The History of Pediatric and Adult Hearing Screening.

OBJECTIVES/HYPOTHESIS: To document the history of hearing seeing in children and adults. STUDY DESIGN: A literature search in all languages was carried out with the terms of hearing screening from the following sources: Pub Med, Science Direct, World Catalog, Index Medicus, Google scholar, Google Books, National Library of Medicine, Welcome historical library and The Library of Congress. METHODS: The primary sources consisting of books, scientific reports, public documents, governmental reports, and other written material were analyzed to document the history of hearing screening. RESULTS: The concept of screening for medical conditions that, when found, could influence some form of the outcome of the malady came about during the end of 19th century. The first applications of screening were to circumscribe populations, schoolchildren, military personnel, and railroad employees. During the first half of the 20th century, screening programs were extended to similar populations and were able to be expanded on the basis of the improved technology of hearing testing. The concept of universal screening was first applied to the inborn errors of metabolism of newborn infants and particularly the assessment of phenylketonuria in 1963 by Guthrie and Susi. A limited use of this technique has been the detection of genes resulting in hearing loss. The use of a form of hearing testing either observational or physiological as a screen for all newborns was first articulated by Larry Fisch in 1957 and by the end of the 20th century newborn infant screening for hearing loss became the standard almost every nation worldwide. CONCLUSIONS: Hearing screening for newborn infants is utilized worldwide, schoolchildren less so and for adults many industrial workers and military service undergo hearing screening, but this is not a general practice for screening the elderly. LEVEL OF EVIDENCE: NA Laryngoscope, 131:S1-S25, 2021.

[Beginnings, evolution and current situation of the Newborn Screening Programs in Spain.] / Inicio, evolución y situación actual de los Programas de Cribado Neonatal en España.

Newborn Screening Programs (NSP) in Spain were born in the city of Granada in 1968. Till the 1980s, they were developed around the so-called "National Plan for Preventing Subnormality", covering up to 30% of the Spanish newborns. From 1982, when the health system management was transferred to the different autonomous regions, the NSP began to expand, and the bases to transform them into an organized and multidisciplinary activity, integrated and coordinated from the National Health System were settled. Despite this expansion, it is not until the 1990s when their coverage reaches almost 100% newborns in Spain. NSP grew up asymmetrically across the different autonomous regions. In 2005 and 2006 the scientific societies SEQC (Spanish Society of Clinical Chemistry) and AECNE (Spanish Society of Newborn Screening), coordinated by the Health Promotion Area of the General Directorate of Public Health, gathered together the necessary information to elaborate a report on the NSP in Spain addressed to the Interterritorial Council of the National Health System. In July 2013, that Council approved the seven diseases that should be part of each region newborn screening panel, being the first step towards the NSP harmonization in Spain. Currently, the NSP include between 8 and 29 diseases in their panels, thus more still more efforts are needed in order to achieve a higher uniformity.

Los Programas de Cribado Neonatal (PCN) nacen en España en Granada en el año 1968. Posteriormente, y hasta los años 80, se fueron desarrollando en torno al llamado "Plan Nacional de Prevención de la Subnormalidad" con una cobertura cercana al 30% de los recién nacidos españoles. A partir de 1982, con el inicio de la gestión de la sanidad a las comunidades autónomas (CCAA), los PCN se expandieron y se comenzaron a sentar las bases para que éstos se convirtieran en una actividad organizada y multidisciplinar, integrados y coordinados desde el Sistema de Salud. A pesar de dicha expansión no es hasta el inicio de la década de los 90 cuando se consigue una cobertura próxima al 100% de los RN en España. Los PCN fueron creciendo de forma muy asimétrica en las diferentes CCAA y en los años 2005 y 2006 las Sociedades Científicas SEQC (Sociedad Española de Química Clínica) y AECNE (Asociación Española de Cribado Neonatal), con la coordinación del Área de Promoción de la Salud de la Dirección General de Salud Pública, recopilaron la información y elaboraron un informe, sobre los PCN en España para el Consejo Interterritorial del sistema Nacional de Salud (CISNS). En julio de 2013 este Consejo aprobó las siete enfermedades que debían formar parte del panel de detección de los PCN territoriales, primer paso hacia la armonización de estos programas. Actualmente, los PCN incluyen entre 8 y 29 enfermedades por lo que es necesario seguir trabajando para conseguir una mayor uniformidad.

[Half a century of newborn screening in Spain: Evolution of ethical, legal and social issues (ELSIs). Part III, social issues.] / Medio siglo de cribado neonatal en España: evolución de los aspectos éticos, legales y sociales (AELS). Parte III, aspectos sociales.

