Evaluating the Current State of Epilepsy Care in the Province of Ontario.

There are numerous challenges pertaining to epilepsy care across Ontario, including Epilepsy Monitoring Unit (EMU) bed pressures, surgical access and community supports. We sampled the current clinical, community and operational state of Ontario epilepsy centres and community epilepsy agencies post COVID-19 pandemic. A 44-item survey was distributed to all 11 district and regional adult and paediatric Ontario epilepsy centres. Qualitative responses were collected from community epilepsy agencies. Results revealed ongoing gaps in epilepsy care across Ontario, with EMU bed pressures and labour shortages being limiting factors. A clinical network advising the Ontario Ministry of Health will improve access to epilepsy care.

Does the ketogenic ratio matter when using ketogenic diet therapy in pediatric epilepsy?

The ketogenic diet (KD) is a widely used therapeutic option for individuals with medically refractory epilepsy. As the diet's name implies, ketosis is a historically important component of the diet, but it is not well understood how important ketosis is for seizure control. The ketogenic ratio is defined as the ratio of fat to carbohydrate plus protein by weight in the diet (grams). Traditionally, the classic KD contains a 4:1 ratio, and a very high proportion of fat in the diet. The classic KD, with its high proportion of fat and limited carbohydrate intake can be restrictive for patients with epilepsy. Recently, there is experience with use of lower ketogenic ratios and less-restrictive diets such as the modified Atkins diet and the low glycemic index treatment. In this narrative review, we examine the role of ketosis and ketogenic ratios in determining the efficacy of the KD in children with epilepsy.

SUDEP counseling: Where do we stand?

Sudden unexpected death in epilepsy (SUDEP) is the leading cause of epilepsy-related death in children and adults living with epilepsy. Several recent clinical practice guidelines have recommended that all individuals living with epilepsy and their caregivers be informed about SUDEP as a part of routine epilepsy counseling. Furthermore, several studies over the last two decades have explored the state of SUDEP counseling. Patients with epilepsy and their families want to be informed about the risk of SUDEP at or near the time of diagnosis, and preferably in person. Despite guideline recommendations, many pediatric and adult neurologists do not routinely inform individuals with epilepsy and their families about SUDEP. Some neurologists discuss SUDEP with only a subset of patients with epilepsy, such as those with risk factors like frequent generalized or focal to bilateral tonic-clonic seizures, nocturnal seizures, noncompliance, or medically refractory epilepsy. Proponents of routine SUDEP counseling argue that patients with epilepsy and their families have a "right to know" and that counseling may positively impact epilepsy self-management (i.e., behavioral modification and risk reduction). Some neurologists still believe that SUDEP counseling may cause unnecessary stress and anxiety for patients and their families (although this is erroneous) and that they also have a "right not to know." This narrative review explores the current gaps in SUDEP counseling, patients' and caregivers' perspectives of SUDEP counseling, and SUDEP prevention.

Trajectories of parent well-being in children with drug-resistant epilepsy.

OBJECTIVE: This longitudinal cohort study aimed to identify trajectories of parent well-being over the first 2 years after their child's evaluation for candidacy for epilepsy surgery, and to identify the baseline clinical and demographic characteristics associated with these trajectories. Parent well-being was based on parent depressive and anxiety symptoms and family resources (i.e., family mastery and social support). METHODS: Parents of 259 children with drug-resistant epilepsy (105 of whom eventually had surgery) were recruited from eight epilepsy centers across Canada at the time of their evaluation for epilepsy surgery candidacy. Participants were assessed at baseline and 6-month, 1-year, and 2-year follow-up. The trajectories of parents' depressive symptoms, anxiety symptoms, and family resources were jointly estimated using multigroup latent class growth models. RESULTS: The analyses identified three trajectories: an optimal-stable group with no/minimal depressive or anxiety symptoms, and high family resources that remained stable over time; a mild-decreasing-plateau group with mild depressive and anxiety symptoms that decreased over time then plateaued, and intermediate family resources that remained stable; and a moderate-decreasing group with moderate depressive and anxiety symptoms that decreased slightly, and low family resources that remained stable over time. Parents of children with higher health-related quality of life, fathers, and parents who had higher household income were more likely to have better trajectories of well-being. Treatment type was not associated with the trajectory groups, but parents whose children were seizure-free at the time of the last follow-up were more likely to have better trajectories (optimal-stable or mild-decreasing-plateau trajectories). SIGNIFICANCE: This study documented distinct trajectories of parent well-being, from the time of the child's evaluation for epilepsy surgery. Parents who present with anxiety and depressive symptoms and low family resources do not do well over time. They should be identified and offered supportive services early in their child's epilepsy treatment history.

