Management of primary headache (PHA) varies across emergency departments (ED), yet there is widespread agreement that computed tomography (CT) scans are overused. This study assessed emergency physicians’ (EPs) PHA management and their attitudes towards head CT ordering.

A cross-sectional study was undertaken with EPs from one Canadian center. Drivers of physicians’ perceptions regarding the appropriateness of CT ordering for patients with PHA were explored.

A total of 73 EPs (70% males; 48% with <10 years of practice) participated in the study. Most EPs (88%) did not order investigations for moderate-severe primary headaches; however, CT was the common investigation (47%) for headaches that did not improve. Computed tomography ordering was frequently motivated by the need for specialist consultation (64%) or admission (64%). A small proportion (27%) believed patients usually/frequently expected a scan. Nearly half of EPs (48%) identified patient imaging expectations/requests as a barrier to reducing CT ordering. Emergency physicians with CCFP (EM) certification were less likely to perceive CT ordering for patients with PHA as appropriate. Conversely, those who identified the possibility of missing a condition as a major barrier to limiting their CT use were more likely to perceive CT ordering for patients with PHA as appropriate.

Emergency physicians reported consistency and evidence-based medical management. They highlighted the complexities of limiting CT ordering and both their level of training and their perceived barriers for limiting CT ordering seem to be influencing their attitudes. Further studies could elucidate these and other factors influencing their practice.

Levodopa-carbidopa intestinal gel (LCIG) therapy has been shown to be a safe and effective treatment for advanced Parkinson’s disease (PD). Limited data are available regarding long-term benefits and complications in Canada. Objective of the study was to review long-term experience and clinical outcomes in PD patients with LCIG therapy over 11 years in a multidisciplinary University clinic setting.

Chart review was done on PD patients with LCIG from 2011 to 2022. Data collected: dosing, UPDRS-III motor scores, OFF times, hours with dyskinesias, MoCA, complications, discontinuation reasons, and nursing time requirements.

Thirty-three patients received LCIG therapy with a mean follow-up of 3.25±2.09 years. UPDRS-III scores showed reduction of 15% from baseline (mean 35.9) up to 4 years (mean 30.4). Daily OFF time improved from baseline (mean 7.1 ± 3.13 hours) up to 5 years (mean 3.3 ± 2.31 hours; −53.5%; p < 0.048), and dyskinesias remained stable. Nursing time averaged 22 hours per patient per year after PEG-J insertion and titration. Most common complications were PEG-J tube dislodgement and stoma site infection (0–3zero to three events/patient/year). Serious side effects were seen in four (12%) patients resulting in hospitalization and/or death. Nine patients (27.2%) discontinued the treatment due to lack of improved efficacy over oral therapy or development of dementia and 10 (30%) died of causes unrelated to LCIG infusion.

Patients on LCIG showed improved motor function over 5-year follow-up. Serious complications were uncommon. Dedicated nursing time is required by LCIG-trained nurses in a multidisciplinary setting for optimum management.

Cardiac sources of emboli can be identified by transthoracic echocardiogram (TTE). The Canadian Best Practice Guidelines recommend routine use of TTE in the initial workup of ischemic stroke when an embolic source is suspected. However, TTEs are commonly ordered for all patients despite insufficient evidence to justify cost-effectiveness. We aim to evaluate the TTE ordering pattern in the initial workup of ischemic stroke at a regional Stroke Center in Central South Ontario and determine the proportion of studies which led to a change in management and affected length of stay (LOS).

Hospital records of 520 patients with a discharge diagnosis of TIA or ischemic stroke between October 2016 and June 2017 were reviewed to gather information

477 patients admitted for TIA or ischemic stroke met inclusion criteria. 67.9% received TTE, out of which 6.0% had findings of cardiac sources of emboli including left ventricular thrombus, atrial septal aneurysm, PFO, atrial myxoma, and valvular vegetation. 2.5% of all TTE findings led to change in medical management. The median LOS of patients who underwent TTE was 2 days longer (p < 0.00001).

