Disease progression in Sanfilippo type B: Case series of Brazilian patients.

Mucopolysaccharidosis type IIIB (MPS IIIB) is caused by deficiency of alpha-N-acetylglucosaminidase, leading to storage of heparan sulphate. The disease is characterized by intellectual disability and hyperactivity, among other neurological and somatic features. Here we studied retrospective data from a total of 19 MPS IIIB patients from Brazil, aiming to evaluate disease progression. Mean age at diagnosis was 7.2 years. Speech delay was one of the first symptoms to be identified, around 2-3 years of age. Behavioral alterations include hyperactivity and aggressiveness, starting around age four. By the end of the first decade, patients lost acquired abilities such as speech and ability to walk. Furthermore, as disease progresses, respiratory, cardiovascular and joint abnormalities were found in more than 50% of the patients, along with organomegaly. Most common cause of death was respiratory problems. The disease progression was characterized in multiple systems, and hopefully these data will help the design of appropriate clinical trials and clinical management guidelines.

Clusters of oculocutaneous albinism in isolated populations in Brazil: A community genetics challenge.

Oculocutaneous albinism (OCA) is a heterogeneous group of genetic disorders involving deficiencies in melanin biosynthesis, with consequent skin, hair, and eye hypopigmentation. The world prevalence is estimated at 1/17,000, but there is high variability among populations. The affected individuals, besides clinical complications, can suffer from discrimination. The Brazilian population is highly admixed, with isolated and inbred communities. Previous reports indicated the presence of diverse isolated communities with a high prevalence of OCA in Brazil. The present work sought to review and characterize clusters of albinism in this country based on scientific literature search, newspapers, and websites. We identified and characterized 18 clusters, 13 confirmed by scientific studies. Seven clusters are in the Northeast region, with predominant African ancestry, and seven others in indigenous communities, particularly among the Kaingaing in South Brazil. Isolation and inbreeding associated with founder effects seem to be the most plausible explanation. Molecular studies and clinical classification are still limited. Their localization in deprived regions with poor infrastructure makes them particularly vulnerable to the social and clinical consequences of lacking melanin. We reinforce the need for a tailored approach to these communities, including appropriate medical care, social support, and genetic counselling.

Clusters of rare disorders and congenital anomalies in South America.

Objective: To map geographic clusters of rare disorders and congenital anomalies reported in South America. Methods: Qualitative systematic review conducted in Medline/PubMed, Lilacs, and Scielo electronic databases to identify studies meeting eligibility criteria. The strategy resulted in 1 672 unique articles, from which 164 were selected for full reading by a pair of reviewers. Results: Fifty-five articles reported at least one cluster of genetic disorders or congenital anomalies in South American territory. From these papers, 122 clusters were identified, of which half (61) were related to autosomal recessive disorders. Sixty-five (53.3%) of the clusters were located in Brazil. Conclusions: The results of the review reinforce that rare diseases and congenital anomalies can occur in a non-random way in space, which is discussed in the perspective of the complex history of formation, social organization, and genetic structure of the South American population. Mapping clusters in population medical genetics can be an important public health tool, given that such places concentrate cases of rare diseases that frequently require multiprofessional, specialized care. Therefore, these results can support important agendas in public health related to rare diseases and congenital anomalies, such as health promotion and surveillance.

Clusters of rare disorders and congenital anomalies in South America

[ABSTRACT]. Objective. To map geographic clusters of rare disorders and congenital anomalies reported in South America. Methods. Qualitative systematic review conducted in Medline/PubMed, Lilacs, and Scielo electronic data- bases to identify studies meeting eligibility criteria. The strategy resulted in 1 672 unique articles, from which 164 were selected for full reading by a pair of reviewers. Results. Fifty-five articles reported at least one cluster of genetic disorders or congenital anomalies in South American territory. From these papers, 122 clusters were identified, of which half (61) were related to autoso- mal recessive disorders. Sixty-five (53.3%) of the clusters were located in Brazil. Conclusions. The results of the review reinforce that rare diseases and congenital anomalies can occur in a non-random way in space, which is discussed in the perspective of the complex history of formation, social organization, and genetic structure of the South American population. Mapping clusters in population medical genetics can be an important public health tool, given that such places concentrate cases of rare diseases that frequently require multiprofessional, specialized care. Therefore, these results can support important agendas in public health related to rare diseases and congenital anomalies, such as health promotion and surveillance.

