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Abstract: The Brazilian Unified National Health System (SUS) has incorporated newborn screening for cystic fibrosis since 2001. The protocol involves two samples of immunoreactive trypsinogen (IRT1/IRT2). This study aims to analyze fixed and floating values at the first and second IRT (IRT1/IRT2) cutoff points and assess the accuracy of the IRT/IRT methodology in a population from Northeastern Brazil. Descriptive, individual-level data from the newborn screening reference service data system (2013-2017) were used in this observational population study. The sensitivity, specificity, and positive predictive values (PPV) for the protocol were calculated. The best cutoff point was determined using the Youden’s index. The previous year’s cut-off values for the IRT1 and IRT2 99.4-, 99.5-, 99.6-, and 99.7-percentiles were utilized for the floating cutoff. During the studied period, 840,832 newborns underwent screening for cystic fibrosis, obtaining 49 cystic fibrosis diagnoses: 39 by newborn screening (79.6%) and 10 (20.4%) by clinical suspicion (false negative). The sensitivity, specificity, and PPV of the protocol totaled 79.6%, 99.9%, and 6.1%, respectively. No proposed cutoff for IRT1 performed better than the current one. IRT2 performed similarly to the current protocol at a cutoff point of 90ng/mL, showing the appropriate sensitivity and specificity while reducing the frequency of false positives. The protocol to screen newborns for cystic fibrosis had low sensitivity, a predictive positive value, and a high number of false positives and negatives. A floating cut point for IRT1 or IRT2 seems to constitute no viable option. However, changing the IRT2 cut point from 70ng/mL to 90ng/mL seems to have advantages and should undergo consideration.

Resumen: Introducción: La sepsis neonatal de inicio precoz puede causar morbimortalidad importante, sobre todo si se retrasa su identificación. La disminución de su incidencia en las últimas décadas motiva que sea importante encontrar un equilibrio entre reducir las pruebas complementarias y seguir detectando los pacientes afectos. Comparamos 3 estrategias de detección en pacientes con factores de riesgo: E1. Cribado analítico; E2. Calculadora de riesgo de sepsis neonatal; E3. Observación clínica. Pacientes y métodos: Estudio observacional retrospectivo, en recién nacidos con edad gestacional ≥34 semanas y con factores de riesgo o sintomatología compatible con sepsis neonatal de inicio precoz. Se analizaron los resultados de nuestra unidad con cribado analítico (E1) y se comparó con las otras 2 estrategias (E2 y E3) para valorar modificar nuestro protocolo. Resultados: Se incluyeron 754 pacientes cuyos factores de riesgo más frecuentes fueron la rotura prologada de membranas (35,5%) y la colonización materna por Streptococcus agalactiae (38,5%).Las E2 y E3 disminuirían la realización de analíticas (E1 56,8% de los pacientes; E2 9,9%; E3 22,4%; p

Objective: The present study evaluated the acceptance among parents of newborns to the creatine kinase (CK) test in the neonatal screening of Duchenne Muscular Dystrophy-DMD and raised possible barriers and elements that facilitate the acceptance of the test. Methods: The assessment of acceptance of the CK test for DMD screening was carried out through interviews, guided by a semi-structured script, with parents of newborns in the state of Mato Grosso, Brazil. Results: Six hundred and four parents participated in the research, only five being excluded for not meeting the eligibility criteria. The acceptance of screening among respondents was high (94.5%), surpassing that described in the retrieved literature. Long journeys to the collection site and the absence of information about the disease and the CK test can negatively influence parents regarding the performance of the test. The reduction in diagnostic delay seems to be a positive factor in the acceptance of screening. Conclusions: Non-mandatory neonatal screening for DMD using the CK test demonstrated high acceptance by the interviewed population; however, research has identified factors that can both motivate and discourage screening.

Resumen: Introducción: La drepanocitosis es una anemia emergente en Europa que condiciona una elevada morbilidad con complicaciones agudas y crónicas. El manejo de estos pacientes es complejo y requiere atención interdisciplinar. El objetivo del estudio es analizar las características y el manejo de los pacientes con drepanocitosis que ingresan por complicaciones agudas. Métodos: Estudio descriptivo retrospectivo de los ingresos por complicaciones agudas de pacientes con drepanocitosis menores de 16 años en un hospital terciario entre 2010 y 2020. Se revisaron los datos clínicos, analíticos y radiológicos. Resultados: Se incluyeron 71 ingresos correspondientes a 25 pacientes, el 40% diagnosticados por cribado neonatal. Los ingresos se incrementaron de forma progresiva durante este periodo. Los diagnósticos más frecuentes fueron la crisis vasooclusiva (35,2%), el síndrome febril (33,8%) y el síndrome torácico agudo (32,3%). Nueve pacientes precisaron ingreso en cuidados intensivos. En 20 ingresos se obtuvo documentación microbiológica, 60% bacterias. En el 86% se administró antibioterapia y 28% precisaron analgesia con opioides. El 89% cumplían la pauta de vacunación adecuada y el 41% recibían hidroxiurea previo al ingreso. Conclusiones: Las complicaciones agudas que precisan ingreso hospitalario son frecuentes en los pacientes con drepanocitosis, siendo las más habituales la crisis vasooclusiva y el síndrome febril. Esto conlleva un uso elevado de antibioterapia y opioides. El diagnóstico precoz facilita el reconocimiento de complicaciones de riesgo vital como el síndrome torácico agudo y el secuestro esplénico. A pesar de las medidas preventivas y los tratamientos indicados en la actualidad, estas complicaciones agudas precisan manejo hospitalario. Abstract: Introduction: Sickle cell disease is an emerging anemia in Europe leading to high morbidity with severe acute complications requiring hospital admission and chronic consequences. The management of these patients is complex and needs interdisciplinary care. The objective is to analyze clinical characteristics and management of patients with sickle cell disease admitted for acute complications. Methods: Retrospective descriptive study of admissions for acute complications of patients with sickle cell disease under 16 years of age in a tertiary hospital between 2010 and 2020. Clinical, laboratory and radiological data were reviewed. Results: We included 71 admissions corresponding to 25 patients, 40% diagnosed by neonatal screening. Admissions increased during this period. The most frequent diagnoses were vaso-occlusive crisis (35.2%), febrile syndrome (33.8%) and acute chest syndrome (32.3%). Nine patients required critical care at PICU. Positive microbiological results were confirmed in 20 cases, bacterial in 60%. Antibiotic therapy was administered in 86% of cases and the vaccination schedule of asplenia was adequately fulfilled by 89%. Opioid analgesia was required in 28%. Chronic therapy with hydroxyurea prior to admission was used in 41%. Conclusions: Acute complications requiring hospital admission are frequent in patients with sickle cell disease, being vaso-occlusive crisis and febrile syndrome the most common. These patients need a high use of antibiotics and opioid analgesia. Prior diagnosis facilitates the recognition of life-threatening complications such as acute chest syndrome and splenic sequestration. Despite the prophylactic and therapeutic measures currently provided to these patients, many patients suffer acute complications that require hospital management.

Inborn errors of metabolism (IEM), also known as inherited metabolic disorders, are rare but associated with significant morbidity and mortality. The incidence is variable in all regions, worldwide it ranges from 1 in 569 to 2500 live births (LBI). The objective of this work was to carry out a narrative review to identify the guidelines that guide the detection of EIMs through official sources from various countries. A total of 13 documents were identified, including protocols, books, manuals, programs and 4 official websites for the detection of EIMs. In general, there is variability in the selection of EIMs that are detected, from 4 to 61 EIMs, primary congenital hypothyroidism and pheniceltonuria are the two EIMs that are included in most screening programs, spinal atrophy and severe combined immunodeficiency are detected less frequently, the incidence of each EIM is variable between countries and even between states of the same country, with congenital hypothyroidism being the most common. The guidelines for the selection of EIMs are determined by the internal policies of each country, the incidence and economic resources. There is no universal standard for the detection of EIMs, but they all pursue the same purpose: detection, diagnosis and timely treatment. In parallel, it allows us to estimate with greater precision the frequency of these disorders., (Licencia CC 4.0 (BY-NC-ND) © 2024 Revista Médica del Instituto Mexicano del Seguro Social.)

Introduction. Iodine plays a key role in human metabolism, growth, and development. During pregnancy and childhood, the demand for this micronutrient increases notably. Increased neonatal thyroid stimulating hormone (nTSH) levels, defined as nTSH ≥ 5 mIU/L, are a marker of iodine deficiency in a population if its prevalence is higher than 3%. Objective. To establish the prevalence of nTSH ≥ 5 in La Pampa in the 2021-2022 period, analyze its correlation with different variables, and compare it with data from a historical cohort. Population and methods. Cross-sectional, descriptive-analytical study in a population of newborn infants born in the 5 health regions of the province of La Pampa in 2021 and 2022. Results. Of the 5778 assessed newborn infants, 9.6% had nTSH levels ≥ 5 mIU/L. It was reported that 70.4% of these measurements were done after the third day of life. No significant differences were observed in the frequency of high nTSH levels by year of birth, birth weight, or days until sample collection. A higher prevalence was observed among male infants (10.6% versus 8.5%; p = 0.007) and term infants (9.8% versus 6.6%; p = 0.02). The prevalence of high TSH levels was superior to that observed in the 2001-2002 cohort. Conclusions. The prevalence of high nTSH levels in La Pampa during 2021 and 2022 was 9.6%, suggesting the presence of mild iodine deficiency in the population of this province, higher that what had been reported 2 decades ago., (Sociedad Argentina de Pediatría.)

This serological survey, conducted in five Brazilian municipalities, evaluated the use of dried blood spots (DBS), obtained from newborns and their mothers, to detect SARS-CoV-2 IgG antibodies. DBS were obtained from 4,803 neonates aged up to seven days and their mothers, both asymptomatic, at public health care clinics during newborn screening. DBS were processed by ELISA to detect IgG antibodies against SARS-CoV-2 nucleocapsid antigen. Mothers of seropositive neonates were interviewed about sociodemographic characteristics and clinical and laboratory antecedents. Non-satisfactory samples, dyads with incomplete data, and vaccinated mothers were excluded. Of the 1,917 DBS dyads samples analyzed, 14.7% of neonates showed IgG antibodies against SARS-CoV-2. Among seropositive neonates, 73.2% of their mothers were also seropositive. More than half of the mothers with seropositive neonates denied clinical or laboratory suspicion of COVID-19 during pregnancy. Suspicion occurred in the third trimester for 24.6% of the mothers. This study tested an innovative strategy to improve the understanding of COVID-19 antibody dynamics during pregnancy and suggests the feasibility of a universal serological survey in puerperal women and neonates.

Resumen: Introducción: El cribado neonatal de fibrosis quística (FQ) ha permitido el diagnóstico precoz de la enfermedad, siendo determinante en el aumento de supervivencia de estos pacientes. Su principal inconveniente es su baja especificidad y elevado número de falsos positivos. El objetivo fue analizar las diferencias de tripsina inmunorreactiva (TIR) entre los diferentes grupos de recién nacidos (RN) con cribado neonatal positivo según fueran sanos, portadores sanos, afectos de FQ o Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID). Material: Estudio retrospectivo analítico de las concentraciones de TIR en RN con cribado neonatal positivo para FQ nacidos en un hospital de tercer nivel durante 8 años. Resultados: Se analizaron 790 RN con cribado neonatal positivo para FQ, 86,3% a término, 53% niñas y 11,8% ingresados. El valor medio de TIR fue 79,16 ng/ml (rango 60-367). Se encontraron concentraciones significativamente más elevadas de TIR en afectos de FQ con respecto a los otros grupos (p

ABSTRACT Purpose: to assess the universal neonatal hearing screening program using quality indicators. Methods: the records of newborns who were submitted to the neonatal hearing screening in 2018 were analyzed, comparing the data with the first five quality indicators established by the national guideline for neonatal hearing screening attention: 1) rate of screening coverage (≥95%); 2) age at the screening in months (up to the first month of life); 3) rate of referrals for diagnosis (2% to 4%); 4) rate of attendance to diagnostic examination (≥90%); 5) age at confirmed diagnosis (up to the third month of life). The data were submitted to quantitative and descriptive statistical analysis. Results: the rate of coverage, age at screening, and the number of referrals for diagnosis met the indicators established by the national guideline. The rate of attendance to diagnostic examination fell short of the expected, and the age at confirmed diagnosis was verified in 70% of the cases. Conclusion: using the quality indicators furnished important data on the effectiveness of the neonatal hearing screening program and identified opportunities to improve the service, which can help identify hearing loss, early.