TTE in the initial workup of TIA or ischemic stroke remains common practice. The yield of TTEs is low, and the proportion of studies that lead to changes in medical management is minimal. TTE completion was associated with increased LOS and may result in increased healthcare spending; however, additional factors prolonging the LOS could not be excluded.

The relationship between migraine and alcohol consumption is unclear. We assessed the association between chronic migraine and alcohol use disorder(AUD), relative to chronic disease controls, and in conjunction with common comorbidities.

We conducted a retrospective, observational study. The primary outcome was the odds ratio for AUD in patients with chronic migraine or with chronic migraine and additional comorbidities relative to controls.

A total of 3701 patients with chronic migraine, 4450 patients with low back pain, and 1780 patients with type 2 diabetes mellitus met inclusion criteria. Patients with chronic migraine had a lower risk of AUD relative to both controls of low back pain (OR 0.37; 95% CI: 0.29–0.47, p < 0.001) and type 2 diabetes mellitus (OR 0.39; 95% CI: 0.29–0.52, p < 0.001). Depression was associated with the largest OR for AUD in chronic migraine (OR 8.62; 95% CI: 4.99–14.88, p < 0.001), followed by post-traumatic stress disorder (OR 6.63; 95% CI: 4.13–10.64, p < 0.001) and anxiety (OR 3.58; 95% CI: 2.23–5.75, p < 0.001).

Patients with chronic migraine had a lower odds ratio of AUD relative to controls. But in patients with chronic migraine, those with comorbid depression, anxiety, or PTSD are at higher risk of AUD. When patients establish care, comorbid factors should be assessed and for those at higher risk, AUD should be screened for at every visit.

For multiply recurrent glioma, options are few and choices are very limited. Etoposide in combination with carboplatin and/or bevacizumab has been evaluated in recurrent glioma with modest efficacy. This retrospective study describes the efficacy of etoposide monotherapy in adults with multiply recurrent diffuse glioma.

In this single center retrospective series, all adult patients with radiographically proven multiply recurrent diffuse glioma (WHO grade 2–4) treated with etoposide between 2016 and 2020 were evaluated. Progression-free survival (PFS) and overall survival (OS) after initiating etoposide were calculated for the total group and for different histologic tumor types. In addition, treatment-related toxicity was recorded.

Totally, 48 patients with a median age 43 years-old (range 24–78) were included. Etoposide was given as 3rd line of treatment in 18 patients (37.5%) and as 4th or 5th line of treatment in 30 patients (62.5%). The majority were diagnosed with a glioblastoma, WHO grade 4 (27, 56.3%). The median PFS was 8.6 weeks (95% confidence interval [CI]: 8.3–8.9). The median OS of the total population was 4.0 months (95% CI: 2.4–5.6). Patients with an oligodendroglioma had the best OS (median 13 months), compared to astrocytoma and glioblastoma, but the difference was not statistically significant (p = 0.15). Etoposide was stopped due to progression in the majority of the patients (81.3%). Only 1 patient had a grade 3 toxicity.

Etoposide is a well-tolerated chemotherapy in heavily pretreated patients with multiply recurrent glioma and could be considered when other options are not available. OS was 4 months after initiating etoposide.

Cognitive changes that result from cerebrovascular disease contribute to a poor functional outcome with reduced quality of life. Among patients undergoing endovascular therapy (EVT), we aim to assess cognitive function and evaluate the impact of reperfusion time in cognitive performance.

Patients with acute right anterior circulation strokes that underwent EVT between January 2018 and August 2020 at Centro Hospitalar de Vila Nova de Gaia/Espinho, participated in the study. Modified treatment in cerebral infarction (mTICI) assessed the level of recanalization. Cognitive evaluation was assessed with Addenbrooke’s Cognitive Examination revised (ACE-R). Multiple linear regression analyses were used to determine the association between time for recanalization and ACE-R. The level of significance adopted was 0.05.

