Prevalência e fatores associados à realização dos exames de triagem neonatal no Brasil: comparação da PNS 2013 e 2019 / Prevalence of neonatal screening and associated factors in Brazil: a comparison of the 2013 and 2019 National Health Surveys

Resumo Analisou-se a prevalência e fatores associados à realização da Triagem Neonatal Completa (TNC) entre crianças (<2 anos de idade) no Brasil incluídas na Pesquisa Nacional Saúde 2013 (n=4.442) e 2019 (n=5.643). Estudo transversal comparou as estimativas de prevalência e intervalos de confiança de 95% (IC95%) da TNC (testes do olhinho, orelhinha e pezinho). Diferenças foram consideradas estatisticamente significante ao nível de 5%. Regressões de Poisson bruta e ajustada foram realizadas para estimar Razões de Prevalência (RP) e IC95% para a associação das variáveis socioeconômicas, demográficas e de saúde com a TNC. Verificou-se aumento estatisticamente significante da TNC: 67,4% (IC95%: 65,5-69,3) em 2019, ante 49,2% (IC95%: 47,1-51,3) em 2013. Porém, ainda existem desigualdades e defasagens entre os estados da federação e variáveis sociodemográficas. Entre os anos, a TNC foi menor nas crianças de cor/raça parda e preta, dos três piores quintis de renda, sem plano de saúde, cadastradas na Estratégia de Saúde da Família, da região norte, de cidades do interior e da zona rural do Brasil. Apesar de o aumento da prevalência de TNC, desigualdades e defasagens individuais e contextuais permaneceram, indicando os desafios das políticas de saúde.

Abstract This study analyzed the prevalence of complete neonatal screening (CNS) of children aged under 2 years in Brazil and associated factors using data from the 2013 (n=4,442) and 2019 (n=5,643) national health surveys. We conducted a cross-sectional study to compare prevalence of CNS (eye, ear and heel prick tests) adopting 95% confidence intervals (95%CI) and a 5% significance level. Crude and adjusted Poisson regression was performed to estimate prevalence ratios (PR) and 95%CI to assess the association between socioeconomic, demographic and health variables and CNS. There was a statistically significant increase in CNS prevalence, from 49.2% (95%CI: 47.1-51.3) in 2013 to 67.4% (95%CI: 65.5-69.3) in 2019. However, large disparities persist across states and between sociodemographic groups. In both years, CNS prevalence was lowest among brown and black children, those from families in the three lowest income quintiles, children without health insurance, those from families registered in the Family Health Strategy and children living in the North, cities outside the state capital/metropolitan regions and rural areas. Despite the increase in prevalence of CNS, deep individual and contextual inequalities persist, posing challenges for health policies.

Infección congénita por citomegalovirus, hipoacusia y tamizaje neonatal. Una actualización

El citomegalovirus congénito (CMVc) es la infección congénita más común y la principal causa no genética de hipoacusia congénita. Gran parte de los recién nacidos (RN) con CMVc sintomático desarrolla secuelas graves permanentes, donde la hipoacusia es la más frecuente. Sin embargo, el 90% de los casos se presenta en forma asintomática, pudiendo desarrollar secuelas auditivas tardías. El diagnóstico precoz de CMVc requiere un alto índice de sospecha. Actualmente, técnicas eficientes para su detección están disponibles, lo que facilita el diagnóstico en las primeras 3 semanas de vida. La terapia antiviral es la primera línea de tratamiento para el CMVc sintomático, logrando buenos resultados auditivos. A pesar de los avances en los métodos de detección y beneficios del tratamiento, los RN no son tamizados para CMVc. El tamizaje selectivo de CMVc en pacientes que no pasan el screening auditivo facilita la intervención precoz en los casos identificados, pero no permite detectar el número significativo de niños que presenta hipoacusia de aparición tardía. El tamizaje universal permite hacer seguimiento auditivo a los pacientes en riesgo de desarrollar hipoacusia sensorioneural (HSN) por CMVc, identificando así los casos de hipoacusia de aparición tardía, pero la costo-efectividad es aún controversial. Es necesario avanzar en una estrategia local para el tamizaje de CMVc, buscando reducir su impacto a nivel nacional.

Congenital cytomegalovirus (cCMV) is the most common congenital infection and the main non-genetic cause of congenital hearing loss. A significant number of newborns (NB) with symptomatic cCMV will develop permanent serious sequelae, being hearing loss the most frequent. However, 90% of the cases are asymptomatic and may develop late auditory sequelae. Early diagnosis of cCMV requires a high index of suspicion. Currently, efficient detection techniques for its detection are available, which facilitates diagnosis within the first 3 weeks of life. Antiviral therapy is the first line of treatment for symptomatic cCMV, achieving good hearing results. Despite advances in detection methods and the benefits of antiviral therapy, NB are not routinely screened for cCMV. Selective screening for cCMV in patients who fail newborn hearing screening facilitates early intervention in identified cases but fails to detect a significant number of children with late onset hearing loss. Universal screening allows hearing follow up in patients at risk of developing sensorineural hearing loss (SNHL) due to cCMV, thus identifying late-onset hearing loss cases, but cost-effectiveness is still controversial. It is necessary to advance in a local strategy for cCMV screening, aiming to reduce its national impact.

Screening threshold for congenital adrenal hyperplasia in preterm and full-term infants by an indirect method / 中华实用儿科临床杂志

Objective:To analyze the difference and reliability of blood 17-hydroxyprogesterone (17-OHP), an indirect screening index for congenital adrenal hyperplasia (CAH), between preterm and full-term infants.Methods:In this retrospective cross-sectional study, a total of 210 285 newborns who underwent CAH screening at the Neonatal Screening Center of Shanghai Children′s Hospital from January 2019 to December 2022 were collected, including 14 312 premature infants and 195 973 full-term infants.The concentration of 17-OHP in dried blood spots on filter paper was determined by an automatic fluorescence analyzer.The distribution of 17-OHP levels in preterm and full-term infants and its statistical index were analyzed.The Kolmogorov-Smirnov test was used for normal distribution.The skewed distribution data was converted into approximately normal distribution using Box-Cox.Outliers were eliminated by the interquartile range method.The cumulative frequency distribution map was drawn by R language programming.The 99.5 th percentile value was used as the screening threshold and compared with the reference value given by the manufacturer or laboratory and with the reference change value (RCV). Results:According to the threshold provided by the laboratory, 26.76‰ of premature infants were tested positive in preliminary screening, and 4 were confirmed with an incidence of 1∶3 578, while 0.79‰ of full-term infants were tested positive in preliminary screening, and 11 were confirmed with an incidence of 1∶17 816.The thresholds for CAH screening established indirectly were 20.35 nmol/L in preterm infants and 10.78 nmol/L in full-term infants.The relative deviations between the indirect CAH screening thresholds and the manufacturer′s or laboratory′s CAH screening thresholds were higher than the RCV, respectively.According to the indirect CAH screening thresholds, the negative and positive coincidence rates of 65 samples in 13 batches from the Centers for Disease Control and Prevention interlaboratory quality assessment program in the United States reached 100%.A retrospective analysis of 210 285 neonates showed that 17-OHP concentration was higher than the screening threshold in all CAH-positive neonates.The application of this screening threshold reduced the false positive rate of preterm infants by 59.79%.Conclusions:It is feasible to establish the CAH screening thresholds for premature and full-term infants by an indirect method, which can improve the efficiency of screening and provide better diagnostic basis for clinical practice.