A longitudinal cohort study of mediators of health-related quality of life after pediatric epilepsy surgery or medical treatment.

OBJECTIVES: The purpose of this longitudinal cohort study was to examine the variables that influence health-related quality of life (HRQOL) after epilepsy surgery in children. We examined whether treatment type (surgical vs medical therapy) and seizure control are related to other variables that have been shown to influence HRQOL, namely depressive symptoms in children with epilepsy or their parents, and the availability of family resources. METHODS: In total, 265 children with drug-resistant epilepsy were recruited from eight epilepsy centers across Canada at the time of their evaluation for candidacy for epilepsy surgery and were assessed at baseline, 6-month, 1-year, and 2-year follow-up. Parents completed the Quality of Life in Childhood Epilepsy Questionnaire (QOLCE-55) and measures of family resources and depression; children completed depression inventories. Causal mediation analyses using natural effect models were used to evaluate the extent to which the relationship between treatment and HRQOL was explained by seizure control, child and parent depressive symptoms, and family resources. RESULTS: Overall, 111 children underwent surgery and 154 were treated with medical therapy only. The HRQOL scores of surgical patients were 3.4 points higher (95% confidence interval [CI]: -0.2, 7.0) relative to medical patients at the 2-year follow-up after adjusting for baseline covariates, with 66% of the effect of surgery attributed to seizure control. Child or parent depressive symptoms and family resources had negligible mediation effects between treatment and HRQOL. The effect of seizure control on HRQOL was not mediated by child or parent depressive symptoms, or by family resources. SIGNIFICANCE: The findings demonstrate that seizure control is on the causal pathway between epilepsy surgery and improved HRQOL in children with drug-resistant epilepsy. However, child and parent depressive symptoms and family resources were not significant mediators. The results highlight the importance of achieving seizure control to improve HRQOL.

Agreement in reporting restrictions in life between children with epilepsy and their parents.

BACKGROUND: This study aimed to determine the parent-child agreement of the Hague Restrictions in Childhood Epilepsy Scale (HARCES) and identify the clinical factors associated with parent-child disagreement and the restrictions. METHODS: Data come from a clinical sample of 90 children ages 9-17 (mean age = 12.9, SD = 6.9, 54% male) attending a pediatric neurology clinic. Parents completed the HARCES, and children completed a modified child-friendly scale (HARCES-M). The parent-child agreement was assessed using intraclass correlation coefficients (ICC) and paired t-tests to compare parent and child responses. Logistic regression examined clinical factors associated with disagreement > 0.5 standard deviation. Associations between clinical factors and restriction scores were examined using linear regression. RESULTS: Parent-child agreement on the HARCES was poor (ICC = 0.36, 95% CI: 0.03, 0.58), and parents reported fewer restrictions in daily activities (t(89) = 2.45, p = .016) and to attend parties (t(89) = 2.12, p = .038); however, the overall restrictions scores were not different (t(89) = 1.55, p = .125). The presence of convulsive seizures (OR = 0.20, 95% CI: 0.05, 0.75) and longer duration of epilepsy (OR = 1.19, 95% CI: 1.01, 1.41) were associated with parent-child disagreement. No clinical factors were significantly related to either the HARCES or HARCES-M scores. CONCLUSIONS: The disagreement in perceptions of restrictions highlights the need to use child-reported measures along with parental reports to comprehensively understand restrictions on children with epilepsy fully. More research is needed to understand what factors explain parent- and child-rated restrictions due to epilepsy.