The mean age of participants was 71.5 (interquartile range [IQR] 62.0–78.2) years, and 50% (22) were women. The median time after stroke was 28.6 months (IQR 18.94–31.55). All patients in our sample had a successful level of recanalization with EVT (mTICI ≥ 2b). Time for recanalization showed an inverse association with the ACE-R (b = −0.0207, P = 0.0203). Also the mRS at 3 months had an inverse association with cognition (b = −5.2803, p = 0.0095). Level of education had a strong and direct relationship with ACE-R results (b = 3.0869, p < 0.0001).

Longer time between stroke symptoms and recanalization with EVT in patients with right hemisphere ischemic stroke lead to lower ACE-R scores. Measures to improve door-to-recanalization time are also important for cognitive performance after ischemic stroke.

To conduct feasibility and cost analysis of portable MRI implementation in a remote setting where MRI access is otherwise unavailable.

Portable MRI (ultra-low field, 0.064T) was installed in Weeneebayko General Hospital, Moose Factory, Ontario. Adult patients, presenting with any indication for neuroimaging, were eligible for study inclusion. Scanning period was from November 14, 2021, to September 6, 2022. Images were sent via a secure PACS network for Neuroradiologist interpretation, available 24/7. Clinical indications, image quality, and report turnaround time were recorded. A cost analysis was conducted from a healthcare system’s perspective in 2022 Canadian dollars, comparing cost of portable MRI implementation to transporting patients to a center with fixed MRI.

Portable MRI was successfully implemented in a remote Canadian location. Twenty-five patients received a portable MRI scan. All studies were of diagnostic quality. No clinically significant pathologies were identified on any of the studies. However, based on clinical presentation and limitations of portable MRI resolution, it is estimated that 11 (44%) of patients would require transfer to a center with fixed MRI for further imaging workup. Cost savings were $854,841 based on 50 patients receiving portable MRI over 1 year. Five-year budget impact analysis showed nearly $8 million dollars saved.

Portable MRI implementation in a remote setting is feasible, with significant cost savings compared to fixed MRI. This study may serve as a model to democratize MRI access, offer timely care and improved triaging in remote areas where conventional MRI is unavailable.

Contact heat is commonly used in experimental research to evoke brain activity, most frequently acquired with electroencephalography (EEG). Although magnetoencephalography (MEG) improves spatial resolution, using some contact heat stimulators with MEG can present methodological challenges. This systematic review assesses studies that utilise contact heat in MEG, their findings and possible directions for further research.

Eight electronic databases were searched for relevant studies, in addition to the selected papers' reference lists, citations and ConnectedPapers maps. Best practice recommendations for systematic reviews were followed. Papers met inclusion criteria if they used MEG to record brain activity in conjunction with contact heat, regardless of stimulator equipment or paradigm.

Of 646 search results, seven studies met the inclusion criteria. Studies demonstrated effective electromagnetic artefact removal from MEG data, the ability to elicit affective anticipation and differences in deep brain stimulation responders. We identify contact heat stimulus parameters that should be reported in publications to ensure comparisons between data outcomes are consistent.

Contact heat is a viable alternative to laser or electrical stimulation in experimental research, and methods exist to successfully mitigate any electromagnetic noise generated by PATHWAY CHEPS equipment – though there is a dearth of literature exploring the post-stimulus time window.

This study aimed to investigate the characteristics and prognosis of patients with alcoholic Marchiafava–Bignami disease (MBD), a rare neurological disorder commonly associated with chronic alcoholism, in Chongqing, China.

We conducted a retrospective analysis of clinical data from 21 alcoholic MBD patients treated at the First Affiliated Hospital of Chongqing University between 2012 and 2022.

