{"title":"对巴西 1463 名口面裂患者进行基因评估。","authors":"Isabela Mayá Wayhs Silva , Milena Atique Tacla , Erlane Marques Ribeiro , Elaine Lustosa-Mendes , Agnes Cristina Fett-Conte , Têmis Maria Félix , Ana Carolina Xavier , Isabella Lopes Monlleó , Vera Lúcia Gil-da-Silva-Lopes","doi":"10.1016/j.jped.2024.07.002","DOIUrl":null,"url":null,"abstract":"<div><h3>Objective</h3><div>The current study delves into the accessibility of genetic evaluations for individuals with orofacial clefts (OC), comparing data between genetics and treatment centers across Brazil.</div></div><div><h3>Methods</h3><div>This cross-sectional retrospective study analyzed primary data from 1463 OC individuals registered in the Brazilian Database of Craniofacial Anomalies (BDCA) between 2008 and 2018 without age or sex selection. Diagnostic exam results stemming from research projects until 2023 were considered.</div></div><div><h3>Results</h3><div>Of the 1463 individuals with typical OC, 987 were non-syndromic, 462 were syndromic (SOC), 10 presented atypical forms, and three were not specified OC cases. The average age for accessing laboratory diagnosis was 8.5 years among SOC individuals. Notably, more SOC cases were registered in genetics centers than treatment and rehabilitation centers (37.1 % vs. 29 %, <em>p</em> = 0.0015). Those originating from genetics centers accessed diagnosis at an average age of 7.3 years, while those from treatment and rehabilitation centers experienced delays with an average age of 10.7 years (<em>p</em> = 0.0581).</div></div><div><h3>Conclusions</h3><div>Irrespective of the center of origin, the data highlight delayed diagnosis and challenges in accessing genetic tests for the syndromic group. Given the widespread reliance on the public health system by most of the Brazilian population, disseminating this data can significantly contribute to shaping an informed perspective on healthcare access. These insights can improve public policies tailored to the unique needs of individuals with OC.</div></div>","PeriodicalId":14867,"journal":{"name":"Jornal de pediatria","volume":"100 6","pages":"Pages 604-608"},"PeriodicalIF":2.8000,"publicationDate":"2024-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Access to genetic evaluation of 1463 individuals with orofacial cleft in Brazil\",\"authors\":\"Isabela Mayá Wayhs Silva , Milena Atique Tacla , Erlane Marques Ribeiro , Elaine Lustosa-Mendes , Agnes Cristina Fett-Conte , Têmis Maria Félix , Ana Carolina Xavier , Isabella Lopes Monlleó , Vera Lúcia Gil-da-Silva-Lopes\",\"doi\":\"10.1016/j.jped.2024.07.002\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Objective</h3><div>The current study delves into the accessibility of genetic evaluations for individuals with orofacial clefts (OC), comparing data between genetics and treatment centers across Brazil.</div></div><div><h3>Methods</h3><div>This cross-sectional retrospective study analyzed primary data from 1463 OC individuals registered in the Brazilian Database of Craniofacial Anomalies (BDCA) between 2008 and 2018 without age or sex selection. Diagnostic exam results stemming from research projects until 2023 were considered.</div></div><div><h3>Results</h3><div>Of the 1463 individuals with typical OC, 987 were non-syndromic, 462 were syndromic (SOC), 10 presented atypical forms, and three were not specified OC cases. The average age for accessing laboratory diagnosis was 8.5 years among SOC individuals. Notably, more SOC cases were registered in genetics centers than treatment and rehabilitation centers (37.1 % vs. 29 %, <em>p</em> = 0.0015). Those originating from genetics centers accessed diagnosis at an average age of 7.3 years, while those from treatment and rehabilitation centers experienced delays with an average age of 10.7 years (<em>p</em> = 0.0581).</div></div><div><h3>Conclusions</h3><div>Irrespective of the center of origin, the data highlight delayed diagnosis and challenges in accessing genetic tests for the syndromic group. Given the widespread reliance on the public health system by most of the Brazilian population, disseminating this data can significantly contribute to shaping an informed perspective on healthcare access. These insights can improve public policies tailored to the unique needs of individuals with OC.</div></div>\",\"PeriodicalId\":14867,\"journal\":{\"name\":\"Jornal de pediatria\",\"volume\":\"100 6\",\"pages\":\"Pages 604-608\"},\"PeriodicalIF\":2.8000,\"publicationDate\":\"2024-07-22\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Jornal de pediatria\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0021755724000871\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Jornal de pediatria","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0021755724000871","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PEDIATRICS","Score":null,"Total":0}
Access to genetic evaluation of 1463 individuals with orofacial cleft in Brazil
Objective
The current study delves into the accessibility of genetic evaluations for individuals with orofacial clefts (OC), comparing data between genetics and treatment centers across Brazil.
Methods
This cross-sectional retrospective study analyzed primary data from 1463 OC individuals registered in the Brazilian Database of Craniofacial Anomalies (BDCA) between 2008 and 2018 without age or sex selection. Diagnostic exam results stemming from research projects until 2023 were considered.
Results
Of the 1463 individuals with typical OC, 987 were non-syndromic, 462 were syndromic (SOC), 10 presented atypical forms, and three were not specified OC cases. The average age for accessing laboratory diagnosis was 8.5 years among SOC individuals. Notably, more SOC cases were registered in genetics centers than treatment and rehabilitation centers (37.1 % vs. 29 %, p = 0.0015). Those originating from genetics centers accessed diagnosis at an average age of 7.3 years, while those from treatment and rehabilitation centers experienced delays with an average age of 10.7 years (p = 0.0581).
Conclusions
Irrespective of the center of origin, the data highlight delayed diagnosis and challenges in accessing genetic tests for the syndromic group. Given the widespread reliance on the public health system by most of the Brazilian population, disseminating this data can significantly contribute to shaping an informed perspective on healthcare access. These insights can improve public policies tailored to the unique needs of individuals with OC.
期刊介绍：
Jornal de Pediatria is a bimonthly publication of the Brazilian Society of Pediatrics (Sociedade Brasileira de Pediatria, SBP). It has been published without interruption since 1934. Jornal de Pediatria publishes original articles and review articles covering various areas in the field of pediatrics. By publishing relevant scientific contributions, Jornal de Pediatria aims at improving the standards of pediatrics and of the healthcare provided for children and adolescents in general, as well to foster debate about health.
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