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.

Role of EEG as a monitoring tool in patients with glucose transporter type I deficiency syndrome (GLUT1-DS) on ketogenic diet.

RATIONALE: Glucose transporter type I deficiency syndrome (GLUT1-DS) is the fourth most frequent single-gene epilepsy refractory to standard antiepileptic drugs. Multiple seizure types and variable electrographic findings are reported. Ketogenic diet is expected to result in the complete resolution of the epileptiform activity. METHODS: A retrospective chart review of patients with GLUT1-DS on ketogenic diet between December 2012 and February 2022 was done. Analysis of the EEGs prior to and during the ketogenic diet was done. RESULTS: 34 patients on ketogenic diet were reviewed. Ten had clinical diagnosis of GLUT1-DS, and seven of them had genetic confirmation. 71% were female. The average age at seizure onset was 13.85 m.o. (range: 3-60, SD ±20.52), at diagnosis was 44.57 m.o (range: 19-79), and at the onset of ketogenic diet was 46.43 m.o. (range: 20-83). 29 months (range: 13-38) delay between symptoms onset until diagnosis was noticed. At the diagnosis 100% reported seizures: 71% myoclonic, 57% generalized motor, 57% absence, 28% atonic, and 14% focal motor. Also, 71% abnormal eye movements, 57% ataxia, and 28% intolerance to fasting. 86% had normal brain MRI. 71% had abnormal EEG. All were on ketogenic diet, and four on classical (1.75:1-2.25:1 ratio). Six were clinically seizure-free after the ketogenic diet. EEG features included notch delta, focal spike and wave, and generalized spike/polyspike and wave. One patient had bilateral independent centrotemporal spikes. Spikes showed high and very high amplitude in all of them (>200 µV). The variation of the spike index decreased in three patients but increased in two. CONCLUSION: Ketogenic diet is the choice treatment for patients with GLUT1-DS. Electrographic features could show worsening after initiation of the ketogenic diet even with seizure control. EEG did not prove to be a reliable tool for adjusting KD in our cohort. Centrotemporal spikes have not been reported in patients with GLUT-1 DS.

Attributes of excellent clinician teachers and barriers to recognizing and rewarding clinician teachers' performances and achievements: a narrative review.

Background: Over the last 31 years, there have been several institutional efforts to better recognize and reward clinician teachers. However, the perception of inadequate recognition and rewards by clinician teachers for their clinical teaching performance and achievements remains. The objective of this narrative review is two-fold: deepen understanding of the attributes of excellent clinician teachers considered for recognition and reward decisions and identify the barriers clinician teachers face in receiving recognition and rewards. Methods: We searched OVID Medline, Embase, Education Source and Web of Science to identify relevant papers published between 1990 and 2020. After screening for eligibility, we conducted a content analysis of the findings from 43 relevant papers to identify key trends and issues in the literature. Results: We found the majority of relevant papers from the US context, a paucity of relevant papers from the Canadian context, and a declining international focus on the attributes of excellent clinician teachers and barriers to the recognition and rewarding of clinician teachers since 2010. 'Provides feedback', 'excellent communication skills', 'good supervision', and 'organizational skills' were common cognitive attributes considered for recognition and rewards. 'Stimulates', 'passionate and enthusiastic', and 'creates supportive environment', were common non-cognitive attributes considered for recognition and rewards. The devaluation of teaching, unclear criteria, and unreliable metrics were the main barriers to the recognition and rewarding of clinician teachers. Conclusions: The findings of our narrative review highlight a need for local empirical research on recognition and reward issues to better inform local, context-specific reforms to policies and practices.