Life after SUDEP: Experiences of traumatic loss and growth.

PURPOSE: To understand the experiences of bereaved relatives of individuals who passed due to sudden unexpected death in epilepsy (SUDEP) and to explore the impacts of death in their lives. METHODS: The principles of fundamental qualitative description informed all design decisions. Stratified purposeful sampling included 21 bereaved relatives (parent, sibling, or spouse/partner), aged at least 18 years, of persons who passed away because of SUDEP. In-depth one-to-one interviews were conducted. Directed content analysis was used to code, categorize, and synthesize the interview data. RESULTS: There was some criticism of emergency response and medical professionals involved in providing insensitive or poor care immediately after SUDEP occurred. Personal hardships described by participants following SUDEP included loss of personal identity, feeling depressed, experiencing guilt, having panic attacks, requiring therapy, as well as having difficulty with anniversaries, dates, and cleaning up a child's room. Bereaved spouses and parents in particular spoke of experiencing challenges in maintaining other relationships following the death. Some participants spoke of experiencing increased financial hardships. Ways of coping included keeping oneself busy, honoring the memory of the loved one, relying on friends and families, and engaging in advocacy/community work, including raising awareness on epilepsy and SUDEP. CONCLUSIONS: Sudden unexpected death in epilepsy affected several aspects of the day-to-day lives of bereaved relatives. Though methods of coping were similar to the usual strategies adopted by all bereaved relatives, advocacy work related to raising awareness about epilepsy and SUDEP was unique to this group. Guidelines on SUDEP should ideally include recommendations for trauma-informed support and assessment for depression and anxiety to the bereaved relatives as well.

Sudden unexpected death in epilepsy in children.

Sudden unexpected death in epilepsy (SUDEP) is the leading cause of epilepsy-related mortality in children and adults living with epilepsy. The incidence of SUDEP is comparable in both children and adults; it is approximately 1.2 per 1000 person years. The pathophysiology of SUDEP is not well understood but may involve mechanisms such as cerebral shutdown, autonomic dysfunction, altered brainstem function, and cardiorespiratory demise. Risk factors for SUDEP include the presence of generalized tonic-clonic seizures, nocturnal seizures, possible genetic predisposition, and non-adherence to antiseizure medications. Pediatric-specific risk factors are not fully elucidated. Despite recommendations from consensus guidelines, many clinicians still do not follow the practice of counseling their patients about SUDEP. SUDEP prevention has been an area of important research focus and includes several strategies, such as obtaining seizure control, optimizing treatment regimens, nocturnal supervision, and seizure detection devices. This review discusses what is currently known about SUDEP risk factors and reviews current and future preventive strategies for SUDEP.

Longitudinal changes in emotional functioning following pediatric resective epilepsy surgery: 2-Year follow-up.