[RESUMEN]. Objetivo. Trazar los conglomerados geográficos de los trastornos y las malformaciones congénitas poco frecuentes notificados en América del Sur. Métodos. Se realizó una revisión sistemática cualitativa en las bases de datos electrónicas Medline/PubMed, Lilacs y Scielo para encontrar los estudios que cumplieran con los criterios de selección. Se encontraron 1672 artículos originales, de los que se seleccionaron 164 para su lectura completa por un par de revisores. Resultados. En 55 artículos se informó de al menos un conglomerado de trastornos genéticos o malforma- ciones congénitas en América del Sur. A partir de estos artículos, se encontraron 122 conglomerados, de los cuales la mitad (61) se asociaron con trastornos autosómicos recesivos. Sesenta y cinco (53,3%) de los conglomerados se ubicaron en Brasil. Conclusiones. Los resultados de la revisión confirman que las enfermedades raras y las malformaciones congénitas pueden presentarse de una forma no aleatoria en el espacio, lo que se comenta desde la per- spectiva de la complejidad histórica del proceso de formación, organización social y estructura genética de la población de América del Sur. Definir geográficamente los conglomerados en la genética médica pobla- cional puede ser una importante herramienta de salud pública, ya que en esos lugares se concentran casos de enfermedades raras que suelen requerir una atención especializada y multidisciplinaria. Por lo tanto, estos resultados pueden servir de apoyo a importantes programas de salud pública relacionados con las enferme- dades raras y las malformaciones congénitas como, por ejemplo, la promoción de la salud y la vigilancia.

[RESUMO]. Objetivo. Mapear agrupamentos geográficos de doenças raras e anomalias congênitas relatados na América do Sul. Métodos. Revisão sistemática qualitativa realizada nas bases de dados eletrônicos Medline/PubMed, Lilacs e Scielo para identificar estudos que atendessem aos critérios de elegibilidade. A estratégia resultou em 1.672 artigos únicos, dos quais 164 foram selecionados para leitura completa por uma dupla de revisores. Resultados. Cinquenta e cinco artigos relataram pelo menos um agrupamento de distúrbios genéticos ou anomalias congênitas no território sul-americano. A partir desses artigos, foram identificados 122 agrupamen- tos, dos quais metade (61) estava relacionada a doenças autossômicas recessivas. Sessenta e cinco (53,3%) dos agrupamentos estavam localizados no Brasil. Conclusões. Os resultados da revisão reforçam a observação de que doenças raras e anomalias congênitas podem ocorrer de forma não aleatória no espaço, o que é discutido na perspectiva da complexa história de formação, organização social e estrutura genética da população sul-americana. O mapeamento de agrupa- mentos em genética médica populacional pode ser uma importante ferramenta de saúde pública, visto que esses locais concentram casos de doenças raras que frequentemente requerem atendimento multiprofissional especializado. Portanto, esses resultados podem apoiar importantes agendas de saúde pública relacionadas a doenças raras e anomalias congênitas, como a vigilância e a promoção da saúde.

Clusters of rare disorders and congenital anomalies in South America / Conglomerados de trastornos y malformaciones congénitas poco frecuentes en América del Sur / Agrupamentos de doenças raras e anomalias congênitas na América do Sul

ABSTRACT Objective. To map geographic clusters of rare disorders and congenital anomalies reported in South America. Methods. Qualitative systematic review conducted in Medline/PubMed, Lilacs, and Scielo electronic databases to identify studies meeting eligibility criteria. The strategy resulted in 1 672 unique articles, from which 164 were selected for full reading by a pair of reviewers. Results. Fifty-five articles reported at least one cluster of genetic disorders or congenital anomalies in South American territory. From these papers, 122 clusters were identified, of which half (61) were related to autosomal recessive disorders. Sixty-five (53.3%) of the clusters were located in Brazil. Conclusions. The results of the review reinforce that rare diseases and congenital anomalies can occur in a non-random way in space, which is discussed in the perspective of the complex history of formation, social organization, and genetic structure of the South American population. Mapping clusters in population medical genetics can be an important public health tool, given that such places concentrate cases of rare diseases that frequently require multiprofessional, specialized care. Therefore, these results can support important agendas in public health related to rare diseases and congenital anomalies, such as health promotion and surveillance.

RESUMEN Objetivo. Trazar los conglomerados geográficos de los trastornos y las malformaciones congénitas poco frecuentes notificados en América del Sur. Métodos. Se realizó una revisión sistemática cualitativa en las bases de datos electrónicas Medline/PubMed, Lilacs y Scielo para encontrar los estudios que cumplieran con los criterios de selección. Se encontraron 1672 artículos originales, de los que se seleccionaron 164 para su lectura completa por un par de revisores. Resultados. En 55 artículos se informó de al menos un conglomerado de trastornos genéticos o malformaciones congénitas en América del Sur. A partir de estos artículos, se encontraron 122 conglomerados, de los cuales la mitad (61) se asociaron con trastornos autosómicos recesivos. Sesenta y cinco (53,3%) de los conglomerados se ubicaron en Brasil. Conclusiones. Los resultados de la revisión confirman que las enfermedades raras y las malformaciones congénitas pueden presentarse de una forma no aleatoria en el espacio, lo que se comenta desde la perspectiva de la complejidad histórica del proceso de formación, organización social y estructura genética de la población de América del Sur. Definir geográficamente los conglomerados en la genética médica poblacional puede ser una importante herramienta de salud pública, ya que en esos lugares se concentran casos de enfermedades raras que suelen requerir una atención especializada y multidisciplinaria. Por lo tanto, estos resultados pueden servir de apoyo a importantes programas de salud pública relacionados con las enfermedades raras y las malformaciones congénitas como, por ejemplo, la promoción de la salud y la vigilancia.