Contexte: Depuis 31 ans, nous sommes témoins d'efforts institutionnels visant à offrir aux cliniciens enseignants une plus grande reconnaissance et à récompenser leur travail. Cependant, d'après leur perception, la valorisation de leurs réalisations en matière d'enseignement clinique demeure insuffisante. Cette revue narrative a un double objectif : d'une part, repérer les qualités qui sont prises en considération en vue de l'octroi d'une reconnaissance officielle ou de l'attribution de récompenses (prix) aux cliniciens enseignants et d'autre part recenser les éléments qui empêchent certains candidats de se voir accorder une telle reconnaissance ou récompense. Méthodes: Nous avons effectué des recherches dans OVID Medline, Embase, Education Source et Web of Science pour repérer les articles pertinents publiés entre 1990 et 2020. Le contenu des résultats des 43 articles sélectionnés a ensuite été analysé pour dégager les principales tendances et questions abordées. Résultats: La plupart des articles pertinents se rapportaient au contexte des États-Unis. En revanche, peu d'articles pertinents concernaient celui du Canada. Sur le plan international, la question des qualités des cliniciens enseignants et des éléments qui peuvent les empêcher d'obtenir la reconnaissance ou une récompense suscite moins d'intérêt depuis 2010. Le fait « d'offrir de la rétroaction ¼, d'avoir « d'excellentes habiletés de communication ¼, d'assurer une « bonne supervision ¼, et un bon « sens de l'organisation ¼ sont des compétences cognitives souvent considérées pour l'octroi de la reconnaissance et l'attribution de récompenses. Parmi les compétences non cognitives, on note le fait d'être « stimulant ¼, d'être « passionné et enthousiaste ¼ et de « créer un environnement offrant du soutien ¼. La dévalorisation de l'enseignement, le manque de critères clairs et l'utilisation de mesures d'évaluation peu fiables sont les principaux obstacles à l'octroi de la reconnaissance ou à l'attribution d'une récompense aux cliniciens enseignants. Conclusions: Les résultats de notre revue narrative mettent en évidence la nécessité de mener des recherches empiriques localement en matière de reconnaissance et de récompense afin d'éclairer les réformes locales des politiques et des pratiques dans le milieu spécifique où elles sont appliquées.

What is the optimal duration for vigabatrin monotherapy in patients with infantile spasms: 6 months or longer?

Vigabatrin (VGB) is approved as monotherapy for pediatric patients with Infantile Spasms (IS). Duration of VGB use should be limited because of the risk of retinal and neurotoxicity, but the optimal length of treatment is unknown. Our study aimed to determine the risk of spasms relapse after 6 months of VGB as first-line therapy in IS patients deemed VGB good responders. The participants were 44 infants with IS who demonstrated both absence of clinical spasms and hypsarrhythmia four weeks after starting VGB, obtained from two cohorts: 29 patients from a multicenter prospective cohort and 15 patients from a retrospective single-center cohort. We divided them post hoc into two groups according to the duration of VGB treatment: 6-month group (n=34) and >6-month group (n=10) and compared outcome between the two groups. No patient in either group had a relapse of spasms. For patients with non-identified etiology (NIE) in the 6 months treatment group, no other seizure types were observed. Late epilepsy, in the form of focal seizures, emerged in only 5/37 patients (3/30 in the 6-month treatment group; 2/7 in the extended treatment group); all within the first 6-9 months after VGB initiation. Our study provides substantial evidence that a shortened VGB course of 6 months could be sufficient to treat and prevent relapse of spasms in children with IS, particularly those with NIE.

Cognitive outcome in children with infantile spasms using a standardized treatment protocol. A five-year longitudinal study.

AIM: To evaluate the long-term developmental trajectory of children with infantile spasms (IS) and identify the clinical protective and risk factors associated with their cognitive outcome. METHODS: We analyzed the five-year follow-up results of 41 children (13 female) from the previously published cohort (n = 68) recruited in a multicenter randomized controlled trial for 2-years, examining the effect of an adjunctive therapy (Flunarizine) on standardized IS treatment. The children were subsequently monitored in an open-label study for additional 3 years.  The Vineland Adaptive Behavior Scale, second edition, and either the Stanford-Binet Intelligence Scale, Fifth Edition (SB5) or the Bayley Scales of Infant Development, second edition (BSID-II) were used as cognitive outcome measures. RESULTS: Etiology was the strongest predictor of outcome. Children with no identified etiology (NIE) showed a progressive improvement of cognitive functions, mostly occurring between 2 and 5 years post-diagnosis.  Conversely, symptomatic etiology was predictive of poorer cognitive outcome. Developmental delay, other seizure types (before and after IS diagnosis), and persistent electroencephalographic abnormalities following treatment were predictive of poor cognitive outcome. INTERPRETATION: Given the 5-year cognitive improvement, children with IS should undergo a developmental assessment before school entry. Factors influencing their cognitive outcome emphasize the importance of thorough investigation and evidence-based treatment.

The importance of mental health in improving quality of life in transition-aged patients with epilepsy.

