Evaluation of the newborn hearing screening program in the University of Santo Tomas Hospital based on the joint committee on infant hearing 2019 position statement on quality indicators for screening and confirmation of hearing loss

Objective@#To evaluate the newborn hearing screening program in the University of Santo Tomas Hospital based on the quality indicators set by the Joint Committee on Infant Hearing (JCIH) 2019 position statement.@*Methods@#Design: Cross-sectional study Setting: Tertiary Private Training Hospital Participants: All newborns delivered in 2019 at the University of Santo Tomas (UST) Hospital were considered for inclusion@*Results@#The UST Hospital had 778 newborns in 2019, of which 687 (88.3%) completed newborn hearing screening by 1 month of age. There were 81 (10.4%) who failed initial hospitalbased screening and required outpatient re-screening while 11 (1.4%) of those who failed initial screening also failed subsequent rescreening. Forty-five (5.7%) newborns failed initial screening and subsequently passed re-screening. None of the eleven (0/11) patients completed comprehensive audiologic evaluation thus, patients necessitating referral for intervention were not identified. There were a total of 67 (8.6%) dropouts throughout the hearing evaluation process. Fifteen (15) infants were not screened due to unavailability of trained personnel at time of referral, four (4) infants were advised third screening while two (2) were advised observation instead of proceeding to confirmatory test.@*Conclusion@#The University of Santo Tomas Hospital newborn hearing screening program has yet to reach the quality indicators set by the Joint Committee on Infant Hearing 2019 for screening and confirmation of hearing loss. Among identified areas for improvement are the availability of trained personnel, insufficient means to ensure compliance, reluctance to pursue further testing and practices among healthcare providers.

Tamizaje auditivo universal neonatal en Hospital Clínico La Florida Dra. Eloísa Díaz Insunza: Experiencia 2015-2021 / Universal newborn hearing screening at Hospital Clínico La Florida Dra. Eloísa Díaz Insunza: Experience 2015-2021

Introducción: La hipoacusia congénita es una patología frecuente entre los recién nacidos con gran impacto en su calidad de vida si no es diagnosticada y tratada precozmente. Para su pesquisa, se recomienda, internacionalmente, el tamizaje auditivo universal neonatal (TAUN), que desde 2014 se aplica en el Hospital Clínico La Florida Dra. Eloísa Díaz Insunza (HLF). Objetivo: Describir la experiencia del programa de TAUN del Servicio de Otorrinolaringología HLF. Material y Método: Estudio descriptivo, retrospectivo. Se incluyó a todos los recién nacidos vivos (RNV) del establecimiento entre 2015 y 2021, evaluados de acuerdo con el protocolo del programa. Resultados: Fueron evaluados 17.804 RNV. Se obtuvo una cobertura de 97,1% y tasa de referencia de 0,98%. Se confirmaron a 21 pacientes con hipoacusia sensorioneural (HSN), obteniéndose una tasa de HSN de 1,5 cada 1.000 RNV. Conclusión: La tasa de incidencia de HSN congénita fue similar a la estimada a nivel mundial. El programa de TAUN HLF cumple con estándares internacionales en cuanto a cobertura, tiempo de evaluación del tamizaje y tasa de referencia. El trabajo multidisciplinario, mejoría de tecnología y registro adecuado de pacientes, son las principales fortalezas. La dificultad de seguimiento durante horario inhábil y presencia de sólo un profesional con dedicación exclusiva, son aspectos a perfeccionar.