Resumen: El Programa de cribado o detección precoz del hipotiroidismo congénito es uno de los mayores avances logrados en Pediatría. Las hormonas tiroideas son imprescindibles para el desarrollo y la maduración cerebral, que continúan en la etapa neonatal. Las alteraciones de la función tiroidea en niños prematuros y con bajo peso en los primeros meses de vida origina lesiones irreversibles en el sistema nervioso central y es una de las causas más frecuentes y evitables de retraso mental. El diagnóstico en el periodo neonatal es difícil, por lo que requiere estudio analítico para poder efectuar el tratamiento adecuado.La relevancia de este problema justifica su difusión a todas las áreas de Pediatría. El objetivo principal, evitar el daño cerebral en estos pacientes. Otros aspectos para optimizar el desarrollo adecuado de estos niños con todos los controles periódicos necesarios y lograr la inclusión del diagnóstico de las alteraciones tiroideas durante la estancia en unidades neonatales y en los primeros meses de vida precisan implementar los recursos de los centros sanitarios y continuar avanzando según los conocimientos actuales.En el presente documento nos centraremos en el cribado de los recién nacidos pretérmino (< 32 semanas de gestación) o con muy bajo peso para la edad gestacional (1.500-1.000 g muy bajo peso al nacer, o

ABSTRACT Objective: to analyze the understanding of mothers about sickle cell disease and/or trait of the family from a diagnosed child. Methods: this is a qualitative study, using a semi-structured interview with 23 mothers, at a sickle cell disease outpatient clinic of a public institution, from October to December 2017. Analysis was thematic. Results: all participants had sickle cell trait as well as the parents of their children. Twenty children were diagnosed with sickle cell disease by Heel Prick Test, and three, after hospitalization due to the disease. Most did not know how to report the presence of the trait or disease in relatives other than nuclear. Final considerations: diagnosis cannot be restricted to the result of neonatal screening, requiring that preventive information on sickle cell crises be reinforced. It is recommended to search for other affected relatives to learn about their genetic condition, reflecting on their reproductive decisions.

Birth defects contribute up to 21% of the mortality in those under 5 years of age in Latin America and the Caribbean (LAC), and that burden has been compounded by the Zika virus epidemic. In 2001, the March of Dimes launched a series of biennial assemblies called the International Conference on Birth Defects and Disabilities in the Developing World (ICBD). The latest ICBD, in 2017, convened in Bogotá, Colombia, and was attended by over 300 professionals, policymakers, and donors. The conference attendees, a majority of whom were from LAC, supported a call to action in the form of a consensus statement. The consensus statement lists key actions for maximizing birth defects surveillance, prevention, and care in LAC: 1) improving surveillance; 2) reducing risks for birth defects; 3) fortifying staple foods; 4) preventing and treating infections associated with birth defects; 5) implementing newborn screening; 6) providing care and services for people with birth defects and disabilities; 7) involving governments, civil society, and international agencies; and 8) advancing research for birth defects. Implementation and scale-up of evidence-based interventions using multisectoral and multidisciplinary collaborative approaches were endorsed. LAC countries can leverage technology and social media to advance and advocate for approaches identified in the consensus statement. The consensus statement can be used as a guide by both governments and nongovernmental agencies to take immediate steps for improving the quality of life of those living with birth defects and associated disabilities in the LAC countries.

ABSTRACT Purpose: to describe the results of a neonatal hearing health program and verify whether there is an association between the presence of risk indicators for hearing loss and failure in the tests and diagnosis. Methods: a one-cohort, observational, retrospective study with secondary data contained in a spreadsheet concerning the family’s sociodemographic condition, clinical history, and examination results of 7,800 participants who were submitted to hearing screening between 2010 and 2016. Absolute frequency and percentages were used in the description of the first and second stages. In the association between risk indicators and failures in the otoacoustic emissions, the odds ratio, confidence interval, and significance level at 0.5% were used. Results: the risk indicators in 8 out of the 12 infants presented with hearing loss were ototoxic medication and intensive care unit (ICU) stay, whereas the likelihood of failure in the otoacoustic emissions occurred along with 11 indicators. The likelihood of a diagnosis of hearing loss was 13 times greater when there was a risk indicator, 18 times greater when an ototoxic medication had been used, and 16.62 times greater when they stayed in ICUs. Conclusion: the results show that knowing the indicators leads to considering the actions the team in charge should take.

ABSTRACT Objective: To develop and validate both the content and reliability of the Neonatal Nutritional Risk Screening Tool (FARNNeo). Methods: Methodological study, convergent care. The instrument was built prior to the literature review and was analyzed by eight judges, during three cycles of the Delphi technique. The judges assessed their relevance and clarity with responses on the Likert scale with three levels, in addition to suggestions. The validation of the instrument was calculated using the agreement rate and content validity index (CVI). After content validation, the instrument was applied by four assisting nutritionists to verify reliability, using Cronbach`s alpha coefficient and the agreement between the evaluators by the Kappa coefficient. Results: All items of the instrument`s content reached the minimum agreement rate (90%) and/or CVI (0.9), except for item three, which in the first cycle obtained CVI 0.77 and 40% of agreement and, in the second cycle, CVI 0.75 and 38% agreement. At the end of the third cycle, all items had CVI values above 0.9. In the instrument application, alpha of 0.96 and Kappa of 0.74 were obtained, which reflect adequate values of internal consistency and agreement between the evaluators. Conclusions: FARNNeo proved to be reliable, clear, relevant, and reproducible for tracking early nutritional risk, systematizing the care of Brazilian newborns admitted to an intensive care unit.

Introduction. The first neonatal screening program in Colombia – PREGEN – was set up in the medical private sector of Bogotá in 1988. We report the results from recent years that, given the scarcity of similar information in our country, may help estimate the frequency of the evaluated neonatal disorders and which ones should be included in the neonatal screening programs in our country. Objective. To describe the results of PREGEN´s newborn screening program between 2006 and 2019. Materials and methods. We analyzed databases and other informative documents preserved in PREGEN from the 2006-2019 period. Results. One in every 164 newborns screened in our program had an abnormal hemoglobin variant, and one in every 194 carried some hemoglobin S variant. Glucose-6- phosphate dehydrogenase deficiency and congenital hypothyroidism are next as the more common disorders. Conclusions. Abnormal hemoglobin causes the most frequent monogenic disorder in the world. Glucose-6-phosphate dehydrogenase deficiency is the most common enzymopathy affecting nearly 400 million individuals worldwide. Since both disorders are more common in people of African descent and confer some resistance to malaria, we believe that screening for both disorders may be more relevant in the areas with African ancestry in our country.

ABSTRACT Purpose: to validate an indicator matrix to assess the Neonatal Hearing Screening Program (NHSP). Methods: methodology development research. A total of 13 speech-language-hearing therapists with a specialization in audiology and/or at least three-year experience in neonatal hearing screening participated in the validation process. Quantitative and qualitative data were collected to develop the indicator matrix, which was then submitted to the validation process. The results of the specialists’ evaluation, in this stage, were quantitatively analyzed with the item content validation index (I-CVI) and scale content validation index (S-CVI). Results: regarding the indicators classified as quite or fully adequate, the mean I-CVI was the same as the mean S-CVI (0.95), evidencing excellence in their content validity. Concerning the scores classified as quite or fully adequate, the I-CVI mean was also identical to that of S-CVI (0.83), thus, reaching a consensus. Conclusion: this matrix with 33 indicators that had their content validated with consensus, will consistently contribute to assessing NHS services in Brazil.

The Hospital of the Ribeirão Preto Medical School, University of São Paulo is one of the three screening centers in São Paulo State, Brazil, and has included a test for cystic fibrosis (CF) since February 6, 2010, by a court order. We evaluated the first five years of this CF-newborn screening program. The original immunoreactive trypsinogen (IRT)/IRT screening protocol was adopted in Brazil. A total of 173,571 newborns were screened, 1,922 (1.1%) of whom showed IRT1 ≥ 70ng/mL. Of these, 1,795 (93.4%) collected IRT2, with elevated results (IRT2 ≥ 70ng/mL) in 102 of them (5.2%). We identified a total of 26 CF cases during this period, including three CF cases that were not detected by the CF-newborn screening. The incidence of the disease among the screened babies was 1:6,675 newborns screened. Median age at the initial evaluation was 42 days, comparable to that of neonates screened with the IRT/DNA protocol. Almost all infants with CF already exhibited some manifestations of the disease during the neonatal period. The mutation most frequently detected in the CF cases was F508del. These findings suggest the early age at the beginning of treatment at our center was due to the effort of the persons involved in the program regarding an effective active search. Considering the false negative results of CF-newborn screening and the early onset of clinical manifestations of the disease in this study, pediatricians should be aware of the diagnosis of CF even in children with negative test.

ABSTRACT Purpose: to develop and validate the logical model of the Neonatal Hearing Screening Program in the hearing health network. Methods: a methodological developmental research aimed to build the logical model of the Neonatal Hearing Screening Program and validate its content through a “consensus conference”. The research was carried out in three stages: 1) Literature review, analysis of the normative documents, and official recommendations regarding the Neonatal Hearing Screening; 2) Development of the logical model; 3) Validation of the logical model through rounds of consultation with specialists. Results: based on the documentary analysis, the logical model was designed in three dimensions: (1) Education in Hearing Health, (2) Neonatal Hearing Screening, and (3) Administration. It was validated based on the judgment of specialists in the field. After the validation process, three variables in the “process” and one in the “structure” aspects, were adjusted, whereas another two aspects in “process” were excluded. Conclusion: the logical model presented the dimensions, activities, and results of the Neonatal Hearing Screening Program in practical and clear terms. Hence, it is useful not only to communicate and announce its results, but also to offer support to future evaluative research in the field of neonatal hearing health.

ABSTRACT Purpose: to survey the national literature after the universal neonatal hearing screening became compulsory, addressing aspects related to its territorial distribution, the screening procedures employed, and verify whether the internationally proposed quality indicators have been achieved. Methods: an integrative review of articles indexed in the BIREME, PubMed, and Scopus databases. Inclusion criteria: Articles in Portuguese and English published after Law 12,303/2010 was passed, whose theme was the neonatal hearing screening in Brazil. Exclusion criteria: Information from books and/or chapters, integrative review articles or reflexive articles, studies conducted in other countries, and studies approaching a specific subpopulation. The search strategy combined the following descriptors in Portuguese and English, respectively: “Triagem Neonatal”, “Perda auditiva”, “Recém-nascido”, “Brasil”, “Neonatal Screenings”, “Hearing Loss”, “Newborn”, “Brazil”. Results: of the 224 articles found, 26 were duplicates, 38 were books or book chapters, three were integrative reviews, 20 were studies conducted in other countries, and 120 were either reflexive articles or studies approaching a specific subpopulation. The final sample comprised 17 articles that addressed the proposed theme. Conclusion: the South and Southeast Regions of Brazil concentrated most of the programs, and the main technique employed was the evoked otoacoustic emissions. Two quality indicators were achieved: performance rates within the first month of life, and diagnosis referral rates. However, the coverage rates remained below the expectation, and there were still high retest referral rates, high nonattendance rates in the subsequent stages, low satisfactory retest result rates, and a large number of “fail” in the two screening stages.