Advances in application of 21-deoxycortisol in the diagnosis and monitoring of 21-hydroxylase deficiency / 国际儿科学杂志

With the whole life involvement，21-hydroxylase deficiency（21-OHD）affects the quality of life，and the death rate of salt wasting form is high，thus the timely diagnosis and standardized treatment are needed. Traditionally，17-hydroxyprogesterone（17-OHP）is an indicator for screening，diagnosis and monitoring of 21-OHD. However，17-OHP has some limitations，such as high false-positive rate in neonatal screening，high fluctuation，and interference of puberty and menstrual cycle，etc. Therefore，attempts have been made to find better indicators to help guide clinical practice. Recently，several studies have suggested that 21-deoxycortisol（21-DF）may be a more specific marker for 21-OHD，which has the following advantages：no elevation is observed in premature infants or patients with other forms of congenital adrenal hyperplasia，and the blood sample timing doesn't affect the detection of 21-DF；21-DF is a reliable diagnostic marker of non-classical 21-OHD；adrenal gland is the only source of 21-DF. Therefore，this article reviews the limitations of 17-OHP and the relative advantages of 21-DF.

Findings of ocular examinations in healthy full-term newborns / Achados de exame ocular realizado em recém-nascidos a termo saudáveis

ABSTRACT Purpose: To assess the anterior and posterior segments of full-term neonates over a 1.5-year period. Methods: The findings of full-term neonates who underwent ophthalmological examinations between June 2019 and December 2020 were analyzed, and the results were retrospectively recorded. Results: The study comprised 2972 neonates with a mean birth week of 38.7 ± 1.2 weeks and a mean birth weight of 3235 ± 464 g. The neonates were examined on an average of 49.3 ± 18.9 postnatal days. Of the examined neonates, 185 (6.2%) showed abnormal ophthalmological findings, the most prevalent of which were retinal hemorrhage in 2.3% (n=68) and white changes in the peripheral retina in 1.9% (n=55) of the neonates. Cases of optic disc pathologies (n=20), choroidal nevus (n=10), iris-choroidal coloboma (n=5), subconjunctival hemorrhage (n=6), non-specific retinal pigmentary change (n=4), congenital cataract (n=3), posterior synechia (n=3), iris nevus (n=3), corneal opacity (n=1), choroidal coloboma (n=1), iris coloboma (n=1), buphthalmos (n=1), anophthalmos (n=1), microphthalmia (n=1), lid hemangioma (n=1), and vitreous hemorrhage (n=1) collectively accounted for approximately 2% of all neonates. Pathologies that could potentially impair vision, which were detected by ophthalmological examination, accounted for 1.2% of all neonates (n=37). Conclusion: The most prevalent finding of the ophthalmological examinations of neonates in the present study was retinal hemorrhage. Ophthalmological examinations of neonates can help in identifying diseases that may affect their vision and are curable or may lead to amblyopia in the long term.

RESUMO Objetivo: Avaliar os segmentos anterior e posterior em recém-nascidos a termo durante um período de 1,5 anos. Métodos: Foram analisados recém-nascidos a termo que tiveram os olhos examinados entre junho de 2019 e dezembro de 2020, e os resultados foram registrados retrospectivamente. Resultados: O estudo foi composto por 2.972 recém-nascidos com média de uma semana de nascimento de 38,7 ± 1,2 semanas e um peso médio ao nascer de 3235 ± 464 g. Os recém-nascidos foram examinados em média pós-natal de 49,3 ± 18,9 dias. Dos recém-nascidos, 185 (6,2%) apresentaram resultados oculares anormais. Os achados oculares anormais mais prevalentes foram hemorragia da retina em 2,3% (n=68) e alterações brancas na retina periférica em 1,9% (n=55) dos recém-nascidos. Casos de patologias de disco óptico (n=20), nevo de coroide (n=10), coloboma iris-coroide (n=5), hemorragia subconjuntival (n=6), alteração pigmentar da retina não específica (n=4), catarata congênita (n=3), Sinequia posterior (n=3), nevo da íris (n=3), opacidade da córnea (n=1), coloboma de coroide (n=1), coloboma de íris (n=1), buftalmos (n=1), anoftalmia (n=1), microftalmia (n=1), hemangioma de pálpebra (n=1) e hemorragia vítrea (n=1) contabilizaram coletivamente cerca de 2% dos recém-nascidos. As patologias que potencialmente prejudicam a visão, detectadas por exame ocular, representaram 1,2% dos recém-nascidos (n=37). Conclusão: O achado mais prevalente de exames oculares de recém-nascidos neste estudo foi hemorragia da retina. Exames oftalmológicos em recém-nascidos podem ser úteis na identificação de doenças que podem impactar a visão deles, podendo ser curáveis ou levar à ambliopia no longo prazo.

Panorama da Saúde Auditiva infantil no Sistema Único de Saúde no estado de Sergipe / Children's Hearing Health Panorama in the Unified Health System in the state of Sergipe

RESUMO Objetivo Descrever o panorama da saúde auditiva infantil no Sistema Único de Saúde do estado de Sergipe. Método Estudo quantitativo e retrospectivo, composto por quatro etapas: 1) Busca no Cadastro Nacional de Estabelecimento de Saúde das instituições conveniadas ao Sistema Único de Saúde no estado de Sergipe que realizam serviços obstétricos e dos serviços que atuam na saúde auditiva; 2) Obtenção de dados de cobertura da Triagem Auditiva Neonatal (TAN), por meio do DATASUS (de 2012 a 2020); 3) Coleta de dados em prontuários das instituições com obstetrícia e/ou que realizam a TAN; e 4) Entrevista aos responsáveis das crianças em reabilitação auditiva. Os resultados foram sumarizados por meio de estatística descritiva (frequência absoluta e relativa, medidas de tendência central e de dispersão). Resultados Dos 29 estabelecimentos com obstetrícia, um realiza a TAN. Há dois Centros de Referência em Saúde Auditiva (CRSA) com habilitação para implante coclear e dois Centros Especializados em Reabilitação. De 2012 a 2020 a cobertura da TAN no estado foi inferior a 40% e quando realizada na maternidade, houve ausência de encaminhamentos para a realização do Potencial Evocado Auditivo de Tronco Encefálico (PEATE) e do diagnóstico audiológico. Observou-se cobertura considerável no CRSA com menor taxa de evasão para realizar PEATE e com taxa de diagnóstico de 4,8%. O tempo médio da TAN universal à reabilitação foi superior ao recomendado. Conclusão Existe necessidade de aumentar a cobertura da TAN, ajustar a rede de saúde auditiva para a articulação nos diferentes níveis de atenção e diminuir o tempo para identificação, diagnóstico e início da reabilitação.