Introduction: Congenital hearing loss is a frequent pathology among newborns with great impact on their quality of life if it is not diagnosed and treated early. The Joint Committee on Infant Hearing recommends universal newborn hearing screening (UNHS) and has been applied at the Hospital Clínico La Florida Dra. Eloísa Díaz Insunza (HLF) since 2014. Aim: To describe the experience of UNHS program at the Otolaryngology Service of the HLF. Material and Method: Descriptive, retrospective study, including all newborns of the HLF between 2015 and 2021. They were evaluated according to the protocol proposed in the program. Results: 17804 newborns were evaluated. Coverage of 97,1% and a referral rate of 0,98% were obtained. Twenty-one patients with sensorineural hearing loss (SNHL) were confirmed, obtaining a SNHL rate of 1.5 per 1000 live births. Conclusion: The incidence rate of congenital SNHL is similar to that estimated worldwide. The UNHS program in HLF complies with international standards in terms of coverage, timing and referral rates. Multidisciplinary work, improved technology and adequate patient registration are the main strengths of the program. The difficulty of follow-ups during the weekends and the presence of only one full-time professional are aspects that can be improved.

Congenital hearing loss: a literature review of the genetic etiology in a Mexican population / Pérdida auditiva congénita: revisión de la etiología genética en la población mexicana

Abstract Hearing loss is the most frequent sensory disorder, with an incidence of 1:1500 live newborns. In more than 50% of patients, it is associated with a genetic cause, while in up to 30% of cases, it is related to syndromic entities. We performed a literature review of studies on congenital hearing loss of genetic origin in the Mexican population. We identified eight reports that showed that the pathogenic variants most frequently associated with hearing loss are related to the GJB2 gene, although in a low percentage (3%). Other mutations were identified in the GJB6, SLC26A4, or CHD23 genes. On this basis, a possible diagnostic strategy in Mexican patients with hearing loss is to consider an initial screening of these three genes. If these genes were negative for pathogenic variants, the following steps would be to consider second-generation sequencing analysis focused on panels of genes associated with hearing loss, isolated or syndromic, and if necessary, to perform exome or whole-genome analysis. Establishing an etiologic cause is critical in clinically evaluating patients with congenital hearing loss and their families. It can help determine rehabilitation strategies, such as hearing aids or cochlear implants and provide information on disease progression and genetic counseling in this population.

Resumen La pérdida auditiva es la alteración sensorial más frecuente, con una incidencia de 1:1500 recién nacidos vivos. En más del 50% de los pacientes se asocia con una causa genética, mientras que en más del 30% de los casos se asocia con entidades sindrómicas. Se llevó a cabo una revisión de la literatura de las investigaciones sobre la pérdida auditiva congénita de origen genético en la población mexicana. Se identificaron ocho reportes en los que se demostró que las variantes patogénicas más frecuentemente asociadas con pérdida auditiva se encuentran en el gen GJB2, aunque en un porcentaje bajo (3%). Se identificaron otras mutaciones en los genes GJB6, SLC26A4 o CHD23. Con base en esta información, una posible estrategia diagnóstica en pacientes mexicanos con pérdida auditiva es considerar un primer paso en el tamiz diagnóstico con los tres genes mencionados. Si estos genes fueran negativos para variantes patogénicas, el siguiente paso sería considerar el análisis por secuenciación de segunda generación enfocado en paneles de genes asociados con pérdida auditiva, tanto aislada como sindrómica, y en caso necesario, realizar el análisis del exoma o del genoma completo. Establecer una causa etiológica es un componente crítico en la evaluación clínica de los pacientes con pérdida auditiva congénita, ya que puede ayudar a determinar las estrategias de manejo y rehabilitación, como el uso de auxiliares auditivos o implantes cocleares, proporcionar información sobre la progresión de la enfermedad y dar asesoramiento genético en esta población.

Indicadores de calidad del Programa de Detección Precoz de Hipoacusia Permanente del Hospital Padre Hurtado / Quality indicators of the newborn hearing screening program in Hospital Padre Hurtado