Decision making for the development of newborn screening programs is based on not only medical but also social concerns and involves different stakeholders. Part III of the article focuses on their role in the governance of the programs. First of all, we consider the proactive role that health authorities has played in the evolution to an evidentiary model of policy development currently based on evidence, just as in the preparation of an expert, impartial and transparent opinion on health policy and its coordination with the national health system. And, in accordance with this evidence and with the consensus, health autorities following quality criteria have made an attempt to achieve a more homogeneous approach of the neonatal screening program throughout the territory. Secondly, we address the role of several scientific and professional societies in newborn screening. Among them, it deserves to be mentioned the Spanish Society for Clinical Chemistry, currently Spanish Society of Laboratory Medicine (SEQCML), and its Commission of inborn errors of metabolism and the Spanish Society for Newborn Screening (AECNE), which since 1985 and for thirty three years collected the activity of newborn screening centers and established a forum for debate, sharing of knowledge and cooperation among screening centers and with health authorities. Since 1999, the Spanish Society for Inborn Errors of Metabolism (AECOM) exercises an important activity in the field of diagnosis treatment and follow up of patients. Finally, we consider the role of families and the psychosocial aspects of the programme, and the associative activity of patient organizations. In 1990 the Spanish federation of PKU and other disorders (FAEPKU) was found, renamed currently as The Spanish Federation of Inherited Metabolic Diseases; together with the Spanish Federation for Rare Diseases (FEDER), found in 1999, they both have clearly contributed to the patient's empowerment, supporting research and education and establishing a network of cooperation and support for patients and their families. Patient organizations collaborate with health authorities but they have not participated in policy decision making yet. During this half century, the evolution of newborn screening programs have been characterized for a spirit of improvement, by including the development of ethical, legal and social issues. Important technological challenges lie ahead and it will be necessary to know how to use them efficiently, proportionally and fairly in the best interest of newborns and by extension of their family and society.

Las bases para la toma de decisiones acerca del desarrollo de los programas de cribado de Salud Pública no son exclusivamente médicas, sino también sociales. En esta parte III del artículo se contemplan los actores que intervienen en la gobernanza de los programas, cómo son las autoridades sanitarias, las sociedades científicas y profesionales, así como las familias y su movimiento asociativo. En primer lugar, se analiza el papel de las instituciones/autoridades sanitarias en el desarrollo de los programas y en la evolución del modelo para la toma de decisiones, hasta el actual basado en la evidencia, así como en la elaboración de una opinión experta, imparcial y transparente en política sanitaria y su coordinación en el marco del Sistema Nacional de Salud (SNS). Y, de acuerdo con dicha evidencia y con el consenso, las instituciones/autoridades sanitarias han tratado de conseguir un abordaje más homogéneo y conforme a criterios de calidad del programa de cribado neonatal en todo el territorio. A continuación, se aborda el papel de las sociedades científicas y profesionales, especialmente de la Sociedad Española de Química Clínica (actualmente Sociedad Española de Medicina de Laboratorio (SEQCML), a través de la Comisión de Errores Congénitos del Metabolismo, y de la Asociación Española de Cribado Neonatal (AECNE), que desde 1985 y durante 33 años recogieron los datos de actividad de los centros de cribado y establecieron un foro de debate, intercambio de conocimientos y colaboración entre ellos y con las autoridades sanitarias. De ellas, destaca el importante papel de la Asociación Española de Errores Congénitos del Metabolismo (AECOM) desde 1999 en el diagnóstico, seguimiento y tratamiento de los pacientes. Finalmente, se contempla el papel de las familias y los aspectos psicosociales del programa, así como la evolución del movimiento asociativo, con especial mención a la fundación en 1990 de la Federación Española de PKU y otros trastornos (FAEPKU) (que pasó después a llamarse la Federación Española de Enfermedades Metabólicas Hereditarias) y en 1999 de la Federación Española de Enfermedades Raras (FEDER). Estas asociaciones han contribuido notablemente al empoderamiento de los pacientes, a apoyar la investigación y la formación y a establecer una red de colaboración y soporte para los pacientes y sus familias. Y aunque están en contacto y colaboran con las autoridades sanitarias, hasta el momento no han participado en la elaboración de decisiones y en la gobernanza de los programas. El espíritu de superación y mejora ha marcado la evolución de los programas durante este medio siglo al incluir el desarrollo de sus aspectos éticos, legales y sociales. Se avecinan desafíos tecnológicos importantes y habrá que saber utilizarlos con eficiencia, proporcionalidad y justicia en el mejor interés del niño y, por extensión, de la familia y de la sociedad.