RESUMO Objetivo. Mapear agrupamentos geográficos de doenças raras e anomalias congênitas relatados na América do Sul. Métodos. Revisão sistemática qualitativa realizada nas bases de dados eletrônicos Medline/PubMed, Lilacs e Scielo para identificar estudos que atendessem aos critérios de elegibilidade. A estratégia resultou em 1.672 artigos únicos, dos quais 164 foram selecionados para leitura completa por uma dupla de revisores. Resultados. Cinquenta e cinco artigos relataram pelo menos um agrupamento de distúrbios genéticos ou anomalias congênitas no território sul-americano. A partir desses artigos, foram identificados 122 agrupamentos, dos quais metade (61) estava relacionada a doenças autossômicas recessivas. Sessenta e cinco (53,3%) dos agrupamentos estavam localizados no Brasil. Conclusões. Os resultados da revisão reforçam a observação de que doenças raras e anomalias congênitas podem ocorrer de forma não aleatória no espaço, o que é discutido na perspectiva da complexa história de formação, organização social e estrutura genética da população sul-americana. O mapeamento de agrupamentos em genética médica populacional pode ser uma importante ferramenta de saúde pública, visto que esses locais concentram casos de doenças raras que frequentemente requerem atendimento multiprofissional especializado. Portanto, esses resultados podem apoiar importantes agendas de saúde pública relacionadas a doenças raras e anomalias congênitas, como a vigilância e a promoção da saúde.

Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.

Mucopolysaccharidosis type IIIB is a rare autosomal recessive disorder characterized by deficiency of the enzyme N-acetyl-alpha-d-glucosaminidase (NAGLU), caused by biallelic pathogenic variants in the NAGLU gene, which leads to storage of heparan sulfate and a series of clinical consequences which hallmark is neurodegeneration. In this study clinical, epidemiological, and biochemical data were obtained from MPS IIIB patients diagnosed from 2004-2019 by the MPS Brazil Network ("Rede MPS Brasil"), which was created with the goal to provide an easily accessible and comprehensive investigation of all MPS types. One hundred and ten MPS IIIB patients were diagnosed during this period. Mean age at diagnosis was 10.9 years. Patients were from all over Brazil, with a few from abroad, with a possible cluster of MPS IIIB identified in Ecuador. All patients had increased urinary levels of glycosaminoglycans and low NAGLU activity in blood. Main clinical symptoms reported at diagnosis were coarse facies and neurocognitive regression. The most common variant was p.Leu496Pro (30% of alleles). MPS IIIB seems to be relatively frequent in Brazil, but patients are diagnosed later than in other countries, and reasons for that probably include the limited awareness about the disease by health professionals and the difficulties to access diagnostic tests, factors that the MPS Brazil Network is trying to mitigate.

National congenital anomaly registers in the world: historical and operational aspects. / Registros nacionais de anomalias congênitas no mundo: aspectos históricos e operacionais.

OBJECTIVE: To identify registers of congenital anomalies with national coverage currently available around the world, highlighting their main historical and operational characteristics. METHODS: This was a documentary study by means of a Medline database search (via PubMed) and searches involving reports, official documents and websites. Studies reporting at least one national registry were included. RESULTS: 40 registers of national congenital anomalies were identified in 39 different countries. All registers included in the study were concentrated in upper-middle or high-income countries located in Europe. Most of the registers were population-based, compulsory notification and with a time limit for notification of up to 1 year of age. The Brazilian register showed the highest annual coverage. CONCLUSION: The registers analyzed showed different characteristics, related to the reality of each country. The results presented provide support for the theme of congenital anomalies surveillance, especially in places where such activity is intended to be implemented.

National registries of congenital anomalies in the world: historical and operational aspects / Registros nacionales de anomalías congénitas en el mundo: aspectos históricos y operativos / Registros nacionais de anomalias congênitas no mundo: aspectos históricos e operacionais

Objective: To identify registries of congenital anomalies with national coverage existing around the world, highlighting its main historical and operational characteristics. Methods: Document review of literature on the Medline/Pubmed database and data from reports, official documents and websites. Works relating at least one national register were included. Results: 40 national registries of congenital anomalies were identified in 39 different countries. All registries included in the study were located in high- or uppermiddle-income countries, with a concentration in Europe. Most of the registries were population-based, with mandatory notification and time limit of notification of up to one year of age. The Brazilian registry presented the highest annual coverage. Conclusion: The registries discussed here presented different characteristics, which were related to the reality of each country. The presented results provide subsidies for surveillance of congenital anomalies, especially in places that wish to implement such an activity.