The study included 21 patients with alcoholic MBD who had a mean age of 59 ± 9.86 years and an average drinking history of 35.48 ± 8.65 years. Acute onset was observed in 14 (66.7%) patients. The primary clinical signs observed were psychiatric disorders (66.7%), altered consciousness (61.9%), cognitive disorders (61.9%), and seizures (42.9%). Magnetic resonance imaging revealed long T1 and long T2 signal changes in the corpus callosum, with lesions predominantly found in the genu (76.2%) and splenium (71.4%) of the corpus callosum. The poor prognosis group demonstrated an increased incidence of altered consciousness (100% vs 50%, P = 0.044), pyramidal signs (80% vs 18.8%, P = 0.011), and pneumonia (100% vs 31.3%, P = 0.007). Patients with a longer drinking history (45.0 ± 10.0 years vs 32.69 ± 5.99 years, p = 0.008) and a lower thiamine dose (p = 0.035) had a poorer prognosis at 1 year.

This study identified altered consciousness, pyramidal signs, and pneumonia as predictors of a poor prognosis in patients with alcoholic MBD. A longer duration of alcohol consumption and inadequate thiamine supplementation were associated with a poorer prognosis.

It is unknown if the COVID-19 pandemic and public health measures had an immediate impact on stroke subtypes and etiologies in patients not infected with COVID-19. We aimed to evaluate if the proportion of non-COVID-19-related stroke subtypes (ischemic vs. hemorrhagic) and etiologies (cardioembolic, atherosclerosis, small vessel disease, and others) during the pandemic’s first wave were different from prepandemic.

For this retrospective cohort study, we included patients without COVID-19 with ischemic or hemorrhagic stroke at two large Canadian stroke centers between March–May 2019 (prepandemic cohort) and March–May 2020 (pandemic cohort). Proportions of stroke subtypes and etiologies were compared between cohorts using chi-square tests.

The prepandemic cohort consisted of 234 stroke patients and the pandemic cohort of 207 stroke patients. There were no major differences in baseline characteristics. The proportions of ischemic versus hemorrhagic stroke were similar (ischemic stroke: 77% prepandemic vs. 75% pandemic; hemorrhagic stroke:12% prepandemic vs. 14% pandemic; p > 0.05). There were no differences in etiologies, except for a decreased proportion of ischemic stroke due to atherosclerosis in the pandemic cohort (26% prepandemic vs. 15% pandemic; difference: 10.6%, 95%CI: 1.4-19.7; p = 0.03). Notably, during the pandemic, the cause of ischemic stroke was more often unknown because of incomplete work-up (13.3% prepandemic vs. 28.2% pandemic, difference: 14.9%, 95%-CI: 5.7–24.2; p = <0.01).

In this study, the pandemic had no clear effect on stroke subtypes and etiologies suggesting a limited impact of the pandemic on stroke triggers. However, the shift from atherosclerosis toward other causes warrants further exploration.

There is a paucity of data on the obstetrical outcomes of Canadian pregnant patients with epilepsy, which may differ from the average Canadian pregnancy and from other populations of pregnant patients with epilepsy.

Pregnant patients with epilepsy were identified from a prospectively collected database of patients seen at the maternal-fetal medicine obstetrics program of Mount Sinai Hospital (Toronto, Canada) between January 1, 2014, and November 20, 2020. Pregnancy, delivery, and neonatal outcome data were retrieved from this database and described using 95% binomial confidence intervals. Comparisons of obstetrical outcomes over the same period among the Canadian population average, obtained from publicly available national health data, were done using one-proportion Z-tests for nominal variables and one-sample t-tests for continuous variables.

