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There is limited data on the utility, yield, and cost efficiency of genetic testing in adults with epilepsy. We aimed to describe the yield and utility of genetic panels in our adult epilepsy clinic.
We performed a retrospective, cross-sectional study of all patients followed by an epileptologist at a Canadian tertiary care centre’s epilepsy clinic between January 2016 and August 2021 for whom a genetic panel was ordered. A panel was generally ordered when the etiology was unknown or in the presence of a malformation of cortical development. We determined the yield of panel positivity and of confirmed genetic diagnoses. We also estimated the proportion of these diagnoses that were clinically actionable.
In total, 164 panels were ordered in 164 patients. Most had refractory epilepsy (80%), and few had comorbid intellectual disability (10%) or a positive family history of epilepsy (11%). The yield of panel positivity was 11%. Panel results were uncertain 49% of the time and negative 40% of the time. Genetic diagnoses were confirmed in 7 (4.3%) patients. These genetic conditions involved the following genes: SCARB2, DEPDC5, PCDH19, LGI1, SCN1A, MT-TL1, and CHRNA7. Of the seven genetic diagnoses, 5 (71%) were evaluated to be clinically actionable.
We report a lower diagnostic yield for genetic panels in adults with epilepsy than what has so far been reported. Although the field of the genetics of epilepsy is a fast-moving one and more data is required, our findings suggest that guidelines for genetic testing in adults are warranted.
The insular cortex is an extensively connected brain region that has recently gained considerable interest due to its elusive role in several pathological conditions and its involvement in a variety of functions. Structural connectivity studies have identified connections to the frontal, temporal, and parietal cortices, with both a rostro-caudal and a dorso-ventral organizational pattern. The insula is also widely connected to subcortical structures. The use of diffusion-weighted imaging in insular epilepsy has not yet reached its full potential; however, it may still provide some insights into its pathophysiology, assess long-term consequences, and help prevent operative complications. This chapter explores the insula’s structural connectivity and promising applications in the field of insular epilepsy.
Caring for women with epilepsy (WWE) during pregnancy poses unique challenges. We conducted an audit of the care our epilepsy clinic provided to pregnant WWE.
We performed a retrospective study on all pregnancies followed by an epileptologist at a Canadian tertiary care centre’s epilepsy clinic between January 2003 and March 2021. Among 81 pregnancies in 53 patients, 72 pregnancies in 50 patients were analyzed to determine patient-related, follow-up-related, antiseizure-medication-related, and child-related pregnancy characteristics. Univariate analyses were performed to explore if these characteristics were associated with disabling seizure occurrence during pregnancy.
Most pregnancies were intended (72%) and occurred in women who used folic acid pre-pregnancy (76%) and who followed recommended blood tests for antiseizure medication (ASM) levels (71%). In 49% of pregnancies, ASM dosage was modified; 53% of these modifications were made in response to ASM blood levels. Most often used ASMs were lamotrigine (43%), followed by carbamazepine (32%) and levetiracetam (13%). One child was born with a thyroglossal duct cyst; our congenital malformation rate was thus 2%. Disabling seizures occurred in 24% of pregnancies. Exploratory analyses suggested that disabling seizure occurrence during pregnancy was associated with younger patient age (p = 0.018), higher number of ASMs used during pregnancy (p = 0.048), lamotrigine usage in polytherapy (p = 0.008), and disabling seizure occurrence pre-pregnancy (p = 0.027).
This Canadian audit provides an in-depth description of pregnancies benefiting from specialized epilepsy care. Our results suggest an association between disabling seizure occurrence during pregnancy and lamotrigine usage in polytherapy that warrants further evaluation.
Intervention time (IT) in response to seizures and adverse events (AEs) have emerged as key elements in epilepsy monitoring unit (EMU) management. We performed an audit of our EMU, focusing on IT and AEs.
We performed a retrospective study on all clinical seizures of admissions over a 1-year period at our Canadian academic tertiary care center’s EMU. This EMU was divided in two subunits: a daytime three-bed epilepsy department subunit (EDU) supervised by EEG technicians and a three-bed neurology ward subunit (NWU) equipped with video-EEG where patients were transferred to for nights and weekends, under nursing supervision. Among 124 admissions, 58 were analyzed. A total of 1293 seizures were reviewed to determine intervention occurrence, IT, and AE occurrence. Seizures occurring when the staff was present at bedside at seizure onset were analyzed separately.
Median IT was 21.0 (11.0–40.8) s. The EDU, bilateral tonic–clonic seizures (BTCS), and the presence of a warning signal were associated with increased odds of an intervention taking place. The NWU, BTCS, and seizure rank (seizures were chronologically ordered by the patient for each subunit) were associated with longer ITs. Bedside staff presence rate was higher in the EDU than in the NWU (p < 0.001). AEs occurred in 19% of admissions, with no difference between subunits. AEs were more frequent in BTCS than in other seizure types (p = 0.001).
This study suggests that close monitoring by trained staff members dedicated to EMU patients is key to optimize safety. AE rate was high, warranting corrective measures.
We undertook a quality improvement project to address challenges with pulmonary artery catheter (PAC) line maintenance in a setting of low-baseline central-line infection rates. We observed a subsequent reduction in Staphylococcal PAC line infections and a trend toward a reduction in overall PAC infection rates over 1 year.
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