ABSTRACT Purpose To describe the panorama of children's hearing health in the Unified Health System of the state of Sergipe. Methods A quantitative and retrospective study consisting of four steps: 1) Search the National Registry of Health Establishments of institutions affiliated to the Health Unic System in the state of Sergipe that perform obstetric services and hearing health services; 2) Collecting Neonatal Hearing Screening (NHS) coverage data through DATASUS (from 2012 to 2020); 3) Data collection from medical records of institutions with obstetrics and that perform NHS; and 4) Interview with the guardians of children undergoing auditory rehabilitation. The results were summarized using descriptive statistics (absolute and relative frequency, measures of central tendency, and dispersion). Results Only one out of the 29 establishments with obstetrics performs NHS. Two of the Hearing Health Reference Centers (HHRC) are qualified for cochlear implants and two Specialized Centers are qualified for Rehabilitation. From 2012 to 2020, NHS coverage in the state was less than 40%, and when performed in the maternity ward, there were no referrals for Brainstem Auditory Evoked Response (BERA) and audiological diagnosis. The HHRC showed considerable coverage and a lower evasion rate to perform BERA, with a diagnosis rate of 4.8%. The mean time from the NHS to rehabilitation was longer than recommended. Conclusion NHS coverage must be increased, adjusting the hearing health network to articulate the different levels of care, and reducing the time for identification, diagnosis, and start of rehabilitation.

Biological screening for congenital toxoplasmosis in newborns from Jataí, Goiás, Brazil: a cross-sectional study / Cribado biológico de la toxoplasmosis congénita en recién nacidos de Jataí, Goiás, Brasil: un estudio transversal / Triagem biológica de toxoplasmose congênita em recém-nascidos de Jataí, Goiás: um estudo transversal

ABSTRACT Objective: To conduct a serological screening for toxoplasmosis in the heel prick test and to evaluate its epidemiological aspects in newborns and postpartum women in Jataí, Goiás. Method: Cross-sectional epidemiological study for the biological screening of newborns in Jataí, Goiás. Results: The study participants amounted to 228 newborns, whose samples were collected between the third and seventh day of life. IgG antibodies against Toxoplasma gondii were detected in 40.79% (93/228) of the samples; out of these, 23.6% (22/93) had high IgG antibody titers, leading to the collection of two other peripheral blood samples and the detection of a decrease in these titers. Conclusion: The findings show the importance of strengthening actions in primary health care to prevent infection and training health professionals in this area to equip them with information regarding cases of reinfection and reactivation of infection in pregnant women, minimizing risks for babies.

RESUMEN Objetivo: Realizar un cribado serológico de la toxoplasmosis en la prueba del talón y evaluar sus aspectos epidemiológicos en los recién nacidos y puérperas en Jataí, Goiás. Método: Estudio epidemiológico transversal para el cribado biológico de los recién nacidos en Jataí, Goiás. Resultados: Participaron en el estudio 228 recién nacidos, cuyas muestras fueron recolectadas entre el tercer y séptimo día de vida. Se detectaron anticuerpos IgG contra Toxoplasma gondii en el 40,79% (93/228) de las muestras; de ellos el 23,6% (22/93) presentaban títulos elevados de anticuerpos IgG y de ellos se recogieron otras dos muestras de sangre periférica; se detectó una disminución de estos títulos. Conclusión: Los hallazgos muestran la importancia de fortalecer las acciones en la atención primaria de salud para prevenir la infección y capacitar a los profesionales de la salud en esta área para dotarlos de información sobre los casos de reinfección y reactivación de la infección en mujeres embarazadas, minimizando los riesgos para los bebés.

RESUMO Objetivo: Realizar a triagem sorológica da toxoplasmose no teste do pezinho e avaliar os aspectos epidemiológicos em recém-nascidos e puérperas de Jataí, Goiás. Método: Estudo epidemiológico transversal para a triagem biológica de recém-nascidos em Jataí, Goiás. Resultados: Participaram desta pesquisa 228 recém-nascidos, sendo coletadas amostras entre o terceiro e o sétimo dia de vida. Foram detectados anticorpos IgG anti Toxoplasma gondii em 40,79% (93/228) das amostras; destes, 23,6% (22/93) apresentaram altos títulos de anticorpos IgG e tiveram outras duas amostras de sangue periférico coletadas, sendo verificada a diminuição desses títulos. Conclusão: Tais achados demonstraram a importância do fortalecimento de ações junto à atenção primária à saúde para a prevenção da infecção, assim como a capacitação de profissionais da saúde que atuam nesta área, para que sejam munidos de informações referentes a casos de reinfecção e reativação da infecção em gestantes, minimizando os riscos para os bebês.

Oximetria de pulso neonatal: capacitação de profissionais e estudantes da saúde no formato remoto e presencial / Neonatal pulse oximetry: training healthcare professionals and students in remote and on-site format / Pulsioximetría neonatal: formación de profesionales y estudiantes de la salud a distancia y presencial

Introdução:A oximetria de pulso neonatal compõe o Programa Nacional de Triagem Neonatal do Brasil desde 2014. Entretanto, existem poucos registros de sua efetiva implementação na rotina de cuidados materno-infantis no país.Objetivo:O objetivo deste trabalho foi relatar a experiência em ações de educação em saúde a profissionais e estudantes da área da saúde e à população em geral, em temas relacionados ao Teste do Coraçãozinho.Metodologia:Trata-se de um estudo descritivo, do tipo relato de experiência, executado entre julho de 2019 a julho de 2021, antes e durante a pandemia de Covid-19, por discentes vinculados ao projeto de extensão de serviço universitário de referência do Rio Grande do Norte. O público-alvo das capacitações foram estudantes e profissionais do curso de Medicina, Enfermagem e Técnico de Enfermagem dos municípios de Natal, Macaíba, Santa Cruz, Currais Novos, Mossoró e Caicó, do estado do Rio Grande do Norte. Foi realizada uma capacitação no formato presencial antes da pandemia causada pela COVID-19 ou no formato remoto como adaptação das atividades durante o período pandêmico. A metodologia dos treinamentos foi composta por um formulário de pré e pós teste visando avaliar a eficácia das capacitações, somado a fundamentação teórica, simulações teórico-práticas e discussão de casos clínicos. Além disso, foram promovidas ações educativas destinadas à população geral. Resultados:As capacitações ministradas a profissionais e estudantes da área da saúde totalizaram 1212 participantes. Os eventos direcionados ao meio externo, como transmissões ao vivo e conteúdos audiovisuais em redes sociais, atingiram 12.931 pessoas. O fomento à produção científica envolveu a elaboração de 95 trabalhos aprovados em congressos regionais, nacionais e internacionais, bem como a organização de um congresso internacional nas áreas de Pediatria e Cardiologia, contabilizando 29.007 inscritos.Conclusões:Evidenciou-se a importância de intervenções para melhoria da linha de cuidado à criança cardiopata (AU).

