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Abstract Background Neurofibromatosis type 1 (NF1) is a rare genetic disorder with a wide range of clinical manifestations, notably neurocutaneous features, that can lead to emotional and physical consequences. Objectives This study assessed the influence of sociodemographic factors and clinical features of the disease on the quality of life of Brazilian individuals with NF1. Methods This is a descriptive cross-sectional study. Data were collected from 101 individuals with NF1 using the Brazilian version of the Impact of NF1 on Quality of Life Questionnaire (INF1-QoL), a form with information on sociodemographic characteristics, and an NF1 visibility self-evaluation scale. The relationship between variables was evaluated through statistical testing, and the significance level was defined as 0.05. Results The study included 101 adults with NF1 aged 18 to 59 years, with a mean age of 35.54 years (±9.63) and a female predominance (n = 84, 83.17%). The mean total INF1-QoL score was 10.62 (±5.63), with a median of 10, minimum value of 0, and maximum of 31 points. Two characteristics of the participants were significantly associated with the quality of life: educational level (p = 0.003) and familial history of NF1 (p = 0.019). There was a statistically significant correlation between the INF1-QoL score and the degree of disease visibility (rho = 0.218; p = 0.028). Study limitations Cross-sectional study, conducted with a convenience sample and using self-reported measures. Conclusions The findings support the significant impact of NF1 on quality of life. The authors recommend multidisciplinary follow-up for patients, with adherence to anticipatory clinical care measures, adequate pain control, psychological assistance, and genetic counseling.
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This manuscript reviewed the state of the art about the teaching and training of human resources for genetics and genomics in Brazil. We presented the national scenario of teaching genetics in medical undergraduate and other health courses. We discussed the training of medical geneticists through medical residency and addressed the training in genetics of physicians from specialties other than genetics. We examined the training of health professionals specializing in genetics through lato sensu and stricto sensu postgraduate programs and presented the proposals for multi-professional residency in genetic counseling and genetics and genomics that are currently the subject of discussion in the country. Finally, we highlighted the importance of training primary health care professionals concerning genetics and genomics for the effective establishment of a line of care for individuals with genetic disorders in the Brazilian Unified Health System. Therefore, we provided a thorough overview of how genetics is (or is not) incorporated into professional training in a comprehensive public healthcare system such as the Brazilian.
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Introduction: Alcohol consumption during pregnancy can lead to fetal alcohol spectrum disorders. This study developed and validated a questionnaire to assess university students' knowledge regarding the effects of alcohol during pregnancy. Methods: We designed an instrument with true-false-I do not know statements. Initially, 45 true statements were formulated and subjected to content validation by 19 experts. Based on the Content Validity Index (CVI), 17 items were selected. The instrument, called the Fetal Alcohol Consequences Test (FACT), was first assessed by 31 university students for the level of understanding. Then, the questionnaire was administered to a national Brazilian sample of university students, and an Exploratory Factor Analysis (EFA) was conducted. Each correct FACT answer was worth 1 point, and the knowledge was categorized as high (total score ≥ 80%), moderate (score between 60 and 79%), and low (score ≤ 59%). Results: When the questionnaire was being designed, the CVI values ranged from 0.779 to 1.0, and all statements were considered suitable by the target audience. For psychometric evaluation, 768 students from 24 Brazilian states participated. In the EFA, five statements were removed, revealing a tool with 12 items and two latent factors: "fetal alcohol spectrum disorders" and "conceptions and guidance on alcohol consumption during pregnancy." The KMO index (0.76426) and Bartlett's sphericity test (6362.6, df = 66, p < 0.00001) both supported the final EFA model. The goodness-of-fit indices for the factor structure were adequate: χ2 = 119.609, df = 43, p < 0.00001; RMSEA = 0.048; CFI = 0.977; TLI = 0.965. The mean total FACT score among participants was 7.71 ± 2.98, with a median of 8; 32.03% of the students had high (10-12 points), 24.09% moderate (8-9 points), and 43.88% low knowledge (<8 points). The questionnaire proved reliable, with a floor effect of 1.17%, a ceiling effect of 9.25%, and a Cronbach's alpha index of 0.798. Conclusion: The FACT can be utilized in university students' health education processes, contributing to greater knowledge and information dissemination about the effects of alcohol during pregnancy, in addition to the formulation of policies on the subject directed to this group of young adults.