Objetivo: Identificar registros de anomalias congênitas com cobertura nacional existentes no mundo, destacando suas principais características históricas e operacionais. Métodos: Revisão documental, mediante busca na base Medline/Pubmed e consulta a dados provenientes de relatórios, documentos oficiais e sítios eletrônicos. Foram incluídos trabalhos com relato de pelo menos um registro nacional. Resultados: Identificou-se 40 registros nacionais de anomalias congênitas em 39 países diferentes. Todos os registros incluídos no estudo localizavam-se em países de renda alta ou média superior, com concentração na Europa. A maior parte dos registros foi de base populacional, de notificação compulsória e com tempo limite para notificação de até um ano de idade. O registro brasileiro apresentou a maior cobertura anual. Conclusão: Os registros discutidos apresentaram características diversas, relacionadas à realidade de cada país. Os resultados apresentados fornecem subsídios para a temática da vigilância das anomalias congênitas, sobretudo em locais onde se deseja implementar tal atividade.

Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.

Mucopolysaccharidosis type II (MPS II) is an X-linked inherited disease caused by pathogenic variants in the IDS gene, leading to deficiency of the lysosomal enzyme iduronate-2-sulfatase and consequent widespread storage of glycosaminoglycans, leading to several clinical consequences, with progressive manifestations which most times includes cognitive decline. MPS II has wide allelic and clinical heterogeneity and a complex genotype-phenotype correlation. We evaluated data from 501 Brazilian patients diagnosed with MPS II from 1982 to 2020. We genotyped 280 of these patients (55.9%), which were assigned to 206 different families. Point mutations were present in 70% of our patients, being missense variants the most frequent. We correlated the IDS pathogenic variants identified with the phenotype (neuronophatic or non-neuronopathic). Except for two half-brothers, there was no discordance in the genotype-phenotype correlation among family members, nor among MPS II patients from different families with the same single base-pair substitution variant. Mothers were carriers in 82.0% of the cases. This comprehensive study of the molecular profile of the MPS II cases in Brazil sheds light on the genotype-phenotype correlation and helps the better understanding of the disease and the prediction of its clinical course, enabling the provision of a more refined genetic counseling to the affected families.

Prevalence of congenital anomalies at birth among live births in the state of Maranhão from 2001 to 2016: temporal and spatial analysis.

OBJECTIVES: To analyze the prevalence at birth and the spatial and temporal distribution of congenital anomalies (CAs) among live births in the state of Maranhão in 2001 to 2016. To describe demographic, gestational and neonatal variables of interest. METHODS: Ecological, population-based study, using secondary data from the Live Birth Information System (SINASC). Annual prevalence of total and per-group CAs was calculated. Spatial analyzes were based on the Local Indicators of Spatial Association (LISA) and the Moran I Index, and interactive maps were generated. Demographic, gestational and neonatal variables of interest available from SINASC were described in the group of newborns with CAs. RESULTS: 1,831,830 live births, 6,110 with CAs (33.4/10,000) were included. Higher frequencies occurred in more recent years. Spatial clusters have been observed in specific years. The prevalence of newborns with CAs was different between categories of variables considered as risk factors for this outcome. CONCLUSION: The prevalence at birth of total CAs was lower than expected for major human defects (3%). The temporal peak of records in 2015/2016 is probably related to the increase in CAs caused by gestational infection by the Zika virus. The spatial clusters were probably due to variations at random due to the small number of births as they are not repeated in other years. Studies like this are the basis for the establishment of CA surveillance programs.

List of priority congenital anomalies for surveillance under the Brazilian Live Birth Information System. / Lista de anomalias congênitas prioritárias para vigilância no âmbito do Sistema de Informações sobre Nascidos Vivos do Brasil.

OBJECTIVE: To define the list of priority congenital anomalies for improving their recording on the Brazilian Live Birth Information System (Sinasc). METHODS: Based on the International Statistical Classification of Diseases and Related Health Problems, Tenth Revision (ICD-10), international protocols and meetings with specialists, the list of priority anomalies was built considering two main criteria: being diagnosable at birth and having intervention available at different levels. The list was submitted for consideration by the Brazilian Medical Genetics and Genomics Society. RESULTS: The list comprised eight groups of congenital anomalies distributed according to the type of related anomaly, as well as the affected part of the body and its corresponding code in ICD-10 Chapter XVII. CONCLUSION: The list of priority congenital anomalies for notification provides a basis for improving case recording on Sinasc.