Abstract Objective: To verify factors associated with early newborn access to biological neonatal screening. Method: A cross-sectional quantitative study was carried out with all newborns who underwent tests in healthcare units, hospitals, and laboratories of a city in the state of São Paulo, Brazil, with programs linking healthcare information. The following variables were investigated: child’s age at collection (dependent); place of collection; date of collection; and type of user (independent). Descriptive and inferential statistics were applied. Results: Records of 15,652 screenings were found in the two years analyzed. In the first year analyzed, 7,955 births and 7,640 (96.0%) tests were recorded, of which 5,586 (73.1%) were undertaken with newborns between three and five days old. In the next year analyzed, 8,316 births and 8,012 (96.3%) screenings were recorded, of which 7,025 (87.6%) were undertaken with newborns in the same age group. A statistically significant association was found between the variables “child’s age” and “type of user” in one year, and between the variables “child’s age” and “place of collection” in both years. Conclusion: Early access to these tests enables the screening of diseases and referral for treatment. The present study contributes to the management of child care programs by presenting strategies linking data and actions to improve access to biological neonatal screening.

ABSTRACT Objective: To identify phenylalanine hydroxylase (PAH) mutations in patients with phenylketonuria (PKU) from the Newborn Screening Service in Mato Grosso, Midwest Brazil. Methods: This is a cross-sectional descriptive study. The sample consisted of 19 PKU patients diagnosed by newborn screening. Molecular analysis: DNA extraction using the “salting-out” method. Detection of IVS10nt-11G>A, V388M, R261Q, R261X, R252W, and R408W mutations by the restriction fragment length polymorphism (RFLP) technique. Results: Two mutant alleles were identified in four patients (21.1%), one allele in five patients (26.2%), and none in the remaining ten patients (52.6%). A total of 13/38 alleles were detected, corresponding to 34.2% of the PAH alleles present. The most prevalent variant was V388M (13.2% of the alleles), followed by R261Q (10.1%) and IVS10nt-11G>A (7.9%). Three variants (R261X, R252W, and R408W) were not found. The most frequent mutation types were: missense mutation in eight alleles (18.4%) and splicing in four alleles (10.5%). The model proposed by Guldberg to determine a genotype/phenotype correlation was applied to four classical PKU patients with two identified mutations. In three of them, the predicted moderate/moderate or moderate PKU phenotype did not coincide with the actual diagnosis. The prediction coincided with the diagnosis of one classic PKU patient. The estimated incidence of PKU for Mato Grosso, Brazil, was 1:33,342 live births from 2003 to 2015. Conclusion: The only mutations found in the analyzed samples were the IVS10nt-11G>A, V388M, and R261Q. The genotype/phenotype correlation only occurred in four (5.3%) patients.

Resumen: Introducción: La sepsis vertical precoz es una causa importante de morbimortalidad neonatal. La evidencia científica apunta a que la mayoría de los recién nacidos infectados presentan clínica en las primeras horas de vida. Tras la aplicación de las medidas para la prevención de sepsis vertical y el descenso en su incidencia, se han propuesto cambios en el manejo de estos niños. No obstante, la realización de exploraciones complementarias dolorosas aún sigue siendo una práctica muy extendida. Material y métodos: Estudio prospectivo realizado entre 2011 y 2015. Se incluyó a todos los recién nacidos con edad gestacional ≥ 35 semanas, asintomáticos al nacimiento que presentaban uno o más factores de riesgo infeccioso. Durante su estancia en maternidad se realiza observación clínica periódica para la detección de síntomas compatibles con infección. Resultados: De los 9.424 recién nacidos en este periodo, 1.425 cumplían los criterios de inclusión del estudio; 53 pacientes precisaron ingreso, la mitad de ellos por sospecha de infección, confirmándose finalmente solo en 7 este diagnóstico. Todos los pacientes presentaron clínica en las primeras 72 h de vida. Conclusiones: Los niños con factores de riesgo infeccioso que desarrollan una infección presentan clínica de forma precoz en las primeras horas tras el nacimiento. Este trabajo apoya la observación clínica estrecha como medida suficiente y segura para la detección de la sepsis neonatal precoz. Abstract: Introduction: Early-onset neonatal sepsis refers to an infection which starts during the first 72 hours of birth, and can lead to significant morbidity and mortality. Scientific evidence shows that infected infants present with symptoms during the first hours after delivery. There has been a significant decrease in this condition with the implementation of guidelines for its prevention. However, International guidelines still recommend the evaluation of these infants using painful tests. Material and methods: A prospective cohort study was conducted on all asymptomatic infants born at > 35 weeks gestation with one or more risk factors in a single tertiary care centre from 2011 to 2015. They were periodically observed in newborn nursery from admission until discharge looking for signs of infection. Results: Out of the 9,424 babies born during this period, 1425 were included in the study. A total of 53 infants were admitted to the neonatal unit, half of them because of sepsis suspicion. Finally, just 7 were discharged with the diagnosis of sepsis. All these 7 presented with symptoms during their first 72 hours of life. No sepsis was reported in asymptomatic infants. Conclusions: Truly infected infants present with symptoms during their first hours of life. This study supports the observation of infants at risk as a safe practice to detect early-onset sepsis.

Resumen: El Programa de cribado o detección precoz del hipotiroidismo congénito (HC) es uno de los mayores avances logrados en Pediatría. Las hormonas tiroideas son imprescindibles para el desarrollo y la maduración cerebral, que continúan en la etapa neonatal. El hipotiroidismo de comienzo en los primeros meses de vida origina lesiones irreversibles en el sistema nervioso central y es una de las causas más frecuentes y evitables de retraso mental. El diagnóstico clínico es tardío, por lo que requiere estudio analítico para poder efectuar el tratamiento adecuado.Este artículo actualiza los objetivos, los procedimientos diagnósticos, las pruebas imprescindibles y complementarias requeridas, la etiología y los diagnósticos diferenciales en esta patología. Con especial énfasis en los requerimientos de los centros de seguimiento para protocolizar los resultados del tratamiento con L-tiroxina administrada de forma inmediata al diagnóstico y a las dosis que eviten fases de infra o supradosificación que pueden alterar diversos aspectos del desarrollo cognitivo. La revaluación de etiología permanente vs. transitoria se recomienda siempre después de los 3 años de edad.La relevancia de este programa precisa su difusión a todas las áreas de pediatría. El objetivo principal, evitar el daño cerebral en estos pacientes, se ha logrado y es además altamente beneficioso desde el punto de vista económico.Otros aspectos para optimizar los resultados cognitivos con todos los controles periódicos necesarios y lograr la inclusión del diagnóstico del HC central, precisan implementar los recursos de los centros de seguimiento y continuar avanzando según los conocimientos actuales. Abstract: The screening program of congenital hypothyroidism (CH) is probably one of the best achievements in paediatrics. Thyroid hormones are essential for brain development and brain maturation that continue through the neonatal period. Hypothyroidism that begins in the first months of life causes irreversible damage to the central nervous system, and is one of the most frequent and preventable causes of mental retardation. As children with congenital hypothyroidism are born with a normal appearance, analytical studies are required to immediately start the appropriate therapy.This article analyses the aims, diagnostic procedures, tests required, aetiology, and differential diagnosis in this disorder. Especially relevant is to perform frequent monitoring to ensure dose adjustments of L-Thyroxine therapy, avoiding infra- or supra-dosing that negatively affects neurosensory functions. Re-evaluation of the aetiology permanent vs transient hypothyroidism is always recommended after 3 years of chronological age.The relevance of this screening program should be widely discussed in paediatrics. The main objective is to avoid cerebral damage in these patients, and has been highly successful and economically beneficial.Other aspects are required to optimise patient outcomes, to perform all the controls according to the recommendations and to include, in the near future, the diagnosis of central hypothyroidism. Implementation of this program is necessary to progress in accordance with current scientific knowledge.

This exploratory-descriptive study, with a qualitative approach, aimed to describe nurses’ knowledge relating to neonatal screening and its operationalization. The study participants were 13 nurses working in seven Family Health Strategy Centers in a city in the south of the State of Rio Grande do Sul, in May – July 2010. The data were collected in semi-structured interviews and were analysed using the technique of the Discourse of the Collective Subject. The interviewees showed knowledge concerning the neonatal screening test regarding its aim, the ideal period for blood collection, the collection technique, the diseases tracked, and which of them the State is equipped to diagnose. During the study, the importance was emphasized of the nursing professional continuously seeking technical-scientific training. Concomitantly, the need was perceived for public managers to provide more training opportunities to the health professionals.

OBJETIVO: descrever uma proposta de monitoramento de crianças, no primeiro ano de vida, que não foram identificadas na triagem auditiva neonatal, mas apresentavam indicadores de risco para deficiência auditiva. MÉTODO: participaram do estudo 258 crianças de risco que haviam obtido o resultado "passa" no Programa de Triagem Auditiva Neonatal Universal da Maternidade Santa Isabel - Bauru/SP no período de junho a novembro de 2008. Foi aplicado, via telefone, um questionário de acompanhamento do desenvolvimento da audição e da linguagem, validado em estudo anterior, contendo questões sobre a audição e a linguagem. Para cada questão havia duas possibilidades de resposta "sim" ou "não" e considerou-se como "falha", a obtenção de pelo menos uma resposta "não". Tal resultado refletia no agendamento da criança para realização de uma avaliação audiológica imediata. RESULTADOS: o questionário foi aplicado com 169 famílias, com as demais não foi obtido contato. Deste total, 164 (97,04%) apresentaram resultado "passa" e cinco (2,96%) resultado "falha". Dentre as cinco crianças, apenas três compareceram para avaliação audiológica e destas, uma não apresentava alterações e duas apresentavam perda auditiva condutiva. Observou-se prevalências distintas entre os fatores de risco e não houve relação (p>0,05) dos mesmos com a evasão no processo de monitoramento. CONCLUSÃO: o monitoramento por meio de aplicação de questionário via telefone mostrou-se viável, entretanto, é necessário o desenvolvimento de estratégias que favoreçam sua execução.PURPOSE: to describe the proposal of monitoring children in the first year of life, who were not identified in the newborn hearing screening program but had risk factors for hearing loss. METHOD: the study included 258 risk children who had obtained the result "pass" in the Universal Newborn Hearing Screening Program of Hospital Santa Isabel - Bauru/SP, from June to November 2008. It was applied by the telephone, a validated questionnaire in a previous study, containing questions about hearing and language. For each question there were two possible answers: "yes" or "no" and we considered "failure" to obtain at least one "no" answer. With such result, the child was scheduled to perform an immediate hearing evaluation. RESULTS: the questionnaire was applied with 169 families; with the others, there was no contact. From the total, 164 (97,04%) obtained "passed" and five (2,96%) "failed". Between these five children, only three showed up for hearing evaluation and one had no disorders; two presented conductive hearing loss. It was observed distinct prevalence among the risk factors and there was no relation (p>0,05) of the risk factors with the evasion in the monitoring process. CONCLUSION: the monitoring through a questionnaire applied by telephone proved to be feasible, however, it is necessary to develop strategies to support their execution.