In total, 282 pregnancies, from 224 patients, were included, which resulted in 274 live births. Mean maternal age was 32.8 years (s.d. = 4.6; population average [μ] = 30.9; p < 0.01), and 53% were primiparous (CI95% = 49%–61%; μ = 43%; p < 0.01). The observed rates of obstetrical complications were gestational hypertension 9% (CI95%=6%–13%; μ=7%; p=0.19), gestational diabetes 5% (CI95% = 3%–8%; μ = 9%; p = 0.02), cesarean section 44% (CI95% = 38%–50%; μ = 28%; p < 0.01), postpartum hemorrhage 5% (CI95% = 3%–8%; μ = 0.5%; p < 0.01), stillbirth 1% (CI95% = 0%–2%; μ=1%; p > 0.99), and prematurity 9% (CI95% = 6%–13%; μ = 8%; p = 0.44).

In this cohort of Canadian pregnant patients with epilepsy from an urban tertiary care center, observed rates of obstetrical complications were rare and no higher than in the Canadian population over the same period, with the exception of cesarean section and postpartum hemorrhage. Future prospective studies that include primary care and rural settings are needed to increase the generalizability of those results.

Paresis of muscle groups in patients with amyotrophic lateral sclerosis (ALS) tends to present split phenomena. We explored the split phenomenon of fasciculation in multiple antagonistic muscle groups in ALS patients.

One hundred and forty ALS patients and 66 non-ALS patients were included from a single ALS center. Muscle ultrasonography (MUS) was performed to detect fasciculation in elbow flexor-extensor, wrist flexor-extensor, knee flexor-extensor, and ankle flexor-extensor. Split phenomena of fasciculation between different antagonistic muscle groups were summarized, and the possible influence factors were analyzed through stratified analysis.

The frequency of split phenomenon of fasciculation intensity was significantly higher than those of muscle strength (26.1% vs. 7.1% for elbow flexor-extensor, 38.3% vs. 5.7% for wrist flexor-extensor, 37.9% vs. 3.0% for knee extensor-flexor, and 33.6% vs. 14.4% for ankle flexor-extensor) (P < 0.01). For muscles with 0–1 level of muscle strength (the Medical Research Council, MRC, score), significance difference in mean fasciculation intensity was observed only in ankle flexor-extensor. For muscles with 2–5 level of muscle strength, significant dissociation of fasciculation grade was common, especially among patients with slow rapid progression rate and both upper and lower motor neuron (UMN and LMN) involvement. As for non-ALS patients, no significant difference was observed in fasciculation intensity between antagonistic muscles.

Split phenomenon of fasciculation between antagonistic muscles was common and relatively specific in ALS patients. Muscle strength, progression rate, and UMN involvement were influence factors of the split phenomenon of fasciculation intensity.

Early-onset Parkinson’s disease (EOPD) refers to patients with Parkinson’s disease (PD) whose age at disease onset is less than 50 years. Literature on the non-motor symptoms (NMS) in these patients is very limited in the Indian context. We aimed to study the NMS in patients with EOPD and its impact on the quality of life (QoL).

We included 124 patients with EOPD with a mean age at disease onset between 21 and 45 years and 60 healthy controls (HC). NMS were assessed using validated scales, and the QoL domains were evaluated using the PD QoL–39 scale (PDQ-39).

The mean age at disease onset in EOPD patients was 37.33 ± 6.36 years. Majority of the patients were male (66.12%). The average disease duration was 6.62 ± 5.3 years. EOPD patients exhibited a significantly higher number of NMS per patient (7.97 ± 4.69) compared to HC (1.3 ± 1.39; p < 0.001). The most common NMS reported were urinary dysfunction, body pain, poor sleep quality, constipation, anxiety, depression, cognitive impairment, and REM sleep behavior disorder. The total NMS burden correlated with the QoL measures. Distinctive patterns of QoL subdomain involvement were identified, with sleep/fatigue, mood/cognition, and urinary dysfunction independently influencing QoL metrics.

Our study provides valuable insights into the NMS profile and its impact on QoL in patients with EOPD, addressing an important knowledge gap in the Indian context. By understanding the specific NMS and their influence on QoL, healthcare professionals can develop targeted interventions to address these symptoms and improve the overall QoL.

