Effectiveness and Safety of Botulinum Toxin Type A in Children with Musculoskeletal Conditions: What Is the Current State of Evidence?

Children with musculoskeletal conditions experience muscle weakness, difficulty walking and limitations in physical activities. Standard treatment includes physiotherapy, casting, and surgery. The use of botulinum toxins appears as a promising treatment on its own, but usually as an adjunct to other treatment modalities and as an alternative to surgery. The objectives were to establish the evidence on the effectiveness, safety and functional outcome of BTX-A in children with musculoskeletal conditions. A literature search using five electronic databases identified 24 studies that met our inclusion criteria. Two randomized clinical trials were included; most studies were case studies with small sample sizes and no control group. Improvements in gait pattern, function, range of motion, reduction of co-contractions, and avoidance of surgical procedures were found following BTX-A injections. Adverse events were not reported in 10 studies, minor adverse events were reported in 13 children and there were no severe adverse events. Additional doses appear safe. BTX-A is a promising treatment adjunct in improving functional outcomes in children with musculoskeletal conditions. Future studies including larger samples, longer follow-up periods and a comparison group are required to provide evidence on the effectiveness and safety of this drug in children with musculoskeletal conditions

Expert guidance for the rehabilitation of children with arthrogryposis: protocol using an integrated knowledge translation approach

Arthrogryposis multiplex congenita (AMC) is a group of rare congenital disorders characterized by multiple joint contractures present at birth. Contractures can affect different body areas and impact activities of daily living, mobility and participation. Although early rehabilitation is crucial to promote autonomy and participation in children with AMC, empirical evidence to inform best practice is scarce and clinical expertise hard to develop due to the rarity of AMC. Preliminary research involving stakeholders in AMC (youth with AMC, parents, and clinicians) identified priorities in pediatric rehabilitation. Scoping reviews on these priorities showed a lack of high quality evidence related to rehabilitation in AMC. The objective of this project is to provide rehabilitation expert guidance on the assessment and treatment of children with AMC in the areas of muscle and joint function, pain, mobility and self-care, participation and psychosocial wellbeing

Play and Be Happy? Leisure Participation and Quality of Life in School-Aged Children with Cerebral Palsy

The objective of this study was to examine the association between leisure participation and quality of life (QoL) in school-age children with cerebral palsy (CP). Leisure participation was assessed using the Children’s Assessment of Participation and Enjoyment (CAPE) and QoL using the Pediatric Quality of Life Inventory (PedsQL). Pearson correlation coefficients were calculated to examine the association between CAPE and PedsQL scores, and a multiple linear regression model was used to estimate QoL predictors. Sixty-three children (mean age 9.7±2.1 years; 39 male) in GMFCS levels I–V were included. Intensity of participation in active-physical activities was significantly correlated with both physical (r=0.34, P=0.007) and psychosocial well-being (r=0.31, P=0.01). Intensity and diversity of participation in skill-based activities were negatively correlated with physical well-being (r=−0.39, P=0.001, and r=−0.41, P=0.001, resp.). Diversity and intensity of participation accounted for 32% (P=0.002) of the variance for physical well-being and 48% (P<0.001) when age and gross motor functioning were added. Meaningful and adapted leisure activities appropriate to the child’s skills and preferences may foster QoL

International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita

Arthrogryposis multiplex congenita (AMC) has been described and defined in thousands of articles, but the terminology used has been inconsistent in clinical and research communities. A definition of AMC was recently developed using a modified Delphi consensus method involving 25 experts in the field of AMC from 8 countries. Participants included health care professionals, researchers, and individuals with AMC. An annotation of the definition provides more in‐depth explanations of the different sentences of the AMC definition and is useful to complement the proposed definition. The aim of this study was to provide an annotation of the proposed consensus‐based AMC definition. For the annotation process, 17 experts in AMC representing 10 disciplines across 7 countries participated. A paragraph was developed for each sentence of the definition using an iterative process involving multiple authors with varied and complementary expertise, ensuring all points of view were taken into consideration. The annotated definition provides an overview of the different topics related to AMC and is intended for all stakeholders, including youth and adults with AMC, their families, and clinicians and researchers, with the hopes of unifying the understanding of AMC in the international community