OBJETIVO: analisar a especificidade e sensibilidade da TAN com emissões otoacústicas evocadas por estimulo transiente (EOAT) associadas à pesquisa do reflexo cócleo-palpebral (RCP), comparando-os aos resultados do Potencial Evocado Auditivo de Tronco Encefalico (PEATE). MÉTODO: a casuística do presente estudo foi composta por 369 RN de risco para deficiência auditiva que foram submetidos à triagem com a captação das emissões otoacústicas evocadas por estímulo transiente e pesquisa do reflexo cócleo- palpebral. Os resultados foram comparados aos resultados do Potencial Evocado Auditivo de Tronco Encefalico (PEATE). RESULTADOS: a incidência do tipo da perda auditiva na população geral foi de 4RN (1,1%) com perda coclear, 22 (5,9%) com perda condutiva, 2 (0,5%) com espectro da neuropatia auditiva (ENA), 14 (3,8%) com alteração central e 15 (4,1%) com atraso de maturação da via auditiva. A TAN mostrou 100% de sensibilidade e 94,6% de especificidade na detecção de alterações cocleares e espectro da neuropatia auditiva; 77,3% de sensibilidade e 94,6% de especificidade na detecção de alterações condutivas e 42,9% de sensibilidade e 94,6% de especificidade na detecção de alterações centrais. Todos os achados evidenciaram diferenças estatisticamente significantes em relação aos neonatos auditivamente normais. CONCLUSÃO: este protocolo de TAN mostrou-se eficaz na detecção de RN com alterações de cocleares e espectro da neuropatia auditiva com sensibilidade e especificidade elevadas.PURPOSE: to study the specificity and sensitivity of NHS with otoacoustic emissions transient stimulus (TEOAE) associated with cochlear-palpebral reflex (CPR), and comparing the results of Auditory Evoked Potential (BAEP). METHOD: three hundred and sixty-nine neonates under risk of hearing loss were evaluated. Evaluation procedures consisted of transient otocoustic emissions(TOAEs), cochlear-palpebral reflex (CPR), and ABR diagnostic carried out in the same week. RESULTS: the incidence in the general population was 4 neonates (1.1%) with cochlear hearing loss, 22 (5.9%) with conductive hearing loss, 2 (0.5%) with auditory neuropathy, 14 (3.8%) with central abnormalities and 15 (4.1%) with delayed maturation of the auditory pathway. The TAN showed 100% sensitivity and 94.6% specificity in detecting the spectrum of cochlear and auditory neuropathy, 77.3% sensitivity and 94.6% specificity in detecting conductive and 42.9% and 94.6% specificity while detecting central abnormalities. All findings showed statistically significant differences when compared to normal auditory neonates. CONCLUSION: this protocol was effective to detect in neonates with cochlear hearing loss and auditory neuropathy with high sensitivity and specificity.

In this study, the frequency of detected congenital hypothyroidism, phenylketonuria and haemoglobinopathies in the State of Rio de Janeiro's (Brazil) Newborn Screening Program (NBSP) was analyzed between the years of 2005 and 2007. There were two Newborn Screening Reference Centers (named NSRC A and B) with programmatic differences. In 2007, overall detection coverage reached 80.7%. The increase in the incidence of congenital hypothyroidism (1:1,030 in 2007) was attributed to the reduction of neonatal TSH value limits over time. The incidence discrepancy of phenylketonuria between NSRC A (1:28,427) and B (1:16,522) might be partially explained by the small number of cases. The incidence of sickle cell disease and its traits were uniformly high (1:1,288 and 1:21, respectively). This was coherent with the ethnic composition of the population. The differences in laboratory methods and critical values, in addition to other programmatic issues, may explain the variances in the results and limited analysis of the role of biological and environmental determinants in the occurrence of these diseases.Neste estudo, foi analisada a frequência de detecção do hipotireoidismo congênito, fenilcetonúria e hemoglobinopatias no Programa de Triagem Neonatal do Estado do Rio de Janeiro, Brasil, entre 2005 e 2007. Havia dois Serviços de Referência em Triagem Neonatal (designados SRTN A e B) com diferenças programáticas. Em 2007, a cobertura alcançou 80,7%. O aumento na incidência do hipotireoidismo congênito (1:1.030 em 2007) foi atribuído à redução no valor de corte do TSH ao longo do tempo. As incidências discrepantes da fenilcetonúria entre os modelos (SRTN A - 1:28.427; SR-TN B - 1:16.522) podem ser parcialmente explicadas pelo pequeno número de casos. A incidência da doença falciforme e do traço falcêmico foi uniformemente elevada (1:1.288 e 1:21, respectivamente), sendo coerente com a composição étnica da população. As diferenças nos métodos laboratoriais e valores críticos, além de outras questões programáticas, podem explicar a variabilidade nos resultados e limitar a análise do papel dos determinantes biológicos e ambientais sobre a ocorrência das doenças.

The multidisciplinary care, at different referral centers of cystic fibrosis, is aimed at monitoring and treating cystic fibrosis patients. Mortality attributed to this hereditary disease is high, since it affects the exocrine glands, involving multiple organs, and evolves in a chronic, progressive way. However, systemized care and the improved, shared understanding of gastroenterologists, nutritionists and pulmonologists, contribute to prolonged survival and abated morbimortality. The aim of this study is to describe the main aspects of clinical and nutritional intervention in cystic fibrosis patients so that monitoring by a multidisciplinary team is optimized and performed as early as possible. The review was carried out on articles indexed in the Medline, Lilacs, SciELO, Current Contents and Cochrane databases, finding 189 articles in Portuguese, English and Spanish, with emphasis on articles published between 2000 and 2011. Due to the scientific relevant contribution, some publications before 2000 were included totalized 77 related to the multidisciplinary care. The reviewed studies suggest that multidisciplinary care is essential for knowledge integration in order to impose permanent update of scientific information, thereby contributing to the development of intervention strategies that enhance survival and motivate the development of skills to cope with the complex treatment regimen that is necessary for cystic fibrosis treatment and prevention of related complications.La atención multidisciplinaria, en diferentes centros de referencia de la fibrosis quística, tiene por objeto el seguimiento y el tratamiento de pacientes con fibrosis quística. La mortalidad atribuidas a esta enfermedad hereditaria es alto, ya que afecta las glándulas exocrinas, afecta múltiples órganos, y evoluciona de manera crónica y progresiva. Sin embargo, la atención sistematizada y la mejor comprensión compartida de los gastroenterólogos, nutricionistas y neumólogos, contribuir a la prolongación de la supervivencia y la morbi-mortalidad disminuyó. El objetivo de este estudio es describir los principales aspectos de la intervención clínica y nutricional en pacientes con fibrosis quística, para que la supervisión de un equipo multidisciplinario se optimiza y realiza lo más pronto posible. La revisión se llevó a cabo en artículos indexados en el Medline, Lilacs, SciELO, Current Contents y bases de datos Cochrane, la búsqueda de 189 artículos en Portugués, Inglés y Español, con énfasis en los artículos publicados entre 2000 y 2011. Debido a la destacada contribución científica, algunas publicaciones antes de 2000 se incluyeron totalizado 77 relacionados con la atención multidisciplinaria. Los estudios revisados sugieren que la atención multidisciplinaria es esencial para la integración del conocimiento con el fin de imponer actualización permanente de información científica, contribuyendo así al desarrollo de estrategias de intervención que mejoren la supervivencia y motivar el desarrollo de habilidades para hacer frente a la pauta de tratamiento complejo que es necesario para tratamiento de la fibrosis quística y la prevención de las complicaciones relacionadas.

OBJETIVO: descrever a população de neonatos encaminhada para um programa de triagem auditiva seletiva, caracterizando e comparando o grupo de lactentes que compareceram à triagem (grupo I) com o grupo de lactentes que não compareceu (grupo II). MÉTODO: a amostra foi constituída por 55 lactentes, provenientes de uma maternidade de São Paulo. A metodologia incluiu a análise de prontuários e entrevistas com as mães. Foram variáveis do estudo: idade da alta hospitalar, resultado da triagem auditiva, resultado do diagnóstico, o tempo entre a alta hospitalar e a triagem, o tempo entre a alta hospitalar e o diagnóstico e, por fim, o tempo entre triagem e diagnóstico. Além destes aspectos, as características socioeconômicas e culturais dos grupos e os indicadores de risco foram analisados. RESULTADOS: foram encaminhados 55 lactentes e o comparecimento à triagem auditiva foi de 76% (42). A média de idade da alta hospitalar foi de 38 dias, da triagem auditiva foi de 42 dias e do diagnóstico foi de 95,1 dias. A média do tempo entre a alta e a triagem foi de 13 dias e da alta e diagnóstico de 40,8 dias. O grupo que compareceu à triagem apresentou peso menor, maior período de internação na UTI, maior número de indicadores de risco, maior renda familiar por pessoa e maior número de consultas pré-natal em comparação aos que não compareceram. CONCLUSÕES: as crianças que mostraram maior adesão à realização da triagem auditiva neonatal seletiva foram aquelas cujas mães compareceram a um maior número de consultas no pré-natal, as que apresentaram maior ocorrência de indicadores de risco, maior tempo de internação e quando as informações na maternidade mostraram-se mais efetivas.PURPOSE: to describe the population of high risk newborns referred for a hearing screening program at a selective hearing health service, as well, to characterize and compare the group of infants who attended the screening (group I) and the other of infants who did not attend the screening (group II). METHOD: we performed a prospective study in a child hearing center. The sample consisted of 55 infants under high risk at a maternity hospital in Sao Paulo. The methodology included the examination of medical records and interviews with the mothers. We studied the age at the hospital, hearing screening, diagnosis, time between hospital discharge and screening, the time between hospital discharge and diagnosis and, finally, the time between screening and diagnosis. We compared the socioeconomic and cultural groups and the risk factors. RESULTS: 55 infants were referred to the attendance and hearing screening was 76% (42). The mean age of hospital discharge was 38 days, the hearing screening was 42 days and the diagnosis was 95.1 days. The mean time between the discharge and screening was 13 days, between the discharge and the diagnosis was 40.8 days. The group attending the screening had lower weight, longer ICU stay, and greater number of risk factors, higher family income per person and more prenatal care than those who did not attend it. CONCLUSIONS: the children who showed greater adherence to the implementation of selective newborn hearing screening were those whose mothers attended a greater number of pre-natal cares, those that had increased incidence of risk factors, longer hospitalization and when the information in the maternity ward were more effective.

OBJETIVO: verificar a sensibilidade e especificidade do teste de potencial evocado auditivo de tronco encefálico em equipamento automático (PEATEa), comparando-o ao teste de potencial evocado auditivo de tronco encefálico em equipamento diagnóstico (PEATE) em um programa de triagem auditiva neonatal em neonatos de risco. MÉTODO: foram avaliados 186 neonatos, 83 nascidos a termo e 103 pré-termo, sendo 88 do sexo masculino e 98 feminino. A triagem constou de emissões otoacústicas evocadas por estímulos transientes (EOAT), PEATEa e ao PEATE na mesma semana. RESULTADOS: dos 186 neonatos avaliados, 156 (83,9%) apresentaram audição normal. A perda condutiva foi encontrada em 9 neonatos (4,8%),sendo 7 bilaterais e 2 unilaterais. A perda auditiva coclear foi observada em 5 neonatos (2,7%) sendo um unilateral. Alteração central foi obtida em 11 neonatos (5,9%) e um neonato foi diagnosticado como espectro da neuropatia auditiva -ENA(0,5%).Em 4 casos houve atraso maturacional na avaliação inicial com normalização das respostas no mês seguinte Comparando-se os resultados do PEATEa com o PEATE, observou-se alta sensibilidade ( superior a 99%) para identificação de perda coclear,condutiva, central, atraso maturacional e ENA .A especificidade do PEATEa foi de 100% para ENA, mediana para perda coclear (75% na OD e 60% na OE), e para alterações centrais (54,5%OD e 63,6% OE). Para identificação de perdas condutivas (inferior a 43%). CONCLUSÃO: o PEATEa foi eficaz na identificação das neuropatias auditivas com elevada especificidade e sensibilidade. Contudo, falsos negativos foram observados para perdas cocleares, condutivas, para alterações centrais e atraso maturacional.PURPOSE: to study the sensitivity and specificity of automatic ABR in comparison to diagnostic ABR of newborns under risk in a neonatal hearing screening program. METHOD: one hundred and eighty six neonates were evaluated, 83 born at term and 103 were pre terms, 88 male and 98 female gender. Evaluation procedures consisted of transient otoacoustic emissions(TOAEs), A-ABR and diagnostic ABR carried out in the same week. RESULTS: from the 186 evaluated newborns, 156 (83.9%) showed normal hearing. Conductive hearing loss was verified in nine neonates (4.8%), seven bilateral and two unilateral. Cochlear hearing loss was observed in five neonates (2.7%), one unilateral and four bilateral. Central evidences were observed in eleven neonates (5.9%) and one neonate was diagnosed with auditory neuropathy spectrum disorder (0,5%). In four cases, we found a maturational delay in the first evaluation with normal result within one month. In the comparison of A-ABR with diagnostic ABR, high sensitivity rates were observed (99% and higher) in the identification of cochlear, conductive, central and auditory neuropathy. Specificity rate of A-ABR was 100% for auditory neuropathy, 75% for right ear and 60% for left ear cochlear hearing losses and 54.5% for right ear and 63.6% for the left ear central abnormalities. For conductive hearing losses, specificity was low (lower than 43%). CONCLUSION: A-ABR was efficient in the identification of auditory neuropathies with high sensitivity and specificity rates. However, false negative responses were observed in the group diagnosed with cochlear and conductive hearing losses, central abnormalities and maturational delay.