Introducción: La detección precoz de hipoacusia permanente en lactantes beneficia el desarrollo integral del paciente. Los programas cuyo objetivo es la identificación universal de hipoacusia debieran tener como meta determinados criterios de calidad en su ejecución. Objetivo: El objetivo del presente trabajo es comunicar los resultados del Programa de Detección Precoz de Hipoacusia en el Hospital Padre Hurtado. Material y método: Se incluyen los recién nacidos entre el 1 de enero de 2014 y el 31 de agosto de 2016. Los pacientes sin factores de riesgo para hipoacusia congénita se evalúan con examen de emisiones otoacústicas, y los pacientes con factores de riesgo con potenciales auditivos automatizados de tronco encefálico. Refieren aquellos pacientes con exámenes alterados en forma uní o bilateral. La etapa diagnóstica incluye potenciales auditivos evocados con tono, impedanciometría de alta frecuencia y audiometría de refuerzo visual. Los pacientes con diagnóstico de hipoacusia permanente son amplificados e inician proceso de habilitación. Resultados: En el período de estudio el universo a evaluar fue de 12.313 recién nacidos. Se completó la etapa de pesquisa en 98.4% con una tasa de referencia de 0.6%. 79 pacientes pasaron a etapa diagnóstica, completaron su evaluación antes de 3 meses en 95% de los casos. Se confirmó hipoacusia sensorioneural en 7 casos, con una tasa de 0.56 por 1.000 recién nacidos vivos. En 57% de los pacientes se amplificaron antes de los seis meses de vida. Conclusiones: El Programa de Hipoacusia Congénita del Hospital Padre Hurtado cumple con los indicadores de calidad recomendados en los ítemes de pesquisa y diagnóstico. En la etapa de habilitación con audffonos esto se realiza antes de los seis meses de vida sólo en 57% de los casos.

Introduction: Quality indicators of the newborn hearing screening program in Hospital Padre Hurtado. Aim: Asses the accomplishment of quality indicators of the newborn hearing screening program in Hospital Padre Hurtado, Chile, as proposed by the Joint Committee on Infant Hearing Loss (JCIH). Material and method: Two stage screening protocol: otoacoustic emissions for babies in the well-infant nursery and automated auditory brainstem responses for those in the intensive care unit orwith risk factors. If they fail one or both ears they proceed to a comprehensive audiological assessment. Results: 12.313 live births between 01/01/2014 and 108/31/16, 12.103 were screened before discharge (98.4%). 79 cases proceeded to diagnostic assessment, referral rate 0.6%. 95% infants completed audiological evaluation before three months, seven cases were diagnose with permanent sensorineural hearing loss for a prevalence of 0.56 per 1000 live births. Amplification was provided before 6 months of age in 57% of deaf children. Conclusions: Quality indicators of the JCIH are met by our newborn hearing screening program with the exception of adequate timing for the provision of hearing aids: 57% before six months of age.

Programa de screening auditivo neonatal universal: experiencia de más de 10 años / Universal newborn hearing screening program: experience over 10 years

Introducción: La implementación de Programas de Evaluación Auditiva Neonatal (PEAN) eficientes permite mejorar la pesquisa de recién nacidos (RN) con hipoacusia congénita (HC), facilitando una intervención temprana. Objetivo: Describir los resultados del PEAN universal llevado a cabo por el Departamento de Otorrinolaringología de Clínica Las Condes. Material y método: Estudio descriptivo, retrospectivo. Se estudiaron los resultados del programa y las variables: género, edad de diagnóstico, edad gestational al parto y factores de riesgo asociados al desarrollo de HC en RN evaluados entre mayo 2001 y junio 2012. Resultados: Fueron evaluados 18.224 RN. Reprobaron esta evaluación 809 RN (4,43%). Se diagnostican 70 HC (56% varones, 44% mujeres), con una incidencia general estimada de 3-4 cada 1.000 RN en este establecimiento. 54,3% correspondió a HC unilaterales y 45,7% a bilaterales, siendo éstas en 90% leves a moderadas. El factor de riesgo mayormente asociado fue presencia de anomalías craneofaciales en 38,5% seguido de un peso nacimiento <1.500 gr. en 10%. Discusión y conclusiones: Es imperativo la realización de PEAN universales para diagnosticar a la población general susceptible a desarrollar HC y más aún en aquellas poblaciones donde se concentran los factores de riesgo.