OBJECTIVE: To examine longitudinal changes and predictors of depression and anxiety 2 years following resective epilepsy surgery, compared to no surgery, in children with drug-resistant epilepsy (DRE). METHOD: This multicenter cohort study involved 128 children and adolescents with DRE (48 surgical, 80 nonsurgical; 8-18 years) who completed self-report measures of depression and anxiety at baseline and follow-up (6-month, 1-year, 2-year). Child demographic (age, sex, IQ) and seizure (age at onset, duration, frequency, site and side) variables were collected. RESULTS: Linear mixed-effects models controlling for age at enrolment found a time by treatment by seizure outcome interaction for depression. A negative linear trend across time (reduction in symptoms) was found for surgical patients, irrespective of seizure outcome. In contrast, the linear trend differed depending on seizure outcome in nonsurgical patients; a negative trend was found for those with continued seizures, whereas a positive trend (increase in symptoms) was found for those who achieved seizure freedom. Only a main effect of time was found for anxiety indicating a reduction in symptoms across patient groups. Multivariate regressions failed to find baseline predictors of depression or anxiety at 2-year follow-up in surgical patients. Older age, not baseline anxiety or depression, predicted greater symptoms of anxiety and depression at 2-year follow-up in nonsurgical patients. CONCLUSION: Children with DRE reported improvement in anxiety and depression, irrespective of whether they achieve seizure control, across the 2 years following surgery. In contrast, children with DRE who did not undergo surgery, but achieved seizure freedom, reported worsening of depressive symptoms, which may indicate difficulty adjusting to life without seizures and highlight the potential need for ongoing medical and psychosocial follow-up and support.

Can We Prevent Sudden Unexpected Death in Epilepsy (SUDEP)?

Sudden unexpected death in epilepsy (SUDEP) remains an important cause of epilepsy-related mortality, especially in patients with refractory epilepsy. The exact cause is not known, but postictal cardiac, respiratory, and brainstem dysfunctions are implicated. SUDEP prevention remains a big challenge. Except for low-quality evidence of preventive effect of nocturnal supervision for SUDEP, no other evidence-based preventive modality is available. Other potential preventive strategies for SUDEP include reducing the occurrence of generalized tonic-clonic seizures using seizure detection devices, detecting cardiorespiratory distress through respiratory and heart rate monitoring devices, preventing airway obstruction (safety pillows), and reducing central hypoventilation using selective serotonin reuptake inhibitors and adenosine and opiate antagonists. However, none of the above-mentioned modalities has been proven to prevent SUDEP. The present review intends to provide insight into the available SUDEP prevention modalities.

Seizure freedom improves health-related quality of life after epilepsy surgery in children.

AIM: To determine whether epilepsy surgery improved health-related quality of life (HRQoL) and whether seizure freedom after surgery mediated the improvement in HRQoL. METHOD: This multicenter cohort study compared HRQoL after epilepsy surgery to pharmacological management in children with drug-resistant epilepsy (DRE). HRQoL was measured using the Quality of Life in Childhood Epilepsy (QOLCE) questionnaire at baseline and 1-year follow-up. The mediator between treatment type and HRQoL was seizure freedom. RESULTS: Two hundred and thirty-seven patients were recruited (surgery group: n=147 [92 males, 45 females]; pharmacological group: n=90 [53 males, 37 females]). Mean age at seizure onset was 6 years (SD 4y 4mo) in the surgical group and 6 years 1 month (SD 4y) in the pharmacological group. The odds ratio of seizure freedom was higher for the surgery versus pharmacological group (ß=4.24 [95% confidence interval {CI}: 2.26-7.93], p<0.001). Surgery had no direct effect on total QOLCE score at 1-year (ß=0.24 [95% CI -2.04 to 2.51], p=0.839) compared to pharmacological management, but had an indirect effect on total QOLCE that was mediated by seizure freedom (ß=0.92 [95% CI 0.19-1.65], p=0.013), adjusting for baseline total QOLCE score. Surgery had a direct effect on improving social function (p=0.043), and an indirect effect on improving physical function (p=0.016), cognition (p=0.042), social function (p=0.012) and behavior (p=0.032), mediated by seizure freedom. INTERPRETATION: Greater seizure freedom achieved through epilepsy surgery mediated the improvement in HRQoL compared to pharmacological management in children with DRE. WHAT THIS PAPER ADDS: Seizure freedom is higher after pediatric epilepsy surgery compared to pharmacologically managed epilepsy. Surgery indirectly improves health-related quality of life (HRQoL) mediated by seizure freedom compared to pharmacological management. Surgery has a direct effect on improving social function relative to pharmacological management. Baseline HRQoL was an important predictor of HRQoL after treatment.

