Functional status of individuals with osteogenesis imperfecta: data from a reference center

Abstract Objective: To evaluate the functional status of individuals with Osteogenesis Imperfecta (OI) followed up at a reference center in the state of Bahia. Materials and methods: This is an observational, cross-sectional, descriptive study, which evaluated individuals with OI, based on a non-probabilistic sampling. To assess motor function, the Motor Function Measure (MFM) score was used, in addition to the measurement of muscle strength using the Medical Research Council (MRC) score. Functional performance was measured using the Pediatric Assessment of Disability Inventory, Computerized Adaptive Testing (PEDI-CAT). Results: Thirty-one individuals aged between two and 18 years old were evaluated. The overall score of MFM was 74.2%, and the lowest score was found in participants with type III OI (56.3%). The median of the MRC index was 80. The mobility domain was the most affected in the PEDI-CATevaluation, with a mean T score of 23.9, (14.2 in type III OI). Conclusions: Among the evaluated individuals, functional alterations were identified, reduced global gross motor functionality and muscle strength, impacting the mobility domain, with the most relevant findings in individuals with type III OI.

Respiratory function of children and adolescents with osteogenesis imperfecta: respiratory muscle strength, forced vital capacity, and peak expiratory flow / Função respiratória de crianças e adolescentes com osteogênese imperfeita: força muscular respiratória, capacidade vital forçada e pico de fluxo expiratório

Abstract Objective: This study aims to evaluate the respiratory function of children and adolescents with osteogenesis imperfecta (OI) followed up at a referral center. Methods: A cross-sectional study was conducted with a non-probabilistic sample. Manovacuometry was performed with the measurement of maximal inspiratory pressure (MIP) and maximal expiratory pressure (MEP), and in addition, peak expiratory flow (PEF) and ventilometry were performed to measure forced vital capacity (FVC). Results: In total, 23 individuals were evaluated, with a mean age of 11.6±3.4 years, 56.5% of whom were females. Regarding the classification of OI, 56.5% of the sample belonged to type IV, 30.5% to type III, and 13% to type I. The mean MIP was 64.4% of the predicted, and the mean MEP was 56.2% of the predicted. Overall, the mean PEF was 213.9 L/min, but only 140.6 L/min in the OI type III group. Median FVC was 1.9 L, corresponding to 110% of the predicted. Conclusions: Respiratory function of the study subjects was altered, with respiratory muscle strength values lower than expected in the whole sample, and peak expiratory flow was significantly reduced in the OI type III group.

RESUMO Objetivo: Avaliar a função respiratória de crianças e adolescentes com osteogênese imperfeita (OI) acompanhados em um centro de referência. Métodos: Realizou-se um estudo de corte transversal, com amostragem não probabilística. Foi realizada manovacuometria com mensuração da pressão inspiratória máxima (PIM) e pressão expiratória máxima (PEM), além do pico de fluxo expiratório (PFE) e da ventilometria para a medida da capacidade vital forçada (CVF). Resultados: Foram avaliados 23 indivíduos, com média de idade de 11,6±3,4 anos, sendo 56,5% do sexo feminino. Com relação à classificação da OI, 56,5% da amostra pertencia ao tipo IV, 30,5% ao tipo III e 13% ao tipo I. A média de PIM foi de 64,4% do previsto, e a PEM foi de 56,2% do previsto. A média de PFE foi de 213,9 L/min, sendo 140,6 L/min no grupo de OI tipo III. A mediana da CVF foi de 1,9 L, correspondendo a 110% do previsto. Conclusões: A função respiratória dos indivíduos estudados encontrava-se alterada, com valores abaixo do esperado em toda a amostra para força muscular respiratória, além do PFE reduzido no grupo OI tipo III.

Telehealth for children and adolescents with chronic pulmonary disease: systematic review / Telessaúde para crianças e adolescentes com doenças pulmonares crônicas: revisão sistemática

Abstract Objective: To revise the impact of telehealth on the quality of life, reduction in pulmonary exacerbations, number of days using antibiotics, adherence to treatment, pulmonary function, emergency visits, hospitalizations, and the nutritional status of individuals with asthma and cystic fibrosis. Data source: Four databases were used, MEDLINE, LILACS, Web of Science and Cochrane, as well as manual searches in English, Portuguese and Spanish. Randomized clinical trials, published between January 2010 and December 2020, with participants aged 0 to 20 years, were included. Data synthesis: Seventy-one records were identified after the removal of duplicates; however, twelve trials were eligible for synthesis. Included trials utilized: mobile phone applications (n=5), web platforms (n= 4), mobile telemedicine unit (n=1), software with an electronic record (n=1), remote spirometer (n=1), and active video games platform (n=1). Three trials used two tools, including telephone calls. Among the different types of interventions, improvement in adherence, quality of life, and physiologic variables were observed for mobile application interventions and game platforms compared to usual care. Visits to the emergency department, unscheduled medical appointments, and hospitalizations were not reduced. There was considerable heterogeneity among studies. Conclusions: The findings suggest that better control of symptoms, quality of life, and adherence to treatment can be attributed to the technological interventions used. Nevertheless, further research is needed to compare telehealth with face-to-face care and to indicate the most effective tools in the routine care of children with chronic lung diseases.

RESUMO Objetivo: Revisar o impacto da telessaúde na qualidade de vida, redução das exacerbações pulmonares, número de dias em uso de antibióticos, adesão ao tratamento, função pulmonar, visitas à emergência, hospitalizações e estado nutricional de indivíduos com asma e fibrose cística. Fontes de dados: Foram utilizadas quatro base de dados, sendo, MEDLINE, LILACS, Web of Science e Cochrane, além de pesquisas manuais nos idiomas inglês, português e espanhol. Foram incluídos ensaios clínicos randomizados, publicados no período de janeiro de 2010 a dezembro de 2020, com participantes de 0 a 20 anos. Síntese dos dados: Setenta e um registros foram identificados após a remoção das duplicatas e doze estudos foram elegíveis para síntese. Os ensaios utilizaram aplicativos para celular (n=5), plataformas da web (n= 4), unidade de telemedicina móvel (n=1), software com registro eletrônico (n=1), espirômetro remoto (n=1) e plataforma ativa de videogames (n=1). Três ensaios utilizaram duas ferramentas, incluindo chamadas telefônicas. Entre os diferentes tipos de intervenções, observou-se melhora na adesão, qualidade de vida e de variáveis fisiológicas para intervenções de aplicativos móveis e plataformas de jogos em comparação com os cuidados habituais. Visitas ao pronto-socorro, consultas médicas não agendadas e internações não foram reduzidas. Houve considerável heterogeneidade entre os estudos. Conclusões: Os achados sugerem que a melhora do controle dos sintomas, da qualidade de vida e da adesão ao tratamento podem ser atribuídos às intervenções tecnológicas utilizadas. No entanto, mais pesquisas são necessárias para comparar a telessaúde com o atendimento presencial e indicar as ferramentas mais efetivas na rotina de cuidados à população infantil com doenças crônicas pulmonares.