[50 years of the Neonatal Screening Program in Catalonia.] / 50 años del Programa de Cribado Neonatal en Cataluña.

The Catalonian Newborn Screening Program (CNSP) began in 1969, in Barcelona. It was promoted by Dr. Juan Sabater Tobella and supported by Barcelona Provincial Council and Juan March Foundation. That is how the Institute of Clinical Biochemistry was born, whose aims were diagnosis, research and teaching, along with the spirit of contributing to the prevention of mental retardation. The CNSP began with the detection of phenylketonuria (PKU), and, in 1982, the Program was expanded with the inclusion of congenital hypothyroidism detection. Towards 1990, the Program covered almost 100% of all newborns (NB) in Catalonia. In 1999, the CNSP was expanded with the incorporation of cystic fibrosis. It took fourteen years, until 2013, to make the largest expansion so far, with the incorporation of 19 metabolic diseases to the screening panel. The detection of sickle cell disease began in 2015 and in 2017 the detection of severe combined immunodeficiency was included. Currently, the CNSP includes 24 diseases in its main panel. Since 1969, 2,787,807 NBs have been screened, of whom 1,724 have been diagnosed with any of these diseases, and 252 of other disorders by differential diagnosis with those included in the main panel. The global prevalence is 1: 1,617 NBs affected by any of the diseases included in the CNSP and 1: 1,140 NBs if incidental findings diagnosed through the CNSP are included.

El Programa de Cribado Neonatal de Cataluña (PCNC) se inició en el año 1969, en Barcelona, impulsado por el Dr. Juan Sabater Tobella y apoyado por la Diputación de Barcelona y la Fundación Juan March. Así nació el Instituto de Bioquímica Clínica para acometer funciones asistenciales, de investigación y docencia, con el espíritu de contribuir a la prevención del retraso mental. El PCNC se inició con la detección de la fenilcetonuria (PKU) y en el año 1982 se amplió con la detección del hipotiroidismo congénito. Hacia el año 1990 la cobertura territorial llegó casi al 100% de todos los recién nacidos en Cataluña. En 1999 se amplió el PCNC con la incorporación de la fibrosis quística y tras catorce años, en 2013, se realizó la ampliación más numerosa hasta ahora, con la incorporación de la detección de 19 enfermedades metabólicas hereditarias. En el año 2015 comenzó la detección de la enfermedad de células falciformes y en el 2017 la detección de la inmunodeficiencia combinada grave. Actualmente, el PCNC incluye la detección de 24 enfermedades. Desde su inicio en el año 1969, se han cribado 2.787.807 recién nacidos, de los cuales 1.724 han sido diagnosticados de alguna de las 24 enfermedades que componen nuestro panel principal y 252 por diagnóstico diferencial de las primeras. En total la prevalencia global es de 1:1.617 RN afectos de alguna de las enfermedades incluidas en el PCNC y de 1:1.140 RN si se incluyen los hallazgos incidentales encontrados.

Fifteen years of newborn sickle cell disease screening in Madrid, Spain: an emerging disease in a European country.

Sickle cell disease (SCD) describes a set of chronic inherited anemias characterized by hemolysis, episodes of vaso-occlusion, and high infectious risk, with high morbidity and mortality. Newborn screening (NBS) for SCD allows family health education and early start of infectious prophylaxis. In the Community of Madrid, a pilot universal NBS study found that the SCA birth prevalence was 1/5851 in newborns, higher than expected, confirming the need to include early detection in the NBS program. The aim of the present prospective single-center study is to analyze the results of newborn SCD screening in Madrid in terms of epidemiological data and its inclusion in a comprehensive care program during the last 15 years, between 1st of May 2003 and 1st of May 2018. During the study period, 1,048,222 dried bloodspots were analyzed. One hundred ninety-seven patients were diagnosed with possible SCD (HPLC phenotype of FS, FSA, FSC, FSE, FSDPunjab, FSOArab), with 187 patients finally confirmed (birth prevalence 1/5552 newborns, 0.18 per 1000 live births), and 1 out of 213 infants carried Hb S. All of them were seen by a specialist clinician; median age at the first visit consultation was 35 days and median age at the beginning of penicillin treatment was 66 days. The Madrid SCD NBS program achieved high rates of sensitivity and specificity and good quality of care assistance. Establishing a good relationship with the family, a strong education program, and a multidisciplinary team that includes social workers and a psychologist are needed to ensure the success of early intervention.