Introduction:Neonatal pulse oximetry has been part of the National Newborn Screening Program in Brazil since 2014. However, there are few reports of its effective implementation in routine maternal and child care in the country. Objective: This study reports on the experience of providing health education to health professionals, students and the general population on topics related to neonatal pulse oximetry.Methodology: This is a descriptive study, experience report type, carried out between July 2019 and July 2021,before and during the Covid-19 pandemic, by students linked to the extension project of a reference university service in Rio Grande do Norte. The target audience of the training were students and professionals from the Medicine, Nursing and Nursing Technician course in the municipalities of Natal, Macaíba, Santa Cruz, Currais Novos, Mossoró and Caicó, in the state of Rio Grande do Norte. Training was carried out in person before the COVID-19 pandemic or remotely as an adaptation of activities during the pandemic period. The training methodology consisted of a pre-and post-test form aimed at evaluating the effectiveness of the training, in addition to theoretical foundations, theoretical-practical simulations and discussion of clinical cases. In addition, educational activities were promoted for the general population.Results:Training given to health professionals and students totaled 1212 participants. Events directed to the external environment, such as live broadcasts and audiovisual content on socialnetworks, reached 12,931 people. Promotion of scientific production involved the preparation of 95 papers approved in regional, national, and international congresses, as well as the organization of an international congress in the areas of Pediatrics andCardiology, with 29,007 registered participants. Conclusions: The importance of interventions to improve the line of care for children with heart disease was evidenced (AU).

Introducción: La oximetría de pulso neonatal forma parte del Programa Nacional de Tamizaje Neonatal en Brasil desde 2014. Sin embargo, existen pocos registros de su implementación efectiva en la atención materno-infantil de rutina en el país. Objetivo: El objetivo de este trabajo fue relatar la experiencia en acciones de educación en salud para profesionales y estudiantes del área de la salud y la población en general, sobre temas relacionados con El Test del Corazoncito. Metodología:Se trata de un estudiodescriptivo, del tipo relato de experiencia, realizado entre julio de 2019 y julio de 2021, antes y durante la pandemia de la Covid-19, por estudiantes vinculados al proyecto de extensión de un servicio universitario de referencia en Rio Grande Norte. El público objetivo de la capacitación fueron estudiantes y profesionales de la carrera de Medicina, Enfermería y Técnico en Enfermería de los municipios de Natal, Macaíba, Santa Cruz, Currais Novos, Mossoró y Caicó, en el estado de Rio Grande do Norte. La formación se realizó en formato presencial antes de la pandemia causada por el COVID-19 o a distancia como adaptación de las actividades durante el periodo de pandemia. La metodología de capacitación consistió en un formulario de pre y post test dirigido a evaluar la efectividad de la capacitación, además de fundamentos teóricos, simulacros teórico-prácticos y discusión de casos clínicos. Además, se promovieron actividades educativas para la población en general. Resultados:La formación impartida a profesionales y estudiantes de la salud totalizó 1212 participantes. Los eventos dirigidos al entorno externo, como retransmisiones en directo y contenidos audiovisuales en redes sociales, llegaron a 12.931 personas. El fomento de la producción científica implicó la elaboración de 95 trabajos aprobados en congresos regionales, nacionales e internacionales, así como la organización de un congreso internacional en las áreas de Pediatría y Cardiología, con 29.007 inscritos. Conclusiones:Se destacó la importancia de las intervenciones para mejorar la línea de atención a los niños con cardiopatías (AU).

Utilização do Potencial Auditivo de Estado Estável em lactentes com baixo risco para perda auditiva / Use of Auditory Steady State Response in infants at low risk for hearing loss / Uso del potencial auditivo de estado estacionario en bebés con bajo riesgo de pérdida auditiva

Introdução: Com base na necessidade do diagnóstico audiológico e da intervenção precoce na vida de uma criança com perda auditiva, faz-se necessário a elaboração de protocolos de avaliação auditiva que forneçam o maior número de informações. Objetivo: Analisar um programa de saúde auditiva infantil com relação à adesão à triagem auditiva e procedimentos de diagnóstico. Metodologia: Pesquisa de caráter transversal com análise quantitativa. Realizado em três etapas: 1ª etapa: triagem auditiva de neonatos de alojamento conjunto; 2ª etapa: reteste das falhas; 3ª etapa: diagnóstico audiológico dos lactentes que falharam nas etapas anteriores com a utilização do Potencial Evocado Auditivo de Estado Estável (PEAEE) em conjunto com o Potencial Evocado Auditivo de Tronco Encefálico (PEATE). Resultados: Em 2019, 1.898 neonatos foram triados e destes, 287 (15.2%) falharam na primeira testagem em pelo menos uma orelha. Um total de 197 (10.3%) foram retestados e 14 (0,73%) falharam em pelo menos uma orelha. Dez (0,52%) neonatos retornaram para diagnóstico compondo uma amostra homogênea de neonatos nascidos a termo. Um neonato apresentou perda auditiva unilateral. O tempo necessário para coleta de dados no PEAEE foi de 20 minutos. Conclusão: O PEAEE pode ser considerado uma alternativa a ser utilizado na bateria de testes na avaliação audiológica infantil, juntamente com outros procedimentos, utilizando-se do princípio de verificação cruzada e adicionando uma informação valiosa, especialmente com relação às baixas frequências. (AU)

Introduction: Based on the need for audiological diagnosis and intervention as soon as possible in the life of a child with hearing loss, it is necessary to elaborate of hearing evaluation protocols with high efficiency, which provide the greatest amount of information. Aim: To analyze a pediatric hearing health program regarding their adherence to hearing screening, failure rates, and diagnostic procedures. Method: This is a cross-sectional, descriptive, quantitative study, and consisted of tree stages: Performed in three steps: 1st step: hearing screening of rooming-in neonates; 2nd stage: retest of failures; 3rd stage: audiological diagnosis of infants who failed in the previous stages using the Steady State Response (ASSR) together with the Brainstem Evoked Response Audiometry (BERA). Results: In 2019, 1,898 infants were submitted to the program, of whom 287 (15.2%) failed the screening in at least one of the ears. A total of 197 (10.3%) infants attended the retest and 14 (0.73%) failed the TOAE in at least one of the ears. Ten (0.52%) infants returned for diagnosis. The sample was homogeneously full-term children. One child showed unilateral HL. The average amount of time required to collect information in the ASSR was 20 minutes. Conclusion: For diagnosis, ASSR can be an alternative to be used in the battery of examinations in pediatric hearing assessment along with the other procedures, using the cross-check principle and adding valuable information, especially regarding the low frequencies. (AU)

