To describe the experience with Anterior Nucleus of the Thalamus-Deep Brain Stimulation (ANT-DBS) for the treatment of epilepsy at a Canadian Center.

All patients who underwent ANT-DBS implantation between 2013 (first patient implanted at our center) and 2020 were included. These patients had therapy-resistant epilepsy (TRE), were not candidates for resective surgery, and failed vagus nerve stimulation (VNS) treatment. Baseline of monthly seizure frequency was calculated within 3 months prior to VNS placement. Monthly seizure frequency was assessed at different points along the timeline: 3 months before ANT-DBS implantation as well as 3, 6, 12, 24, 36, 48, 60, and 72 months after ANT-DBS device placement. At each time point, seizure frequency was compared to baseline.

Six patients were implanted with ANT-DBS. Three (50%) patients had multifocal epilepsy, one (16.6%) had focal epilepsy, and two (33.4%) had combined generalized and focal epilepsy. Two patients with multifocal epilepsy experienced a seizure reduction >50% in the long-term follow-up. Three (50%) patients did not showed improvement: two with combined generalized and focal epilepsy and one with focal epilepsy. There were not surgical or device-related side effects. Two (33.3%) patients presented mild and transient headaches as a stimulation-related side effect.

ANT-DBS is an effective and safe treatment for focal TRE. Our experience suggests that patients with multifocal epilepsy due to regional lesion may benefit from ANT-DBS the most. Further investigations are required to determine optimal parameters of stimulation.

Acute ischemic stroke may affect women and men differently. We aimed to evaluate sex differences in outcomes of endovascular treatment (EVT) for ischemic stroke due to large vessel occlusion in a population-based study in Alberta, Canada.

Over a 3-year period (April 2015–March 2018), 576 patients fit the inclusion criteria of our study and constituted the EVT group of our analysis. The medical treatment group of the ESCAPE trial had 150 patients. Thus, our total sample size was 726. We captured outcomes in clinical routine using administrative data and a linked database methodology. The primary outcome of our study was home-time. Home-time refers to the number of days that the patient was back at their premorbid living situation without an increase in the level of care within 90 days of the index stroke event. In adjusted analysis, EVT was associated with an increase of 90-day home-time by an average of 6.08 (95% CI −2.74–14.89, p-value 0.177) days in women compared to an average of 11.20 (95% CI 1.94–20.46, p-value 0.018) days in men. Further analysis revealed that the association between EVT and 90-day home-time in women was confounded by age and onset-to-treatment time.

We found a nonsignificant nominal reduction of 90-day home-time gain for women compared to men in this province-wide population-based study of EVT for large vessel occlusion, which was only partially explained by confounding.

Recurrent events account for approximately one-third of all strokes and are associated with greater disability and mortality than first-time strokes. Blood pressure (BP) is the most important modifiable risk factor. Objectives were to determine the proportion of post-stroke patients enrolled in cardiac rehabilitation (CR) meeting systolic and diastolic BP (SBP/DBP) targets and to determine correlates of meeting these targets.

A retrospective study of 1,804 consecutively enrolled post-stroke patients in a CR program was conducted. Baseline data (database records 2006–2017) included demographics, anthropometrics, clinical/medication history, and resting BP. Multivariate analyses determined predictors of achieving BP targets.

Mean age was 64.1 ± 12.7 years, median days from stroke 210 (IQR 392), with most patients being male (70.6%; n = 1273), overweight (66.8%; n = 1196), and 64.2% diagnosed with hypertension (n = 1159), and 11.8% (n = 213) with sleep apnea. A mean of 1.69 ± 1.2 antihypertensives were prescribed, with 26% (n = 469) of patients prescribed 3–4 antihypertensives. SBP target was met by 71% (n = 1281) of patients, 83.3% (n = 1502) met DBP target, and 64.3% (n = 1160) met both targets. Correlates of meeting SBP target were not having diabetes, younger age, fewer prescribed antihypertensives, and more recent program entry. Correlates of meeting DBP target were not having diabetes, older age, fewer prescribed antihypertensives, and more recent stroke.