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Consumo de Bebidas Alcohólicas , Conocimientos, Actitudes y Práctica en Salud , Psicometría , Estudiantes , Humanos , Femenino , Encuestas y Cuestionarios , Estudiantes/psicología , Embarazo , Universidades , Brasil , Masculino , Adulto Joven , Adulto , Trastornos del Espectro Alcohólico Fetal , Reproducibilidad de los Resultados , AdolescenteRESUMEN
INTRODUCTION: The aim of the study was to describe trauma injuries associated with rope bullfights in the Azores, Portugal, regarding the cause of the incident, trauma mechanism, most affected anatomical areas, and injury severity. METHODS: Two-year cross-sectional study in the local hospital with prospective data collection. Patients who were consecutively admitted to the local hospital's emergency department with trauma injuries from the bull's direct impact or from falls either during the bull's escape or when handling the rope, were included. Data on general demographics, lesion characteristics, treatments, need for hospitalization and mortality were collected. RESULTS: Fifty-six incidents and 80 trauma injuries were identified. The main cause of trauma was the bull's direct impact (37; 66.07%) and the mechanism of injury was blunt trauma in all patients (100%; 56). Head and neck injuries (27; 33.75%) were the most common. The median Injury Severity Score at the emergency department admission was 4. Major trauma was noted in five patients (8.92%). Ten patients (17.85%) needed hospitalization with a median hospital stay of seven days. Three of the 10 hospitalized patients (30%) were previously admitted to the intensive care unit. Surgery was performed in six patients (10.71%). CONCLUSION: The main cause of trauma was the bull's direct impact, and the mechanism of injury was blunt trauma. The most affected anatomical areas were the head and neck. These findings are a wake-up call to the impact of these events regarding the economic costs they entail, the costs for the health of the local population, the safety measures currently implemented and the availability of the necessary means to treat these patients.
Introdução: O objetivo deste estudo foi caracterizar as lesões traumáticas tauromáquicas ocorridas nas touradas à corda nos Açores no que diz respeito à causa do incidente, mecanismo de trauma, área anatómica mais afetada e gravidade das lesões. Métodos: Estudo unicêntrico, transversal, com a colheita prospetiva de dados realizada durante dois anos. Foram incluídos os doentes que consecutivamente recorreram ao serviço de urgência do hospital local por lesões traumáticas ocorridas por trauma direto com o animal ou quedas aquando da fuga ou manuseio da corda. Foram colhidos dados demográficos gerais, características da lesão, tratamentos efetuados, necessidade de internamento hospitalar e mortalidade. Foi realizada uma análise estatística descritiva com recurso ao software estatístico SPSS. Resultados: Registaram-se 56 admissões hospitalares e 80 lesões traumáticas. A principal causa de traumatismo foi o trauma direto com o animal (37; 66,07%) e o mecanismo de lesão foi o trauma fechado (56; 100%). As áreas anatómicas mais afetadas foram a cabeça e pescoço (27; 33,75%). A mediana de Injury Severity Score foi de 4 à admissão hospitalar. Cinco doentes (8,92%) apresentaram trauma major. Dez doentes (17,85%) necessitaram de internamento hospitalar com uma mediana de dias de internamento de sete (IIQ 4,5 dias). Três (30%) dos doentes internados necessitaram de internamento em unidade de cuidados intensivos. Seis doentes (10,71%) foram submetidos a cirurgia. Conclusão: A principal causa de traumatismo foi o trauma direto com o animal e o mecanismo de lesão foi o trauma fechado. As áreas anatómicas mais afetadas foram a cabeça e pescoço. Estes dados constituem um alerta para o impacto destes eventos no que diz respeito aos custos económicos que acarretam, aos custos para a saúde da população local, às medidas de segurança atualmente implementadas e à disponibilidade dos meios necessários para tratar estes doentes.
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Hospitalización , Heridas no Penetrantes , Humanos , Masculino , Animales , Bovinos , Estudios Transversales , Azores , Tiempo de Internación , Estudios RetrospectivosRESUMEN
BACKGROUND: Neurofibromatosis type 1 (NF1) is a rare genetic disorder with a wide range of clinical manifestations, notably neurocutaneous features, that can lead to emotional and physical consequences. OBJECTIVES: This study assessed the influence of sociodemographic factors and clinical features of the disease on the quality of life of Brazilian individuals with NF1. METHODS: This is a descriptive cross-sectional study. Data were collected from 101 individuals with NF1 using the Brazilian version of the Impact of NF1 on Quality of Life Questionnaire (INF1-QoL), a form with information on sociodemographic characteristics, and an NF1 visibility self-evaluation scale. The relationship between variables was evaluated through statistical testing, and the significance level was defined as 0.05. RESULTS: The study included 101 adults with NF1 aged 18 to 59 years, with a mean age of 35.54 years (±9.63) and a female predominance (n = 84, 83.17%). The mean total INF1-QoL score was 10.62 (±5.63), with a median of 10, minimum value of 0, and maximum of 31 points. Two characteristics of the participants were significantly associated with the quality of life: educational level (p = 0.003) and familial history of NF1 (p = 0.019). There was a statistically significant correlation between the INF1-QoL score and the degree of disease visibility (rho = 0.218; p = 0.028). STUDY LIMITATIONS: Cross-sectional study, conducted with a convenience sample and using self-reported measures. CONCLUSIONS: The findings support the significant impact of NF1 on quality of life. The authors recommend multidisciplinary follow-up for patients, with adherence to anticipatory clinical care measures, adequate pain control, psychological assistance, and genetic counseling.
