Objective: To measure the functional independence to perform activities of daily living of pediatric patients diagnosed with mucopolysaccharidoses. Methods: A descriptive cross-sectional study was carried out with the population of pediatric patients with a confirmed enzymatic diagnosis of mucopolysaccharidoses, enrolled in the Orthopedics outpatient clinic of a hospital in the State of Bahia. The data were collected between October 2016 and March 2017, based on the documentary analysis of the assessment forms used in the department. The variables of this study comprised sex, age, type of MPS and level of functional independence, measured by the Functional Independence Measure scale. Results: Twenty-six patients participated in the study. These were predominantly male (61.5%), with a mean age of 10 ± 4.5 years, affected by MPS VI (73.1%). In the motor domain, the mean score was 65 (± 19.9 points); the cognitive domain obtained a mean score equal to 28 (± 8.2 points); and the total FIM score was 93 (± 26.5). Conclusion: Impaired functional independence was observed among children and adolescents with mucopolysaccharidoses. Tasks related to dressing, toileting, bathing, problem solving and social interaction were those that required the most assistance and/or supervision. Level of Evidence IV, Case Series.
As mucopolissacaridoses (MPS) formam um grupo de doenças raras de acúmulo lisossomal que se caracterizam pela falta de uma das enzimas responsáveis pela degradação dos mucopolissacarídeos ou glicosaminoglicanos (GAG). Estas doenças têm um importante impacto nas atividades diárias dos pacientes em virtude do comprometimento locomotor, como as mãos. O objetivo deste trabalho foi o de avaliar a mão de pacientes com MPS utilizando a versão brasileira do Michigan Hand Outcome Questionnaire (MHQ). Dos 16 indivíduos selecionados, entre 8 e 21 anos, portadores de MPS, 87.5%, apresentaram MPS IV, sendo as atividades de vida diária o domínio mais acometido com (46.87%). A versão brasileira do MHQ demonstrou ser eficiente, consistente e confiável para avaliação e quantificação do acometimento da mão na MPS. Artigo original: Marcos A. Matos, PhD, Ingrid C. F. Barboza, MD, Marina V. A. R. Ferraz, PhT, and Guy Hembroff, PhDMichigan Hand Outcomes Questionnaire for the Evaluation of Patients with Mucopolysaccharidosis. Bulletin of the Hospital for Joint Diseases 2018;76(2):112-5.
Objetivo: Identificar o perfil materno-infantil de recém-nascidos prematuros no estado da Bahia. Métodos: Estudo quantitativo, descritivo, transversal e retrospectivo, baseados nas informações de nascidos vivos, no estado da Bahia, no período de 2008 a 2018, por meio do Sistema de Informações sobre Nascidos Vivos – SINASC. Resultados: Houve um total de 212.720 nascimentos de recém-nascidos pré-termos, com maior prevalência para os prematuros entre 32 e 36 semanas de gestação, de mães com idade entre 15 a 24 anos, solteiras e com grau de instrução menor que 11 anos de estudo. A maioria dos recém-nascidos menores de 22 semanas de gestação tiverem entre 1 e 3 consultas pré-natais e os demais prematuros receberam entre 4 e 6 consultas, predominando o parto vaginal, com a maioria dos recém-nascidos sendo do sexo masculino, pretos e pardos, pesando menos de 2.500 Kg. Os recém-nascidos com maior grau de prematuridade apresentam valores menores de Apgar. E apenas uma parcela pequena dos prematuros uma parcela pequena dos prematuros apresentou anomalias genéticas. Conclusão: A identificação dos fatores de risco de nascimentos prematuros permite a realização de educação em saúde, planejamento familiar e pré-natal de qualidade, visando evitar ocorrência desses partos e propiciar que os recém-nascidos sobrevivam com maior qualidade de vida.
<p><strong>Objetivo:</strong> Descrever uma abordagem fisioterapêutica na reabilitação neuropsicomotora e respiratória pediátrica voltada à integralidade do indivíduo. <strong>Descrição do caso:</strong> Paciente R.S.C.R, sexo masculino, nascido de parto cesáreo, com diagnóstico clínico de malformações congênitas, portador de Transposição das Grandes Artérias - TGA, Comunicação Interatrial - CIA e Comunicação Interventricular Ampla - CIV. Avaliado aos 09 meses de idade com diagnóstico fisioterapêutico de atraso no desenvolvimento neuropsicomotor. <strong>Conclusão: </strong>Esse relato de caso evidenciou resolução na reabilitação de uma criança com Transposição das Grandes Arterias - TGA em acompanhamento fisioterapêutico clinico, identificada pela melhora neuropsicomotora.</p>
Introduction: The aim of the study is to assess the functional independence of a group of patients with mucopolysaccharidosis using the Functional Independence Measure as a tool that accomplishes this purpose. Methods: This is a cross-sectional study of patients with mucopolysaccharidosis. Our data was collected between June 2015 and July 2016. In addition to history of present illness and physical examination each study participant was asked to answer a questionnaire to specifically evaluate their functional independence using the Functional Independence Measure. The internal consistency of the Functional Independence Measure was assessed using Cronbach’s alpha coefficient. Results: We collected data on 20 patients with mucopolysaccharidosis. The average age was 10.8 (8.67-13.03) years, the average weight was 23.6 (19,91-27,37) kg and the average height was 1 (0.83-1.17) m. The most prevalent type of mucopolysaccharidosis in the study was type VI (n=14). The average total Functional Independence Measure score was 104.4 (97.61-111.19), the average for the Mobility domain was 73.50 (68.22-78.78) and the average for the Cognitive Function domain was 30.90 (28.68-33.13). The internal consistency of the entire questionnaire was 0.859, with values of 0.966 for the Mobility domain and 0.624 for the Cognitive Function domain. Conclusion: The lowest Functional Independence Measure scores were obtained in the following sub-domains: Self-care, Locomotion and Cognitive Function. The Functional Independence Measure questionnaire demonstrated internal consistency for the evaluation of functional independence in patients with mucopolysaccharidosis, being able to value all the affected sub-domains separately.
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