Up to one-third of patients were not meeting BP targets. Patients with diabetes, and those prescribed multiple antihypertensives are at greater risk for poorly controlled SBP and DBP. Reasons for poor BP control such as untreated sleep apnea and medication non-adherence need to be investigated.

Amyotrophic lateral sclerosis (ALS) presents many transitions for persons/people with ALS (PwALS) and their caregivers. Transitions are passages from one life phase, condition, or status to another. We used qualitative methods to understand how PwALS and caregivers experience transitions throughout their ALS journey.

PwALS and their caregivers were recruited from a multidisciplinary ALS clinic in Edmonton, Canada. We recruited patients at the stage of ALS that home mechanical ventilation, a feeding tube, and/or assistive communication technology had been offered. Semi-structured interviews were audio-recorded, transcribed, and analyzed using qualitative thematic analysis.

We interviewed 14 PwALS and 15 caregivers and identified 5 recurring themes. The importance of community was identified by many PwALS and caregivers who expressed feelings of loneliness and isolation. Most caregivers were spouses and couples navigated a change in their relationship roles as one spouse transitioned to becoming a caregiver while the other transitioned to dependency. The caregiver spouses reported a sense of “total responsibility” that encompassed continual vigilance for the PwALS’s well-being, managing their household and finances. PwALS and caregivers reported transitioning to reliance on life-sustaining medical devices; early adoption and information on these devices increased their quality of life. Participants also wanted more and earlier information on advanced care planning. PwALS and caregivers identified adapting to new forms of communication as a necessity.

ALS presents many transitions for PwALS and caregivers. Understanding these transitions is important for ALS healthcare professionals who seek to implement best care practices.

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.

To describe the pattern of emergency department (ED) consultations in children with cerebral palsy (CP) compared to controls and factors predictive of ED consultations.

This retrospective cohort study linked data from the Registre de la paralysie cérébrale du Québec (REPACQ) and provincial administrative health databases. The CP cohort was comprised of children enrolled in REPACQ born between 1999 and 2002. REPACQ covers 6 of 17 Quebec health administrative regions. Region-, age-, and gender-matched controls were identified from administrative health databases in a 20:1 ratio. The primary outcome was high use of ED services (≥4 ED visits during the study period). Relative risk (RR) and 95% confidence interval (CI) were calculated.

In total, 301 children with CP were linked to administrative data and 6040 peer controls were selected. Ninety-two percent (92%) of the CP cohort had at least one ED visit in the study period, compared to 74% among controls (RR 1.24, 95% CI 1.19–1.28). Children with CP were more likely than their peers to have high ED use (RR 1.40; 95% CI 1.30–1.52). Factors predictive of high ED use were comorbid epilepsy (RR 1.23; 95% CI 1.04–1.46) and severity of motor impairment (RR 1.14; 95% CI 0.95–1.37).

Children with CP are more likely to present to the ED than their peers, resulting in increased use of ED services. Coordinated care with improved access to same-day evaluations could decrease ED use. Health system factors and barriers should be investigated to ensure optimal and appropriate use of ED services.

Functional movement disorders (FMDs) pose significant diagnostic and management challenges. We aimed to study the socioeconomic and cultural factors, underlying psychopathology and the phenomenology of FMDs in children.

The study is a retrospective chart review of 39 children (16 girls and 23 boys) who attended our neurology OPD and the movement disorders clinic at the National Institute of Mental Health and Neurosciences (NIMHANS) between January 2011 and May 2020. The diagnosis of FMD was based on Fahn and Williams criteria and the patients were either diagnosed as “documented” or “clinically established”. All the relevant demographic data including the ethnicity, socioeconomic and cultural background, examination findings, electrophysiological, and other investigations were retrieved from the medical records.

The mean age at onset was 12.69 ± 3.13 years. Majority of the children were from urban regions (56.41%) and belonging to low socioeconomic status (46.15%). Thirty (76.92%) were found to have a precipitating factor. Myoclonus was the most common phenomenology observed in these patients (30.76%), followed by tremor (20.51%), dystonia (17.94%), and gait abnormality (7.69%). Chorea (5.12%) and tics (2.56%) were uncommon. Tremor (37.5%) and dystonia (18.75%) were more common in girls, whereas myoclonus (39.13%) was more common in boys.