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Neurofibromatosis 1 , Calidad de Vida , Factores Socioeconómicos , Humanos , Femenino , Masculino , Estudios Transversales , Neurofibromatosis 1/psicología , Adulto , Brasil/epidemiología , Persona de Mediana Edad , Adulto Joven , Adolescente , Encuestas y Cuestionarios , EscolaridadRESUMEN
This study aimed to determine the antibiotic profile of microorganisms isolated from urine samples of patients with community urine tract infections (UTI) admitted to the University Hospital of the Federal University of Sao Carlos to support an appropriate local empirical treatment. A retrospective cross-sectional study was conducted from October 2018 to October 2020. Data from 1,528 positive urine cultures for bacterial pathogens and antibiograms were tabulated. Bacterial species prevalence and their resistance profile were analyzed and compared by sex and age. For Gram-negative fermenting bacteria, resistance rates were compared between patients with previous hospitalization and the total of infections caused by this group. For comparisons, the Chi-square test was performed, using Fisher's exact test when necessary (BioEstat program, adopting p ≤ 0.05). A multivariate analysis was applied to assess the effect of the studied variables in predicting multidrug resistance. Infections were more prevalent in women and older adults. Gram-negative bacteria represented 90.44% of total cultures. In both sexes, E. coli prevalence was significantly higher in adults compared with older adults (p < 0.0001). For several antibiotics, resistance rates were higher in the older adults compared with other ages and in patients with Gram-negative fermenting infections and previous hospitalization compared with the total of infections by this group of bacteria. The closer to the hospitalization, the higher the number of antibiotics with superior resistance rates. Resistance rates for aminoglycosides, carbapenems, ceftazidime, nitrofurantoin, piperacillin+tazobactam, and fosfomycin were less than 20%, considered adequate for empirical treatment. Only hospitalization in the previous 90 days was statistically significant in predicting infections by multidrug-resistant bacteria.
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Antibacterianos , Infecciones Urinarias , Masculino , Humanos , Femenino , Anciano , Antibacterianos/farmacología , Brasil/epidemiología , Estudios Transversales , Escherichia coli , Prevalencia , Estudios Retrospectivos , Farmacorresistencia Bacteriana , Infecciones Urinarias/tratamiento farmacológico , Infecciones Urinarias/epidemiología , Hospitalización , Hospitales UniversitariosRESUMEN
Artemia nauplii are widely used as fish larvae feed due to its beneficial nutritional characteristics for larval development; however, efficient feeding strategies are needed to balance its high costs. Therefore, we evaluated the effects of different densities of Artemia nauplii (100, 250, 500, 750, and 1000 nauplii/post-larvae) on the growth, survival, water quality, and myogenic gene expression of tambaqui (Colossoma macropomum) post-larvae cultivated in a recirculating aquaculture system. After 2 weeks of trial, there was a significant decrease in dissolved oxygen concentration with the increase in nauplii density, but it did not interfere with larval performance and survival. In the first week, larvae fed with fewer than 500 nauplii/post-larvae presented slower growth, while in the second week, larvae fed with 1000 nauplii/post-larvae had the highest final weight and length. Regression analysis suggests that the optimum feeding density of Artemia nauplii during the first week is 411 nauplii/post-larvae, while for the second week, the growth increased proportionally to the feeding densities. The relative expression of the myod, myog, and mstn genes was higher in larvae fed with fewer than 500 nauplii/post-larvae. Although low-growing larvae showed increased expression of myod and myog genes, responsible for muscle hyperplasia and hypertrophy, respectively, mstn expression may have played a significant inhibitory role in larval development. Further research is needed to better determine the effects of the live food on the zootechnical performance and the expression of the myogenic genes in the initial phase of the life cycle of the tambaqui post-larvae.