List of priority congenital anomalies for surveillance under the Brazilian Information System on Live Births / Lista de anomalías congénitas prioritarias para la vigilancia bajo el Sistema de Información sobre Nacimientos Vivos en Brasil / Lista de anomalias congênitas prioritárias para vigilância no âmbito do Sistema de Informações sobre Nascidos Vivos do Brasil

Objective: To define the list of priority congenital anomalies for improving the registration in the Brazilian Live Birth Information System (Sinasc). Methods: Based on International Classification of Diseases, Tenth Revision (ICD-10), internation protocols and meetings with specialists, the list of priority anomalies was built considering two main criteria: being diagnosable at birth and having intervention available at different levels. The list was submitted for consideration by the Brazilian Society of Medical Genetics and Genomics. Results: The list comprised eight groups of congenital anomalies distributed according to the type of anomaly related, as well as the affect body part, all of which were related to some code of chapter XVII of ICD-10. Conclusion: The list of priority congenital anomalies for notification provides subsidies for improving registration at Sinasc.

Objetivo: Definir a lista de anomalias congênitas prioritárias para o aprimoramento do registro no Sistema de Informações sobre Nascidos Vivos (Sinasc). Métodos: A partir da Décima Revisão da Classificação Estatística Internacional de Doenças e Problemas Relacionados à Saúde (CID-10), protocolos internacionais e reuniões com especialistas, a lista de anomalias prioritárias foi construída considerando-se dois critérios principais: ser diagnosticável ao nascimento; e possuir intervenção disponível em diferentes níveis. A lista foi submetida a apreciação da Sociedade Brasileira de Genética Médica e Genômica. Resultados: Compuseram a lista oito grupos de anomalias distribuídos de acordo com o tipo de anomalia relacionada, bem como a parte do corpo afetada e sua correspondência ao código do capítulo XVII da CID-10. Conclusão: A lista de anomalias congênitas prioritárias para notificação fornece subsídios para o aprimoramento do registro no Sinasc.

An invincible memory: what surname analysis tells us about history, health and population medical genetics in the Brazilian Northeast.

Several studies have shown that the Brazilian Northeast is a region with high rates of inbreeding as well as a high incidence of autosomal recessive diseases. The elaboration of public health policies focused on the epidemiological surveillance of congenital anomalies and rare genetic diseases in this region is urgently needed. However, the vast territory, socio-demographic heterogeneity, economic difficulties and low number of professionals with expertise in medical genetics make strategic planning a challenging task. Surnames can be compared to a genetic system with multiple neutral alleles and allow some approximation of population structure. Here, surname analysis of more than 37 million people was combined with health and socio-demographic indicators covering all 1794 municipalities of the nine states of the region. The data distribution showed a heterogeneous spatial pattern (Global Moran Index, GMI = 0.58; p < 0.001), with higher isonymy rates in the east of the region and the highest rates in the Quilombo dos Palmares region - the largest conglomerate of escaped slaves in Latin America. A positive correlation was found between the isonymy index and the frequency of live births with congenital anomalies (r = 0.268; p < 0.001), and the two indicators were spatially correlated (GMI = 0.50; p < 0.001). With this approach, quantitative information on the genetic structure of the Brazilian Northeast population was obtained, which may represent an economical and useful tool for decision-making in the medical field.

Registros nacionais de anomalias congênitas no mundo: aspectos históricos e operacionais / Registros nacionales de anomalías congénitas en el mundo: aspectos históricos y operativos / National congenital anomaly registers in the world: historical and operational aspects

Objetivo: Identificar registros de anomalias congênitas com cobertura nacional existentes no mundo, destacando suas principais características históricas e operacionais. Métodos: Revisão documental, mediante busca na base Medline/Pubmed e consulta a dados provenientes de relatórios, documentos oficiais e sítios eletrônicos. Foram incluídos trabalhos com relato de pelo menos um registro nacional. Resultados: Foram identificados 40 registros nacionais de anomalias congênitas em 39 países diferentes. Todos os registros incluídos no estudo localizavam-se em países de renda alta ou média superior, com concentração na Europa. A maior parte dos registros foi de base populacional, de notificação compulsória e com tempo limite para notificação de até 1 ano de idade. O registro brasileiro apresentou a maior cobertura anual. Conclusão: Os registros discutidos apresentaram características diversas, relacionadas à realidade de cada país. Os resultados apresentados fornecem subsídios para a temática da vigilância das anomalias congênitas, sobretudo em locais onde se deseja implementar tal atividade.

Objetivo: Identificar registros de anomalías congénitas con cobertura nacional existentes en el mundo, destacando sus principales características históricas y operativas. Métodos: Revisión documental de literatura en la base de datos Medline/Pubmed y datos de informes, documentos oficiales y sitios web. Se incluyeron trabajos con informes de al menos un registro nacional. Resultados: Se identificaron 40 registros nacionales de anomalías congénitas en 39 países diferentes. Todos los registros incluidos se ubicaron en países de ingresos altos y medianos altos, con una concentración en Europa. La mayoría de los registros eran de base poblacional, con notificación obligatoria y un límite de tiempo de notificación de hasta 1 año. El registro brasileño presentá la cobertura anual más alta. Conclusión: Los registros discutidos presentaban características diferentes y relacionadas con la realidad de cada país. Los resultados presentados proporcionan subsidios para la vigilancia de anomalías congénitas, especialmente en lugares que deseen implementar dicha actividad.