The symptoms of FMD have great impact on the mental health, social, and academic functioning of children. It is important to identify the precipitating factors and associated psychiatric comorbidities in these children as prompt alleviation of these factors by engaging parents and the child psychiatrist will yield better outcomes.

Microelectrode recordings (MERs) are used during deep brain stimulation surgery (DBS) to optimize patient outcomes and provide a unique method of collecting data regarding neurological conditions. However, MERs can be affected by anesthetics such as dexmedetomidine. Little is known about the effects of dexmedetomidine (DEX) on the globus pallidus interna (GPi), a common target for DBS. The primary aim of this study is to investigate the hypothesis that DEX is associated with alterations in GPi MERs.

We conducted a retrospective analysis comparing MERs from patients with Parkinson’s disease (PD) and dystonia who underwent insertion of DBS of the GPi under DEX sedation with those who went through the same procedure without DEX (No DEX).

Firing rates for GPi neurons in the DEX group were lower (57.44 ± 2.04; mean ± SEM, n = 163 cells) than the No DEX group (69.53 ± 2.06, n = 112 cells, P < 0.0001). Overall, DEX was associated with a greater proportion of GPi cells classified as firing in bursty pattern compared to our No DEX group. (29.41%, n = 153 vs 14.81%, n = 108, P = 0.008). This effect was present for both PD and dystonia patients who underwent the procedure. High doses of DEX were associated with lower firing rates than low doses.

Our results suggest that DEX is associated with a decrease in GPi firing rates and are associated with an increase in burstiness. Furthermore, these effects are similar between dystonia and PD patients. Lastly, the effects of DEX may differ between high doses and low doses.

Patients with sellar masses undergoing transsphenoidal surgery (TSS) frequently develop endocrine dysfunction; therefore, in-hospital endocrinology consultation (IHEC) is recommended. However, we wondered whether routine endocrinology assessment of all TSS patients is always necessary.

We developed an IHEC Physician’s Guide to identify patients who would require peri-operative IHEC. An analysis of all patients undergoing TSS for a sellar mass over a 4-year period was conducted to assess the predictive value of the IHEC Physician’s Guide in identifying patients who required IHEC.

A total of 116 patients underwent TSS; 24 required IHEC. As expected, the risk of endocrine complications requiring peri-operative endocrine management was significantly higher in the IHEC group versus no-IHEC group (96% vs. 1%; p < 0.001). The negative predictive value of the IHEC Physician’s Guide in identifying patients who did not require IHEC was 0.99 (95% CI 0.9409–0.9997); Fisher’s exact test, p < 0.001), meaning that the IHEC Physician’s Guide successfully identified all but one patient who truly required IHEC.

Results from our study show that most patients do not need IHEC after TSS and that those patients requiring IHEC can be reliably predicted at surgery by using a simple IHEC Physician’s Guide.

Pituitary adenomas (PAs) are common and often require complex multidisciplinary care with multiple specialists. This may result in a healthcare system that is challenging for patients to navigate. Audits of care at our institution revealed opportunities for improvement to better align care with patients’ needs.

A quality improvement initiative that incorporated a patient advisory committee of patients who had received treatment for PA at our center and their family members were used to help identify opportunities for improvement. The patient-identified gaps in care included the need to coordinate and minimize appointments and the desire for better communication and education. Based on this information, changes were implemented to the pituitary program, including increasing access to the Multidisciplinary Clinic and developing a standardized and centralized triage process.

A pre- and post-intervention analysis consisting of retrospective chart reviews revealed that these changes had an impact on wait times for first assessment, and a significant shift in the location of this first visit – with a larger proportion of patients being seen in the Multidisciplinary Clinic after an intervention.

We demonstrate that patient involvement, beyond individual patient–physician interactions, can lead to meaningful and observable changes, and can improve the quality of care for PA.