Genetic association studies have not produced consistent results in restless legs syndrome (RLS).

To conduct a systematic review on genetic association studies in RLS to highlight the common gene variants and ethnic differences.

We conducted Pubmed, Embase, and Cochrane search using terms “Genetic association studies” and “restless legs syndrome” for candidate gene-based studies. Out of the initial 43 studies, 18 case control studies (from 2012 to 2022) were included. Thirteen studies including 10794 Caucasian subjects (4984 RLS cases and 5810 controls) and five studies involving 2009 Asian subjects (796 RLS cases and 1213 controls) were tabulated and analyzed. In addition, three Genome-Wide Association Studies (GWAS) in Asians and Europeans/Caucasians were included for comparisons.

In the Asian population, gene variants in BST1, SNCA Rep1, IL1B, BTBD9, and MAP2K5/SKOR1 increased the risk of RLS (odds ratio range 1.2–2.8). In Caucasian populations, examples of variants that were associated with an increased risk of RLS (odds ratio range 1.1–1.9) include those in GABRR3 TOX3, ADH1B, HMOX1, GLO1, DCDC2C, BTBD9, SKOR1, and SETBP1. Based on the meta-analysis of GWAS studies, the rs9390170 variant in UTRN gene was identified to be a novel genetic marker for RLS in Asian cohorts, whereas rs113851554 in MEIS1 gene was a strong genetic factor among the >20 identified gene variants for RLS in Caucasian populations.

Our systemic review demonstrates that multiple genetic variants modulate risk of RLS in Caucasians (such as MEIS1 BTBD9, MAP2K5) and in Asians (such as BTBD9, MAP2K5, and UTRN).

To assess if intravenous thrombolysis (IVT) affects the risk of recurrent preoperative cerebrovascular events before carotid surgery or stenting in patients with symptomatic ≥ 50% carotid stenosis.

Three cohorts of symptomatic ≥ 50% carotid stenosis patients were merged. To make the control group relevant, we excluded patients not presenting with stroke on the day of symptom onset. The risk of preoperative cerebrovascular events up to 30 days was compared between the IVT-treated and non-IVT-treated.

In total, 316 patients were included, 64 (20%) treated with IVT. Those treated with IVT had similar risk of recurrent ipsilateral ischemic stroke or retinal artery occlusion (12% at day 7, 12% at day 30) as those not treated (9% at day 7, 15% at day 30; adjusted HR 0.9, 95% CI 0.4–2.2). There was a tendency (p = 0.09) towards time-dependency in the data where the recurrence risk was higher in IVT-treated at day 0 (6% in IVT-treated, 1% in non-IVT-treated, OR 5.5, 95% CI 1.2–25.4, p = 0.03). This was not significant when adjusting for co-factors (adjusted OR 4.4, 95% CI 0.9–21.8, p = 0.07) and was offset by a later risk decrease, with no remaining risk difference between IVT-treated and non-IVT-treated at day 7.

Intravenous thrombolysis treatment does not seem to affect the risk of recurrent ipsilateral ischemic stroke in patients with symptomatic ≥50% carotid stenosis: The risk is high in both IVT-treated and non-IVT-treated. However, there might be a risk increase on the day of IVT treatment that is offset by a risk decrease during the first week.

Concussion affects 1.2% of the population annually; rural regions and children have higher rates of concussion.

Using administrative health care linked databases, all residents of Ontario with a physician diagnosed concussion were identified using ICD-9 code 850 or ICD-10 code S06. Cases were tracked for 2 years for concussion-related health care utilization with relevant specialist physicians (i.e., neurology, otolaryngology, physiatry, psychiatry, ophthalmology). Billing codes, specialist codes, and time from index to visit were analyzed. Factors associated with increased specialist visits were also examined.