OBJECTIVE: Adolescents with epilepsy are known to have a lower quality of life (QoL) than the typically developing adolescent population. In order to address this, treating physicians have primarily focused on obtaining seizure control. However, growing evidence suggests a strong relation between QoL and mental health in adults with epilepsy and other chronic conditions. Given the high rate of mental health issues in transition-aged adolescents with epilepsy, this study aimed to examine the relation between QoL and mental health. METHODS: Baseline data from 107 transition-aged adolescents (M = 16.08 years; 52 males, 55 females) enrolled in an epilepsy transition clinic were analyzed for this study. RESULTS: Analysis found that over 56% of participants showed some signs of mental illness, and that these participants had significantly lower QoL scores than those without mental health issues. Furthermore, regression analysis found that both depression and anxiety remained significant, independent predictors of QoL, even when significant epilepsy and demographic variables were accounted for (t(99) = -1.28, p < .001 and t(99) = -1.10, p = .002, respectively). SIGNIFICANCE: Results suggest that in order to ensure best outcomes for these adolescents, it may be important for clinicians to take a holistic approach to treatment, managing and treating both seizures and mental health concerns.

Physically active children with epilepsy have good objective sleep duration and efficiency despite subjective reports of fatigue and sleep problems.

OBJECTIVE: The aim of this study was to longitudinally characterize in children with epilepsy the objective and subjective sleep quality and the relationship between increased physical activity and sleep as well as measures of psychosocial well-being. METHODS: Baseline physical activity and sleep were established in children with epilepsy over four weeks, prior to a 12-week exercise intervention (weekly meeting with exercise counselor). Participants continuously wore a wrist pedometer (Fitbit Flex®) to capture daily number of steps, sleep efficiency, and total sleep time. The Early Childhood Epilepsy Severity Scale (E-Chess) assessed baseline epilepsy severity. Subjective sleep quality (Children's Sleep Habits Questionnaire, CSHQ), quality of life (KIDSCREEN-27; Pediatric Quality of Life Inventory, PedsQL™, 4.0 Core), fatigue (PedsQL™ Multidimensional Fatigue Scale), depression (Children's Depression Inventory-Short), and anxiety (Multidimensional Anxiety Scale for Children) were assessed pre- and post-interventions. RESULTS: Our cohort of 22 children with epilepsy aged 8-14 years was similarly active to peers (11,271 ±â€¯3189 mean steps per day) and displayed normal sleeping patterns (mean sleep efficiency: 87.4% ±â€¯3.08 and mean total sleep time: 521 ±â€¯30.4). Epilepsy severity assessed by E-Chess was low to moderate (median baseline E-Chess score of 6, interquartile range: 5-7). Study outcomes did not change with the intervention. Older children and those with lower baseline activity were more likely to increase their activity during the intervention. Changes in physical activity were not associated with changes in sleep outcomes when accounting for age, sex, and baseline E-Chess score. Subjective sleep quality marginally improved with the intervention (CSHQ total score: 44.5 ±â€¯5.8 at baseline and 41.6 ±â€¯7.2 at the end of study, p = 0.05). Quality of life, fatigue, depression, and anxiety did not change with the intervention (p = 0.55, 0.60, 0.12, and 0.69, respectively). SIGNIFICANCE: Children with epilepsy who are as active as peers without epilepsy have good objective measures of sleep despite self-reported fatigue and parent-reported sleep problems. The physical activity of initially less active and older children with epilepsy may benefit from an exercise counseling intervention.

Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations.

De novo mutations of the TRIM8 gene, which codes for a tripartite motif protein, have been identified using whole exome sequencing (WES) in two patients with epileptic encephalopathy (EE), but these reports were not sufficient to conclude that TRIM8 was a novel gene responsible for EE. Here we report four additional patients presenting with EE and de novo truncating mutations of TRIM8 detected by WES, and give further details of the patient previously reported by the Epi4K consortium. Epilepsy of variable severity was diagnosed in children aged 2 months to 3.5 years of age. All patients had developmental delay of variable severity with no or very limited language, often associated with behavioral anomalies and unspecific facial features or MRI brain abnormalities. The phenotypic variability observed in these patients appeared related to the severity of the epilepsy. One patient presented pharmacoresistant EE with regression, recurrent infections and nephrotic syndrome, compatible with the brain and kidney expression of TRIM8. Interestingly, all mutations were located at the highly conserved C-terminus section of TRIM8. This collaborative study confirms that TRIM8 is a novel gene responsible for EE, possibly associated with nephrotic syndrome. This report brings new evidence on the pathogenicity of TRIM8 mutations and highlights the value of data-sharing to delineate the phenotypic characteristics and biological basis of extremely rare disorders.