Interpreting the Tests of Focal Cortical Dysplasia for Epilepsy Surgery Referral.

OBJECTIVE: Focal cortical dysplasia (FCD) is a common cause of refractory, focal onset epilepsy in children. Interictal, scalp electroencephalograph (EEG) markers have been associated with these pathologies and epilepsy surgery may be an option for some patients. We aim to study how scalp EEG and magnetic resonance imaging (MRI) markers of FCD affect referral of these patients for surgical evaluation. METHODS: A single-center, retrospective review of children with focal onset epilepsy. Patients were included if they were between 1 month and 18 years of age, had focal onset seizures, prolonged scalp EEG monitoring, and an MRI conducted after 2 years of age. Statistics were carried out using the chi-squared and student's t-test, as well as a logistic regression model. RESULTS: Sixty-eight patients were included in the study. Thirty-seven of these patients were referred to a comprehensive pediatric epilepsy program (CPEP) for surgical evaluation, and of these 22% showed FCD EEG markers, 32% FCD MRI markers, and 10% had both. These markers were also present in patients not referred to a CPEP. The MRI markers were significantly associated with CPEP referral, whereas EEG markers were not. Neither marker type was associated with epilepsy surgery. CONCLUSION: This study found that children with focal onset epilepsy were more likely to be referred for surgical evaluation if they were medically refractory, or were diagnosed with FCD or tumor on MRI. Scalp EEG markers of FCD were not associated with CPEP referral. The online tool CASES may be a useful physician guide for identifying appropriate children for epilepsy surgery referral.

Interpréter les tests de détection de la dysplasie corticale focale en vue d'une évaluation préopératoire du traitement de l'épilepsie.Objectif: La dysplasie corticale focale (DCF) constitue une des causes communes des crises convulsives partielles réfractaires chez l'enfant. À la suite d'EEG effectués au niveau du cuir chevelu, des marqueurs de l'activité épileptique interictale ont été associés avec ce trouble pour lequel une intervention chirurgicale peut constituer, dans le cas de certains patients, une option. Nous voulons nous pencher sur la façon dont ces marqueurs et les marqueurs utilisés lors d'examens d'IRM pour la DCF peuvent affecter l'aiguillage de ces patients en vue d'une évaluation préopératoire. Méthodes: Dans un seul établissement hospitalier, nous avons effectué une analyse rétrospective de cas d'enfants chez qui sont apparues des crises convulsives partielles. Pour être inclus, les patients devaient être âgés de 1 mois à 18 ans, avoir été victimes de telles crises convulsives, avoir bénéficié de surveillance prolongée par EEG et avoir subi un examen d'IRM après l'âge de deux ans. Nous avons enfin effectué une analyse statistique à l'aide d'un modèle de régression logistique et des tests du X2 et de Student. Résultats: Au total, nous avons inclus soixante-huit patients dans cette étude. Trente-sept d'entre eux ont été redirigés vers un programme pédiatrique complet de traitement de l'épilepsie (comprehensive pediatric epilepsy program) en vue d'une évaluation préopératoire. Sur ces trente-sept patients, on a observé chez 22 % d'entre eux les marqueurs électroencéphalographiques associés à la DCF ; ce pourcentage atteignait 32 % dans le cas des marqueurs de la DCF utilisés en imagerie ; enfin, on a pu détecter ces deux types de marqueurs chez 10 % de ces trente-sept patients. Fait à souligner, ces marqueurs étaient aussi présents chez des patients n'ayant pas été orientés vers le type de programme cité ci-dessus. En outre, les marqueurs utilisés en imagerie se sont avérés étroitement associés au fait d'orienter des patients vers ce programme tandis que les marqueurs électroencéphalographiques ne l'étaient pas. Finalement, aucun de ces types de marqueurs n'a pu être associé à une intervention chirurgicale visant à traiter l'épilepsie. Conclusion: Cette étude a donc permis de constater que les enfants atteints de crises convulsives partielles étaient plus susceptibles d'être orientés en vue d'une évaluation préopératoire si leur trouble était de nature réfractaire ou s'ils avaient reçu un diagnostic de DCF ou de tumeur cancéreuse à la suite d'un examend'IRM. Les marqueurs électroencéphalographiques de la DCF n'ont pas été associés à un aiguillage vers un programme pédiatrique complet de traitement de l'épilepsie. Il se pourrait à cet égard que l'outil en ligne CASES soit un guide utile pour les médecins souhaitant identifier les enfants convenant à un aiguillage en vue d'un traitement chirurgical de l'épilepsie.