In total, 1,022,588 cases were identified between 2008 and 2014 with 2 years of post-concussion health care utilization available. Follow-up by physician within 3 days of injury occurred in only 14% of cases. Mean time between ED diagnosis and follow-up by a physician was 83.9 days, whereas for rural regions it was >100 days. About half of adults (51.9%) and children (50.3%) had at least 1 specialist visit following concussion. Mean time between injury and first specialist visit was 203.8 (SD 192.9) days for adults, 213.5 (SD 201.0) days for rural adults, and 276.0 (SD 202.6) days for children. There were 67,420 neurology visits, 70,404 psychiatry visits, 13,571 neurosurgery visits, 19,780 physiatry visits, 101,788 ENT visits, and 103,417 ophthalmology visits in the 2 years tracking period. Factors associated with more specialist use included age > 18 years, urban residence, and pre-injury psychiatric history.

There are discrepancies in post-concussion health care utilization based on age group and rural/urban residence. Addressing these risk factors could improve concussion care access.

E-learning has become commonplace in medical education. Incorporation of multimedia, clinical cases, and interactive elements has increased its attractiveness over textbooks. Although there has been an expansion of e-learning in medicine, the feasibility of e-learning in pediatric neurology is unclear. This study evaluates knowledge acquisition and satisfaction using pediatric neurology e-learning compared to conventional learning.

Residents of Canadian pediatrics, neurology, and pediatric neurology programs and medical students from Queens University, Western University, and the University of Ottawa were invited to participate. Learners were randomly assigned two review papers and two ebrain modules in a four-topic crossover design. Participants completed pre-tests, experience surveys, and post-tests. We calculated the median change in score from pre-test to post-test and constructed a mixed-effects model to determine the effect of variables on post-test scores.

In total, 119 individuals participated (53 medical students; 66 residents). Ebrain had a larger positive change than review papers in post-test score from pre-test score for the pediatric stroke learning topic but a smaller positive change for Duchenne muscular dystrophy, childhood absence epilepsy, and acute disseminated encephalomyelitis. Learning topics showed statistical relationship to post-test scores (p = 0.04). Depending on topic, 57–92% (N = 59–66) of respondents favored e-learning over review article learning.

Ebrain users scored higher on post-tests than review paper users. However, the effect is small and it is unclear if it is educationally meaningful. Although the difference in scores may not be substantially different, most learners preferred e-learning. Future projects should focus on improving the quality and efficacy of e-learning modules.

Spinal muscular atrophy (SMA) is a leading genetic cause of infant death and represents a significant burden of care. An improved understanding of the epidemiology of SMA in Canada may help inform strategies to improve the standard of care for individuals living with SMA.

We employed a multisource approach to estimate the minimal incidence and prevalence of 5q SMA and to gain greater insight into recent clinical practices and treatment trends for the Canadian SMA population. Data sources included the Canadian Paediatric Surveillance Program (CPSP), Canadian Neuromuscular Disease Registry (CNDR), and molecular genetics laboratories in Canada.

The estimated annual minimum incidence of 5q SMA was 4.38, 3.44, and 7.99 cases per 100,000 live births in 2020 and 2021, based on CPSP, CNDR, and molecular genetics laboratories data, respectively, representing approximately 1 in 21,472 births (range 12,516–29,070) in Canada. SMA prevalence was estimated to be 0.85 per 100,000 persons aged 0–79 years. Delay in diagnosis exists across all SMA subtypes. Most common presenting symptoms were delayed milestones, hypotonia, and muscle weakness. Nusinersen was the most common disease-modifying treatment received. Most patients utilized multidisciplinary clinics for management of SMA.

This study provides data on the annual minimum incidence of pediatric 5q SMA in Canada. Recent therapeutic advances and newborn screening have the potential to drastically alter the natural history of SMA. Findings underline the importance of ongoing surveillance of the epidemiology and long-term health outcomes of SMA in the Canadian population.