Objective: To identify registers of congenital anomalies with national coverage currently available around the world, highlighting their main historical and operational characteristics. Methods: This was a documentary study by means of a Medline database search (via PubMed) and searches involving reports, official documents and websites. Studies reporting at least one national registry were included. Results: 40 registers of national congenital anomalies were identified in 39 different countries. All registers included in the study were concentrated in upper-middle or high-income countries located in Europe. Most of the registers were population-based, compulsory notification and with a time limit for notification of up to 1 year of age. The Brazilian register showed the highest annual coverage. Conclusion: The registers analyzed showed different characteristics, related to the reality of each country. The results presented provide support for the theme of congenital anomalies surveillance, especially in places where such activity is intended to be implemented.

Prevalence of congenital anomalies at birth among live births in the state of Maranhão from 2001 to 2016: temporal and spatial analysis / Prevalências ao nascimento de anomalias congênitas entre nascidos vivos no estado do Maranhão de 2001 a 2016: análise temporal e espacial

ABSTRACT: Objectives: To analyze the prevalence at birth and the spatial and temporal distribution of congenital anomalies (CAs) among live births in the state of Maranhão in 2001 to 2016. To describe demographic, gestational and neonatal variables of interest. Methods: Ecological, population-based study, using secondary data from the Live Birth Information System (SINASC). Annual prevalence of total and per-group CAs was calculated. Spatial analyzes were based on the Local Indicators of Spatial Association (LISA) and the Moran I Index, and interactive maps were generated. Demographic, gestational and neonatal variables of interest available from SINASC were described in the group of newborns with CAs. Results: 1,831,830 live births, 6,110 with CAs (33.4/10,000) were included. Higher frequencies occurred in more recent years. Spatial clusters have been observed in specific years. The prevalence of newborns with CAs was different between categories of variables considered as risk factors for this outcome. Conclusion: The prevalence at birth of total CAs was lower than expected for major human defects (3%). The temporal peak of records in 2015/2016 is probably related to the increase in CAs caused by gestational infection by the Zika virus. The spatial clusters were probably due to variations at random due to the small number of births as they are not repeated in other years. Studies like this are the basis for the establishment of CA surveillance programs.

RESUMO: Objetivos: Analisar as prevalências ao nascimento e a distribuição espacial e temporal das anomalias congênitas (ACs) entre nascidos vivos no estado do Maranhão nos anos de 2001 a 2016; descrever variáves de interesse demográficas, gestacionais e neonatais. Métodos: Estudo ecológico, de base populacional, a partir de dados secundários do Sistema de Informações sobre Nascidos Vivos (SINASC). Foram calculadas prevalências ao nascimento anuais de ACs totais e por grupos. Análises espaciais utilizaram o cálculo de Indicadores Locais de Associação Espacial (LISA) e o Índice Global de Moran I, e mapas interativos foram gerados. Variáveis de interesse demográficos, gestacionais e neonatais disponíveis no SINASC foram descritas no grupo dos recém-nascidos com ACs. Resultados: Neste estudo, foram incluídos 1.831.830 nascidos vivos, 6.110 com ACs (33,4/10 mil). Maiores frequências ocorreram nos anos mais recentes. Aglomerados espaciais foram observados em anos específicos. As prevalências de nascidos vivos com anomalias foram diferentes entre categorias de variáveis consideradas como fatores de risco para esse desfecho. Conclusão: A prevalência ao nascimento de nascidos com ACs foi inferior ao esperado para defeitos maiores na espécie humana (3%). O pico temporal de registros em 2015/2016 está provavelmente relacionado ao aumento de microcefalia causada pela infecção gestacional por vírus Zika. Os aglomerados espaciais provavelmente se deveram a variações ao acaso pelo número pequeno de nascimentos, pois não se repetem em outros anos. Estudos como este são base para o estabelecimento de programas de vigilância de defeitos congênitos.