Introduction: Efficient universal newborn hearing screening program (UNHSP) Implementation allows the inquest improvement of newborns with congenital hearing loss (CHL), facilitating an early intervention. Aim: To describe the results of the UNHSP carried out by the Department of Otorhinolaryngology of Clinica Las Condes. Material and method: Descriptive, retrospective study. We studied the program results and variables: sex, diagnosis age, birth age in weeks and risk factors associated with development CHL in newborns evaluated between May, 2001 and June, 2012. Results: 18.224 newborns were evaluated. 809 reproved this evaluation (4.43%). We diagnosed 70 CHL (56% males, 44% women), with an incidence estimated of 3-4 cases every 1.000 newborns. 54.3% corresponded to unilateral CHL and 45.7% bilateral, 90% of this CHL were slight to moderate. The presence of craniofacial anomalies was the main associate risk factor in 38,5% followed by a weight birth <1.500 gr. in a 10%. Discussion and conclusions: Is imperative the accomplishment of UNHSP to diagnose the population at risk of developing CHL and even more in those populations where the risk factors are concentrated.

Pesquisa audiológica y molecular para pérdida auditiva por mutación 35delG en el gen de la conexina 26 e infección congénita por citomegalovirus / Audiologic and molecular screening for hearing loss by 35delG mutation in connexin 26 gene and congenital cytomegalovirus infection

Las pérdidas auditivas pueden ser atribuidas a factores genéticos o ambientales. Las mutaciones en el gen de la proteína Cx26 (conexina 26) son responsables de un 30-80% de los casos de pérdida auditiva profunda no sindrómica. La variante 35delG es la prevalente en la población caucásica. Entre los factores ambientales, el citomegalovirus (CMV) es la principal causa de infección congénita. Objetivos. Determinar la prevalencia de infección congénita por CMV y la frecuencia de la mutación 35delG en recién nacidos. Identifcar aquellos con riesgo de pérdida de audición con el fn de realizar un seguimiento audiológico para detectar precozmente las hipoacusias. Material y métodos. Se analizaron 1020 muestras de sangre seca, en papel, de recién nacidos, por PCR convencional y en tiempo real. Se efectuaron las otoemisiones acústicas antes del alta hospitalaria a todos los niños. El seguimiento audiológico se realizó tanto a los portadores de 35delG como a los que tuvieron infección congénita por CMV. Resultados. De los pacientes estudiados, 15 fueron heterocigotas para la mutación 35delG. No se detectaron homocigotas. Seis de las muestras fueron positivas para CMV (resultados confirmados en orina); de ellos, solo un neonato fue sintomático. A todos estos niños se les realizaron las evaluaciones audiológicas; presentaron hipoacusia tres niños con infección congénita por CMV y dos portadores de la mutación 35delG. Conclusión. Se detectó un 1,3% de portadores de la mutación 35delG y una frecuencia de infección congénita por CMV del 0,6%. El seguimiento audiológico de estas dos poblaciones permitió la detección de hipoacusias tardías.

Introduction. Hearing loss may be attributed to genetic and environmental factors. Mutations in the gene of the CX26 protein (connexin 26), are responsible for 30-80% of all cases of non-syndromic profound hearing loss. The 35delG is the most frequent variant in the caucasian population. As to environmental factors, the cytomegalovirus (CMV) is the main cause of congenital infection. Objetives. To determine the prevalence of congenital CMV infection and the frequency of the 35delG mutation in newborns. To identify those at risk of suffering hearing loss in order to do an audiologic follow-up of detected cases. Materials y methods. One thousand and twenty samples of dry blood spots corresponding to newborns were tested using conventional and real time PCR. Audiologic screening was performed to all newborns before hospital discharge. Results. Fifteen out of 1020 subjects were heterozygous for the mutation. No homozygous patients were found. Six out of the samples tested positive for CMV (confrmed by a urine sample), out of which only one newborn was symptomatic. The auditory brainstem response was recorded in all these children. Hearing loss was found in three children with congenital CMV infection and two with 35delG mutation. Conclusion. The frecuency of 35delG mutation carriers in our population was 1.3% and the CMV congenital infection prevalence was 0.6%. Audiologic monitoring of these two populations allowed detection of hearing loss of late onset.