Epilepsy: Transition from pediatric to adult care. Recommendations of the Ontario epilepsy implementation task force.

The transition from a pediatric to adult health care system is challenging for many youths with epilepsy and their families. Recently, the Ministry of Health and Long-Term Care of the Province of Ontario, Canada, created a transition working group (TWG) to develop recommendations for the transition process for patients with epilepsy in the Province of Ontario. Herein we present an executive summary of this work. The TWG was composed of a multidisciplinary group of pediatric and adult epileptologists, psychiatrists, and family doctors from academia and from the community; neurologists from the community; nurses and social workers from pediatric and adult epilepsy programs; adolescent medicine physician specialists; a team of physicians, nurses, and social workers dedicated to patients with complex care needs; a lawyer; an occupational therapist; representatives from community epilepsy agencies; patients with epilepsy; parents of patients with epilepsy and severe intellectual disability; and project managers. Three main areas were addressed: (1) Diagnosis and Management of Seizures; 2) Mental Health and Psychosocial Needs; and 3) Financial, Community, and Legal Supports. Although there are no systematic studies on the outcomes of transition programs, the impressions of the TWG are as follows. Teenagers at risk of poor transition should be identified early. The care coordination between pediatric and adult neurologists and other specialists should begin before the actual transfer. The transition period is the ideal time to rethink the diagnosis and repeat diagnostic testing where indicated (particularly genetic testing, which now can uncover more etiologies than when patients were initially evaluated many years ago). Some screening tests should be repeated after the move to the adult system. The seven steps proposed herein may facilitate transition, thereby promoting uninterrupted and adequate care for youth with epilepsy leaving the pediatric system.

Decreased health care utilization and health care costs in the inpatient and emergency department setting following initiation of ketogenic diet in pediatric patients: The experience in Ontario, Canada.

OBJECTIVE: To assess the change in inpatient and emergency department utilization and health care costs in children on the ketogenic diet for treatment of epilepsy. METHODS: Data on children with epilepsy initiated on the ketogenic diet (KD) Jan 1, 2000 and Dec 31, 2010 at Ontario pediatric hospitals were linked to province wide inpatient, emergency department (ED) data at the Institute for Clinical Evaluative Sciences. ED and inpatient visits and costs for this cohort were compared for a maximum of 2 years (730days) prior to diet initiation and for a maximum of 2 years (730days) following diet initiation. KD patient were compared to matched group of children with epilepsy who did not receive the ketogenic diet (no KD). RESULTS: Children on the KD experienced a mean decrease in ED visits of 2.5 visits per person per year [95% CI (1.5-3.4)], and a mean decrease of 0.8 inpatient visits per person per year [95% CI (0.3-1.3)], following diet initiation. They had a mean decrease in ED costs of $630 [95% CI (249-1012)] per person per year and a median decrease in inpatient costs of $1059 [IQR: 7890; p<0.001] per child per year. Compared with the no KD children, children on the diet experienced a mean reduction of 2.1 ED visits per child per year [95% CI (1.0-3.2)] and a mean decrease of 0.6 [95% CI (0.1-1.1)] inpatient visits per child per year. Patients on the KD experienced a reduction of $442 [95% CI (34.4-850)] per child per year more in ED costs than the matched group. The ketogenic diet group had greater median decrease in inpatient costs per child per year than the matched group [p<0.001]. SIGNIFICANCE: Patients initiated on ketogenic diet, experienced decreased ED and inpatient visits as well as costs following diet initiation in Ontario, Canada.

What is the Future of Pediatric Neurology in Canada? Resident and Faculty Perceptions of Training and Workforce Issues.

BACKGROUND: Pediatric neurology trainee numbers have grown considerably in Canada; recent research, however, has shown that the number of pediatric neurology graduates is outpacing the need for future pediatric neurologists. The purpose of this study was to seek the opinion of pediatric neurology program directors and trainees regarding possible solutions for this issue. METHODS: Two focus groups were convened during the Canadian Neurological Sciences Federation annual congress in June 2012; one consisted of current and former program directors, and the other of current pediatric neurology trainees. Groups were asked for their perceptions regarding child neurology manpower issues in Canada as well as possible solutions. Focus groups were audio-recorded and transcribed for analysis. Theme-based qualitative analysis was used to analyze the transcripts. RESULTS: Major themes emerging from both focus groups included the emphasis on community pediatric neurology as a viable option for trainees, including the need for community mentors; recognizing the needs of underserviced areas; and establishing academic positions for community preceptors. The need for career mentoring and support structures during residency training was another major theme which arose. Program directors and trainees also gave examples of ways to reduce the current oversupply of trainees in Canada, including limiting the number of trainees entering programs, as well as creating a long-term vision of child neurology in Canada. CONCLUSIONS: A nationwide dialogue to discuss the supply and demand of manpower in academic and community pediatric neurology is essential. Career guidance options for pediatric neurology trainees across the country merit further strengthening.

