ABSTRACT
The population of the northeast of Brazil is characterized by high rates of endogamy and disabilities. An epidemiological cross-sectional study using the informant method was conducted in eight communities in the hinterlands of Paraiba to describe genetic and acquired diseases that cause disabilities and to estimate the costs of specialized services such as physiotherapy and the acquisition of technological assistential equipment. From a population of 48,499 inhabitants, 338 individuals were screened and 123 (0.34%) were clinically, genetically and functionally assessed by a multidisciplinary team of specialists. Genetic factors were responsible for 58.5% of the disabilities, with some clusters of prevalent diseases being found within the sampled communities, namely progressive spinal muscular atrophy, spinocerebellar ataxia, muscular dystrophy and Spoan syndrome. The socioeconomic profile and the demand for rehabilitation services and technological assistance highlight the need to introduce and implement specific public health policies in these communities.
Subject(s)
Congenital Abnormalities/economics , Congenital Abnormalities/therapy , Disabled Persons , Health Care Costs , Adolescent , Adult , Aged , Brazil/epidemiology , Child , Child, Preschool , Congenital Abnormalities/diagnosis , Congenital Abnormalities/epidemiology , Cross-Sectional Studies , Female , Humans , Infant , Infant, Newborn , Male , Middle Aged , Young AdultABSTRACT
As populações do nordeste brasileiro possuem elevadas taxas de endogamia e deficiências. Neste trabalho, foi realizado um estudo epidemiológico transversal com método do informante para descrever doenças genéticas e as adquiridas que causam deficiências físicas em oito municípios da Paraíba e estimar os custos por serviços especializados de fisioterapia e aquisição de equipamentos de tecnologia assistiva. De uma população de 48.499 habitantes, 338 pessoas foram triadas e 123 (0,34%) realizaram avaliação clínico-genética e funcional por uma equipe multidisciplinar de especialistas. Fatores genéticos foram responsáveis por 58,5% das deficiências, sendo encontrados alguns agrupamentos de afecções prevalentes nas populações amostradas: amiotrofia espinal progressiva, ataxia espinocerebelar, distrofia muscular e síndrome Spoan. A descrição do perfil socioeconômico e das demandas por serviços de reabilitação e tecnologia assistiva apontam para necessidade de estabelecimento de políticas públicas específicas para essas comunidades.
The population of the northeast of Brazil is characterized by high rates of endogamy and disabilities. An epidemiological cross-sectional study using the informant method was conducted in eight communities in the hinterlands of Paraiba to describe genetic and acquired diseases that cause disabilities and to estimate the costs of specialized services such as physiotherapy and the acquisition of technological assistential equipment. From a population of 48,499 inhabitants, 338 individuals were screened and 123 (0.34%) were clinically, genetically and functionally assessed by a multidisciplinary team of specialists. Genetic factors were responsible for 58.5% of the disabilities, with some clusters of prevalent diseases being found within the sampled communities, namely progressive spinal muscular atrophy, spinocerebellar ataxia, muscular dystrophy and Spoan syndrome. The socioeconomic profile and the demand for rehabilitation services and technological assistance highlight the need to introduce and implement specific public health policies in these communities.
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Aged , Young Adult , Congenital Abnormalities/economics , Congenital Abnormalities/therapy , Disabled Persons , Health Care Costs , Brazil/epidemiology , Congenital Abnormalities/diagnosis , Congenital Abnormalities/epidemiology , Cross-Sectional StudiesABSTRACT
OBJECTIVES: The aim of this study was to identify communities at high risk of transmitting recessive genetic disorders by measuring levels of endogamy and offspring's rate of disabilities. METHODS: In a house-to-house population based-survey in the state of Paraíba, 20,462 couples were interviewed regarding kinship relation, number of siblings and offspring affected by mental or physical disabilities. RESULTS: The rate of consanguineous unions in the communities ranged from 6.0% to 41.14%, showing an average value of 20.19% ± 9.13%. The overall average inbreeding coefficient (F) was 0.00602 ± 0.00253, ranging from 0.00134 to 0.01182. Communities situated on the backlands had an increased average value of F compared to those closer to the seashore (P = 0.024). The average rate of disabled offspring varied from 2.96% ± 0.68% for unrelated unions to 10.44% ± 16.86% for related couples at the level of double first cousins or uncle-niece. The Spearman correlation coefficient between the overall rate of disabled offspring from all couples together and F was 0.510 (P < 0.01). CONCLUSION: Inbreeding increases the risk of disability which is unevenly distributed, varying considerably even in neighboring communities with similar Human Development Index and population density. Higher inbreeding communities are mostly located on the more economically underdeveloped backlands than on the coastal region. The identification of communities at high risk for genetic disorders could serve as basis for the establishment of Community Genetics programs.