Lista de anomalias congênitas prioritárias para vigilância no âmbito do Sistema de Informações sobre Nascidos Vivos do Brasil / Lista de anomalías congénitas prioritarias para la vigilancia bajo el Sistema de Información sobre Nacidos Vivos en Brasil / List of priority congenital anomalies for surveillance under the Brazilian Live Birth Information System

Objetivo: Definir a lista de anomalias congênitas prioritárias para o aprimoramento do registro no Sistema de Informações sobre Nascidos Vivos (Sinasc). Métodos: A partir da Décima Revisão da Classificação Estatística Internacional de Doenças e Problemas Relacionados à Saúde (CID-10), protocolos internacionais e reuniões com especialistas, a lista de anomalias prioritárias foi construída considerando-se dois critérios principais: ser diagnosticável ao nascimento; e possuir intervenção disponível em diferentes níveis. A lista foi submetida a apreciação da Sociedade Brasileira de Genética Médica e Genômica. Resultados: Compuseram a lista oito grupos de anomalias congênitas distribuídos de acordo com o tipo de anomalia relacionada, bem como a parte do corpo afetada e sua correspondência ao código do capítulo XVII da CID-10. Conclusão: A lista de anomalias congênitas prioritárias para notificação fornece subsídios para o aprimoramento do registro no Sinasc.

Objetivo: Definir la lista de anomalías congénitas prioritarias para perfeccionar el registro en el Sistema de Información de Nacidos Vivos (Sinasc). Métodos: Con base en la Clasificación Internacional de Enfermedades, Décima Revisión (CIE-10), protocolos internacionales y reuniones con especialistas, la lista de anomalías prioritarias se construyó considerando dos criterios principales: ser diagnosticables al nacer y tener intervención disponible en diferentes niveles. La lista fue sometida a la consideración de la Sociedad Brasileña de Genética y Genómica Médica. Resultados: La lista comprendía ocho grupos de anomalías congénitas distribuidos según el tipo de anomalía relacionada, así como la parte del cuerpo afectada, todos ellos relacionados con algún código del capítulo XVII de la CIE-10. Conclusión: La lista de anomalías congénitas prioritarias para notificación proporciona subsidios para mejorar el registro en Sinasc.

Objective: To define the list of priority congenital anomalies for improving their recording on the Brazilian Live Birth Information System (Sinasc). Methods: Based on the International Statistical Classification of Diseases and Related Health Problems, Tenth Revision (ICD-10), international protocols and meetings with specialists, the list of priority anomalies was built considering two main criteria: being diagnosable at birth and having intervention available at different levels. The list was submitted for consideration by the Brazilian Medical Genetics and Genomics Society. Results: The list comprised eight groups of congenital anomalies distributed according to the type of related anomaly, as well as the affected part of the body and its corresponding code in ICD-10 Chapter XVII. Conclusion: The list of priority congenital anomalies for notification provides a basis for improving case recording on Sinasc.

Congenital anomalies from the health surveillance perspective: compilation of a list based on ICD-10. / Anomalias congênitas na perspectiva da vigilância em saúde: compilação de uma lista com base na CID-10.

OBJECTIVE: To propose a list of congenital anomalies having corresponding codes in the International Statistical Classification of Diseases and Related Health Problems, 10thRevision (ICD-10), with the aim of applying it in health surveillance. METHODS: In December 2019, the following data sources were searched: ICD-10; ICD-11; anomalies monitored by three surveillance programs; and a database of rare diseases (Orphanet). Anomalies were retrieved from these data sources, processed to check for correspondence with ICD-10 and reviewed manually to compile the list. RESULTS: 898 codes were identified, of which 619 (68.9%) were contained in ICD-10 Chapter XVII. Of the 279 codes contained in other chapters, 19 were exclusive to the ICD-11 search, 72 to the surveillance programs, 79 to Orphanet and 36 to the search for terms in ICD-10. CONCLUSION: The codes contained in ICD-10 Chapter XVII do not capture the totality of congenital anomalies, indicating the need to adopt an expanded list.

Prevalence at birth of congenital anomalies among live births in the state of Maranhão from 2001 to 2016: temporal and spatial analysis / Prevalências ao nascimento de anomalias congênitas entre nascidos vivos no estado do Maranhão de 2001 a 2016: análise temporal e espacial

Objectives: To analyze the prevalence at birth and the spatial and temporal distribution of congenital anomalies (CAs) among live births in the state of Maranhão in the years 2001 to 2016. To describe demographic, gestational and neonatal variables of interest. Methods: Ecological, population-based study, using secondary data from the Information System on Live Births (SINASC). Annual prevalence of total and per group CAs was calculated. Spatial analyzes used the calculation of Local Indicators of Spatial Association and the Moran I Index and interactive maps were generated. Demographic, gestational and neonatal variables of interest available at SINASC were described in the group of newborns with CAs. Results: 1,831,830 live births, 6,110 with CAs (33.4/10,000) were included. Higher frequencies have occurred in more recent years. Spatial clusters have been observed in specific years. The prevalence of births of babies with CAs was different between categories of variables considered as risk factors for this outcome. Conclusion: The prevalence at birth of total CAs was lower than expected for the human species for major defects (3%). The temporal peak of records in 2015/2016 is probably related to the increase in CAs caused by gestational infection by Zika virus. The spatial clusters were probably due to variations at random due to the small number of births as they are not repeated in other years. Studies like this are the basis for the establishment of CA surveillance programs.