Does treatment have an impact on incidence and risk factors for autism spectrum disorders in children with infantile spasms?

OBJECTIVE: Infantile spasms (IS) are a severe form of childhood epilepsy associated with autism spectrum disorders (ASD) in up to 35% of cases. The objective of this post hoc analysis of our randomized control trial was to determine whether rapid diagnosis and treatment of IS could limit the incidence of ASD while identifying risk factors related to ASD outcome. METHODS: Patients with IS were randomized in a standardized diagnostic and treatment protocol. Clinical and electroencephalogram (EEG) evaluations were completed at all eight visits over 5 years, while cognitive evaluations were administered at 0, 6, 24 and 60 months, respectively. Autism was initially screened by means of the Checklist for Autism in Toddlers (CHAT) at 24 months, and formally assessed at the 30-and 60-month follow-ups using the Autism Diagnostic Observation Schedule-Generic (ADOS-G). RESULTS: Of the 69 patients included in the study, 25 could not be assessed due to severe delay or death. Eleven of the 42 patients screened with CHAT, were found to be at risk of an ASD outcome. ADOS was performed in 44 and 10 were diagnosed with ASD. The CHAT proved to correlate highly with the ADOS (80% ppv). Only patients with symptomatic IS developed ASD (p = 0.003). Earlier diagnosis or successful treatment did not correlate with a reduced rate of ASD. Other risk factors were identified such as having chronic epileptic discharges in the frontotemporal areas after disappearance of hypsarrhythmia (p = 0.005 and p = 0.007) and being of nonwhite origin (p = 0.009). SIGNIFICANCE: ASD was only observed in children with sympyomatic IS. Other clinical risk factors include chronic frontotemporal epileptic activity and being of non-white origin. Early diagnosis and treatment did not prevent ASD as an outcome of IS. However, patients at risk for ASD could be identified early on and should in the future benefit from early intervention to potentially improve their long-term outcome.

A follow-up study of cognitive function in young adults who had resective epilepsy surgery in childhood.

This study examined cognitive function in young adults who had epilepsy surgery in childhood. Thirty-seven individuals with medically intractable epilepsy with onset at 16 years or younger who had resective epilepsy surgery at least two years in the past (mean follow-up duration of 8.5 years) were assessed; of these, 13 had seizures within the year prior to the study, and the remainder had none. A comparison group of 16 individuals with childhood-onset intractable epilepsy who had not had surgery, all of whom had experienced at least one seizure in the past 12 months, was also included. The cognitive tests included measures of vocabulary, visuoconstructive ability, memory, and concept formation. Group differences were found only for the vocabulary and verbal memory tests, with the surgical group with seizures having the lowest performance. A subset of the surgical patients had preoperative data available on comparable tests, allowing for an examination of performance over time. Vocabulary scores were higher at follow-up, a finding which was present irrespective of seizure status. The results suggest that after epilepsy surgery in childhood or adolescence, few improvements in cognitive skills related to surgery or seizure outcome are to be expected.

lennox-Gastaut syndrome: an updateon treatment.

Lennox-Gastaut syndrome (LGS) is a severe epileptic encephalopathy. Few current treatment options are effective in improving seizure control. This paper reviews the available treatments of LGS and discusses a new option in Canada, rufinamide. It is a wide spectrum anticonvulsant, approved in a number of countries for the treatment of LGS. In a randomized controlled trial in the LGS population, adjunctive rufinamide therapy has been shown to offer significantly greater reduction in total seizure frequency and tonic-atonic seizure frequency in comparison to placebo. Efficacy has been assessed over three years and appears to be sustained. Most adverse events were cognitive (e.g. somnolence) or gastrointestinal in nature and in many cases transient or mild. based on the efficacy and safety data on rufinamide obtained to date, this medication will provide additional benefits to patients with LGS in Canada and is an important consideration for our patients in the adjunctive treatment setting.

A randomized controlled trial of flunarizine as add-on therapy and effect on cognitive outcome in children with infantile spasms.