OBJETIVO: verificar a concordância entre os resultados da triagem auditiva por meio de observação de respostas comportamentais e de emissões otoacústicas evocadas transientes. MÉTODO: foi realizado estudo clínico duplo-cego com 139 crianças de um a 180 dias de vida, atendidas no serviço de Triagem Auditiva Neonatal do Hospital Universitário de Santa Maria. Diferentes examinadores verificaram a presença do reflexo cócleo-palpebral e de emissões otoacústicas evocadas transientes. RESULTADOS: das 139 crianças avaliadas, 123 apresentaram reflexo cócleo-palpebral e emissões otoacústicas; 10 apresentaram somente reflexo cócleo-palpebral; três apresentaram somente emissões otoacústicas; três não apresentaram respostas em ambos os testes. Dezesseis crianças deveriam ser retestadas. Nove não compareceram. Das sete crianças retestadas, duas passaram em ambos os testes e cinco mantiveram falha e foram encaminhadas para avaliação de Potencial Evocado Auditivo de Tronco Encefálico. Uma delas não compareceu. Duas crianças tiveram emissões otoacústicas presentes e reflexo cócleo-palpebral ausente. Na avaliação de Potencial Evocado Auditivo de Tronco Encefálico uma delas manifestou audição normal e outra perda auditiva profunda. Uma criança que não evidenciou emissões otoacústicas, mas manifestou reflexo cócleo-palpebral, teve Potencial Evocado Auditivo de Tronco Encefálico compatível com perda auditiva moderada bilateral. A criança que falhou em ambos os testes apresentou perda auditiva severa bilateral na avaliação de Potencial Evocado Auditivo de Tronco Encefálico. CONCLUSÃO: a presença de emissões otoacústicas concomitante com ausência de reflexo cócleo-palpebral pode ser sinal de neuropatia auditiva. A análise de emissões otoacústicas e a avaliação do reflexo cócleo-palpebral são procedimentos complementares. A aparente discordância entre alguns resultados pode apontar diferentes tipos de comprometimento auditivo.PURPOSE: to check the agreement among the obtained results in hearing screening through the observation of behavioral responses and the transient evoked otoacoustic emissions. METHOD: a double-blind study was carried out with 139 infants attended in Neonatal Hearing Screening service of Santa Maria University Hospital. Different examiners evaluated the presence of eye blink reflex and transient evoked otoacoustic emissions. RESULTS: among the 139 evaluated infants, 123 showed eye blink reflex and otoacoustic emissions; 10 showed only otoacoustic emissions; and 3 failed in both tests. Sixteen infants should be re-evaluated. Nine did not come back to repeat the tests. Seven children were re-evaluated, two passed in both tests; five maintained the failed status and they were referred to evaluation on Auditory Response Audiometry. Two children showed otoacoustic emissions, but did not have eye blink reflex. In the evaluation of Auditory Response Audiometry, one manifested normal hearing and the other showed acute hearing loss. One child who did not evidence otoacoustic emissions, but manifested eye blink reflex, had compatible Auditory Response Audiometry with moderate hearing loss in both ears. The infant who failed in both test showed severe bilateral hearing loss in the evaluation of Auditory Response Audiometry. CONCLUSION: even though the otoacoustic emissions are present, the absence of eye blink reflex should be considered a reason to evaluate the Auditory Response Audiometry, and this can be sign of auditory neuropathy. Considering that the analysis of otoacoustic emissions and the evaluation of eye blink reflex are complement procedures. The apparent disagreement among some results can show different types of hearing disorder.

As diretrizes enfatizam o momento adequado para a coleta do teste de triagem neonatal entre o 3º e o 7º dias de vida, em 100% dos recém-natos. O tratamento do hipotireoidismo congênito e da fenilcetonúria iniciado até 2 semanas de vida é capaz de evitar as sequelas neurológicas dessas doenças. O programa de triagem neonatal do Estado do Rio de Janeiro foi credenciado para Fase II do Programa Nacional de Triagem Neonatal com dois modelos de programa - modelo A e modelo B. Foi realizada análise de desempenho do PTN de 2005 a 2007. Entre 2002 e 2007, a cobertura foi crescente e chegou a 80,4%, com 33,8% das coletas realizadas até 7 dias. Ambos os modelos tiveram desempenhos semelhantes e aquém das metas preconizadas, com 50% dos casos confirmados obtendo diagnóstico com mais de 48 dias de vida. Os atrasos acumulados nas diversas etapas do processo podem anular os benefícios da detecção precoce, fundamento da triagem neonatal. Os efeitos deletérios de longo prazo transcendem a esfera individual acarretando impacto no sistema de saúde e grande ônus social.Guidelines emphasize that the appropriate time frame for neonatal screening with the heel stick test is from the 3rd to 7th day of life, in 100% of newborns. Treatment for congenital hypothyroidism and phenylketonuria, when initiated in the first two weeks of life, is capable of preventing the neurological sequelae of these diseases. The Rio de Janeiro State Neonatal Screening Program was accredited for Phase 2 of the National Neonatal Screening Program, with two program models (A and B). A performance analysis was conducted for the Neonatal Screening Program, for the years 2005 to 2007. Coverage increased from 2002 to 2007, reaching 80.4%, with 33.8% of the blood samples drawn in the first 7 days of life. The two models showed similar performance, short of the targets, with 50% of the confirmed cases receiving their diagnosis at more than 48 days of life. The delays accumulated in the various stages of the process can impede the benefits of early detection, the cornerstone of neonatal screening. The deleterious long-term effects transcend the individual sphere, with an impact on the health system and a major social burden.

OBJETIVO: verificar a prevalência da deficiência auditiva em um programa de triagem auditiva neonatal e investigar mutações do gene GJB2 naqueles com suspeita de deficiência auditiva. MÉTODO: foi realizado estudo longitudinal com 908 RN a termo, pós-termo e pré-termo que foram submetidos à realização da triagem auditiva por meio do teste de Emissão Otoacústica Evocada por Estímulo Transiente (EOA-T) e reflexo cócleo-palpebral (RCP). Para os recém-nascidos, em que houve falha na triagem auditiva em uma ou ambas as orelhas, eram encaminhados para uma segunda avaliação. No reteste, quando o teste de EOA-T resultasse em não passa em uma ou ambas as orelhas, a criança era encaminhada para avaliação e conduta otorrinolaringológica. Após realização do Potencial Evocado Auditivo de Tronco Encefálico (PEATE) a equipe de avaliadores decidia se deveria encaminhar a criança para investigação da mutação. Quando havia suspeita de deficiência auditiva era colhido 3 mL de sangue venoso periférico para a pesquisa de mutação do gene da conexina 26. RESULTADOS: foi constatado a presença de deficiência auditiva condutiva em 2 recém-nascidos (0,22%) e neurossensorial em 1 (0,11%). Na criança com deficiência auditiva neurossensorial foi detectada a presença da mutação 35delG. CONCLUSÃO: a avaliação audiológica em conjunto com exames moleculares das principais mutações do gene GJB2 em recém-nascidos com suspeita da deficiência auditiva contribuiu para a rapidez do diagnóstico audiológico, visando uma intervenção precoce, aconselhamento genético e prognóstico educacional da criança.PURPOSE: to assess the prevalence of hearing loss in a newborn hearing screening program and investigate mutations in the GJB2 gene in those with suspected hearing loss. METHOD: we performed longitudinal study of 908 term infants, post-term and preterm infants who underwent hearing screening by the test Emission Transient Evoked Otoacoustic (EOA-T) and cochlear palpebral reflex. For newborns, those who failed the hearing screening in one or both ears, were referred to a second evaluation. In the retest, while the EOA-T test result in not passing on one or both ears, the child was referred for evaluation and otorhinolaringology management. After completing the Auditory Evoked Potential test, the team of evaluators decided whether it should refer the child to investigate the mutation. When there was suspicion of hearing impairment we collected 3 mL of peripheral venous blood for the detection of mutation in the connexin 26 gene. RESULTS: we observed the presence of conductive hearing loss in 2 neonates (0.22%) and sensorineural in 1 (0.11%). In children with sensorineural hearing loss we detected the presence of 35delG mutation. CONCLUSION: the audiological assessment in conjunction with molecular tests of the main GJB2 gene mutations in newborns with suspected hearing loss contributed to the rapid audiological diagnostic, seeking early intervention, educational and genetic counseling and prognosis of the child.

Estudo transversal, quantitativo, realizado no Alojamento Conjunto de um hospital de médio porte, no interior do Paraná do qual fizeram parte 40 puérperas maiores de 18 anos. Teve como objetivo analisar o conhecimento desta população sobre a finalidade e importância da realização do "teste do pezinho" e caracterizá-la sócio-demograficamente. Os dados foram coletados em maio e junho de 2010, através de um questionário semi-estruturado elaborado e aplicado pelos próprios pesquisadores. A finalidade da triagem neonatal era conhecida por 65% (n=26) das participantes, observando-se que a maioria conhecia a finalidade e sabia sobre a importância da realização do "teste do pezinho", fato este que denota a importância das orientações que devem ser dispensadas a estas mães sobre o referido assunto, mesmo antes do nascimento do bebê, com enfoque ainda no pré-natal, destacando-se a importância do papel do enfermeiro neste contexto.Estudio transversal, cuantitativo, celebrada en alojamiento conjunto de un hospital en el interior de Paraná, Brasil, con 40 madres de más de 18 años. Tuvo como objetivo examinar el conocimiento das madres sobre el propósito y la importancia de completar la "prueba de Guthrie" y caracteriza su socio-demográficamente. Los datos se recolectaron en mayo y junio de 2010 a través de un cuestionario, desarrollado e implementado por los investigadores. El objetivo del cribado neonatal era conocido por el 65% (n = 26) de los participantes, la mayoría sabía que el propósito y la importancia de completar la "prueba de Guthrie", que demuestra la importancia de las directrices que debe ser puesto a las madres sobre el tema, antes del nacimiento del bebé, enfocado en la atención prenatal, haciendo hincapié en la importancia del papel de las enfermeras en este contexto.This is a cross-sectional quantitative study quantitative held in the rooming area of a medium-sized hospital in the hinterlands of Paraná, Brazil. 40 mothers over 18 years participated in the study. The study aimed to examine what this population knows about the purpose and importance of completing the "Guthrie test" and also to characterize these mothers sociodemographically. The data were collected in May and June 2010 through a semi-structured questionnaire developed and implemented by the researchers themselves. The purpose of neonatal screening was known by 65% (n = 26) of the participants. The majority of them knew the purpose and knew about the importance of completing the "Guthrie test", a fact which shows the importance of the orientations these mothers must have on this subject even before the birth of the baby, still focusing on prenatal care, and emphasizing the importance of the role of nurses in this context.

