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

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

The Human Phenotype Ontology in 2024: phenotypes around the world.

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

Moyens de transport et la participation sociale chez les aînés habitant dans la communauté

This thesis is comprised of a literature review on the topic of social participation in the elderly, and a study examining the association between primary transportation mode used and social participation in community-dwelling seniors. A review of the literature showed that social participation in the elderly is associated with survival, health-related quality of life, functional ability, emotional well-being, and cognitive skills, and is also influenced by personal and environmental factors. The study indicated that primary mode of transportation used by seniors living in the community is associated with social participation; those driving, walking or using public transport had overall greater social participation than passengers and those using adapted transport/taxi. These findings are of interest to rehabilitation professionals and researchers working in gerontology, as well as to policy makers, since facilitating the use of readily available transportation modes is primordial to maintaining social participation of seniors living in the community

Radiological and clinical findings following distraction osteogenesis of the lower limb in children with or without botox injection: A preliminary report

Context: Limb lengthening correction according to Ilizarov distraction osteogenesis (DO) usually yields excellent results. While pediatric orthopedic surgeons anecdotally report that botulinum toxin A (Botox) alleviates spasm and pain during DO, no study has examined the effects of this surgery and Botox injection on muscle morphology in children. Aims: (1) To evaluate the clinical and radiological effects of lower limb lengthening in children and (2) the effects of adjunctive Botox muscle injection. Setting and Design: This was a center and randomized control trial. Methods: Seven children underwent tibial (n = 3) or femoral lengthening (n = 4) and were randomized to receive either a Botox or sterile saline solution. Quality of life and functional mobility outcomes, muscle testing, and magnetic resonance imaging examination were obtained at baseline, 12-, and 24-month postoperative. Muscle measurements were acquired on axial T1-weighted images and included: (1) total cross-sectional area (TCSA), (2) functional cross-sectional area (FCSA, fat-free area), (3) ratio of FCSA to TCSA, and (4) asymmetry between sides. Results: Physical performance improved at 12- and 24-month postoperative. Muscle strength remained functional across the three time points. A decrease in TCSA and FCSA was observed at 12-month follow-up in the operated thigh of patients undergoing femur lengthening, but muscle mass was regained at 24 months. However, TCSA and FCSA remained lower in the operated femur at 24 months. Similar findings were also observed in patients who underwent tibial lengthening. Patients in the Botox group appeared to have a slightly greater decrease in muscle mass and increase in fatty infiltration in the operated leg. Conclusions: Children undergoing DO preserved their muscle strength and improved physical performance 2-year postoperative. Our results suggest that muscle size and muscle mass remained lower in the operated leg; a finding that was slightly more prominent in children who received a Botox injection

Patient and Parent Experiences with Group Telerehabilitation for Child Survivors of Acute Lymphoblastic Leukemia

Background: Acute Lymphoblastic Leukemia (ALL) is the most common pediatric cancer. ALL and its treatment cause altered bone-mineral homeostasis, which can contribute to musculoskeletal late adverse effects (LAEs). With the increasing number of childhood cancer survivors, LAEs are reported often, and are aggravated by inactive lifestyles. A telerehabilitation program is proposed to strengthen the muscle–bone complex and prevent future impairment. Objective: This study aimed to explore and better understand patient and parent experience of a telerehabilitation program after completion of ALL treatment. Methods: ALL survivors (n = 12), 75% girls, 7.9 to 14.7 years old, within six months to five years of treatment, were recruited to participate in the proposed study, along with a parent. The 16-week group program included 40 potential home-based physical activities, with monthly progression, supervised by a kinesiologist, through an online telerehabilitation platform. Patients could be included in the study if they joined during the first month of intervention of their group (minimum 12 weeks of intervention). A semi-structured post-intervention interview was conducted with the patients and their parent during the final assessment, along with a review of the kinesiologist’s clinical notes, to obtain a portrait of the participants’ experience with the telerehabilitation program. Overarching themes were identified by one author and confirmed by two senior authors before extracting the various aspects of each theme. Results: Of the 12 patients recruited, three were excluded from the analysis because they did not complete the minimum 12 weeks of intervention (one = relapse, one = failure to meet technical requirements, and one = abandoned due to parent’s disinterest). The nine patients who completed the program (six girls; 10.93 ± 2.83 years) had a mean adherence of 89%. The overarching themes identified were the program modalities (group approach with patient–parent paired training, supervised by a kinesiologist), the telerehabilitation system, the participants’ perception of the benefits, and recommendations and suggestions from the families. Both patients and parents expressed very high satisfaction with the program and perceived benefits. Conclusion: Participants appreciated the program and reported they would all recommend it to other families in similar situations. The telerehabilitation method of service delivery was perceived by some as decisive in choosing to participate, while the supervision and intra- and inter-family interactions were the motivating factors that were key to program adherence

Involving Families with Osteogenesis Imperfecta in Health Service Research: Joint Development of the OI/ECE Questionnaire.

BACKGROUND:Despite the growing interest in understanding the psycho-social impact of rare genetic diseases, few studies examine this concept and even fewer seek to obtain feedback from families who have lived the experience. The aim of this project was to involve families of children living with osteogenesis imperfecta (OI) in the development of a tool to assess the impact of OI on the lives of patients and their families. METHODS:This project used an integrated knowledge translation approach in which knowledge users (clinicians and people living with OI and their families) were consulted throughout the four steps of development, that is: content mapping, item generation, tool appraisal and pre-testing of the questionnaires. The International Classification of Functioning and Health was used as a framework for content mapping. Based on a scoping review we selected two validated tools to use as a basis for developing the questionnaire. The final parent self-report version measured six domains: experience of diagnosis; use of health services; use of social and psychological support services; expectations about tertiary specialized centers; and socio-demographic information. RESULTS:A total of 27 out of 40 families receiving care at the Shriners Hospital for Children-Canada and invited to participate in the pre-test returned the completed questionnaires. In more than two-thirds of families (69%; n = 18) OI was suspected either at or within the first 3 months after birth. Up to 46% of families consulted between 3 and 5 doctors (46%; n = 12) prior to final diagnosis. The use of services by families varied from 0 to 16 consultations, 0 to 9 exploratory examinations and 1 to 10 types of allied health services. In the 12 months prior to the study, fewer than a quarter of children had been admitted, for treatment, for hospital stays of longer than 8 hours or to an emergency department (24% and 9% respectively). Only 29% of parents received psychological support. CONCLUSION:This joint development process generated a tool, with good psychometric properties, that provides unique insight into the experiences of patients and families with OI, the psycho-social impact of the illness, and their service needs and expectations