Introducción: En base a la necesidad de diagnóstico audiológico e intervención lo antes posibles en la vida de un niño con pérdida auditiva, es necesario elaborar protocolos de evaluación auditiva de alta eficiencia, que proporcionan la mayor cantidad de información. Objetivo: Analizar un programa de salud auditiva infantil en cuanto a la adherencia al tamizaje auditivo, tasa de fracaso y procedimientos diagnósticos. Metodología: Investigación transversal con análisis cuantitativo, Realizado en tres pasos: 1er paso: tamizaje auditivo de los neonatos en alojamiento conjunto; 2ª etapa: retest de fallas; 3ª etapa: diagnóstico audiológico de los lactantes que fracasaron en las etapas anteriores utilizando el Potencial Evocado Auditivo de Estado Estacionario junto con el Potencial Evocado Auditivo de Tallo Cerebral. Resultados: Em 2019, se cribaron 1,898 neonatos y de estos, 287 (15,2%) no pasaron la primera prueba en al menos un oído. Un total de 197 (10,3) fueron reevaluados y 14 (0,73%) fallaron en al menos un oído. Diez (0,52%) neonatos regresaron para diagnóstico, conformando una muestra homogénea de neonatos a término, con una edad gestacional media de 39 semanas y dos días. Un neonato tuvo pérdida auditiva unilateral. El tiempo de recogida de los resultados en el ASSR fue de 20 min. Conclusión: Para el diagnóstico, la ASSR puede considerarse una alternativa para ser utilizada en la batería de pruebas en la evaluación audiológica infantil, junto con otros procedimientos, utilizando el principio de verificación cruzada y agregando información valiosa, especialmente en lo que se refiere a las bajas frecuencia. (AU)

Epidemiological Profile of Neonates in Hearing Screening at a Maternity of a Tertiary Hospital in the state of Santa Catarina, Brazil

Abstract Introduction The newborn hearing screening (NHS) test aims the early diagnostic of hearing deficits that may also harm the full development of communication and learning of the affected child. Objective Trace the clinical and epidemiological profile of children born between July 2016 and July 2019; in addition to the outcome of the NHSs and factors related to failure in the hearing tests at a maternity of a tertiary hospital in Santa Catarina, Brazil. Methods The present is a cross-sectional study. A census of those born in the period defined for study was performed and a script was developed for the review of medical records, based on the literature. Results The sample can be considered homogeneous in relation to gender and age. The pregnant women had an average of 30.9 years. There were 30 neonates (1.9%) that did not undergo NHS. New evaluations were required in 288 patients (18.2%). Finally, 24 (1.5% of the population) remained with insufficient results in the retest. The following variables achieved statistical relevance with higher failure rates in tests and/or retests: natural delivery (p = 0.007), arterial hypertension present (p = 0.002), use of hydralazine (p = 0.038), and use of dipyrone in the test (p = 0.041) and retest (p = 0.003). Younger mothers had higher levels of normality in the test (p = 0.003) and retest (p = 0.161). The correlations between the other variables and the outcomes were not statistically significant. Conclusion False positives (62.8%) in the first test showed a value higher than the ideal goal; those who did not undergo the NHS (1.9%) and who needed evaluation by a specialist, due to failure in the retest (1.5%), are within the quality goals defined by the Joint Committee on Infant Hearing (JCIH) in 2007.

Access to pediatric hearing healthcare in Rio Grande do Norte, Brazil / Acesso ao serviço de saúde auditiva infantil no Rio Grande do Norte, Brasil

INTRODUCTION: Hearing impairment compromises the child's language development and learning process. Neonatal screening, diagnosis, and hearing intervention are actions that must be carried out for comprehensive hearing healthcare in childhood. OBJECTIVE: To assess access to children's hearing healthcare services and the factors that influence access. METHODS: Cross-sectional study with 104 children who underwent neonatal hearing screening and were referred for diagnosis. The sources were the databases, where demographic, social, and variables related to the access and use of health services were collected. Percentage distribution of categorical variables and measures of central tendency and dispersion of continuous variables were performed. To assess the association of dependent and independent variables, the Chi-square test was used with a 5% significance level. RESULTS: Only 56 (53.3%) of screened children attended hearing healthcare services. Of these, 41 went to the studied service, and 24 completed the diagnosis. Three children had hearing loss and were candidates for cochlear implants. The mean age at diagnosis was 211 days and the standard deviation was 155.9 days. The duration of diagnosis was 135 days and the standard deviation was 143.2 days. There was no statistical significance between access to health services and the distance of the service, age, and education of the mother. CONCLUSION: There is a lack of access to the service and completion of the diagnosis and children are not assisted at appropriate ages. The mother's age and education and distance to the service did not influence access to and use of the service.

INTRODUÇÃO: A deficiência auditiva compromete o desenvolvimento da linguagem e o processo de aprendizagem na criança. A triagem neonatal, o diagnóstico e a intervenção auditiva são ações que devem ser realizadas para a atenção integral à saúde auditiva na infância. OBJETIVO: Avaliar o acesso aos serviços de saúde auditiva infantil e os fatores que influenciam no acesso. MÉTODOS: Estudo transversal com 104 crianças que realizaram a triagem auditiva neonatal e foram encaminhadas para diagnóstico. As fontes foram os bancos de dados, onde foram coletadas variáveis demográficas, sociais e relacionadas ao acesso e uso dos serviços de saúde. Foram realizadas a distribuição percentual das variáveis categóricas e medidas de tendência central e dispersão das variáveis contínuas. Para avaliar a associação das variáveis dependentes e independentes foi utilizado o teste Qui-quadrado com nível de 5% de significância. RESULTADOS: Apenas 56 (53,3%) crianças compareceram, dessas 41 foram para o serviço estudado, 24 concluíram o diagnóstico e 3 apresentaram deficiência auditiva. A média de idade no diagnóstico foi de 211 dias, com desvio padrão de 155,9 dias e a duração do diagnóstico foi de 135 dias, com desvio padrão de 143,2 dias. Não houve significância estatística entre o acesso ao serviço de saúde e a distância, idade e escolaridade da mãe. CONCLUSÃO: Existe uma evasão no acesso ao serviço e na conclusão do diagnóstico e as crianças não são assistidas em idades oportunas. A idade e escolaridade da mãe e a distância não influenciaram no acesso e uso ao serviço.

Análise de custo-efetividade do teste de oximetria de pulso na triagem de cardiopatias congênitas / Cost-effectiveness analysis of the pulse oximetry test in screening for congenital heart diseases