Objetivo: describir las características clínicas y demográficas y los factores de riesgo de neonatos con retinopatía de la prematuridad (ROP), detectados en el programa de tamización de la Clínica Universitaria Bolivariana, en la ciudad de Medellín, Colombia, durante los años 2003 a 2008.Metodología: se revisaron los registros de 1.080 neonatos. Los criterios para tamización fueron: 32 o menos semanas de edad gestacional (EG) y 1.600 gramos o menos de peso al nacer (PN). Se creó una base de datos en la que se registraron las variables demográficas, algunos factores de riesgo maternos y neonatales, la clasificación de la ROP y el tratamiento requerido. Se analizaron y compararon los resultados con la epidemiología regional e internacional.Resultados: la prevalencia global de ROP fue del 18,2% (197 neonatos), con EG media de 29,53 semanas y PN medio de 1.230 gramos. En menores de 1.250 gramos dicha prevalencia fue del 40%. Los factores de riesgo más frecuentes fueron la enfermedad de membrana hialina, la sepsis (p = 0,00) y la preeclampsia; 125 de los 197 niños (63,5%) recibieron terapia con oxígeno (p = 0,00). El 10,2 % de los neonatos con ROP requirieron tratamiento quirúrgico.Conclusión: con el presente estudio, se aportan datos estadísticos actualizados referentes a la prevalencia de ROP y a los factores de riesgo en nuestra población.

The aim of this study was to investigate the results of the red reflex test and to associate these results with neonatal variables. This descriptive study was conducted with 190 newborns in a public maternity hospital. A total of 187 infants presented no alteration and three presented suspect results. Different shades of reflex color were observed: 50 (26.3%) presented red; 34 (17.9%) orange-red, 92 (48.4%) orange, 11 (5.8%) light yellow and three (1.6%) milky white spots. Statistically significant associations between the color gradient instrument and neonatal variables were found: weight (p=0.03), gestational age (p=0.019) and oxygen therapy (p=0.024). Nurses trained to practice and evaluate this test may become professionals in the potential for the prevention of childhood blindness.Se objetivó investigar el resultado de la prueba del reflejo rojo, conocido como prueba del ojito, y asociar las impresiones del reflejo con variables neonatales. Se trata de un estudio descriptivo, cuantitativo, realizado con 190 recién nacidos de una maternidad pública; de los cuales 187 presentaron resultados no alterados y tres sospechosos. Se observaron diferentes matices de coloración del reflejo: en 50 (26,3%) se presentó rojo; 34 (17,9%) naranja rojizo; 92 (48,4%) anaranjado; 11 (5,8%) amarillo claro y tres (1,6%) con manchas blanquecinas. Se encontraron asociaciones estadísticamente significativas entre el instrumento gradiente de colores y las variables neonatales: peso (p=0,03), edad de gestación (p=0,019) y oxigenoterapia (p=0,024). Enfermeros capacitados para la práctica y evaluación de esa prueba pueden tornarse profesionales en potencial para la prevención de la ceguera infantil.Objetivou-se investigar o resultado do teste do reflexo vermelho, conhecido como teste do olhinho, e associar as impressões do reflexo com variáveis neonatais. Este é um estudo descritivo, quantitativo, realizado com 190 recém-nascidos de uma maternidade pública, dos quais 187 apresentaram resultado não alterado e três suspeitos. Observaram-se diferentes nuances de coloração do reflexo: em 50 (26,3%) a coloração do reflexo apresentou-se vermelha; 34 (17,9%) laranja-avermelhado; 92 (48,4%) alaranjado; 11 (5,8%) amarelo claro e três (1,6%) com manchas esbranquiçadas. Encontraram-se associações estatisticamente significantes entre o instrumento gradiente de cores e variáveis neonatais: peso (p=0,03), idade gestacional (p=0,019) e oxigenoterapia (p=0,024). Enfermeiros capacitados para prática e avaliação desse teste podem se tornar profissionais em potencial para a prevenção da cegueira infantil.

Este trabalho avalia a eficiência da adição do exame da galactosemia junto ao Teste do Pezinho. Baseado na incidência média estimada de galactosemia, de 1:19.984 recém-nascidos, no Estado de São Paulo, Brasil, este estudo desenvolve um modelo de análise de custo-benefício, utilizando a relação benefício/custo (B/C), a taxa de juros de 9,25% ao ano para descapitalização dos resultados obtidos. Também se realiza uma análise de sensibilidade, em função da variação da taxa de juros entre 0 e 20% e do intervalo de 95% de confiança da incidência da galactosemia (1:7.494 a 1:59.953 recém-nascidos). A economia obtida com a melhora da saúde das crianças doentes identificadas precocemente é superior aos custos (B/C = 1,33), caracterizando como eficiente a política de adição do exame neonatal para galactosemia no Teste do Pezinho. Quanto menor a taxa de juros vigente na economia, mais eficiente é a política de triagem neonatal, não considerados os custos sociais intangíveis evitados.This study assesses the efficiency of the galactosemia add-on test in neonatal screening performed on regular Guthrie card blood spots. Based on estimated average incidence of galactosemia (1:19,984 newborns) in São Paulo State, Brazil, the study develops a cost-benefit analysis model, using a B/C ratio and a 9.25% annual interest rate in order to decapitalize the results. Sensitivity analysis is also performed, varying (as a function of the interest or discount rate) from 0 and 20% and according to the 95% confidence interval (1:7,494-1:59,953 newborns). The results show that the savings obtained by improved health of galactosemic patients detected early by add-on neonatal screening is superior to the costs (B/C=1.33), characterizing galactosemia add-on testing in neonatal screening as an efficient policy. The lower the prevailing interest rate in the economy, the more efficient the neonatal screening policy.

OBJETIVO: analisar a amplitude absoluta e nível de Response das emissões otoacústicas evocadas transientes em recém-nascidos pré-termo e a termo. MÉTODOS: participaram deste estudo 50 recém-nascidos a termo e 50 pré-termo, os quais foram submetidos à triagem auditiva neonatal por meio da pesquisa das emissões otoacústicas evocadas transientes, realizada entre 24 horas e 11 semanas de vida. Todos os recém-nascidos apresentaram presença de emissões otoacústicas evocadas por clique no teste da triagem auditiva neonatal. RESULTADOS: não houve diferença estatisticamente significante da amplitude e nível de Response entre os recém-nascidos a termo e pré-termos. Não houve correlação significante entre os fatores prematuridade, idade do recém-nascido no teste e tempo de estimulação auditiva com os resultados obtidos. CONCLUSÃO: as emissões otoacústicas evocadas transientes registradas em recém-nascidos a termos e pré-termos apresentam semelhante amplitude absoluta e nível de Response.PURPOSE: to analyze the absolute amplitude and response level of transient evoked otoacoustic emissions in preterm and full-term newborns. METHODS: 50 full-term and 50 preterm newborns took part in the study. They underwent newborn hearing screening, through research of transient evoked otoacoustic emissions, performed between 24 hours and 11 weeks of life. All newborns showed transient evoked otoacoustic emissions in the newborn hearing screening test. RESULTS: no statistically significant difference of amplitude and response level was found between the full-term and preterm newborns. There was no significant correlation among factors such as prematurity, age of newborn at test and time of hearing stimulation with the results obtained. CONCLUSION: transient evoked otoacoustic emissions recorded in full-term and preterm newborns showed similar absolute amplitude and Response level.

OBJETIVOS: conhecer o índice de bebês avaliados na Triagem Auditiva Neonatal Universal de um hospital da rede pública de Campinas - São Paulo que concluíram o processo diagnóstico tendo falhado no teste de Emissões Otoacústicas Evocadas Transientes. MÉTODOS: a amostra é composta por 1146 protocolos de bebês avaliados no Programa de Triagem Auditiva Neonatal Universal desse hospital, no período de julho de 2007 a abril de 2008. RESULTADOS: a Triagem Auditiva Neonatal Universal mostrou efetividade de 69,4%, porém, a partir do reteste dos bebês que falharam, o índice de sucesso no seguimento cai acentuadamente. Do total da amostra, 11 bebês apresentaram suspeita de perda auditiva, dos quais quatro apresentaram alteração. CONCLUSÃO: os dados sugerem a necessidade de aperfeiçoamento do programa.PURPOSE: to know the index of babies who failed in the EOAET diagnosis process in the Universal Neonatal Auditory Scan Program of an public hospital in Campinas, São Paulo, Brazil. METHODS: the sample is composed of 1146 protocols of babies evaluated in the Universal Neonatal Auditory Scan Program in this hospital, in the period of July 2007 to April 2008. RESULTS: Universal Neonatal Auditory Scan presented effectiveness of 69.4%, although the retest of the babies that failed in the EOAET diagnosis have shown that the success in the follow up process goes down significantly. From the total of the sample, 11 babies were suspected to have auditory loss and four had some alteration. CONCLUSION: data suggesting that the program needs to be improved.

OBJETIVO: verificar a prática de Triagem Auditiva Neonatal na cidade de Curitiba-PR. MÉTODOS: inicialmente foi realizado um levantamento do número de maternidades e/ou hospitais com maternidades existentes na cidade de Curitiba, mediante a consulta no Cadastro Nacional de Estabelecimentos de Saúde. Constatou-se a existência de um total de 59 hospitais cadastrados, sendo que três destes são maternidades e 18 são hospitais com maternidade. A partir do levantamento feito, foi estabelecido um contato com o profissional responsável por cada uma das instituições, sendo questionado quanto à existência de um programa de Triagem Auditiva Neonatal e para aqueles que o apresentavam foi entregue um questionário a fim de obter informações a respeito do referido serviço. RESULTADOS: constatou-se que apenas 23,8% das maternidades realizam Triagem Auditiva Neonatal, sendo que destas, 20% é universal para neonatos a termo e 80% universal para neonatos de alto risco. A triagem em todos os serviços é realizada com Emissões Otoacústicas Evocadas por Estímulo Transiente. CONCLUSÃO: mediante o estudo realizado verificou-se que a lei número 14588 - 22/12/2004 não está sendo rigorosamente cumprida. Apesar da demanda aliada à importância da detecção precoce, a Triagem Auditiva Neonatal não é realizada em todas as maternidades existentes e mesmo naquelas nas quais há um fonoaudiólogo e a triagem auditiva é realizada, esta não é universal.PURPOSE: to check the practice of newborn hearing screening in Curitiba-PR. METHODS: a survey was initially conducted to check the number of existing maternities and hospitals with maternities included in the National Register of Health's Establishments. We found that 59 hospitals were registered; three are maternities and 18 are hospitals that include a maternity. We asked each of the professionals in charge for the institution if some kind of newborn hearing screening was conducted and, for those who had the service, a questionnaire was given in order to collect information on the program. RESULTS: we found that 23.8% of the institutions perform newborn hearing screening. In 20% of them, this service is universal for full term babies, while in 80% of them it is available for premature/high risk babies. All of the services use Transient Evoked Otoacoustic Emissions (TEOAE). CONCLUSION: we concluded that the Brazilian law number 14588 - 22/12/2004 is not being followed. Despite of the need and the importance for early detection of hearing loss, hearing screening is not accomplished in all maternities. In places where such screening takes place, it is not universal.

