Caracterização e necessidades de saúde de indivíduos com anomalias orofaciais
Data
2019-02-14
Autores
Francisquetti, Marina Cristine Cano
Título da Revista
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Editor
Universidade Estadual Paulista (Unesp)
Resumo
As fendas ou fissuras orofaciais típicas (FOT) são consideradas defeitos congênitos comuns na população. Apresentam etiologia complexa e podem ocorrer isoladamente ou como componentes de síndromes, como a síndrome de Deleção 22q11.2, a mais frequentemente associada com FOT. A investigação dos fatores genéticos, epidemiológicos e das necessidades de saúde dos afetados é fundamental para o esclarecimento do diagnóstico etiológico, prognóstico, fatores de risco, planejamento terapêutico, Aconselhamento Genético, estabelecimento de estratégias de acesso à saúde e de prevenção. Entretanto, pouco se conhece dos afetados por FOT na realidade brasileira. Este estudo de coorte retrospectivo e descritivo teve como objetivo estudar aspectos clínicos e epidemiológicos, fatores de risco e acesso a tratamentos de pacientes com FOT. Foi realizada coleta de dados e avaliação de 70 indivíduos, sindrômicos e não-sindrômicos, com a utilização de um protocolo uniformizado da Base Brasileira de Anomalias Craniofaciais (BBAC/CranFlow®), do Projeto Crânio-Face Brasil (BBAC/CranFlow®/SJRP). Os dados em investigação foram extraídos diretamente desta Base. Foram avaliados dados de pacientes de São José do Rio Preto inseridos de 2014 a 2016 e casos novos, inseridos de 2017 a 2018, que foram registrados por meio de entrevistas, exames e avaliações multidisciplinares. Exames genéticos laboratoriais foram realizados a critério clínico, específico para cada caso. A maioria dos indivíduos eram sindrômicos (68,57%), de ascendência nativa, classe social baixa e sem recorrência familial. Todos os tipos de fendas foram mais comuns nos homens. Houve diferença significativa entre os sexos quanto ao tipo de FOT. Foram identificados fatores etiológicos em 54,16% dos casos sindrômicos e não houve diferença significativa com relação aos fatores de risco entre sindrômicos e não-sindrômicos. Houve atraso no diagnóstico das fendas e no acesso aos tratamentos na maioria dos casos. A maioria dos resultados corroborou dados previamente descritos. Uma base de dados parece ser uma estratégia útil para identificar características importantes relacionadas às FOT. Os resultados podem contribuir para planejamento de políticas públicas objetivando a superação de iniquidades e melhoria da qualidade de vida dos afetados e de seus familiares.
Typical orofacial clefts (TOC) are considered common congenital defects in the population. They present complex etiology and may occur in isolation or as components of syndromes, such as 22q11.2 deletion syndrome, most frequently associated with TOC. The investigation of the genetic, epidemiological factors and health needs of the affected is fundamental for the clarifying of the aetiological diagnosis, prognosis, risk factors, therapeutic planning, Genetic Counseling, establishment of strategies of access to health and prevention. However, little is known of those affected by TOC in the Brazilian reality. This retrospective and descriptive cohort study aimed to study the epidemiological and clinical aspects, the risk factors and access to treatment from Brazilian patients with TOC. Was realized a data collection and evaluation of 70 individuals, syndromic and non-syndromic, using a standardized protocol, of the Brazilian Database of Anomalies Craniofacial (BDAC/CranFlow®), of the Brazil’s Craniofacial Project (BDAC/CranFlow®/SJRP). The data under investigation were extracted directly from this Database. We evaluated data from patients from São José do Rio Preto inserted from 2014 to 2016 and new cases, from 2017 to 2018, which were recorded through interviews, examinations and multidisciplinary evaluations. Genetic laboratory tests were performed according to clinical criteria, specific to each case. Most individuals were syndromic (68.57%), of native ancestry, from lower middle class, who presented no familial recurrence. All the types of TOC contributed to a higher affection rate among males. There was a significant difference in the types of TOC concerning sex. We identified etiological factors in 54.16% of syndromic cases and there was no significant difference regarding the risk factors of syndromic and nonsyndromic individuals. There was a delay in diagnosis time and in the access to treatments in most of cases. Most of our results corroborated to others previously described in the literature. A database seems to be a useful strategy to identify important characteristics related to TOC. The results can contribute to the planning of public policies aimed at overcoming iniquities and improving the quality of life of those affected and their families.
Typical orofacial clefts (TOC) are considered common congenital defects in the population. They present complex etiology and may occur in isolation or as components of syndromes, such as 22q11.2 deletion syndrome, most frequently associated with TOC. The investigation of the genetic, epidemiological factors and health needs of the affected is fundamental for the clarifying of the aetiological diagnosis, prognosis, risk factors, therapeutic planning, Genetic Counseling, establishment of strategies of access to health and prevention. However, little is known of those affected by TOC in the Brazilian reality. This retrospective and descriptive cohort study aimed to study the epidemiological and clinical aspects, the risk factors and access to treatment from Brazilian patients with TOC. Was realized a data collection and evaluation of 70 individuals, syndromic and non-syndromic, using a standardized protocol, of the Brazilian Database of Anomalies Craniofacial (BDAC/CranFlow®), of the Brazil’s Craniofacial Project (BDAC/CranFlow®/SJRP). The data under investigation were extracted directly from this Database. We evaluated data from patients from São José do Rio Preto inserted from 2014 to 2016 and new cases, from 2017 to 2018, which were recorded through interviews, examinations and multidisciplinary evaluations. Genetic laboratory tests were performed according to clinical criteria, specific to each case. Most individuals were syndromic (68.57%), of native ancestry, from lower middle class, who presented no familial recurrence. All the types of TOC contributed to a higher affection rate among males. There was a significant difference in the types of TOC concerning sex. We identified etiological factors in 54.16% of syndromic cases and there was no significant difference regarding the risk factors of syndromic and nonsyndromic individuals. There was a delay in diagnosis time and in the access to treatments in most of cases. Most of our results corroborated to others previously described in the literature. A database seems to be a useful strategy to identify important characteristics related to TOC. The results can contribute to the planning of public policies aimed at overcoming iniquities and improving the quality of life of those affected and their families.
Descrição
Palavras-chave
Acesso à saúde, Fenda labial, Fenda palatina, Microdeleção, Defeito congênito, Health access, Cleft lip, Cleft palate, Microdeletion, Birth defects