Objetivos: Analisar as prevalências ao nascimento e a distribuição espacial e temporal das anomalias congênitas entre nascidos vivos no estado do Maranhão nos anos de 2001 a 2016. Descrever variáves de interesse demográficas, gestacionais e neonatais. Métodos: Estudo ecológico, de base populacional, a partir de dados secundários do Sistema de Informações sobre Nascidos Vivos. Foram calculadas prevalências ao nascimento anuais de ACs totais e por grupos. Análises espaciais utilizaram o cálculo de Indicadores de Associação Espacial Locais e o Índice de Moran I e mapas interativos foram gerados. Variáveis de interesse demográficos, gestacionais e neonatais disponíveis no SINASC foram descritas no grupo dos recém-nascidos com ACs. Resultados: Foram incluídos 1.831.830 nascidos vivos, 6.110 com anomalias congênitas (33,4/10.000). Maiores frequências ocorreram nos anos mais recentes. Aglomerados espaciais foram observados em anos específicos. As prevalências de nascidos vivos com anomalias foi diferente entre categorias de variáveis consideradas como fatores de risco para este desfecho. Conclusão: A prevalência ao nascimento de nascidos com anomalias congênitas  foi  inferior ao esperado para defeitos maiores na espécie humana (3%).  O pico temporal de registros em 2015/2016 está provavelmente relacionado ao aumento de microcefalia causada pela infecção gestacional por vírus Zika. Os aglomerados espaciais provavelmente se deveram a variações ao acaso pelo número pequeno de nascimentos pois não se repetem em outros anos. Estudos como este são base para o estabelecimento de programas de vigilância de defeitos congênitos.

Congenital anomalies from the health surveillance perspective: compilation of a list based on ICD-10 / Anomalías congénitas desde la perspectiva de vigilancia de la salud: compilación de una lista basada en la CIE-10 / Anomalias congênitas na perspectiva da vigilância em saúde: compilação de uma lista com base na CID-10

Objective. Propose a list of congenital anomalies with corresponding codes in the tenth revision of the International Classification of Diseases (ICD), aiming at application in the scope of health surveillance. Methods. In December 2019, the following sources were searched: ICD-10, ICD-11, abnormalities monitored by three surveillance programs, and a database of rare diseases (Orphanet). The Abnormalities were extracted from these data sources, processed based on the ICD-10 and compiled with manual review. Results. 898 codes were identified, of which 619 (68.3%) were in Chapter XVII of ICD-10. Of the 279 codes in other chapters, 19 were exclusive of the ICD-11 search, 72 of the surveillance programs, 79 of the Orphanet and 36 of the ICD-10 search for terms. Conclusion. The codes contained in chapter XVII of ICD-10 do not capture the totality of congenital anomalies, indicating the need of adopting of an expanded list.

Objetivo. Propor uma lista de anomalias congênitas com códigos correspondentes na Classificação Estatística Internacional de Doenças e Problemas Relacionados à Saúde ­ 10a Revisão (CID-10), visando aplicação no âmbito da vigilância em saúde. Métodos. Em dezembro de 2019, realizou-se busca nas seguintes fontes de dados: CID-10; CID-11; anomalias monitoradas por três modelos de vigilância; base de informações sobre doenças raras (Orphanet). Realizou-se extração das anomalias a partir dessas fontes, processamento para correspondência com base na CID-10 e compilação mediante revisão manual. Resultados. Foram identificados 898 códigos, dos quais 619 (68,3%) constavam no capítulo XVII da CID-10. Dos 279 códigos de outros capítulos, 19 foram exclusivos da busca na CID-11, 72 dos modelos de vigilância, 79 da Orphanet e 36 da busca de termos na CID-10. Conclusão. Os códigos que constam do capítulo XVII da CID-10 não captam a totalidade das anomalias congênitas, indicando a necessidade de adoção de uma lista ampliada.

International collaboration networks for the surveillance of congenital anomalies: a narrative review. / Redes internacionais de colaboração para a vigilância das anomalias congênitas: uma revisão narrativa.

Objective to identify international congenital anomaly surveillance collaboration networks, to list the programs that compose them and to compare their main characteristics. Methods this was a narrative literature review by means of a MEDLINE database search (via PubMed) and searches involving websites, reports and official documents. Results six international congenital anomaly surveillance collaboration networks were identified (ECLAMC, ICBDSR, EUROCAT, BINOCAR, SEAR-NBBD and ReLAMC), comprised of 98 programs present in 58 different countries on all continents, except Africa; the main characteristics regarding type of surveillance, coverage and location were discussed in a comparative manner. Conclusion international collaborative networks are important players for congenital anomaly surveillance, contributing to the understanding of the global epidemiological scenario of these conditions, in addition to acting both to strengthen individual existing programs and also to create surveillance initiatives in unassisted regions.