We aimed to explore the prevalence of peroneal neuropathy in children during coronavirus disease-19 (COVID-19) pandemic.

Since the COVID-19 outbreak, many children worldwide have experienced a dramatic lifestyle changes, including conducting most daily activities indoors. Peroneal nerve palsy is one of the most common entrapment neuropathies and circumstances as prolonged immobilization or leg crossing predisposes an individual to peroneal neuropathy.

This is a case–control retrospective study that included patients referred to our neurophysiology clinic with foot drop. We compared the prevalence of spontaneous peroneal neuropathy 1 year before (April 2019/March 2020) and 1 year during the COVID-19 pandemic (April 2020/March 2021); and we also continued collecting data prospectively between April and September 2021 analysis the whole pandemic period.

Totally, 399 patient clinical notes and NCS/EMG reports were reviewed, 220 were evaluated 1 year before and 179 1 year during COVID-19 pandemic. During the COVID-19 pandemic, there was a higher prevalence of peroneal neuropathy (odds ratio 4.74, 95%CI 1.30–17.25, p = 0.0183). In the COVID group (n = 11), mean age was 14 years and 63.4% were males. Mean age was 15 years and 66.7% were males in the Control group (n = 3). There was a significant difference in the time from symptoms onset to the neurophysiology assessment, with a mean time of 14 days in the Control group and 87.5 days in the COVID group.

This study provides evidence that during the COVID-19 pandemic period, there was a higher prevalence of peroneal neuropathy among children. Strategies to prevent peroneal neuropathy should be recommened to this age group.

Spinal muscular atrophy (SMA) is characterized by the progressive loss of motor neurons causing muscle atrophy and weakness. Nusinersen, the first effective SMA therapy was approved by Health Canada in June 2017 and has been added to the provincial formulary of all but one Canadian province. Access to this effective therapy has triggered the inclusion of SMA in an increasing number of Newborn Screening (NBS) programs. However, the range of disease-modifying SMN2 gene copy numbers encountered in survival motor neuron 1 (SMN1)-null individuals means that neither screen-positive definition nor resulting treatment decisions can be determined by SMN1 genotype alone. We outline an approach to this challenge, one that specifically addresses the case of SMA newborns with four copies of SMN2.

To develop a standardized post-referral evaluation pathway for babies with a positive SMA NBS screen result.

An SMA NBS pilot trial in Ontario using first-tier MassARRAY and second-tier multi-ligand probe amplification (MLPA) was launched in January 2020. Prior to this, Ontario pediatric neuromuscular disease and NBS experts met to review the evidence regarding the diagnosis and treatment of children with SMA as it pertained to NBS. A post-referral evaluation algorithm was developed, outlining timelines for patient retrieval and management.

Ontario’s pilot NBS program has created a standardized path to facilitate early diagnosis of SMA and initiation of treatment. The goal is to provide timely access to those SMA infants in need of therapy to optimize motor function and prolong survival.

Spinal muscular atrophy (SMA) is a devastating rare disease that affects individuals regardless of ethnicity, gender, and age. The first-approved disease-modifying therapy for SMA, nusinursen, was approved by Health Canada, as well as by American and European regulatory agencies following positive clinical trial outcomes. The trials were conducted in a narrow pediatric population defined by age, severity, and genotype. Broad approval of therapy necessitates close follow-up of potential rare adverse events and effectiveness in the larger real-world population.

The Canadian Neuromuscular Disease Registry (CNDR) undertook an iterative multi-stakeholder process to expand the existing SMA dataset to capture items relevant to patient outcomes in a post-marketing environment. The CNDR SMA expanded registry is a longitudinal, prospective, observational study of patients with SMA in Canada designed to evaluate the safety and effectiveness of novel therapies and provide practical information unattainable in trials.

The consensus expanded dataset includes items that address therapy effectiveness and safety and is collected in a multicenter, prospective, observational study, including SMA patients regardless of therapeutic status. The expanded dataset is aligned with global datasets to facilitate collaboration. Additionally, consensus dataset development aimed to standardize appropriate outcome measures across the network and broader Canadian community. Prospective outcome studies, data use, and analyses are independent of the funding partner.

Prospective outcome data collected will provide results on safety and effectiveness in a post-therapy approval era. These data are essential to inform improvements in care and access to therapy for all SMA patients.