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Artemia , Characiformes , Animales , Larva/genética , Artemia/genética , Alimentación Animal , Expresión GénicaRESUMEN
ABSTRACT BACKGROUND: Down syndrome (DS) is a non-rare genetic condition that affects approximately 1 in every 800 live births worldwide. Further, it is associated with comorbidities, anatomical alterations of the respiratory tract, and immunological dysfunctions that make individuals more susceptible to respiratory infections. OBJECTIVE: To systematize the current scientific knowledge about the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection among individuals with DS. DESIGN AND SETTING: This integrative review was conducted at the Universidade Federal de São Carlos, São Paulo, Brazil. METHODS: This review was conducted in the following databases: the Virtual Health Library (Biblioteca Virtual em Saúde, BVS), PubMed, and Web of Science, using MeSH descriptors. The search included English or Portuguese studies published between January 1, 2020, and October 14, 2022. RESULTS: A total of 55 articles from 24 countries were selected, comprising 21 case-control or cohort studies, 23 case reports or series, and 11 narrative reviews or opinion studies. The articles were grouped into five categories: previous comorbidities, coronavirus disease 2019 (COVID-19) clinical features and evolution, cytokine storm and interleukins, living in institutions as a risk factor, and behavioral actions as a protective factor against SARS-CoV-2 infection. CONCLUSION: Individuals with DS are more susceptible to COVID-19 infection due to variables such as previous comorbidities, immunological factors, and their habitable environments. These aspects confer a higher risk of infection and an unfavorable clinical course. The precise pathways involved in the pathophysiology of COVID-19 in individuals with DS are not clear, thus requiring further studies. SYSTEMATIC REVIEW REGISTRATION: The Open Science Framework registered the research protocol (https://osf.io/jyb97/).
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ABSTRACT This study aimed to determine the antibiotic profile of microorganisms isolated from urine samples of patients with community urine tract infections (UTI) admitted to the University Hospital of the Federal University of Sao Carlos to support an appropriate local empirical treatment. A retrospective cross-sectional study was conducted from October 2018 to October 2020. Data from 1,528 positive urine cultures for bacterial pathogens and antibiograms were tabulated. Bacterial species prevalence and their resistance profile were analyzed and compared by sex and age. For Gram-negative fermenting bacteria, resistance rates were compared between patients with previous hospitalization and the total of infections caused by this group. For comparisons, the Chi-square test was performed, using Fisher's exact test when necessary (BioEstat program, adopting p ≤ 0.05). A multivariate analysis was applied to assess the effect of the studied variables in predicting multidrug resistance. Infections were more prevalent in women and older adults. Gram-negative bacteria represented 90.44% of total cultures. In both sexes, E. coli prevalence was significantly higher in adults compared with older adults (p < 0.0001). For several antibiotics, resistance rates were higher in the older adults compared with other ages and in patients with Gram-negative fermenting infections and previous hospitalization compared with the total of infections by this group of bacteria. The closer to the hospitalization, the higher the number of antibiotics with superior resistance rates. Resistance rates for aminoglycosides, carbapenems, ceftazidime, nitrofurantoin, piperacillin+tazobactam, and fosfomycin were less than 20%, considered adequate for empirical treatment. Only hospitalization in the previous 90 days was statistically significant in predicting infections by multidrug-resistant bacteria.
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Parents use several coping strategies to deal with the challenges of caring for children with disabilities. This qualitative study explored the spiritual/religious coping strategies adopted by Brazilian mothers of children with severe or profound intellectual disabilities who were attending the medical genetics clinic for genetic counseling. Individual semi-structured interviews were conducted with 15 participants, selected by convenience. Thematic content analysis was used to investigate the data. Five major themes were recognized: (1) spirituality/religion as a source of resilience; (2) surrender to God's plan; (3) a feeling of predestination; (4) children with a disability perceived/conceived as a blessing; and (5) pleading for divine intervention. Participants highlighted the ability to recover and adapt to bad circumstances and stressful events with God's support using spiritual/religious resources and practices. They attributed the cause and control of events in their lives to an external and transcendental source, showing themselves to be resigned to the condition of their child with a disability and his/her demands. The feeling of predestination appeared as a form of divine intervention as well as a way of attributing meaning to the situation. Their child with a disability was compared constantly to an "angel," a celestial being created by God to be a messenger and fulfill divine purposes. From the participants' perspective, these coping mechanisms appeared to have helped them adjust to the situation. Spirituality and religiousness have become crucial in cultures such as Brazil, where religious practices, often highly syncretic, are common. A more detailed and comprehensive understanding of how spiritual/religious coping strategies are mobilized during the genetic counseling process can improve the cultural competence of genetic counselors and help guide proposals for more effective clinical interventions.
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This study aimed to assess the Family Quality of Life (FQoL) of Brazilian families with male children with Fragile X syndrome (FXS). Data from 53 families were collected using forms that included sociodemographic and clinical information, as well as the Beach Center Family Quality of Life Scale, a 5-point Likert scale ranging from "very dissatisfied" (1) to "very satisfied" (5). The mean overall FQoL score was 3.56 ± 0.79; the emotional well-being domain had the lowest score (2.98 ± 1.11) and showed significant differences between the other domains: family interaction (3.81 ± 0.89; p < 0.001), parenting (3.66 ± 0.89; p < 0.001), physical and material well-being (3.48 ± 0.83; p < 0.001), and disability-related support (3.75 ± 0.98; p < 0.001). Physical and material well-being was the second-lowest domain and was statistically different from the family interaction domain (p = 0.013). Lower FQoL satisfaction ratings were found in families with children who had difficulty getting along with people of the same age (t(51) = -3.193, p = 0.002; d = 1.019) and difficulty in living together on a day-to-day basis (t(51) = -3.060, p = 0.004; d = 0.888). These results highlight the importance of proper emotional support for the family, emphasizing the need to provide assistance not only for individuals with FXS but also for other family members. Besides, we advocate for the adoption of public policies that provide financial assistance to families and the implementation of the Brazilian Policy of Comprehensive Care for People with Rare Diseases.