50 años del Programa de Cribado Neonatal en Cataluña / 50 years of the Neonatal Screening Program in Catalonia

El Programa de Cribado Neonatal de Cataluña (PCNC) se inició en el año 1969, en Barcelona, impulsado por el Dr. Juan Sabater Tobella y apoyado por la Diputación de Barcelona y la Fundación Juan March. Así nació el Instituto de Bioquímica Clínica para acometer funciones asistenciales, de investigación y docencia, con el espíritu de contribuir a la prevención del retraso mental. El PCNC se inició con la detección de la fenilcetonuria (PKU) y en el año 1982 se amplió con la detección del hipotiroidismo congénito. Hacia el año 1990 la cobertura territorial llegó casi al 100% de todos los recién nacidos en Cataluña. En 1999 se amplió el PCNC con la incorporación de la fibrosis quística y tras catorce años, en 2013, se realizó la ampliación más numerosa hasta ahora, con la incorporación de la detección de 19 enfermedades metabólicas hereditarias. En el año 2015 comenzó la detección de la enfermedad de células falciformes y en el 2017 la detección de la inmunodeficiencia combinada grave. Actualmente, el PCNC incluye la detección de 24 enfermedades. Desde su inicio en el año 1969, se han cribado 2.787.807 recién nacidos, de los cuales 1.724 han sido diagnosticados de alguna de las 24 enfermedades que componen nuestro panel principal y 252 por diagnóstico diferencial de las primeras. En total la prevalencia global es de 1:1.617 RN afectos de alguna de las enfermedades incluidas en el PCNC y de 1:1.140 RN si se incluyen los hallazgos incidentales encontrados

The Catalonian Newborn Screening Program (CNSP) began in 1969, in Barcelona. It was promoted by Dr. Juan Sabater Tobella and supported by Barcelona Provincial Council and Juan March Foundation. That is how the Institute of Clinical Biochemistry was born, whose aims were diagnosis, research and teaching, along with the spirit of contributing to the prevention of mental retardation. The CNSP began with the detection of phenylketonuria (PKU), and, in 1982, the Program was expanded with the inclusion of congenital hypothyroidism detection. Towards 1990, the Program covered almost 100% of all newborns (NB) in Catalonia. In 1999, the CNSP was expanded with the incorporation of cystic fibrosis. It took fourteen years, until 2013, to make the largest expansion so far, with the incorporation of 19 metabolic diseases to the screening panel. The detection of sickle cell disease began in 2015 and in 2017 the detection of severe combined immunodeficiency was included. Currently, the CNSP includes 24 diseases in its main panel. Since 1969, 2,787,807 NBs have been screened, of whom 1,724 have been diagnosed with any of these diseases, and 252 of other disorders by differential diagnosis with those included in the main panel. The global prevalence is 1: 1,617 NBs affected by any of the diseases included in the CNSP and 1: 1,140 NBs if incidental findings diagnosed through the CNSP are included

Cincuenta años de cribado neonatal de enfermedades congénitas en España / Fifty years of neonatal screening for congenital diseases in Spain

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Universal newborn screening: A roadmap for action.

Newborn screening (NBS) prevents morbidity and mortality by screening babies for selected disorders in the first days of life so that early diagnosis and treatment can be initiated. Congenital disorders impact an estimated 8 million or 6% of annual births worldwide, and of the top five that contribute 25% to the global burden of these disorders, three can be identified and managed by NBS. There are determined pockets of activity in Latin America, Sub-Saharan Africa, and the Asia Pacific region, where partnerships among government, non-governmental organizations, academia, the private sector and civil society are developing novel NBS programs that are both saving lives and preventing disability in those who survive.

Analysis of the changes in the Polish Universal Neonatal Hearing Screening Program over 15 years of activity.

INTRODUCTION: One of the examples of a nationwide pro-health program in Poland is the Polish Universal Neonatal Hearing Screening Program (PUNHSP). The Program is aimed at early diagnosis and intervention in children with hearing impairments and it is an example of a well-managed program. Presenting the results of the PUNHSP activity as well as organizational aspects and own experience can significantly help institutions managing other programs to achieve high efficiency in their functioning. The aim of this work is a detailed analysis of the Program evaluation during the 15 years of its activity, i.e. the identification of changes and the consequences of their introduction in the perspective of improving quality and efficiency. MATERIALS AND METHODS: The material is PUNHSP data, registered in the Central Database of the Program and organizational information related to management, IT support and PUNHSP infrastructure. The analysis was based on quality assessment parameters (identification of changes and the purpose of their introduction) and effectiveness (consequences of introducing changes). The analysis concerns the whole period of PUNHSP activity - from 2002 to 2017. RESULTS: As a result of the analysis, 13 main modifications of the Program were identified as the "change" criteria and 11 smaller ones - side ones resulting from the necessity to adapt the PUNHSP functionality to current needs. The changes were grouped into five categories: legal, administrative, management, audit and control, as well as IT, changes. DISCUSSION: When analyzing the PUNHSP evaluation, it can be assumed that the changes introduced positively influenced the various aspects of the PUNHSP activity, but do not exhaust the possibilities of further optimization of its activity. CONCLUSIONS: The Program requires constant development in order to increase the efficiency and effectiveness of its operation, and the solutions used in it could be a stimulus to improve and create other pro-health programs.