Resumo: Introdução: Trata-se de uma tese desenvolvida na Pós-graduação em Enfermagem, na Linha de Pesquisa de Políticas e Práticas de Saúde, Educação e Enfermagem, de maneira a agregar valor à atividade de monitoramento de recém-nascidos, abrangendo a esfera mundial. Seu caráter inovador e sua relevância são fortes, considerando haver cenários de não realização da Triagem de Oximetria de Pulso (TOP) ou de desenvolvimento de técnica incorreta, de maneira que poderá favorecer a ampliação de sua aplicabilidade. Aponta-se que as Cardiopatias Congênitas (CC) são as anomalias de maior incidência nos recém-nascidos, com impacto na Mortalidade Infantil. Seu diagnóstico precoce está relacionado aos melhores desfechos e à sustentabilidade do sistema de saúde. O TOP comprova a importância do impacto social do diagnóstico para a real prevenção dos desfechos mórbidos, das mortes, e dos custos em saúde. Objetivos: Determinar a acurácia do TOP para triagem de CC nas primeiras 48 horas de vida, conforme especificidade e sensibilidade; e, desenvolver análise de custo-efetividade do TOP para triagem de CC. Método: Realizada revisão sistemática de acurácia de teste diagnóstico conforme as recomendações do Jonna Briggs Institute. O protocolo está registrado na plataforma PROSPERO - CRD42021256286 - e, publicado em periódico. Foram selecionados estudos com recém-nascidos sem o diagnóstico prévio de CC, independentemente da idade gestacional ao nascimento, que realizaram o TOP entre as primeiras 48h após o nascimento, em comparação ao exame físico realizado por profissional da saúde, ou estudos que não apresentaram comparadores e sim o diagnóstico de interesse, as CC. Para a seleção dos estudos utilizaram-se bases de dados e a literatura cinzenta. A Análise de Custo-Efetividade foi realizada conforme diretriz do Ministério da Saúde e, sob a perspectiva do SUS - Sistema Único de Saúde. Os dados de custo aplicados foram os disponibilizados em bases de dados nacionais. O modelo foi de Árvore de Decisão, com horizonte temporal de um ano, considerando quatro intervenções: 1) sem o TOP; 2) TOP sem reteste; 3) TOP com 1 reteste e 4) TOP com 2 reteste. Resultados: Na Revisão Sistemática foram incluídos 29 estudos, obtendo-se população total de 388.491 recém-nascidos. O TOP demonstrou sensibilidade de 47% (IC 95%: 43% a 50%) e, especificidade de 98% (IC 95%: 98% a 98%). Em estudos que apresentavam retestes e que incluíram recém-nascidos prematuros foram realizadas análises dos subgrupos, conforme o tempo de nascimento para realização do teste entre 24-48h. Na análise de custo-efetividade evidenciou-se que não realizar o TOP culminou com a estratégia de custo mais elevado, de R$ 85,41 por paciente. Os recém-nascidos triados com TOP + dois retestes possuem uma redução de custo entre R$ 0,21 a R$ 38,78 por paciente, conforme o protocolo aplicado. Conclusão: Para o diagnóstico precoce de CC, o TOP se configura como um teste de moderada sensibilidade, alta especificidade e custo-efetivo. Apresenta relação com o diagnóstico precoce, e contribui com a referência oportuna para atenção em serviço de saúde especializado e de qualidade, desde que na esfera de gestão estejam estabelecidos os acessos. Esta pesquisa é replicável considerando o rigor metodológico, assim como seu desenvolvimento e apresentação.

Abstract: Introduction: This is a thesis developed in the Graduate Program in Nursing, in the Research Line of Health, Education and Nursing Policies and Practices, in order to add value to the activity of monitoring newborns, covering the sphere worldwide. Its innovative character is high, as well as its relevance, considering that there are scenarios of non-performance of Pulse Oximetry Screening (POS), or of development of an incorrect technique, thus favoring the expansion of its applicability. It is pointed out that Congenital Heart Defects (CHD) are the anomalies with the highest incidence in newborns, with an impact on Infant Mortality. Its early diagnosis is related to better outcomes and sustainability of the health system. The POS proves the importance of the social impact of the diagnosis, for the real prevention of morbid outcomes, deaths, and health costs. Objectives: To determine the accuracy of the POS for CHD screening in the first 48 hours of life, according to specificity and sensitivity; and, develop a costeffectiveness analysis of the POS for CHD screening. Method: A systematic review of diagnostic test accuracy was carried out according to the Jonna Briggs Institute recommendations. The protocol is registered on the PROSPERO platform - CRD42021256286 - and published in a journal. Selected studies with newborns without a previous diagnosis of CHD, regardless of gestational age at birth, that performed the POS within the first 48 hours after birth, compared to the physical examination performed by a health professional or studies that did not present comparators, and the diagnosis of interest was CHD. For the selection of studies, databases and gray literature were used. The Cost-Effectiveness Analysis was carried out according to the guidelines of the Ministry of Health and from the perspective of the UHS - Unified Health System. The cost data applied were those available in national databases. The model was a Decision Tree, with a time horizon of one year, considering four interventions: 1) without the POS; 2) POS without retest; 3) POS with 1 retest and 4) POS with 2 retests. Results: The Systematic Review included 29 studies, resulting in a total population of 388,491 newborns. The POS showed a sensitivity of 47% (CI 95%: 43% to 50%) and specificity of 98% (CI 95%: 98% to 98%). In studies that presented retests and that included premature newborns, subgroup analyzes were performed, according to the time of birth for the test to be performed between 24-48 hours. In the cost-effectiveness analysis, it was shown that not performing the POS resulted in the highest cost strategy, R$ 85.41 per patient. Newborns screened with TOP + two retests have a cost reduction of between R$ 0.21 and R$ 38.78 per patient, depending on the protocol applied. Conclusion: For the early diagnosis of CHD, the POS is configured as a test of moderate sensitivity, high specificity and cost-effective. It is related to early diagnosis, and contributes to the timely referral for care in specialized and quality health services, as long as the accesses are established in the management sphere. This research is replicable considering the clarity of its development and presentation.

Quality assessment of screening for neonatal inherited metabolic disease in Chaoyang District from 2012 to 2021 / 预防医学

Objective @#To evaluate the quality of neonatal inherited metabolic diseases screening in Chaoyang District, Beijing Municipality from 2012 to 2021, so as to provide insights into improvements in the screening quality and efficiency of neonatal inherited metabolic diseases. @*Methods@#Data pertaining to screening of neonatal inherited metabolic disease in Chaoyang District from 2012 to 2021 were captured from Beijing Center for Neonatal Disease Screening. The percentage of screening, eligible rate of blood smears collection, re-examination rate of suspected cases, and definitive diagnosis of congenital hypothyroidism (CH), phenylketonuria (PKU) and congenital adrenal hyperplasia (CAH) were analyzed to evaluate the quality of neonatal inherited metabolic diseases screening in Chaoyang District.@*Results@#There were 484 002 live neonates in Chaoyang District from 2012 to 2021, and 481 395 neonates were screened for inherited metabolic diseases, with a screening rate of 99.46% and 99.71% eligible rate of blood smears collection. A total of 4 305 suspected positive cases were screened, including 4 148 cases recalled for re-examinations, with a 96.35% re-examination rate of suspected cases, and the re-examination rates of CH, PKU and CAH were 96.37%, 96.79% and 95.65%, respectively. Totally 482 neonates were definitively diagnosed with inherited metabolic diseases, with an overall incidence rate of 1/999, and the incidence rates of CH (307 cases), hyperthyrotropinemia (103 cases), PKU (66 cases) and CAH (6 cases) were 1/1 568, 1/4 674, 1/7 294 and 1/20 233, respectively.@*Conclusions@#The screening rate and re-examination rate of neonatal inherited metabolic diseases was both more than 95% in Chaoyang District from 2012 to 2021. Improving the management of neonatal inherited metabolic diseases screening and the recall of suspected cases is required.