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BACKGROUND: Down syndrome (DS) is a non-rare genetic condition that affects approximately 1 in every 800 live births worldwide. Further, it is associated with comorbidities, anatomical alterations of the respiratory tract, and immunological dysfunctions that make individuals more susceptible to respiratory infections. OBJECTIVE: To systematize the current scientific knowledge about the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection among individuals with DS. DESIGN AND SETTING: This integrative review was conducted at the Universidade Federal de São Carlos, São Paulo, Brazil. METHODS: This review was conducted in the following databases: the Virtual Health Library (Biblioteca Virtual em Saúde, BVS), PubMed, and Web of Science, using MeSH descriptors. The search included English or Portuguese studies published between January 1, 2020, and October 14, 2022. RESULTS: A total of 55 articles from 24 countries were selected, comprising 21 case-control or cohort studies, 23 case reports or series, and 11 narrative reviews or opinion studies. The articles were grouped into five categories: previous comorbidities, coronavirus disease 2019 (COVID-19) clinical features and evolution, cytokine storm and interleukins, living in institutions as a risk factor, and behavioral actions as a protective factor against SARS-CoV-2 infection. CONCLUSION: Individuals with DS are more susceptible to COVID-19 infection due to variables such as previous comorbidities, immunological factors, and their habitable environments. These aspects confer a higher risk of infection and an unfavorable clinical course. The precise pathways involved in the pathophysiology of COVID-19 in individuals with DS are not clear, thus requiring further studies. SYSTEMATIC REVIEW REGISTRATION: The Open Science Framework registered the research protocol (https://osf.io/jyb97/).
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COVID-19 , Síndrome de Down , Humanos , SARS-CoV-2 , Síndrome de Down/complicaciones , Brasil/epidemiología , Síndrome de Liberación de CitoquinasRESUMEN
Sickle cell disease is the most common hemoglobinopathy among humans. As the condition promotes susceptibility to infections, chronic inflammation, and hypercoagulability disorders, several international agencies have included individuals with this disease in the COVID-19 risk group for severe outcomes. However, available information about the subject is not properly systematized yet. This review aimed to understand and summarize the scientific knowledge about the impact of SARS-CoV-2 infection in patients with sickle cell disease. Searches were performed in the Medline, PubMed, and Virtual Health Library databases based on descriptors chosen according to the Medical Subject Headings. We analyzed studies published between 2020 and October 2022, developed with qualitative, quantitative, or mixed methodology, and written in English, Spanish, or Portuguese. The search resulted in 90 articles organized into six categories. There is disagreement in the literature about how different aspects related to sickle cell disease, such as chronic inflammation status, hypercoagulability, hemolytic anemia, use of hydroxyurea, and access to medical care interference with the clinical course of COVID-19. These topics deserve further investigation. It is evident, however, that the infection may manifest in an atypical way and act as a trigger for the development of sickle cell-specific complications, such as acute chest syndrome and vaso-occlusive crises, conditions that are associated with great morbidity and mortality. Therefore, healthcare professionals must be aware of the different forms of presentation of COVID-19 among these individuals. Specific guidelines and therapeutic protocols, as well as public policies for sickle cell individuals, must be considered. Systematic review registration: This review (https://doi.org/10.17605/OSF.IO/NH4AS) and the review protocol (https://osf.io/3y649/) are registered in the Open Science Framework platform.
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RESUMO: Objetivo: Investigar crenças e atitudes das cuidadoras em relação à alimentação e à evolução ponderal de crianças de 5-7 anos. Método: Estudo descritivo, 218 cuidadores/crianças, realizado em oito USF de São Carlos-SP, Brasil, em 2020/2021. Analisados dados antropométricos, informações sociodemográficas, histórico de saúde/hábitos de vida e questionário de alimentação da criança. Utilizado JASP® para análise estatística, significância p<0.05. Resultados: Pontuações maiores na percepção de responsabilidade sobre a alimentação da criança (p<0.0001), e menores na percepção e preocupação com o peso da criança (p<0.0001). Correlação positiva: IMC crianças X percepção e preocupação com o peso da criança (p<0.0001); menor escolaridade X menor percepção e preocupação com o peso da criança (p=0.034). Conclusão: Este estudo possibilitou a análise das crenças/atitudes de cuidadoras em relação à alimentação/evolução ponderal de suas crianças durante a pandemia, e pode servir como referência para estudos futuros e elaboração de estratégias de educação nutricional para esta população pediátrica.