Update on Minimal Standards for Electroencephalography in Canada: A Review by the Canadian Society of Clinical Neurophysiologists.

Surface electroencephalogram (EEG) recording remains the gold standard for noninvasive assessment of electrical brain activity. It is the most efficient way to diagnose and classify epilepsy syndromes as well as define the localization of the epileptogenic zone. The EEG is useful for management decisions and for establishing prognosis in some types of epilepsy. Electroencephalography is an evolving field in which new methods are being introduced. The Canadian Society of Clinical Neurophysiologists convened an expert panel to develop new national minimal guidelines. A comprehensive evidence review was conducted. This document is organized into 10 sections, including indications, recommendations for trained personnel, EEG yield, paediatric and neonatal EEGs, laboratory minimal standards, requisitions, reports, storage, safety measures, and quality assurance.

SUDEP: What do adult patients want to know?

PURPOSE: The purpose of this descriptive qualitative study was to understand the range of adult patients' views on whether and how to discuss the issue of SUDEP with patients with epilepsy and to clarify the optimal timing and formulation of this information. METHOD: The principles of fundamental qualitative description informed all design decisions. Twenty-three patients aged 18-65years participated in the study. Nineteen participants completed a single one-on-one telephone interview, whereas four participants shared their experiences in a focus group. Directed content analysis was used to code, categorize, and synthesize the interview data. RESULTS: Of the 42 patients invited to participate, 23 participated in the study. There was consensus among all study participants that all individuals diagnosed with epilepsy should be informed about SUDEP. Many participants believed that the best time to be told about SUDEP was at diagnosis. The majority of participants suggested that the discussion about SUDEP should take place face to face, in a verbal discussion, followed by written information to take home. Several participants suggested that the information about SUDEP should not be shared separately but rather incorporated into the general information they received about epilepsy. Nearly all the participants felt that the information about SUDEP should come from the neurologist. CONCLUSION: Participants of this study wanted neurologists to inform patients about the risk of SUDEP, with the optimal timing and setting of SUDEP counseling determined on a case-by-case basis.

The 2022 International League Against Epilepsy Classification and Definition of Childhood Epilepsy Syndromes: An Update for Pediatricians.

The 2017 classification of the epilepsies of International League Against Epilepsy (ILAE) defined three diagnostic levels, including seizure type, epilepsy type and epilepsy syndrome. Epilepsy syndromes have been recognized as distinct electroclinical entities well before the first ILAE classification of Epilepsies and Epilepsy Syndromes in 1985. A formally accepted classification of epilepsy syndromes was not available, and hence, the 2017-2021 Nosology and Definitions Task Force of ILAE was formulated. The ILAE position papers were published in 2022, which classified epilepsy syndromes into (1) syndromes with onset in neonates and infants (up to 2 years of age), (2) syndromes with onset in childhood, (3) syndromes that may begin at a variable age and (4) idiopathic generalized epilepsies. This classification recognized the concept of etiology-specific syndrome. These papers have addressed the specific clinical and laboratory features of epilepsy syndromes and specify the rationale for any significant changes in terminology or definition. This paper will review some pertinent changes and essential points relevant to pediatricians.

Ketogenic Diet: Parental Experiences and Expectations.

