RESUMEN
BACKGROUND: The participation of children with disabilities in leisure activities is a key determinant of their physical and mental health. The COVID-19 pandemic has limited participation in leisure activities for all children, particularly those with disabilities. As a result, children with disabilities may be less active while feeling more isolated and stressed. Web-based communities and activities have become increasingly important. Understanding how web-based activities include or exclude children with disabilities can contribute to the development of inclusive communities that may support participation after the pandemic. OBJECTIVE: This study aimed to identify factors that may facilitate or prevent the participation of children with disabilities in web-based leisure activities. METHODS: We adopted a qualitative descriptive interpretative methodology and conducted interviews with 2 groups of participants: service providers offering inclusive web-based leisure activities and parents of children with disabilities who have engaged in web-based leisure activities during the COVID-19 pandemic. A semistructured interview format was created based on the Theoretical Domains Framework. The questions focused on the description of the web-based activities offered by the service provider (eg, age range, frequency, cost, target population, and type of activity offered) and any adaptations to make the web-based activity accessible to children and youth with disabilities, and their perceptions and beliefs about what supported or deterred participation in the activities. RESULTS: A total of 17 participants described their experiences in participating in and creating web-based leisure programs and the factors preventing or facilitating children's participation in web-based activities. Environment and context factors included accommodations, the format of activities and the web-based setting, stakeholder involvement, and materials and resources available. Activities that had flexible schedules, both recorded and live options for joining, and that provided clear instructions and information were perceived as more accessible. Beliefs involved the characteristics of the child and the family environment, as well as the characteristics of the organizations providing the activity. Activity facilitators who were familiar with the web-based environment and knew the specific characteristics of the child facilitated their participation. Engagement in community champions and respect for children's individual preferences were perceived as positive. Access to technology, funding, and caregivers' ability to facilitate child engagement are crucial factors that must be considered when offering web-based programs. CONCLUSIONS: Web-based environments offer an accessible and safe option for leisure participation when public health conditions prevent children with disabilities from participating in in-person activities. However, to make web-based activities accessible to children with a variety of disabilities, there needs to be a clear plan toward universal web-based accessibility that accounts for individual needs and collective approaches to web-based leisure. Future work should consider developing and testing guidelines for web-based accessibility, equity, public policy, and programming considerations in offering these activities for all children.
RESUMEN
In vertebrates, the planar cell polarity (PCP) pathway regulates tissue morphogenesis during organogenesis, including the kidney. Mutations in human PCP effector proteins have been associated with severe syndromic ciliopathies. Importantly, renal hypoplasia has been reported in some patients. However, the developmental disturbance that causes renal hypoplasia is unknown. Here, we describe the early onset of profound renal hypoplasia in mice homozygous for null mutation of the PCP effector gene, Fuzzy. We found that this phenotype is caused by defective branching morphogenesis of the ureteric bud (UB) in the absence of defects in nephron progenitor specification or in early steps of nephrogenesis. By using various experimental approaches, we show that the loss of Fuzzy affects multiple signaling pathways. Specifically, we found mild involvement of GDNF/c-Ret pathway that drives UB branching. We noted the deficient expression of molecules belonging to the Bmp, Fgf and Shh pathways. Analysis of the primary cilia in the UB structures revealed a significant decrease in ciliary length. We conclude that renal hypoplasia in the mouse Fuzzy mutants is caused by defective UB branching associated with dysregulation of ciliary and non-ciliary signaling pathways. Our work suggests a PCP effector-dependent pathogenetic mechanism that contributes to renal hypoplasia in mice and humans.