Genetic Background of Congenital Hearing Loss

Understanding the genetic background of hearing loss is important since almost 50% of the cases of profound hearing loss are caused by genetic factors. Until now, more than 150 causative genes have been identified. In this review, classification of genetic hearing loss (syndromic versus non-syndromic, recessive versus dominant, X-linked and mitochondrial), pitfalls in elucidating causative genes, anatomy of the inner ear, introduction of the most common syndromic hearing loss, introduction of the most common non-syndromic hearing loss-causing genes, mitochondrial and multifactorial hearing losses were discussed. Moreover, clinical approaches to the patients with hereditary hearing loss and genetic counseling were also explained briefly. Finally, future directions of the hereditary hearing loss research in Korean population were presented.

Analysis of newborn hearing screening using automated auditory brainstem response / 소아과

PURPOSE: As hearing ability affects language and cognitive development, early detection and intervention of congenital hearing defects is very important. We analyzed the result of newborn hearing screening using automated auditory brainstem response and estimated the incidence of congenital hearing defects in newborn infants in Korea. METHODS: Hearing screening tests were done on 7,218 newborn infants who were delivered at Cheil General Hospital from July 1, 2004 to June 30, 2005. The first screening test was done on the second day of life with automated auditory brainstem response(AABR) using ALGO(3) Newborn hearing screener(Natus(R) Medical Incorporated, San Carlos, USA) with 35 dB sound level. The newborn infants who did not pass the initial screening test took the second screening AABR test before discharge from the nursery. Infants who did not pass these screenings at the nursery were followed up at the Department of Otorhinolaryngology, Samsung Seoul Hospital. RESULTS: Total 7,218 infants(83.3 percent of total 8,664 live births of the Cheil General Hospital) were screened in the nursery, and 55 of them failed to pass the newborn screening. Among 55 infants who were referred, six were lost during follow-up, and 14 were confirmed as hearing impaired. Six of them(42.8 percent) do not have any risk factors for hearing impairment. We can estimate that the incidence of hearing defects is about 1.9-2.8 per 1,000 live births. CONCLUSION: Automated auditory brainstem response is an effective tool to screen the hearing of newborn infants. Congenital hearing loss is more frequent than metabolic diseases on which screening tests are available in the newborn period. About 40 percent of infants who have hearing defects do not have any risk factors for hearing impairment. Therefore, universal newborn hearing screening must be recommended to all neonates.

Analysis of 11 275 Cases of Neonatal Hearing Screening / 听力学及言语疾病杂志

Objective To develop the neonatal hearing screening,investigate the incidence and relevant high-risk factors of congenital hearing loss,and explore feasible methods of early screening,diagnosis,following-up and intervention.Methods DPOAE was used for the newborns.The children who failed the tests or had high-risk factors of hearing loss were re-screened using DPOAE and AABR 42 days.ABR was used as the diagnostic test for those who had abnormal results at 3 months,ABR and ASSR were used at 6 months for the second diagnosis.The children with hearing loss were intervened in time,and were arranged for routine following-up and audiological evaluation.Results The normal neonates who failed the first screening was 14.8%,infants with high-risk factors was 21.5%,the large number of normal infants passed re-screening and half of high-risk neonates failed.By analysis of patients who had three-month diagnosis,the incidence of congenital hearing loss was about 2.75‰,and mild-grade,middle-grade,severe,profound was 0.18‰,1.78‰,0.26‰ and 0.53‰ respectively.Conclusion The incidence of congenital hearing loss is the highest in congenital diseases,usual screening is necessary.Questionnaire for high-risk factors of hearing loss must be done;it is very important to follow-up the abnormal infants.