Screening for Duchenne muscular dystrophy in Germany, 1977-2011: A personal story.

EDITOR'S NOTE: This article by Dr. Günter Scheuerbrandt is a fascinating personal account and historical narrative of the birth and development of a screening program for Duchenne Muscular Dystrophy in Germany, beginning 40 years ago. As the author notes, approval of an institutional review board or ethics committee was not required for this type of scientific investigation in one's field at the time this program was begun, but we have removed all personal data from any of the materials presented in here in order to conform to current concepts of ethical publication. This article is about the screening of 528,410, mostly 4-6-week-old, boys in Germany between 1977 and 2011 for high levels of creatine kinase (CK) to identify those with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). During these 34 years of infant screening, 147 boys with confirmed, probable, and possible DMD (incidence 1:3,600 male births) and 33 boys with confirmed, probable, and possible BMD (incidence 1:15,500 male births) were found. Research reports about DMD were sent to families and pediatricians participating in the screening, and, on request, to families and scientists everywhere. It is hoped that screening programs used as the basis for future therapies will be able to modify the natural history of boys with DMD. New dystrophin mutations will continue to occur, necessitating screening and early therapy. Abstract Submitted for Presentation at the 10th International Society for Neonatal Screening-Asia Pacific Regional Meeting, August 2017, Ulaanbataar, Mongolia. Muscle Nerve 57: 185-188, 2018.

Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice.

The primary objective of population-based newborn screening is the early identification of asymptomatic infants with a range of severe diseases, for which effective treatment is available and where early diagnosis and intervention prevent serious sequelae. Primary immunodeficiency diseases (PID) are a heterogeneous group of inborn errors of immunity. Severe combined immunodeficiency (SCID) is one form of PID which is uniformly fatal without early, definitive therapy, and outcomes are significantly improved if infants are diagnosed and treated within the first few months of life. Screening for SCID using T cell receptor excision circle (TREC) analysis has been introduced in many countries worldwide. The utility of additional screening with kappa recombining excision circles (KREC) has also been described, enabling identification of infants with severe forms of PID manifested by T and B cell lymphopenia. Here, we review the early origins of newborn screening and the evolution of screening methodologies. We discuss current strategies employed in newborn screening programs for PID, including TREC and TREC/KREC-based screening, and consider the potential future role of protein-based assays, targeted sequencing, and next generation sequencing (NGS) technologies, including whole genome sequencing (WGS).

A Historical and Current Review of Newborn Screening for Neuromuscular Disorders From Around the World: Lessons for the United States.

BACKGROUND: We aimed to review the history of newborn screening for three neuromuscular disorders (Duchenne muscular dystrophy, Pompe disease, and spinal muscular atrophy [SMA]) to determine best practices. METHODS: The history of newborn screening for Duchenne muscular dystrophy began in 1975 with the measurement of creatinine kinase on newborn male blood spots from two Midwestern hospitals in the United States. Over the next 40 years, ten programs were implemented around the globe although none currently remain. The first experimental pilot program for Pompe disease began in 2005 in Taiwan. In 2013, Missouri was the first US state to implement Pompe newborn screening before its inclusion in the Recommended Uniform Screening Panel (RUSP) in 2015 by the Advisory Committee on Heritable Disorders in Newborns and Children (United States). In 2008, SMA was reviewed and rejected for inclusion in the RUSP because no treatment existed. With the approval of nusinersen in late 2016, spinal muscular atrophy is being reconsidered for the RUSP. RESULTS: A condition should meet public health screening criteria to be included in the RUSP. Duchenne muscular dystrophy, Pompe, and SMA challenge traditional screening criteria: Duchenne muscular dystrophy does not present in infancy and lacks effective treatment; Pompe and SMA may not present until adulthood; and safety and efficacy of long-term intrathecal treatment for SMA is unknown. Potential reproductive benefit and improved research recruitment do not justify a public health screening program. CONCLUSIONS: This review provides lessons that could benefit US public health departments as they consider expanding screening to include neuromuscular disorders like Duchenne muscular dystrophy, Pompe, and SMA.