOSE: To establish a profile of the patients treated in a Hearing Aids Grant Program of the Brazilian Ministry of Health, by analyzing the variables: age, sex, type and degree of hearing loss, number of aided patients, adaptation type (unilateral or bilateral), and adapted ear. METHODS: This is a descriptive observational study, retrospective in a cross-sectional perspective, which included patients treated between February 2006 and July 2010, totaling 1,572 individuals; RESULTS: Their ages ranged from 3 to 100 years, mostly elderly (52.8%), with no frequency difference between the sexes. The sensorineural (73.12%) and moderate (54.7%) hearing losses were the most frequent ones, except in children, in whom the degree found was more profound (45.3%). More than 99% of the patients were aided, 258 unilaterally and 1,302 bilaterally. CONCLUSION: Mostly patients presents 60 years old or more, with no frequency difference between the sexes. The sensorioneural and moderate hearing losses were the most frequent ones, except in children. More than 99% of the patients were aided and the conducts were defined based in the audiological diagnosis and patient's needs.

Evaluación del programa de detección precoz de hipoacusia en recién nacidos prematuros extremos (RNPE), experiencia Hospital Padre Hurtado / Hearing screening in infants with very low birth weight (VLBW), Padre Hurtado experience

Introducción: En julio de 2005 se implementó en Chile un programa de pesquisa precoz de hipoacusia en recién nacidos menores de 32 semanas de edad gestacional y/ o con peso de nacimiento menor a 1.500 grs. Objetivo: Evaluar la ejecución de este programa en el Hospital Padre Hurtado, durante el período julio 2005 y diciembre 2009. Material y método: Se utilizaron potenciales auditivos evocados de tronco automatizado (PEATa) en dos etapas (pesquisa). Los pacientes que fallaron fueron estudiados mediante potenciales evocados auditivos extendidos (PEAe). Para el diagnóstico de hipoacusia sensorioneural (HSN) se consideró dos PEAe (click) alterados y audiometría de refuerzo visual concordante. Resultados: En el período se evaluaron 166 RNPE. La tasa de referencia fue de 7,9 por ciento (13 pacientes), considerando las fallas uni y bilaterales en dos PEATa. La tasa de HSN de esta población correspondió a 1,8 por ciento. Conclusiones: La tasa de referencia (7,9 por ciento) así como de prevalencia de HSN de la población estudiada (1,8 por ciento) está dentro de lo descrito en la literatura para recién nacidos de alto riesgo. Se sugiere una etapa de pesquisa en 2 fases, estudio de los pacientes que refieren tanto bilateralmente como unilateralmente y el seguimiento audiológico de los pacientes previamente diagnosticados.

Introduction: In July 2005, Chile implemented a hearing screening program in newborns under 32 weeks gestational age and/or birth weight less than 1500 g. Aim: Evaluate the implementation of this program in the Hospital Padre Hurtado, during the period July 2005 and December 2009. Material and method: We used automated auditory brainstem response (AABR) in two stages (screening). Patients who failed were studied using click auditory brainstem response (ABR). For the diagnosis of sensorineural hearing loss (SNHL) are considered two ABR altered and consistent visual reinforcement audiometry. Results: A total of 166 were evaluated VLBW. The reference rate was 7.9 percent (13 patients), whereas failures in two uni-and bilateral AABR. SNHL rate of this population accounted for 1.8 percent. Conclusions: The reference rate (7.9 percent) and HSN prevalence of the study population (1.8 percent) is within that described in the literature for high-risk newborns. It suggests a period of research in two phases, a study of patients referred both bilaterally and unilaterally and audiological monitoring of patients previously diagnosed.