BACKGROUND: The ketogenic diet may be difficult for some patients and their families to implement and can impact physical, emotional, and social well-being. METHODS: Through principles of fundamental qualitative description, we completed an exploratory study on parents' experiences and expectations on the use and efficacy of the ketogenic diet for children with medically refractory epilepsy. RESULTS: Seventeen parents (10 mothers and 7 fathers) of 12 children with epilepsy participated. At the time of the interview, parents had experienced an average of 25 months of ketogenic diet treatment for their child (range 2 months to 98 months). Half of the caregivers learned about the ketogenic diet from their neurologist, whereas the remainder had heard about it from another source (ie, the internet). Most caregivers' (n = 13) diet expectations were related to seizure control. However, child development (n = 5) and quality of life (n = 5) were also crucial to some. Physical impacts of the diet were most commonly gastrointestinal for children (n = 9). Social and emotional effects were noted in some older children with typical development. Most caregivers described negative impacts on finances (n = 15), relationships (n = 14), and emotional well-being (ie, stress) (n = 12). Caregivers benefited from the ketogenic diet team's regular communication, close follow-up, and family-centered care. CONCLUSIONS: Despite the impacts that the ketogenic diet may have on caregivers' emotional and social well-being, the positive impacts of the diet were felt to outweigh any perceived risks. Effects (both positive and negative) on quality of life and child development (eg, social, emotional, cognitive) are essential for caregivers and require additional investigation.

Genetic Testing in Pediatric Epilepsy: Tools, Tips, and Navigating the Traps.

With the advent of high-throughput sequencing and computational methods, genetic testing has become an integral part of contemporary clinical practice, particularly in epilepsy. The toolbox for genetic testing has evolved from conventional chromosomal microarray and epilepsy gene panels to state-of-the-art sequencing techniques in the modern genomic era. Beyond its potential for therapeutic benefits through precision medicine, optimizing the choice of antiseizure medications, or exploring nonpharmacological therapeutic modalities, genetic testing carries substantial diagnostic, prognostic, and personal implications. Developmental and epileptic encephalopathies, the coexistence of neurodevelopmental comorbidities, early age of epilepsy onset, unexplained drug-refractory epilepsy, and positive family history have demonstrated the highest likelihood of yielding positive genetic test results. Given the diagnostic efficacy across different testing modalities, reducing costs of next-generation sequencing tests, and genetic diversity of epilepsies, exome sequencing or genome sequencing, where feasible and available, have been recommended as the first-tier test. Comprehensive clinical phenotyping at the outset, corroborative evidence from radiology and electrophysiology-based investigations, reverse phenotyping, and periodic reanalysis are some of the valuable strategies when faced with inconclusive test results. In this narrative review, the authors aim to simplify the approach to genetic testing in epilepsy by guiding on the selection of appropriate testing tools in the indicated clinical scenarios, addressing crucial aspects during pre- and post-test counseling sessions, adeptly navigating the traps posed by uncertain or negative genetic variants, and paving the way forward to the emerging testing modalities beyond DNA sequencing.

Genetic Advancements in Infantile Epileptic Spasms Syndrome and Opportunities for Precision Medicine.

Infantile epileptic spasms syndrome (IESS) is a devastating developmental epileptic encephalopathy (DEE) consisting of epileptic spasms, as well as one or both of developmental regression or stagnation and hypsarrhythmia on EEG. A myriad of aetiologies are associated with the development of IESS; broadly, 60% of cases are thought to be structural, metabolic or infectious in nature, with the remainder genetic or of unknown cause. Epilepsy genetics is a growing field, and over 28 copy number variants and 70 single gene pathogenic variants related to IESS have been discovered to date. While not exhaustive, some of the most commonly reported genetic aetiologies include trisomy 21 and pathogenic variants in genes such as TSC1, TSC2, CDKL5, ARX, KCNQ2, STXBP1 and SCN2A. Understanding the genetic mechanisms of IESS may provide the opportunity to better discern IESS pathophysiology and improve treatments for this condition. This narrative review presents an overview of our current understanding of IESS genetics, with an emphasis on animal models of IESS pathogenesis, the spectrum of genetic aetiologies of IESS (i.e., chromosomal disorders, single-gene disorders, trinucleotide repeat disorders and mitochondrial disorders), as well as available genetic testing methods and their respective diagnostic yields. Future opportunities as they relate to precision medicine and epilepsy genetics in the treatment of IESS are also explored.