ABSTRACT Objective: To investigate the beliefs and attitudes of caregivers concerning the diet and weight development of children aged 5-7. Method: Descriptive study, 218 caregivers/ children, carried out in eight USFs in São Carlos-SP, Brazil, in 2020/2021. Anthropometric data, sociodemographic information, health history/lifestyle habits, and the child's feeding questionnaire were analyzed. JASP® was used for statistical analysis, significance p<0.05. Results: Scores were higher in the perception of responsibility for the child's diet (p<0.0001), and lower in the perception and concern about the child's weight (p<0.0001). Positive correlation: BMI children X perception and concern about the child's weight (p<0.0001); lower schooling X lower perception and concern about the child's weight (p=0.034). Conclusion: This study made it possible to analyze the beliefs/attitudes of caregivers regarding the diet/weight gain of their children during the pandemic, and can serve as a reference for future studies and the development of nutritional education strategies for this pediatric population.
RESUMEN Objetivo: Investigar las creencias y actitudes de las cuidadoras en relación con la dieta y el desarrollo del peso de los niños de 5 a 7 años. Método: Estudio descriptivo, 218 cuidadoras/niños, realizado en ocho USF de São Carlos-SP, Brasil, en 2020/2021. Se analizaron los datos antropométricos, la información sociodemográfica, los antecedentes sanitarios/hábitos de vida y el cuestionario de alimentación del niño. Para el análisis estadístico se utilizó JASP®, significancia p<0,05. Resultados: Las puntuaciones fueron más altas para la percepción de responsabilidad por la dieta del niño (p<0,0001), y más bajas para la percepción y preocupación por el peso del niño (p<0,0001). Correlación positiva: Niños con IMC X percepción y preocupación por el peso del niño (p<0,0001); menor escolarización X menor percepción y preocupación por el peso del niño (p=0,034). Conclusión: Este estudio permitió analizar las creencias/actitudes de las cuidadoras en relación con la dieta/evolución ponderal de sus hijos durante la pandemia, y puede servir de referencia para futuros estudios y el desarrollo de estrategias de educación nutricional para esta población pediátrica.
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This cross-sectional and descriptive study examined the family quality of life (FQoL) among 72 Brazilian families who have children with Williams syndrome, a rare genetic disorder in which most individuals have an intellectual disability, usually mild. Data were collected using sociodemographic and clinical data forms and the Beach Center FQoL Scale. The overall FQoL score was 3.90 ± 0.45, below the limit of four points considered satisfactory. Families felt more satisfied with the family interaction (4.11 ± 0.57), parenting (4.07 ± 0.42), and disability-related support (3.94 ± 0.62) domains, and less satisfied with the family's emotional (3.49 ± 0.73) and physical/material well-being (3.73 ± 0.74) domains. Paternal education, children's cardiopathy and autonomy in activities of daily living explained 24.5% of the variance in the overall FQoL. Measures are necessary to improve the emotional and physical/material well-being of families to reduce the family burden. Monitoring the child's cardiac condition and promoting independence in activities of daily living are also the main procedures.
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Calidad de Vida , Síndrome de Williams , Niño , Humanos , Calidad de Vida/psicología , Actividades Cotidianas , Estudios Transversales , Brasil , Familia/psicología , Responsabilidad Parental/psicologíaRESUMEN
RESUMO Objetivou-se investigar estratégias de enfrentamento relatadas por uma amostra de mães brasileiras de filhos com deficiência intelectual grave ou profunda. Os poucos estudos brasileiros sobre este objeto justificaram a exploração qualitativa do tema. Participaram quinze mães recrutadas por conveniência em serviços de saúde de um município do Estado de São Paulo, Brasil. Foram feitas entrevistas semiestruturadas individuais e uma análise temática de conteúdo. Os resultados compreendem quinze temas, induzidos diretamente do corpus e alocados em três pré-categorias baseadas em estudos teóricos sobre coping. Houve um predomínio de menções a estratégias de enfrentamento centradas no problema e nas relações interpessoais, mescladas com estratégias centradas na emoção. Nossas entrevistadas não pareceram considerar-se alvos das políticas indutoras da atenção integral às pessoas com deficiência do Sistema Único de Saúde brasileiro, vigentes há cerca de duas décadas, e cuja efetiva implementação poderia ajudar a extrapolar o cuidado baseado preponderantemente na responsabilidade parental, em suas visões. Em suas falas, há demandas de maior efetividade também dos setores de serviço social, educação e transporte. Apontaram necessidades de maior interação e apoio sociocomunitário, expressando expectativas de um progressivo redesenho cultural da ética do cuidado que fomente ações no âmbito extrafamiliar, diminuindo suas sobrecargas. Esses aspectos das falas das entrevistadas podem ser abordados no manejo clínico dos filhos. Um enfrentamento progressivamente mais saudável da condição por que passam traria benefícios diretos também aos indivíduos com deficiência.