[Otologic problems in turner syndrome]

Turner syndrome is the most common sex chromosome abnormality in females, affecting an estimated 3% of all conceiving females. Otologic disease is a common problem in Turner syndrome patients that is due to a combination of small dysfunction Eustachian tube, palatal dysfunction and cochlear malformation. This study assessed the otologic and audiologic characteristics of a group of Turner syndrome patients. We studied 40 Turner patients aged 10 to 20 years [mean age: 15.84 years, SD= 2.67]. Pure tone audiometry was carried out for all of them. Forty percent of the patients reported a history of middle ear disease. Analysis of audiometric data in 40 patients tested reveals normal hearing in 47.5%, pure sensorineural hearing loss in 32.5%, pure conductive hearing loss in 17.5% and mixed hearing loss in 2.5% of patients. Careful follow up during early childhood of children with turner syndrome is necessary to detect middle ear disease and prevent the probable sequel. However, long term periodic follow up is mandatory even after resolution of middle ear disease to detect sensorineural hearing loss

Motor development and postural control evaluation of children with sensorineural hearing loss: a review of three inexpensive assessment tools-PBS, TGMD-2 and P-CTSIB

Sensorineural hearing loss is believed to be the result of a physiologic malfunction in the inner ear or acoustic nerve. Depending on the rapidity of progression and severity, sensorineural hearing loss can be endless annoying, frightening and can constitute a permanent after effect. Moreover, there is no surgical procedure that can reverse or lessen the severity of a sensorineural hearing loss. Furthermore, children with sensorineural hearing loss present with additional disabilities in 30 to 40% of the cases. Children with profound sensorineural hearing loss may exhibit abnormalities of vestibular structures, which may lead to impairment of postural control, locomotion and gait. The development of gross motor functions such as head control, sitting and walking are likely to be delayed in these children. Evaluation of motor skill and balance are the core of the pediatrician and physical therapist's expertise and practice. Knowledge of the reliable, valid and inexpensive assessment tools for measuring motor skills and balance are necessary to gauge the progression of the disease and the impact of treatment. In this review, we aim to summarize inexpensive tools such as TGMD-2, PBS, and P-CTSIB

Distal renal tubular acidosis and its relationship with hearing loss in children: preliminary report

In autosomal recessive distal renal tubular acidosis [DRTA], a substantial fraction of the patients have progressive bilateral sensorineural hearing loss. This coexistence is due to the mutations of a gene expressed both in the kidney and in the cochlea. The aim of this study was to assess the correlation between hearing loss and DRTA. In this study, 51 children diagnosed with renal tubular acidosis were evaluated. Diagnosis of DRTA was based on clinical manifestations and detection of normal anion gap metabolic acidosis, urine pH higher than 5.5, and positive urinary anion gap. Audiometry was performed in children with DRTA and sequencing of the ATP6V1B1 gene was done for those with sensorineural hearing loss. Twenty-seven patients [52.9%] had DRTA, of whom 51.9% were younger than 1 year old, 55.6% were boys, and 44.4% were girls. Eleven patients [40.7%] had bilateral sensorineural hearing loss, consisting of 5 of 15 boys [33.3%] and 6 of 12 girls [50.0%]. There was no correlation between hearing loss and gender. Three patients with hearing loss had mutation in the ATP6V1B1 gene [11.1% of patients with DRTA and 27.3% of patients with DRTA and hearing loss]. This study indicated that a significant percentage of the children with DRTA had sensorineural hearing loss and mutation in ATP6V1B1 gene. It is recommended to investigate hearing impairment in all children with DRTA

Sensorineural hearing loss in high school teenagers in Mexico City and its relationship with recreational noise / Las alteraciones auditivas de escolares adolescentes en la Ciudad de México pueden estar relacionadas al ruido recreativo

The aim of this study was to measure the frequency of hearing loss in a sample of typical public high-school students exposed to recreational noise, and determine associated risk factors. The sample was made up of 214 teenagers from a high-school in Mexico City; subjects were selected randomly per strata. We applied a questionnaire to identify risk factors for hearing loss and performed a battery of audiologic tests consisting of otoscopy, tympanometry, and pure-tone audiometry. The mean age of the sample was 16 ± 1.07 years; 73 percent were male and 27 percent, female. Hearing loss was found in 21 percent of students. The main hearing loss-related risk factor was exposure to recreational noise: frequent attendance at discotheques and pop-music concerts; use of personal stereos; and noise exposure in school workshops. The high frequency of hearing loss in high school students from one Mexico City school (nearly one fifth of the sample) was found to be related to noise exposure mainly during recreational activities.