O Programa de Triagem Neonatal do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Brasil, instituído em 1994 diagnosticou, até 2005, 76 crianças com hipotireoidismo congênito, 10 com fenilcetonúria e 25 com hemoglobinopatias, o que representou uma incidência de 1:2.595, 1:19.409, 1:4.120, respectivamente. Foram diagnosticadas 2.747 crianças com traço falciforme (1:37,5 nascidos vivos). A cobertura média do programa foi de 94,5%. Houve uma considerável melhora nos parâmetros de avaliação da qualidade do programa no período, porém, sem atingir os índices ideais. Campanhas visando à maior divulgação da importância da triagem neonatal são necessárias para aumentar a cobertura e a instituição do 3º dia de vida do recém-nascido como sendo o Dia do Teste do Pezinho poderia contribuir para que idades mais precoces de tratamento fossem atingidas, melhorando o prognóstico das crianças acometidas.The Neonatal Screening Program at the University Hospital of the Ribeirao Preto School of Medicine, São Paulo University, Brazil, was introduced in 1994. As of December 2005, congenital hypothyroidism had been diagnosed in 76 infants, phenylketonuria in 10, and hemoglobinopathies in 25, representing incidence rates of 1:2,595, 1:19,409, and 1:4,120, respectively. A total of 2,747 newborns had the sickle cell trait, i.e., were heterozygous for the sickle mutation (1:37.5 live births). The program's mean coverage during this period was 94.5%. There was major improvement in the parameters for evaluating the program's quality, although they were still far from ideal. Public-awareness campaigns on the importance of neonatal screening are needed to increase the program's coverage. Setting postnatal day 3 as the standard Day for the Heel Stick Test would help ensure treatment at earlier ages, thus improving prognosis for affected infants.

Para determinar a prevalência da anemia e traço falciforme em recém-nascidos no Distrito Federal, Brasil, no período de 2004 a 2006, foi realizado um estudo seccional de prevalência. Foram utilizados os registros dos resultados de testes realizados de 2004 a 2006 pelo Programa de Triagem Neonatal da Secretaria de Estado de Saúde do Distrito Federal, e calculados os coeficientes de prevalência. As amostras de sangue dos recém-nascidos foram analisadas pela técnica de focalização isoelétrica. No período de 1º de janeiro de 2004 a 31 de dezembro de 2006, foram realizados 116.271 testes de triagem neonatal para hemoglobinopatias, correspondendo a 85% do número de nascidos vivos de mães residentes no Distrito Federal. Foram identificados, nos três anos, 3.760 recém-nascidos, com traço falciforme (Hb AS) e 109 com anemia falciforme (Hb SS). Os coeficientes de prevalência foram, respectivamente, 323 (Hb AS) e 9 (Hb SS) por 10 mil nascidos vivos. A elevada prevalência do traço falciforme evidencia a importância da triagem neonatal no Distrito Federal para atuação de gestores e profissionais da saúde no planejamento de ações educativas e na redução da morbidade associada às doenças falciformes.To determine the prevalence of sickle cell trait and sickle cell anemia among newborns in the Federal District, Brazil, a cross-sectional prevalence study covering the years 2004 to 2006 was conducted. Test results reported from the Neonatal Screening Program in the Federal District Health Department from 2004 to 2006 were analyzed, and prevalence rates were calculated. Neonatal blood samples were tested by isoelectric focalization. From January 2004 to December 2006, 116,271 newborns were tested for hemoglobinopathies, corresponding to 85% of all live births from mothers residing in the Federal District. The study identified 3,760 newborns with sickle cell trait (Hb AS) and 109 with sickle cell anemia (Hb SS). The prevalence rates were 323 (Hb AS) and 9 (Hb SS) per 10,000 live births. The high prevalence of sickle cell trait highlights the importance of neonatal screening in the Federal District to support work by health managers and professionals for planning educational measures and reducing the morbidity associated with sickle cell disease.

OBJETIVOS: identificar os sentimentos das mães em relação à Triagem Auditiva Neonatal (TAN) durante a testagem de seu filho; verificar a suficiência de informações prestadas sobre o tema; conhecer sua opinião quanto à possibilidade de o filho apresentar deficiência auditiva. MÉTODOS: durante três meses foram entrevistadas 75 mães de crianças nascidas no Hospital Universitário de Santa Maria, que compareceram, para realização da Triagem Auditiva Opcional. Foram prestadas informações sobre objetivos e procedimentos da TAN e ressaltada a importância do retorno da criança entre oito e 12 meses de idade. Foi aplicado um questionário de forma individual por graduandos em Fonoaudiologia, relacionado aos objetivos da pesquisa. RESULTADOS: 58 (77,3%) mães afirmaram que a TAN é uma maneira de identificar a deficiência auditiva cedo; 64 (85,3%) consideraram suficientes as informações recebidas; 27 (36%) referiram sentimentos positivos enquanto o filho está sendo avaliado, 23 (30,7%) apontaram sentimentos negativos e 25 (33,3%) sentimentos mistos (tanto negativos quanto positivos). Quanto à possibilidade de o filho apresentar deficiência auditiva 57 (76%) mães opinaram negativamente. CONCLUSÕES: a grande maioria das mães entrevistada soube responder corretamente o que é a TAN e as informações por elas recebidas foram consideradas suficientes; houve predomínio de sentimentos positivos durante a realização do exame; a possibilidade de o filho apresentar deficiência auditiva foi considerada nula por três quartos das mães estudadas.PURPOSES: to identify feelings expressed by the mothers during their children's Neonatal Auditory Screening (NAS), to check the sufficiency of the provided information; to find out their opinions on the possibility of having a hearing impaired child. METHODS: during three months 75 mothers that gave birth at the University Hospital were interviewed after signing the Permission Form when they arrived for the Optional Neonatal Auditory Screening. Information on the purposes and procedures of NAS were provided, showing the importance of the screening done between the age of 8 and 12 months. A questionnaire was applied by undergraduate Audiology students. The questionnaire was applied individually. RESULTS: 58 (77.3%) mothers affirm that NAS is an early way of identifying hearing impairment; 64 (85.3%) consider that the provided information is sufficient; 27 (36%) point out having positive feelings during their children's screening, 23 (30.7%) point out negative feelings, while 25 (33.3%) point out having mixed feelings about the subject. As to the possibility of having a hearing impaired child, 57 (76%) mothers showed negative opinions. CONCLUSIONS: the majority of the interviewed mothers were able to answer correctly on what NAS was, as well as they considered the information given about the test to be sufficient; there was a predominance of positive feelings during the screening; the possibility of having a hearing impaired child was considered null by three-thirds of the studied mothers.

Se han analizado un total de 70 943 muestras de sangre total en papel filtro S&S 903 de neonatos de Costa Rica (octubre 2005 a Octubre 2006) con el fin de detectar variantes de hemoglobina mediante la técnica de isoelectroenfoque. Se detectaron 891 casos con alguna variante para una frecuencia de 1/79. Se clasifican 5 casos homocigotos para hemoglobina S (anemia drepanocítica o anemia falciforme) y un caso doble heterocigoto para SC. En este estudio se demuestra que las variantes fenotípicas de hemoglobina S como la C, se encuentran distribuidas por todo el país con algunas diferencias locales, razón por la cual es importante que la prevención de nuevos casos se realicé a través de nuestro Programa Nacional de Tamizaje de Hemoglobinas junto con un Programa Nacional interdisciplinario de Educación para el portador del rasgo (AS/AC) como, para el enfermo y su familia; al igual que la instauración de programas dirigidos a médicos generales y enfermeras en todas las regiones de salud del país, para asegurar consejo genético a portadores y enfermos, y a la vez, mejorar los sistemas de tratamiento a los pacientes para reducir la morbi -mortalidad.Abnormal haemoglobins in the newborn human population of Costa Rica. Hemoglobinopathies are hereditary autosomic recessive diseases. A total of 70 943 samples of whole blood collected by heel prick in filter paper (S&S 903) from throughout Costa Rica (October 2005-October 2006) were analyzed to detect variants of hemoglobin by the iso-electric focusing technique. Eight hundred ninety one cases presented some variant, for a frecuency of 1/79. Five cases are homozygous for hemoglobin S (sickle cell disease) and one shows the double heterozygous genotype SC. in this study the S and C variants of hemoglobin, although with some local differences, are widespread all over the country. Thus, the prevention of new cases is important through the testing of hemoglobin in the Costa Rican National Newborn Screening Program, together with a interdisciplinary National Program of Education for the disease and carrier status (AS/AC) for patients, families and medicar personnel. This is the basis for proper genetic counseling, to improve treatment and to reduce morbi-mortality. Rev. Biol. Trop. 56 (3): 995-1001. Epub 2008 September 30

O Ministério da Saúde instituiu o Programa Nacional de Triagem Neonatal através da Portaria nº. 822/GM, incluindo a pesquisa das hemoglobinopatias nos recém-nascidos. No Paraná, é realizada pela Fundação Ecumênica de Proteção ao Excepcional. Determinou-se a prevalência da hemoglobina S em homozigose, heterozigose e Sbeta-talassemia no estado. O sangue coletado em papel filtro foi examinado por focalização isoelétrica e cromatografia líquida de alta precisão (HPLC). De janeiro de 2002 a dezembro de 2004, foram triados 548.810 recém-nascidos e detectados 21 recém-nascidos com os resultados FS, dois FSA e/ou FS e quatro FSA. Após exames confirmatórios aos seis meses de idade, 12 foram definidos como anemia falciforme, com prevalência de 2,2:100 mil recém-nascidos; a interação Sbeta-talassemia foi confirmada em quinze (2,7:100 mil recém-nascidos); e 8.321 recém-nascidos foram diagnosticados como heterozigotos para HbS (1.500:100 mil recém-nascidos). A prevalência da HbS no Paraná é menor do que nas regiões Centro-Oeste, Norte e Nordeste do país. Origem étnica da população, óbitos fetais e casamentos preferenciais podem estar contribuindo para não haver maior número de homozigotos no estado. A interação Sbeta-talassemia sugere presença de povos euro-mediterrâneos na miscigenação dessa população.The Brazilian Ministry of Health created the National Neonatal Screening Program under ruling no. 822/2001, including neonatal screening for hemoglobinopathies. In the State of Paraná, neonatal screening is conducted by the Ecumenical Foundation for the Protection of the Handicapped. The prevalence rates were determined for homozygous and heterozygous hemoglobin S and Sbeta-thalassemia. Blood samples drawn on filter paper were examined by isoelectric focusing (IEF) and high-performance liquid chromatography (HPLC). From January 2002 to December 2004, 548,810 newborns were screened, with the detection of 21 with FS, two FSA/FS, and four FSA. After confirmatory tests at six months of age, 12 were defined as sickle-cell anemia, or a prevalence of 2.2:100,000 newborns; Sbeta-thalassemia was confirmed in 15 (2.7:100,000 newborns); and 8,321 newborns were diagnosed as heterozygous HbS (1,500:100,000 newborns). HbS prevalence in Paraná (in southern Brazil) is lower than in the Central-West, North, and Northeast of the country. Ethnic origin of the population, fetal deaths, and non-random procreation may contribute to the relatively low number of homozygous individuals in the State. Sbeta-thalassemia interaction suggests the presence of Euro-Mediterranean peoples in this population's miscegenation.