RESUMEN El objetivo fue investigar las estrategias de afrontamiento reportadas por una muestra de madres brasileñas de niños con discapacidades intelectuales severas o profundas. Los pocos estudios brasileños sobre este objeto justificaron la exploración cualitativa del tema. Quince madres participaron, reclutadas por conveniencia en los servicios de salud de un municipio del estado de São Paulo, Brasil. Se realizaron entrevistas semiestructuradas individuales y un análisis de contenido temático. Los resultados comprenden quince temas, inducidos directamente del corpus; fueron asignados en tres categorías previas teóricamente basadas. Las menciones predominantes de estrategias de afrontamiento se referían a aquellos centrados en problemas y relaciones interpersonales, que se mezclaron con estrategias centradas en la emoción. Nuestras entrevistadas no parecían considerarse objetivos de políticas inductoras de una atención integral para las personas con deficiencia en el Sistema Único de Salud de Brasil, en vigor durante aproximadamente dos décadas, y cuya implementación efectiva podría ayudar a extrapolar la atención basada principalmente sobre responsabilidad parental, en sus opiniones. Expresaron demandas de una mayor efectividad de los sectores de servicio social, educación y transporte. Señalaron la necesidad de una mayor interacción social y apoyo sociocomunitario, y parecían expresar las expectativas de un rediseño cultural progresivo de una ética de la atención que fomente acciones en el ámbito extrafamiliar, reduciendo sus sobrecargas. Estos aspectos de las declaraciones de los entrevistados pueden abordarse en el manejo clínico de sus hijos. Un afrontamiento más saludable de la condición que están experimentando también beneficiaría a las personas con discapacidades.
ABSTRACT. The objective was to investigate coping strategies reported by a sample of Brazilian mothers of children with severe or profound intellectual disabilities. The few Brazilian studies on this object justified the present qualitative exploration of the theme. Fifteen mothers participated, recruited by convenience in health services from a municipality in the interior of the state of São Paulo, Brazil. Individual semi-structured interviews and a thematic content analysis were carried out. The results comprise fifteen themes, induced directly from the corpus; they were allocated into three pre-categories based on theoretical studies on coping. Predominant mentions of coping strategies concerned those centered on problem and interpersonal relationships, which were mixed with strategies focused on emotion. Our interviewees did not seem to consider themselves targets of policies that induce a comprehensive care for people with disability in the Brazilian Unified Health System, in force for about two decades, and whose effective implementation could help extrapolate care based predominantly, on parental responsibility in the views of the participants. They expressed demands for a greater effectiveness also from the sectors of social service, education and transport. They pointed out the need for greater social interaction and socio-community support, seeming to express expectations of a progressive cultural redesign of an ethics of care that fosters actions in the extra-family sphere, reducing their overloads. These aspects of the interviewees' statements can be addressed in the clinical management of their children. A progressively healthier coping with the condition they are experiencing would also benefit individuals with disabilities.
Asunto(s)
Humanos , Femenino , Adulto , Persona de Mediana Edad , Adaptación Psicológica , Niños con Discapacidad/psicología , Madres/psicología , Emociones/fisiología , Relaciones Interpersonales , Discapacidad Intelectual/psicologíaRESUMEN
This exploratory cross-sectional study aimed to examine the family quality of life (FQoL) among 51 Brazilian families who have children with Rubinstein-Taybi syndrome, a rare genetic disorder. Data were collected using sociodemographic and clinical data forms, as well as the Beach Center FQoL Scale, a 5-point Likert scale ranging from "very dissatisfied" (1) to "very satisfied" (5). The average score of the overall FQoL was 3.93 ± 0.64. Families' scores were higher for family interaction (4.17 ± 0.76), parenting (4.13 ± 0.61), and disability-related support (4.08 ± 0.76) domains, and lower for the family's emotional well-being (3.31 ± 0.96) and physical/material well-being (3.76 ± 0.82) domains. Family income, attendance at religious services, presence of ocular abnormalities, and aggressive behavior explained 46.2% of the variance in the overall FQoL. In summary, FQoL seems to be anchored in aspects such as family interaction and the care of parents, and be negatively affected by emotional issues, physical, and material limitations. In this context, psychological assistance should be provided to both parents and siblings whenever indicated, for improving emotional well-being and increasing family resilience. Additionally, investments in social policies, services, and human and material resources are needed to improve the physical and material conditions of families, promote better health care, and therefore reduce the family burden.