El objetivo de este estudio fue medir la frecuencia de alteraciones auditivas en una muestra de escolares de educación media superior expuestos a ruido recreativo y determinar algunos factores de riesgo asociados. La muestra estuvo constituida por 214 adolescentes de una escuela de la Ciudad de México. Los sujetos fueron seleccionados al azar por medio de una computadora. Se aplicaron cuestionarios con el objeto de identificar los factores de riesgo para alteraciones auditivas y se les practicaron diversos estudios audiológicos consistentes en: otoscopía, timpanometría y una audiometría a tonos puros. La edad media de la muestra fue de 16 ± 1,07 años, 73 por ciento fueron del sexo masculino y 27 por ciento femenino. Se encontraron alteraciones auditivas en 21 por ciento de los estudiantes. Los principales factores de riesgo asociados a alteraciones auditivas fueron: exposición al ruido recreativo al asistir a discotecas, conciertos de música popular, el uso de equipos de sonido personales y la exposición al ruido en los talleres escolares. Se halló una alta frecuencia (casi una quinta parte) de alteraciones auditivas en alumnos de educación media superior asociada a la presencia de ruido recreativo excesivo.

Absence of mutations in GJB2 (Connexin-26) gene in an ethnic group of southwest Iran.

BACKGROUND: The common GJB2 gene mutation (35delG) has been previously reported from Iranian patients that were affected with nonsyndromic autosomal recessive deafness. We, therefore, for the first time, investigated the prevalence and frequency of the GJB2 gene mutation in the Iranian deaf population with Arabian origins. MATERIALS AND METHODs: We amplified and sequenced the entire coding sequence of the GJB2 gene from 61 deaf patients and 26 control subjects. RESULT: None of the analyzed samples revealed deafness-associated mutation. CONCLUSION: This finding differs from several reports from Iran as we have focused on the GJB2 gene that possesses various mutations as the cause of congenital recessive deafness.

Seguimiento audiológico del recién nacido de muy bajo peso / Hearing assesment in extremely low birth weight infants

Introducción: Los recién nacidos de muy bajo peso (RNMBP) pueden tener diversas deficiencias sensoriales como secuela de las patologías perinatales propias de esta población, entre ellas la hipoacusia sensorioneural (HSN). Objetivos: El objetivo del presente trabajo es establecerla prevalencia de HSN en lactantes con el antecedente de ser RNMBP, es decir, con peso de nacimiento menor a 1500 gramos. Material y método: Se incluyeron los pacientes con peso de nacimiento < 1500 gr, que nacieron en el Hospital San Juan de Dios (Santiago, Chile) entre el 1o de enero de 1999 y el 31 de diciembre de 2004. A todos los pacientes se les realizó examen de potenciales auditivos evocados y evaluación por otorrinolaringólogo. Se definió como audición normal un umbral < - 40 dBHL. Resultados: Ingresaron al seguimiento 147 pacientes, con una edad gestacional promedio de 30 + -2 semanas y peso de nacimiento promedio de 1235 + - 254 gr. De ellos 113 tuvieron umbral normal (76,9 por ciento), con una latencia para la onda I de 1,78 + - 0,21 ms, para la onda V de 6,34 + - 0,29 ms y para el intervalo l-V de 4,55 + - 0,26 ms. En 16 pacientes se diagnosticó hipoacusia bilateral (11 por ciento). En seis de ellos se confirmó el diagnóstico de HSN bilateral, lo que equivale al 4 por ciento > de la población Incluida en el estudio. Conclusión: La prevalencia de un 4 por ciento > de HSN en el grupo estudiado coincide con la literatura Internacional. Los potenciales auditivos evocados en la detección de HSN en RNMBP constituyen un examen confiable con una especificidad del 90 por ciento > y una sensibilidad del 100 por ciento.

