https://onlinelibrary.wiley.com/doi/10.1111/dmcn.15611

RésuméObjectifAfin de faciliter les études multisites et la recherche clinique d'envergure internationale, cette étude a pour but d'identifier des éléments de données communs (EDCs) normalisés et fondés sur un consensus pour l'arthrogrypose multiple congénitale (AMC).MéthodeUne étude à méthodes mixtes comprenant plusieurs groupes de discussion et trois séries d'enquêtes Delphi modifiées pour parvenir à un consensus ont été menées.RésultatsDans l'ensemble, 45 experts cliniques ainsi qu'adultes ayant une expérience vécue (dont 12 membres d'un consortium d'AMC) ont participé à cette étude à travers 11 pays en Amérique du Nord, Europe et Australie. Les EDCs comprennent 321 éléments de données et 19 mesures standardisées dans divers domaines, du développement du fœtus à l'âge adulte. Les éléments de données relatifs aux traits phénotypiques de l'AMC ont été cartographiés conformément à l'ontologie du phénotype humain (HPO). Une structure de gouvernance universelle, des protocoles de fonctionnement et des plans de développement durable ont été identifiés comme les principaux facilitateurs considérant que la capacité limitée de partage des données et la nécessité d'une infrastructure informatique fédérée étaient les principaux obstacles.InterprétationUne collecte de données systématiques sur l'AMC à l'aide d'EDCs permettra d'étudier sur les voies étiologiques, décrire le profil épidémiologique, et établir des corrélations génotype‐phénotype de manière standardisée. Les EDCs proposés faciliteront les collaborations internationales multidisciplinaires en améliorant à grande échelle les études multicentriques, les possibilités de partage des données, ainsi que le transfert et la diffusion des connaissances.

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(This editorial is based, in part, on a recent editorial on the same topic published in 30 collaborating journals).1 During the last few decades, the field of rehabilitation has achieved substantial recognition, growth, and acceptance. Rehabilitation addresses the impact of a health condition on an individual's everyday life by optimizing their functioning and reducing their experience of disability. Rehabilitation expands the focus of health beyond preventative and curative care to ensure individuals with a health condition can remain as independent as possible and participate in education, recreation, work, and meaningful life roles. Scientific and clinical research have generated a body of knowledge that strongly supports the use of many rehabilitation interventions in various populations, including children with diverse health conditions. It has been estimated that 2.41 billion people in the world could benefit from rehabilitation, including 162 million children younger than 15 years.2 Sensory impairments, mental disorders, and musculoskeletal disorders account for 91% of the prevalent cases in this age group. According to the 2022 World Health Organization (WHO) Global report on health equity for persons with disabilities, 1.3 billion people (or 16% of the world's population) has moderate to severe levels of disability associated with health conditions including approximately 78 million children younger than 15 years.3 Now more than ever, it is crucial that rehabilitation is available and accessible to all people in the world including children and young people with disabilities who should get priority.4 Notwithstanding the foregoing arguments, there continues to be a high unmet need for rehabilitation globally, with some low- and middle-income countries reporting unmet needs up to 50% of those who could benefit from rehabilitation. Many nations and health systems have not implemented policy measures that recognize rehabilitation as an essential component of universal health coverage, particularly in children and adolescents. Globally, little correlation is found between disease burden and identification as national health priorities, for example congenital birth defects have been recognized as the lowest priorities (11%) in countries where they were in the top 20 most burdensome conditions.5 The field of health policy and systems research (HPSR) seeks to understand and improve how societies organize themselves in achieving collective health goals, and how different actors interact in the policy and implementation processes to contribute to outcomes. HPSR for rehabilitation generates the evidence needed by policy makers to make decisions and to develop action plans to enhance the capacity of the health system to serve the population in need of rehabilitation. The importance of HPSR for rehabilitation has been highlighted and needs to be considered and used by national leaders, including the health policy and systems community. Supported by the recent resolution on ‘Strengthening rehabilitation in health systems’ that has been endorsed by the World Health Assembly for the first time in the history of the WHO, it is time to leverage HPSR to support societal health goals as they apply to rehabilitation. To realize implementation of this resolution, in 2022 the WHO Rehabilitation Programme established the World Rehabilitation Alliance (WRA; https://www.who.int/initiatives/world-rehabilitation-alliance). The main mandate of the WRA is to strengthen networks and partnerships that advocate for the integration of rehabilitation into health systems for all ages. The WRA focuses on promoting rehabilitation as an essential health service that is integral to Universal Health Coverage and achievement of the United Nations Sustainable Development Goal 3. The research workstream of the WRA is dedicated to the generation and use of HPSR evidence for planning and integrating rehabilitation into health systems. We believe that scientific and academic journals are important stakeholders that should publish, disseminate, and advocate use of HPSR for policy decisions related to rehabilitation. Not required.

ResumoObjetivoInvestigar a eficácia do exercício aeróbico na funcionalidade (participação, atividades e estruturas e funções corporais) e qualidade de vida (QV) de crianças e adolescentes com paralisia cerebral (PC).MétodoUma revisão sistemática com meta‐análise foi realizada. Uma busca abrangente de artigos foi realizada usando os bancos de dados eletrônicos Embase, PubMed, PEDro e CINAHL. A qualidade metodológica e a certeza das evidências foram avaliadas com as escalas PEDro e Grading of Recommendations Assessment, Development and Evaluation (GRADE), respectivamente. Os efeitos do exercício aeróbico na funcionalidade foram avaliados usando técnicas meta‐analíticas. No entanto, dada a natureza ampla dos resultados relacionados a funcionalidade e QV, diferentes instrumentos podem ser usados para mensurá‐los; isso tornou impossível a síntese dos resultados em uma meta‐análise para alguns dos desfechos.ResultadosQuinze ensaios clínicos randomizados com 414 participantes com PC foram incluídos. A análise da qualidade metodológica dos estudos revelou um baixo risco de viés. O efeito do exercício aeróbico comparado aos cuidados habituais ou outras intervenções foi significativo para a capacidade aeróbica (diferença média padronizada [DMP] = 0,81; intervalo de confiança de 95% [IC] = 0,16–1,47; p < 0,002; I2 = 68%), função motora grossa (DMP = 0,70; 95% = IC 0,21–1,19; p = 0,005; I2 = 49%), mobilidade (DMP = 0.53; 95% IC = 0.05–1.05; p = 0.03; I2 = 27%), equilíbro, and participação (DMP = 0.74; 95% IC = 0.10–1.39; p = 0.02; I2 = 0%). O exercício aeróbico não foi eficaz para a força muscular, espasticidade, parâmetros de marcha e QV (p > 0,05). A certeza da evidência para a maioria das comparações foi de moderada a baixa.InterpretaçãoEsta revisão fornece as evidências mais atualizadas sobre a eficácia do exercício aeróbico na funcionalidade e na qualidade de vida de crianças e adolescentes com PC.

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