Patient care in cystic fibrosis centers: a real-world analysis in Brazil / Assistência ao paciente em centros de fibrose cística: análise do mundo real no Brasil

ABSTRACT Objective: To analyze the characteristics of cystic fibrosis (CF) care centers (CFCCs) in Brazil. Methods: A questionnaire was sent to the coordinators of all 51 registered CFCCs between May and September of 2021. Results: The response rate was 100%. Southeastern Brazil is the region where most of the CFCCs in the country are located (21 centers; 41%), followed by the southern and northeastern regions (11 centers each; 21.5%), the central-western region (6; 12%), and the northern region (2; 4%). A total of 4,371 patients with CF were cared for in Brazil during the study period, ranging from 7 to 240 patients per center (mean, 86 patients/center; median, 75 patients/center); 2,197 patients (50%) were cared for in centers in the southeastern region of the country, particularly in the state of São Paulo (33%), the remaining patients being treated in southern Brazil (1,014 patients, 23%), northeastern Brazil (665 patients, 15%), central-western Brazil (354 patients, 8%), and northern Brazil (141 patients, 4%). Overall, 47 centers (92%) reported having an incomplete multidisciplinary team; 4 (8%) lacked essential team members; 6 (12%) lacked a physical therapist; 5 (10%) lacked a dietitian; 17 (33%) lacked outpatient nursing care; 13 (25%) lacked outpatient social work services; 14 (27%) lacked a psychologist; and 32 (63%) lacked a clinical pharmacist. Seven CFCCs (14%) in the northern and northeastern regions of Brazil reported that the quality of newborn screening for CF was poor. All centers reported having difficulties in accessing CF medications. Conclusions: Brazilian CFCCs experience multiple problems, including inadequate staffing, infrastructure, testing, and medication supply. There is an urgent need to regulate the implementation of CF referral centers and an appropriate network structure for the diagnosis and follow-up of CF patients using optimal treatment recommendations.

RESUMO Objetivo: Analisar as características dos centros de tratamento de fibrose cística (CTFC) no Brasil. Métodos: Entre maio e setembro de 2021, um questionário foi enviado aos coordenadores de todos os 51 CTFC registrados. Resultados: A taxa de resposta foi de 100%. O Sudeste do Brasil é a região onde está a maioria dos CTFC do país (21 centros; 41%), seguida pelas regiões Sul e Nordeste (11 centros cada; 21,5%), Centro-Oeste (6; 12%) e Norte (2; 4%). No total, 4.371 pacientes com fibrose cística (FC) foram atendidos no Brasil durante o período do estudo, variando de 7 a 240 pacientes por centro (média de 86 pacientes/centro; mediana de 75 pacientes/centro); 2.197 pacientes (50%) foram atendidos em centros da região Sudeste, particularmente no estado de São Paulo (33%), e os demais receberam atendimento nas regiões Sul (1.014 pacientes, 23%), Nordeste (665 pacientes, 15%), Centro-Oeste (354 pacientes, 8%) e Norte (141 pacientes, 4%). Do total de CTFC, 47 (92%) relataram que a equipe multidisciplinar estava incompleta; em 4 centros (8%), as equipes multidisciplinares careciam de membros essenciais; 6 centros (12%) careciam de fisioterapeuta; 5 (10%) careciam de dietista; 17 (33%) careciam de cuidados ambulatoriais de enfermagem; 13 (25%) careciam de serviços ambulatoriais de assistência social; 14 (27%) careciam de psicólogo e 32 (63%) careciam de farmacêutico clínico. Sete CTFC (14%) nas regiões Norte e Nordeste relataram que a qualidade da triagem neonatal de FC era ruim. Todos os centros relataram dificuldades de acesso a medicamentos para FC. Conclusões: Os CTFC brasileiros enfrentam múltiplos problemas: pessoal inadequado, infraestrutura inadequada, testes inadequados e fornecimento inadequado de medicamentos. Há uma necessidade urgente de regulamentar a implantação de centros de referência em FC e de uma rede adequada para o diagnóstico e acompanhamento de pacientes com FC com base nas recomendações para o tratamento ideal da doença.

Epidemiological profile of congenital hypothyroidism at a southern Brazilian state

ABSTRACT Objective: To determine the incidence of congenital hypothyroidism (CH) over a 10-year period at the Reference Service in Neonatal Screening of the state of Rio Grande do Sul (RSNS-RS). Subjects and methods: Historical cohort study including all newborns screened for CH by the RSNS-RS from January 2008 until December 2017. Data of all newborns with neonatal TSH (neoTSH; heel prick test) values ≥ 9 mIU/L were collected. According to neoTSH values, the newborns were allocated into two groups: Group 1 (G1), comprising newborns with neoTSH ≥ 9 mIU/L and serum TSH (sTSH) < 10 mIU/L, and Group 2 (G2), comprising those with neoTSH ≥ 9 mIU/L and sTSH ≥ 10 mIU/L. Results: Of 1,043,565 newborns screened, 829 (0.08%) had neoTSH values ≥ 9 mIU/L. Of these, 284 (39.3%) had sTSH values < 10 mIU/L and were allocated to the G1 group, while 439 (60.7%) had sTSH ≥ 10 mIU/L and were allocated to the G2 group, and 106 (12.7%) were considered missing data. The overall incidence of CH was 42.1 per 100,000 newborns screened (95% confidence interval [CI] 38.5-45.7/100,000) or 1:2377 screened newborns. The sensibility and specificity of neoTSH ≥ 9 mIU/L were 97% and 11%; of neoTSH 12.6 mUI/L, 73% and 85% respectively. Conclusion: In this population, the incidence of permanent and transitory CH was 1:2377 screened newborns. The neoTSH cutoff value adopted during the study period showed excellent sensibility, which matters for a screening test.

Predictive factors for the diagnosis of permanent congenital hypothyroidism and its temporal changes in Sergipe, Brazil - A real-life retrospective study

ABSTRACT Objectives: Congenital hypothyroidism (CH) can be permanent (PCH) or transient (TCH). While the importance of thyroxine in myelination of the brain is undisputed, the benefits to neurodevelopmental outcomes of TCH treatment are controversial. Our objectives were to determine predictive factors for PCH and verify its prevalence changes over time. Subjects and methods: A total of 165 children were evaluated at 3 years of age to verify the diagnosis of PCH. 130 were submitted to a two-step cluster analysis, with the aim of grouping them into homogeneous clusters. The mean incidence of PCH and TCH was calculated from 2004 to 2010 and 2011 to 2015. Results: Sixty-six children were diagnosed with PCH, and 99 were diagnosed with TCH. Eighty-one percent of PCH children and all TCH children with thyroid imaging had glands in situ. Eighty children (61.5%) were in Cluster 1, 8 children (6.2%) were in Cluster 2 and 42 children (32.3%) were in Cluster 3. No children had PCH in Cluster 1, while 87.5% of children in Cluster 2 and all children in Cluster 3 had PCH. The most important predictor for PCH was the initial serum TSH, which was marginally higher in importance than the blood spot TSH, followed by the initial serum free T4. The mean incidence of PCH (odds ratio: 1.95, 95% CI 1.36 to 2.95, p < 0.0001) and TCH (odds ratio 1.33, 95%, CI 1.02 to 1.77, p = 0,038) increased over time. Conclusions: The most important PCH predictors are the initial serum TSH and the blood spot TSH. The mean incidence of both PCH and TCH in our series increased.