Introduction. Very low birth weight newborns (ELBW) may present with different sensory deficiencies as a result of perinatal pathologies characteristic to this group; among them, sensorineural hearing loss (SNHL). Aims. The aim of the present study was to establish the prevalence of sensorineural hearing loss in ELBW (birth weight of less than 1500g) infants in a public hospital. Materials and Methods. Premature infants born with a birth weight < 1500 g, born at the Hospital San Juan de Dios (Santiago, Chile) between January 1st 1999 and December 31st 2004 were included. All patients were evaluated by auditory brainstem response, recording the hearing threshold, wave I and V latencies, and l-V interval. A normal threshold was defined as less or equal to 40 dB hearing level. Results. 147 patients were evaluated, with a gestational age of 30 +- 2 weeks and a birth weight of 1235 +-254 g. Ofthese, 113 had a normal ABR threshold (76.9%), withawavel latency of 1.78 +- 0.21, wave V latency of 6.37 +- 0.29, l-V interval 4.55 +- 0.26. Sixteen patients hada bilateral threshold higher than 40 dB (11 %). Of these patients, six had bilateral threshold elevation with an increase in l-V interval, suggesting central hearing impairment. Conclusion. In the population of premature infants evaluated, the prevalence of bilateral SNHL was 4%.

Hearing loss in young men: possible aetiological factors.

In the present retrospective register study a very large data base consisting of screening audiograms obtained at military conscription of 18-year-old Swedish men was used. The study group comprised 450,175 men, aged 18 years, tested at conscription to military service. There were nine age groups covering a 24-year period, from 1971 to 1995. This database was compared with a number of different pre- and postnatal factors with possible influence on the hearing function. This ecologic methodology gives tentative clues (but no proof) of possible ototraumatic influences. The hearing capacity was fairly similar during the entire span of the study and only small variations were observed. There was a slight tendency of better hearing capacity in the later age groups, compared with the earlier ones. The mean thresholds of the frequencies 4 and 6 kHz were slightly elevated in 1971, 1976 and, to some extent also in 1992. We tried to calculate the levels of leisure noise exposure during the study period. There was no apparent tendency of reduced noise levels, on the contrary the noise levels seemed to increase. The treatment programmes for acute otitis media (AOM) underwent considerable changes during the period from the early fifties to the early eighties, when the participants were pre-school children. One possible explanation for the slight improvement of the hearing capacity could be less ototraumatic influence of AOM. Data about the occurrence of four common epidemic diseases, covering the periods preceding and succeeding the years when the participants were born indicated that influenza and possibly pertussis (whooping cough), constitute putative prenatal risk factors for mild to moderate high frequency hearing loss.

[Nonsyndromic deafness-the segregation analysis]

The hearing loss is a problems of public health which can be described as major from the economic and human point of view, since 1 child over 1000 has at the birth a severe or profound deafness. This deafness has a prevalence of 1 per 10 in certain Tunisian geographical isolates. Our work concerned 33 patients with nonsyndromic sensorineural deafness who are regarded as probands and are recruited in service ORL of the Hospital La Rabta of Tunis. For each patient, a family investigation was carried out in residence and complete pedigrees were established. In addition, we selected a sample of 320 unaffected subjects for whom we established pedigrees in order to compare their inbreeding coefficient with that of the patients The samples of this study are orginated from the governorate of Bizerte The segregation analysis by the method of the maximum likelihood applied to the sample of deafs allowed to estimate the segregation frequency by taking account of various modes of selection in the sibships. The results obtained are compatible with autosomic recessive model with complete penetrance of the gene. The recessive hypothesis is strenghthened by the increase in the inbreeding coefficient of the probands compared to that of the controls