Asunto(s)
Resiliencia Psicológica , Síndrome de Rubinstein-Taybi , Brasil/epidemiología , Niño , Estudios Transversales , Familia/psicología , Salud de la Familia , Humanos , Responsabilidad Parental/psicología , Calidad de Vida/psicología , Síndrome de Rubinstein-Taybi/epidemiología , Síndrome de Rubinstein-Taybi/genéticaRESUMEN
ABSTRACT Background: Intellectual disability (ID) and autism spectrum disorder (ASD) are often concomitant childhood developmental disorders. These disorders can alter family quality of life (FQoL). Objective: To investigate FQoL among families who have children with mild ID, associated with mild ASD. Methods: Cross-sectional descriptive study with 69 families who have children with mild ID and ASD, ranging from six to 16 years old, and who were provided with disability-related services in Brazil. Data were collected using a family sociodemographic questionnaire, an ID and ASD personal profile form, the Barthel index for activities of daily living and the Beach Center FQoL scale. Results: People with ID and ASD had an average score of 88.2±11.5 in the Barthel index, thus indicating moderate dependency in basic activities of daily living. The average total FQoL score (3.56±0.34) was lower than the scores for the "family interaction" (3.91±0.42; p<0.001), "parenting" (3.79±0.35; p<0.001) and "disability-related support" (3.98±0.16; p<0.001) domains; and higher than the scores for the "physical/material well-being" (3.19±0.64; p<0.001) and "emotional wellbeing" (2.75±0.62; p<0.001) domains. Parents' marital condition, monthly family income, family religious practice and effective communication skills among the people with ID and ASD were predictors for FQoL (R2=0.407; p<0.001). Conclusions: FQoL was sustained through factors such as family interaction and parents' care for their children. Improving families' emotional wellbeing and physical and material conditions is likely to positively affect the FQoL of these families.
RESUMO Antecedentes: Deficiência intelectual (DI) e transtorno do espectro do autismo (TEA) são distúrbios do desenvolvimento infantil frequentemente concomitantes que podem impactar na qualidade de vida familiar (QVF). Objetivo: Esta pesquisa avaliou a QVF entre famílias que têm filhos com DI leve associada a TEA leve. Métodos: Pesquisa transversal e descritiva, que investigou 69 famílias com filhos com DI e TEA leves, com idades entre seis e 16 anos, que recebiam serviços relacionados à deficiência no Brasil. Os dados foram coletados por meio de formulário sociodemográfico, formulário de perfil da pessoa com DI e TEA, o índice de funcionalidade de Barthel e a Escala de QVF do Beach Center. Resultados: Os indivíduos com DI e TEA obtiveram pontuação média de 88,2±11,5 no índice de Barthel, o que indicou dependência moderada nas atividades básicas de vida diária. O escore médio da QVF total (3,56±0,34) foi menor que os escores dos domínios "interação familiar" (3,91±0,42; p<0,001), "cuidados dos pais com os filhos" (3,79±0,35; p<0,001) e "apoio ao deficiente" (3,98±0,16; p<0,001), e maior que os escores dos domínios "bem-estar físico-material" (3,19±0,64; p<0,001) e "bem-estar emocional" (2,75±0,62; p<0,001). Condição marital dos pais, renda mensal, prática religiosa e comunicação adequada dos indivíduos com DI e TEA foram preditores da QVF (R2=0,407; p<0,001). Conclusões: A QVF foi sustentada por aspectos como a interação familiar e o cuidado dos pais com os filhos. Melhorar o bem-estar emocional e as condições físicas e materiais familiares provavelmente afetará positivamente a qualidade de vida dessas famílias.
RESUMEN
BACKGROUND: Intellectual disability (ID) and autism spectrum disorder (ASD) are often concomitant childhood developmental disorders. These disorders can alter family quality of life (FQoL). OBJECTIVE: To investigate FQoL among families who have children with mild ID, associated with mild ASD. METHODS: Cross-sectional descriptive study with 69 families who have children with mild ID and ASD, ranging from six to 16 years old, and who were provided with disability-related services in Brazil. Data were collected using a family sociodemographic questionnaire, an ID and ASD personal profile form, the Barthel index for activities of daily living and the Beach Center FQoL scale. RESULTS: People with ID and ASD had an average score of 88.2±11.5 in the Barthel index, thus indicating moderate dependency in basic activities of daily living. The average total FQoL score (3.56±0.34) was lower than the scores for the "family interaction" (3.91±0.42; p<0.001), "parenting" (3.79±0.35; p<0.001) and "disability-related support" (3.98±0.16; p<0.001) domains; and higher than the scores for the "physical/material well-being" (3.19±0.64; p<0.001) and "emotional wellbeing" (2.75±0.62; p<0.001) domains. Parents' marital condition, monthly family income, family religious practice and effective communication skills among the people with ID and ASD were predictors for FQoL (R2=0.407; p<0.001). CONCLUSIONS: FQoL was sustained through factors such as family interaction and parents' care for their children. Improving families' emotional wellbeing and physical and material conditions is likely to positively affect the FQoL of these families.