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.

Avaliação transversal dos indicadores de saúde do programa nacional de triagem neonatal de um município do Vale do Paranhana / Cross-sectional evaluation of health indicators of the national neonatal screening program in a city of Vale do Paranhana

Objetivo: avaliar indicadores do programa nacional de triagem neonatal (PNTN) e de saúde no município de Rolante, RS, Brasil. Método: estudo transversal, por meio dos prontuários eletrônicos cadastrados entre janeiro de 2017 e julho de 2020. Foi realizado o cálculo dos indicadores do PNTN dos anos de 2017 a 2019, e análise de outras variáveis de saúde como: período e local da coleta, peso e idade de nascimento, idade materna, realização de pré-natal, realização da consulta, resultado do exame e recoleta. Resultado: a cobertura variou entre 201 de 256 (78,5%) e 229 de 272 (84,2%). Das 734 coletas 544 (74,1%) foram realizadas no período de três a cinco dias de vida, preconizado pelo Ministério da Saúde. A mediana da idade do RN na primeira consulta foi superior a 15 dias em todas as doenças triadas, exceto fenilcetonúria e deficiência de biotinidase, no período avaliado. Conclusão: a partir dos resultados foi possível observar que a cobertura do município correspondeu aos dados nacionais e estaduais no período. E, ainda que o percentual de coletas realizadas na data ideal tenha sido alto, a idade preconizada na primeira consulta não foi cumprida na maior parte das patologias

Objective: to evaluate neonatal screening national program (PNTN) and health indicators in the Rolante city, RS, Brazil.Method: cross-sectional study, using electronic medical records registered between January 2017 and July 2020. The calculation of the PNTN indicators from 2017 to 2019 was carried out. And analysis of other health variables such as: period and place of collection, weight and age at birth, maternal age, prenatal care, consultation, test results and collection. Result: coverage ranged from 201 out of 256 (78.5%) to 229 out of 272 (84.2%). Of the 734 collections, 544 (74.1%) were performed within the period of 3 to 5 days of life, recommended by the Ministry of Health. The median age of the NB at the first consultation was greater than 15 days in all screened diseases, except for phenylketonuria and biotinidase deficiency, in the period evaluated.Conclusion: from the results it was possible to observe that the coverage of the municipality corresponded to the national and state data in the period. And even though the percentage of collections carried out on the ideal date was high, the recommended age at the first consultation was not met in most pathologies

Cognitive outcome of 458 children over 25 years of neonatal screening for congenital hypothyroidism

Abstract Objectives: To describe the neurocognitive profile of 458 children with congenital hypothyroidism detected by neonatal screening, followed under the same treatment protocol over 25 years. To correlate estimated full-scale IQ (FSIQ) scores with age at the start of treatment, disease severity, and maternal education. Methods: Observational, analytical, retrospective, and longitudinal cohort study, that evaluated children detected between 1991 and 2014, who underwent at least one psychometric assessment (WPPSI- R and/or WISC-III). Estimated FSIQ scores are described and correlated with prognosis determinants. Results: Median T4 at diagnosis was 2.8 µg/dL (0.0-16.5), the median age at the start of treatment was 18.5 days (3-309). Maternal education (n = 445): 2.7% of illiteracy, 59.8% with basic education. Estimated FSIQ scores were 88.0 (±11.8) in WPPSI-R (age 5.6 ± 0.5 years) and 84.1 (±13.0) in WISC-III (age 9.1 ± 1.4 years). The intellectual deficit was identified in 11.6%. Correlation between age at the start of treatment and estimated FSIQ was found only in the WPPSI-R test (p = 0.02). Initial T4 and maternal education significantly correlated with estimated FSIQ scores in both tests, with the latter being the most important determining factor. Conclusions: In this large cohort of mainly low socioeconomic status children, most children achieved normal cognitive levels; however, a significant percentage presented with below-average estimated FSIQ scores and intellectual deficits. Maternal education was the main determining factor in cognitive level followed by hypothyroidism severity.

Conhecimento dos profissionais da Estratégia Saúde da Família sobre a triagem neonatal biológica / Knowledge of Family Health Strategy professionals about biological neonatal screening

A triagem neonatal biológica, popularmente conhecida como "teste do pezinho", é um teste preventivo capaz de identificar seis doenças em neonatos, sendo elas a Fenilcetonúria, o Hipotireoidismo Congênito, a Doença Falciforme e outras hemoglobinopatias, Fibrose Cística, Hiperplasia Adrenal Congênita e a Deficiência de Biotinidase. Este estudo objetivou avaliar o conhecimento dos profissionais da Estratégia Saúde da Família sobre a triagem neonatal biológica. Foi realizado um estudo descritivo, exploratório e de caráter quantitativo, desenvolvido com profissionais da equipe de Estratégia Saúde da Família nas Unidades Básicas de Saúde de um município no noroeste do estado do Paraná. Os dados foram coletados por meio de formulário na plataforma Google Forms e em material impresso, analisados descritivamente por meio de frequências absolutas e relativas. Evidenciaram-se que dos 69 profissionais pesquisados, 39 não sabem elencar quais doenças o teste identifica (56,5%), 28(40,6%) indicaram o período ideal como sendo entre o 3º e 5º dia de vida; e 20(29%), indicaram o período antes de 48 horas de vida, 46(66,7%) não se sente capacitado para orientar os pais sobre o teste. Após o nascimento da criança, 34(49,3%) não verificam se foi realizado o teste. Concluiu-se, portanto, que o conhecimento e atitude dos profissionais das Equipes de Estratégia Saúde da Família em relação à triagem neonatal biológica é insuficiente, e mostra a importância da educação permanente, que os profissionais ampliem seus conhecimentos e sintam-se seguros para orientar em relação ao teste do pezinho efetivamente.

Biological neonatal screening, popularly known as "heel prick test", is a preventive test capable of identifying six diseases in newborns, namely: Phenylketonuria, Congenital Hypothyroidism, Sickle Cell Disease and other haemoglobinopathies, Cystic Fibrosis, Congenital Adrenal Hyperplasia and Biotinidase deficiency. This study aimed to evaluate the knowledge of Family Health Strategy professionals about biological neonatal screening. A descriptive, exploratory and quantitative study was carried out, developed with professionals from the Family Health Strategy team in the Basic Health Units of a municipality in the northwest of the state of Paraná. Data was collected through a form on the Google Forms platform and in printed material, analyzed descriptively using absolute and relative frequencies. It was evidenced that of the 69 professionals surveyed, 39 do not know how to list which diseases the test identifies (56.5%), 28(40.6%) indicated the ideal period as being between the 3rd and 5th day of life; and 20(29%) indicated the period before 48 hours of life, 46 (66.7%) do not feel capable of guiding parents about the test. After the birth of the child, 34(49.3%) professionals did not verify whether the test was performed. It was concluded, therefore, that the knowledge and attitude of professionals from the Family Health Strategy Teams in relation to biological neonatal screening is insufficient, and shows the importance of continuing education, that professionals expand their knowledge and feel safe to guide in relation to the heel prick test effectively.