Feasibility and utilization of a national virtual EEG course for Canadian residents and fellows.

OBJECTIVE: Electroencephalography (EEG) is an essential tool for the diagnosis and management of epilepsy. There is a gap in EEG education for residents in Canadian neurology programs as EEG is only listed in the training requirements as a procedural skill. There is currently no standardized EEG curriculum among Canadian epilepsy fellowship programs. METHODS: We conducted two iterations of a structured virtual EEG course from June to October 2021, and from March to June 2022. Trainees were recruited via Canadian neurology residency and epilepsy fellowship programs and were required to join the Canadian League Against Epilepsy (CLAE) as junior members. We obtained trainee demographic information before and after each course as well as analytical data on the video recordings posted on the CLAE website. RESULTS: A total of 77 trainees registered for the two courses; majority of trainees were adult neurology residents (34%) and adult epilepsy fellows (32%). Prior theoretical EEG teaching was reported as limited by more than half (53%) of participants. The average number of unique viewers per recorded video in 2021 was 29.7 interquartile range (16-35.5), while in 2022, the average was 22.5, interquartile range (16-28). Post-course questionnaire data revealed that 82% of participants strongly agreed that the course enhanced their knowledge. All participants were either likely (27%) or very likely (73%) to recommend the course to their peers. SIGNIFICANCE: National virtual EEG education is both feasible and accessible; therefore, this is a promising modality of teaching to meet the significant demand for high-quality EEG education among neurology trainees.

SUDEP: what do parents want to know?

PURPOSE: Our objective was to understand the range of parental views on whether and how to approach the issue of SUDEP with families, to clarify the optimal timing and formulation of the information, and to learn from parents the optimal counseling strategies in order to minimize the inherent emotional burden. METHODS: The principles of fundamental qualitative description were used to guide this descriptive and exploratory study of parental experiences and perceptions. Stratified purposeful sampling included parents (i) who lost children to SUDEP, (ii) of children with moderate to severe epilepsy, (iii) of children with mild epilepsy, and (iv) of children with new-onset epilepsy. Focus group and in-depth one-on-one interviews were conducted. The principles of directed content analysis were used to code and categorize the focus group and interview data. Key concepts from the interview guide were used as the first level of coding categories. Codes were subsequently collapsed into broader categories. RESULTS: There was full agreement, across both genders and regardless of seizure severity, that routine counseling about SUDEP should be provided by pediatric neurologists, during the appointment when the diagnosis of epilepsy is shared with parents, and with opportunities for short-term follow-up and discussions with clinical nurses or social workers. Parents described feeling overwhelmed, worried, and increasingly anxious when the risk of SUDEP was explained to them. Parents generally expressed a preference for receiving routine SUDEP counseling at the time of the diagnosis of epilepsy. Across all groups of parents, it was identified that SUDEP counseling should occur in a face-to-face interaction with the neurologist. In learning about SUDEP, parents expressed a need to be informed of the risk of SUDEP. There was group endorsement for receiving written information about SUDEP to reinforce the content shared by the neurologist. There was a consensus that it should be the parents' decision as to whether or not the child should be present at the meeting or when to inform the child about the risk of SUDEP. CONCLUSION: Participants in this study opined that all parents of children with epilepsy should receive routine SUDEP counseling and have access to ongoing professional support. Based on these findings, it is imperative for pediatric neurologists to refine their communication skills when counseling parents about SUDEP.