Changes in everyday life after discharge from day care rehabilitation

Community-based day care that provides rehabilitation (DCR) targets elderly people with physical disabilities. The goal of these programmes is mainly to improve physical ability in order to enable participants to remain in their ordinary homes. Knowledge of the outcomes of DCR is limited as well as knowledge of what it is that makes a difference for the individual. The aim of this study was to describe what changes in everyday life elderly persons experienced after discharge from a community-based day care rehabilitation centre and to give possible explanations for these changes. Fifteen elderly people were interviewed after that they had been discharged from DCR. A narrative approach was used for analysing the interview data. Four case stories constitute the findings, each of them with unique descriptions of changes in everyday life as well as possible explanations for these changes. The first case story described resumption of daily activities that made the days more eventful and meaningful. The second described how everyday life became an arena for exercising, which create confidence for the future. The third described how an increased sense of certainty and security in the movements led to an increased appetite for life. Finally, the fourth case story described both the stay at the DCR centre and the promise of a new period there as uplifting that made the days easier. Concerning possible explanations for these changes, the findings indicate that it was a combination of several events that together contributed to the changes. Examples were physical training, counselling about how to live in an active and healthy lifestyle, and socialisation with other patients in formal as well as in informal sessions

Birth Weight, School Sports Ability, and Adulthood Leisure-Time Physical Activity

Purpose This study aimed to examine the associations of birth weight with ability in school sports in adolescence and participation in leisure-time physical activity (LTPA) across adulthood and to investigate whether associations between birth weight and LTPA change with age. Methods Study participants were British singletons born in 1946 and followed up to age 68 yr (the Medical Research Council National Survey of Health and Development). Birth weights were extracted from birth records. Teacher reports of ability in school sports were collected at age 13 yr. LTPA was self-reported at ages 36, 43, 53, 60–64, and 68 yr and categorized at each age as participating in sports, exercise, and other vigorous LTPA at least once per month versus no participation. Associations were examined using standard and mixed-effects logistic regression models. Results Relevant data were available for 2739 study participants (50.1% female). When compared with the low birth weight group (≤2.50 kg), those with heavier birth weights were more likely to be rated as above average or average at school sports (vs below average); fully adjusted odds ratio = 1.78 (95% confidence interval = 1.14–2.77). Across adulthood, those with heavier birth weights were more likely to participate in LTPA than those with low birth weight; fully adjusted odds ratio of LTPA across adulthood = 1.52 (95% confidence interval = 1.09–2.14). This association did not vary by age (P = 0.5 for birth weight by age interaction). Conclusions Low birth weight was associated with lower ability in school sports and with nonparticipation in LTPA across adulthood. Identifying the underlying developmental and social processes operating across life for low birth weight infants may inform the design of appropriate interventions to support participation in LTPA across life

Healthy aging and the University of the Third Age – Health behavior and subjective health outcomes in older adults

Introduction: By participating in the University of the Third Age (U3A), retirees are offered the opportunity for activation and development in the later years of life. However, little is known how certain aspects of healthy aging, such as health-related behavior and subjective health outcomes, differ between U3A students and other older adults not taking part in any form of education. To address this, the aim of the present study was to compare selected aspects of healthy aging in a group of U3A members with older adults not taking part in any form of lifelong learning. The study also establishes relationships between the tested variables and predictors of health behavior. Materials and methods: 277 older adults (130 U3A members and 147 non-members) aged 60–92 (M = 68.84, SD = 5.32) completed measures of health behavior, self-rated physical health, self-rated sense of own health responsibility and satisfaction with life. Results: The U3A attendees presented significantly higher scores for general health behavior and some of its components, and declared higher self-rated health than their peers not affiliated to any educational organization. Self-rated health, responsibility for health and satisfaction with life were positively correlated with general health behavior and most of their categories. but the correlation coefficients differed between both groups. A hierarchical regression model demonstrated the predictive roles of attendance in U3A, sociodemographic and subjective factors in health behavior undertaking. Conclusions: The study results may help to identify older adults who should be targeted in interventions aimed at supporting healthy aging

The Human Phenotype Ontology in 2024: phenotypes around the world

\ua9 The Author(s) 2023. Published by Oxford University Press on behalf of Nucleic Acids Research. The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs