Estudo epidemiológico e genético da deficiência física em populações do nordeste brasileiro

Abstract

Introduction: The states of Northeastern Brazil have high frequency of consanguineous marriages, which contributes to the increased frequency of physical disabilities associated with genetic diseases of recessive inheritance. Objective: The aim of this study was to develop tools to investigate the etiologic factors associated with physical disability and perform the clinical, genetic, as necessary, and functional diagnosis of individuals with physical disabilities in two municipalities. Methodology: The first descriptive and quantitative study developed an information collection instrument on people with disabilities and compared data collected by 37 community health agents with those obtained by researchers to evaluate the reliability of information. Data were analyzed using the SPSS 22.0 software. Frequency distribution tables were constructed for categorical variables and means for numeric variables. The inter-observer simple agreement percentage for records groups and Kappa (κ) were used to calculate the inter-observer agreement of etiological approach groups. In the second population-based study, a sample of 139 people with physical disabilities was assessed from the clinical-genetic and functional point of view to assess the contribution of different etiological factors in its determination. Data were analyzed using the SPSS 22.0 software adopting significance level of 5%. Frequency, prevalence and prevalence ratio of data were calculated. Results: Health agents underestimated the prevalence of physical disability in relation to researchers, although the information agreement for the classification categories has been above 80%, with Kappa of 0.582 (p <0.001). Related couples are 3.26 more likely to have children with physical disability compared to unrelated couples. Environmental or acquired factors cause 47.40% of disabilit ies and external causes are the most prevalent; genetic etiology disabilit ies accounted for 16.50% of the sample, and genetic syndromes and congenital malformations are the most prevalent; 22.30% had multifactorial origin such as stroke and kyphoscoliosis, and 13.66% remained undiagnosed. Most individuals with disabilities were independent and could perform activities of daily living in a modified form. As for the demand for assistive technology and rehabilitation services, only 7.20% received physiotherapy care, 70.50% needed equipment; however, only 41.00% had it at the time of interview. Conclusion: The results show that it is possible to qualify the information collected about people with physical disabilities by improving current strategies and information systems in primary care. Due to consanguineous marriages, populations from northeastern Brazil have higher prevalence of this type of disability and need genetic counseling services and greater coverage by rehabilitation services and assistive technology.