Risdiplam for the treatment of adults with spinal muscular atrophy: Experience of the Northern Ireland neuromuscular service.

INTRODUCTION/AIMS: Risdiplam is the newest available treatment for patients with spinal muscular atrophy (SMA). There is little information on its use in adults. We present the clinical experience of adults with SMA treated with risdiplam through the Early Access to Medicines Scheme (EAMS) in Northern Ireland. METHODS: All adults with Type 2 SMA attending the regional neuromuscular clinic were offered risdiplam treatment. Patients had assessments of respiratory function, the Epworth Sleepiness Scale (ESS), Quality of Life Measure for People with Slowly Progressive and Genetic Neuromuscular Disease (QOLM), and Egen Klassifikation 2 (EK2) every 3 mo and the Revised Upper Limb Module for SMA (RULM) at baseline and 6 mo. All assessments other than the RULM were carried out virtually. RESULTS: Six of seven patients who were offered risdiplam consented to treatment through the EAMS (five female, one male, mean age 33.7 y). It was generally well tolerated other than skin photosensitivity in all patients. All patients remained on therapy at 9 mo. All reported meaningful improvements in overall strength, sense of wellbeing, and speech quality. There was no change in respiratory function, daytime hypersomnolence, or upper limb function (all p > .05). There was improvement in the QOLM (p = .027) and EK2 (p = .009). DISCUSSION: Our study raises hopes that risdiplam may be efficacious in adults; however, more systematic studies in larger cohorts are needed before drawing any definitive conclusions. This study also demonstrated the feasibility of virtual assessments.

Parenting in the time of COVID-19: Insights and lessons from parents of international school children

The closure of school buildings due to COVID-19 and the resulting rapid transition to online education dramatically altered the lives of educators, students and parents. While previous literature demonstrates the vital role of parents in effective online education (Hattie, 2020;Liu et al, 2010), pre-pandemic literature focuses on parents and students who have opted in to online education. As such, the outbreak of COVID-19 has presented new challenges for understanding the relationship between parents and their child/ren's online learning. Since the start of the pandemic, studies have emerged exploring parental experience adjusting to their child/ren's online remote learning (Bhamani et al, 2020;Brom et al, 2020;Dong et al, 2020;Garbe et al, 2020;Lee et al, 2021). However, less is known about the online learning experiences during COVID-19 of families with children enrolled within international schools. Accordingly, the present study draws upon insights from 44 parents of children attending international schools who took part in 22 focus groups, across three countries and in three languages. The study investigates the parental experience with online education and unpacks four themes that emerged from the data: challenges faced by parents, parental perception of their child/ren's wellbeing, impressions of the learning quality and parental suggestions for consideration by school leadership. With these findings, school leaders have a unique opportunity to leverage lessons learned and support parental growth so that families, educators and students may all contribute to the promise of a brighter educational future.

Adapting and Enduring: Lessons Learned from International School Educators During COVID-19

With the outbreak of COVID-19 in early 2020, school buildings across the globe closed, leading educators, students and families to transition rapidly to online education. It is clear that schools will in the future continue to employ online learning, even as students and educators return to school buildings. While the education community has over a number of years generated a range of practical tips and guidance about online education?especially since the onset of COVID-19?many are not supported by research (DiPietro et al., 2010) and neglect international school settings (Barbour, 2014). This study investigates the experiences of sixty-one K-12 international educators via nineteen focus groups, contributing to the literature base on pedagogical, leadership and practical strategies needed to support effective online learning. Four lessons learned emerged from the data: technological challenges are exacerbated during a crisis;educators adapted to revise pedagogical strategies when under pressure;student and parent experiences were inconsistent and complex;and school leaders play an important role during a transition to online education. Although COVID-19 posed challenges, educators are resilient, adaptable, and deeply committed to student learning. School leaders now have an opportunity to reconstruct a model of education which offers students the best of face-to-face learning augmented by the most effective use of virtual technologies. This is more than planning for potential crises;this is reimagining the future of education.