OBJETIVO: Estimar o incremento no número adicional de afetados com base na prevalência de síndromes falciformes em familiares de casos-índice. MÉTODOS: Estudo transversal em familiares de amostra aleatória dos casos-índice identificados por programa de triagem neonatal em Pernambuco, no período de 2001 a 2005. O modelo de triagem familiar ampliado incluiu 463 membros familiares de 21 casos-índice. Os familiares foram categorizados como: núcleo reduzido (NR -pai, mãe e irmãos); de primeiro grau (N1 - avós, tios e primos de primeiro grau); de segundo grau (N2 - filhos dos primos de primeiro grau); ampliado (NA - NR+N1+N2) e ampliado de primeiro grau (NA1 -NR+N1). A confirmação da presença de HBB*S e detecção de hemoglobinas anormais foram realizadas por meio da High Performance Liquid Chromathgraphy. A associação entre a presença de HBB*S e variáveis foi testada pelo cálculo da razão de prevalência e respectivos IC 95% e a diferença entre médias verificadas pelo teste t de Student, ao nível de significância de 5%. RESULTADOS: A anemia falciforme era desconhecida por 81% dos familiares; o gene HBB*S esteve presente em 114 familiares. Observou-se que 53,3% da população estudada estava na faixa considerada reprodutiva e 80% das pessoas portadoras do gene HBB*S já tinham gerado filhos. A freqüência foi maior no núcleo NR (69%), mas também elevada no N1 (22,8%). O NA1 resultou na detecção de 69 portadores adicionais (aumento de 172%). CONCLUSÕES: Os resultados indicam que a triagem familiar para identificação de portadores de síndrome falciforme deve ser estendida para os familiares até o primeiro grau.OBJECTIVE: To estimate the additional number of affected individuals based on the prevalence of sickle-cell syndromes among relatives of index cases. METHODS: Cross-sectional study of relatives of a random sample of index cases identified through a neonatal screening program in Northeastern Brazil, between 2001 and 2005. The extended family trial model included 463 relatives of 21 index cases. Relatives were classified as nuclear family (NF: father, mother, and siblings); first degree extended family (N1: grandparents, uncles and aunts, and first cousins); second degree extended family (N2: children of first cousins); extended family (NA: NF+N1+N2); and extended nuclear family (NA1: NF+N1). The presence of HBB*S and other abnormal hemoglobins was confirmed by high-performance liquid chromatography. The association between the presence of HBB*S and other variables was calculated using prevalence ratios and their respective 95% confidence intervals, and differences between means were calculated using Student's t test with a 5% significance level. RESULTS: Of relatives, 81% had no knowledge of sickle-cell anemia and HBB*S was present in 114 family members. A total of 53.3% of the studied population was considered as of reproductive age, and 80% of HBB*S carriers had already had children. Frequency was higher among NF (69%), but was also high in N1 (22.8%). NA1 screening resulted in the detection of 69 carriers additional (a 172% increase). CONCLUSIONS: These results indicate that family screening for the identification of sickle-cell carriers should be extended to first degree relatives.

OBJETIVO: identificar a aplicabilidade clínica da triagem auditiva neonatal na rotina dos médicos pediatras neonatologistas no município de Maceió-AL. MÉTODOS: foi realizado um estudo transversal analítico com 36 médicos pediatras neonatologistas por meio da aplicação de um questionário com seis perguntas objetivas. RESULTADOS: observou-se que 88,9% dos pediatras neonatologistas conhecem a triagem auditiva neonatal, no entanto, 11,1% desconhecem. No serviço particular de saúde, 66,1% encaminham todos os recém-nascidos para a triagem em sua rotina. No serviço público, apenas 7,4% encaminham todos os recém-nascidos e 42,8% não encaminham. Em relação à Lei Municipal nº 5.555/06, que obriga a realização da triagem auditiva neonatal universal nas maternidades e estabelecimentos hospitalares congêneres no município de Maceió, 41,7% dos médicos declararam não conhecer. Apenas 36,1% afirmaram conhecer o trabalho fonoaudiológico na prevenção da surdez. CONCLUSÃO: neste estudo, pode-se concluir que a triagem auditiva neonatal está inserida na rotina clínica da maioria dos médicos pediatras neonatologistas que trabalham na rede particular de saúde. No entanto, observa-se carência de recursos para a implantação e continuidade do programa no serviço público e pouco conhecimento do papel do fonoaudiólogo na prevenção da surdez.PURPOSE: to identify the clinical applicability of neonatal hearing screening in the routine of neonatologist pediatrician doctors in the city of Maceió-AL. METHODS: an cross-section analytical study was carried out with 36 neonatologist pediatricians through the application of a questionnaire with six objective questions. RESULTS: it was observed that 88.9% of neonatologist pediatricians know on neonatal hearing screening; however, 11.1% do not know./ In the private health service, 66.1% refer all the newborn babies to the screening in their routine. In the public service, only 7.4% refer all the newborn babies and 42.8% do not. In relation to the Municipal Law number 5.555/06, which makes the neonatal hearing screening compulsory in the maternities and similar establishments in the city of Maceió, 41.7% of the doctors have declared not knowing. Just 36.1% have stated knowing the speech pathology related work in the prevention of deafness. CONCLUSION: in this study, it can be concluded that the neonatal hearing screening is inserted in the clinical routine of the majority of the neonatologist pediatrician doctors that work in the particular health service. However, there is a lack of resources for implementing and continuing the program in the public service and there is very little knowledge on the role of the speech pathologist in preventing deafness.

OBJETIVO: investigar o conhecimento, a valorização da detecção precoce da deficiência auditiva pelos profissionais da saúde envolvidos no período pré e pós gestacional e verificar o conhecimento das mães sobre a importância da triagem auditiva neonatal. MÉTODOS: o instrumento da pesquisa constituiu-se de três questionários com perguntas fechadas e específicas aos profissionais envolvidos; pediatras, ginecologistas/obstetras e enfermeiros, além das mães dos bebês nascidos em uma maternidade na cidade de Maringá/PR, no período de janeiro a fevereiro/2005. RESULTADOS: observou-se no questionário realizado com os médicos que todos, 100%, referiram ter conhecimento da saúde auditiva do bebê, 69% recomendaram o teste da orelhinha, 82% referiram que até os primeiros três meses seria o período ideal para o diagnóstico auditivo e apenas 37% souberam referir quais os exames necessários a serem realizados. Entre os enfermeiros, 78% demonstraram ter conhecimento sobre a detecção precoce da perda auditiva e 67% referiram orientar os pais sobre o teste da orelhinha. Sobre a importância da detecção precoce da deficiência auditiva, 22% não responderam ou não acharam relevante. No questionário realizado com as mães, 81% relataram não terem recebido orientações a respeito das doenças que alteram o desenvolvimento auditivo, 72% não tinham conhecimento a respeito da detecção precoce da deficiência auditiva. CONCLUSÃO: mostrou-se evidente neste estudo um conhecimento reduzido com relação a detecção precoce da perda auditiva e da triagem auditiva neonatal por parte das pessoas envolvidas nesta pesquisa.PURPOSE: to investigate the knowledge and valorization of early detection of hearing loss by health professionals involved in the period before and after gestation and to check the mothers' knowledge on the importance of neonatal auditory screening. METHODS: the research instrument consisted of three questionnaires with closed and specific questions for the involved professionals, including pediatricians, gynecologists, obstetricians and nurses, in addition to the mothers of newborns from a maternity ward in the city of Maringá, Paraná, during the period between January to February 2005. RESULTS: it was observed in the questionnaire completed with the doctors that 100% described having knowledge of the baby's auditory health, 69% recommended otoacoustic emissions (OAE) 82% related that within the first three months it would be the ideal period for an auditory diagnosis and just 37% knew which were the exams to be performed. Among the nurses, 78% demonstrated having knowledge on early detection of hearing loss and 67% related having trained the parents to perform the (OAE). With regard to the importance of early detection of hearing loss, 22% did not answer or did not find it important. In the questionnaire completed with the mothers, 81% described not having received counseling regarding the diseases that alter auditory development, 72% did not have any knowledge regarding early detection of hearing loss. CONCLUSION: a reduced knowledge was found to be evident in this study, with regard to the early detection of hearing loss and neonatal auditory screening, by the people involved in this research.

O objetivo do trabalho foi estimar a prevalência de deficiência auditiva em crianças de hospital público de Belo Horizonte, Minas Gerais, Brasil, e investigar sua associação com fatores de risco descritos na literatura. O estudo transversal, retrospectivo, analisou 798 neonatos e lactentes, avaliados no Programa de Triagem Auditiva Neonatal Universal entre junho de 2002 e dezembro de 2003. Foram pesquisados os fatores de risco estabelecidos pelo Joint Committee on Infant Hearing em 1994, e por Azevedo em 1996, além da prematuridade. A prevalência de deficiência auditiva foi de 1,8% (15 casos). Foi realizada análise multivariada por regressão logística para verificação da associação entre fatores de risco e perda auditiva, que revelou associação estatisticamente significativa (valor p < 0,05) entre perda auditiva e: suspeita de surdez por parte dos familiares, hiperbilirrubinemia (exsangüíneo transfusão), medicação ototóxica, peso ao nascer menor que 1.500g. Confirma-se prevalência significativa de déficit auditivo em neonatos e lactentes; portanto, deve ser dada atenção aos fatores de risco que aumentam as chances de ocorrência do problema. Verifica-se a importância de programas de saúde auditiva que contemplem prevenção, diagnóstico precoce e intervenção.The objective of this study was to estimate the prevalence of hearing impairment in children in a public hospital in Belo Horizonte, Minas Gerais, Brazil, and to investigate the association with risk factors described in the literature. This study was cross-sectional and retrospective and analyzed 798 newborns and infants evaluated in the Universal Neonatal Hearing Screening Program from June 2002 to December 2003. The risk factors established by the Joint Committee on Infant Hearing in 1994 and Azevedo in 1996 were studied, besides prematurity. Prevalence of hearing impairment was 1.8% (15 cases). A multivariate logistic regression analysis was used to verify associations between risk factors and hearing impairment, showing a significant statistical association (p < 0.05) between hearing loss and suspicion of hearing loss by relatives, hyperbilirubinemia (serum level requiring exchange transfusion), ototoxic drugs, and low birth weight. A significant prevalence of hearing impairment in neonates and infants was confirmed. Attention should thus be focused on risk factors for hearing impairment, using hearing programs that ensure prevention, early detection, and intervention.

OBJETIVO: promover uma abordagem teórica dos aspectos relevantes a respeito da audição na infância e da detecção precoce da deficiência auditiva infantil. MÉTODOS: foi realizada pesquisa bibliográfica sobre a importância da audição no desenvolvimento infantil, o histórico da detecção precoce da deficiência auditiva infantil e a metodologia usual nos programas de triagem auditiva neonatal. O período de análise foi a partir de 1980 e os descritores utilizados foram deafness, hearing loss, hearing impairment and children. RESULTADOS: a audição é o elemento fundamental para a aquisição e desenvolvimento da linguagem. Muitos são os indicadores de risco que podem afetar a audição nos períodos pré e peri natal. Sendo a detecção precoce um fator determinante para o prognóstico de reabilitação, é de extrema importância a sua efetivação. Existem diferentes metodologias para a detecção da deficiência auditiva, porém os programas de triagem auditiva neonatal que utilizam emissões otoacústicas vêm demonstrando grande aceitação pela sua eficácia e praticidade. CONCLUSÃO: existem graves implicações da deficiência auditiva para o desenvolvimento infantil. A implementação dos programas de triagem auditiva neonatal pode garantir a detecção precoce, o diagnóstico e a reabilitação a tempo de minimizar os efeitos da deficiência auditiva sobre o indivíduo.PURPOSE: to promote a theoretical approach of the relevant aspects regarding the hearing in childhood and the early detection of the infantile hearing loss. METHODS: bibliographical research on the importance of hearing in infantile development, the description of the early detection of the hearing loss and usual methodology in the programs of newborn hearing screening was carried through. The period of analysis went from 1980 and the key-words were deafness, hearing loss, hearing impairment and children. RESULTS: the hearing is the basic element for the acquisition and development of language. Many are the risk indicators that can affect hearing in the pre and peri native periods. Being the early detection a determinative factor for the rehabilitation prognostic, its effectuation is of extreme importance. There are different methodologies for detecting hearing loss, however the programs of newborn hearing screening through otoacoustic emissions have been demonstrating effectiveness and feasibility. CONCLUSION: there are serious implications of hearing loss for infantile development. The implementation of the programs of newborn hearing screening can ensure early detection, diagnosis and rehabilitation in timely-manner to minimize the effect of hearing loss on the subject.