PURPOSE: Cognitive impairment is observed commonly in children with a history of infantile spasms (IS). The goal of this study was to prospectively examine the effect on cognitive outcome of a neuroprotective agent used as adjunctive therapy during treatment of the spasms. METHODS: In a randomized controlled trial, patients received a standardized therapy plus flunarizine or placebo. The standardized treatment consisted of vigabatrin as first-line therapy. Nonresponders were switched to intramuscular synthetic adrenocorticotropic hormone (sACTH depot) after 2 weeks and, if necessary, to topiramate after two additional weeks. The Vineland Adaptive Behavior Scale (VABS) and Bayley Scales of Infant Development (BSID) were used as outcome measures 24 months after the intervention. KEY FINDINGS: Sixty-eight of 101 children diagnosed over 3 years in seven centers in Canada received either adjunctive flunarizine or placebo. Sixty-five of the 68 children (96%) became spasm-free within 8 weeks and no late relapse occurred. Bayley and Vineland results were available at baseline and at 24 months in 45 children. There was no significant difference in the BSID developmental quotient between the flunarizine- and placebo-treated children at baseline (44.3 ± 35.5 vs. 30.9 ± 29.8; p = 0.18) or 24 months later (56.9 ± 33.3 vs. 46 ± 34.2; p = 0.29). However, the 10 flunarizine-treated children with no identified etiology had a better outcome than the eight controls at 24 months on both the Vineland Scale (84.1 ± 11.3 vs. 72.3 ± 9.8; p = 0.03) and the Bayley Scale (87.6 ± 14.7 vs. 69.9 ± 25.3; p = 0.07). SIGNIFICANCE: Our study failed to demonstrate a protective effect of flunarizine on cognitive outcome in a cohort of children with IS. An analysis of subgroups suggested that flunarizine may further improve cognitive outcome in children with no identified etiology.

Quality of life in young adults who underwent resective surgery for epilepsy in childhood.

PURPOSE: This study investigated quality of life (QOL) in young adults who had undergone epilepsy surgery before the age of 16 years. The contribution to QOL of seizure status in the prior year, sex, number of antiepileptic drugs, and mood were evaluated. METHODS: Sixty-nine young adults who had undergone surgery were subdivided into those who were seizure-free in the past year (n = 38) and those who had seizures (n = 31) in that time. A nonsurgical comparison group of young adults (n = 29) with childhood-onset medically intractable epilepsy was also studied. All groups completed measures of QOL and mood. KEY FINDINGS: After accounting for mood, sex, and number of antiepileptic drugs, the seizure-free group reported better cognitive and physical function and overall QOL, experienced less seizure worry, and had better self-perception. Mood was the most consistently predictive covariate, and was independently predictive of many aspects of QOL. SIGNIFICANCE: Seizure freedom associated with surgery in childhood is associated with improved QOL in certain domains. Findings highlight the importance of mood in determining self-perception of QOL.

Central nervous system vasculitis with positive antithyroid antibodies in an adolescent boy.

Hashimoto's encephalopathy is diagnosed when patients exhibit features of corticosteroid-responsive encephalopathy and positive antithyroid antibodies. The relationship between antithyroid antibodies and encephalopathy is subject to considerable debate. We describe corticosteroid-responsive encephalopathy in a 14-year-old boy with positive antimicrosomal antibodies. His history included subtle neurocognitive decline. He presented with seizures. He underwent a brain biopsy before initiating treatment after his third episode. That biopsy was consistent with central nervous system vasculitis. This report is unique because, to our knowledge, it describes the first pretreatment brain biopsy of a pediatric patient who fits the criteria for Hashimoto's encephalopathy.

Hyperekplexia: treatment of a severe phenotype and review of the literature.

Hyperekplexia is a rare disorder caused by autosomal dominant or recessive modes of inheritance and characterized by episodes of exaggerated startle. Five causative genes have been identified to date. The syndrome has been recognized for decades and due to its rarity, the literature contains mostly descriptive reports, many early studies lacking molecular genetic diagnoses. A spectrum of clinical severity exists. Severe cases can lead to neonatal cardiac arrest and death during an episode, an outcome prevented by early diagnosis and clinical vigilance. Large treatment studies are not feasible, so therapeutic measures continue to be empiric. A marked response to clonazepam is often reported but refractory cases exist. Herein we report the clinical course and treatment response of a severely affected infant homozygous for an SLC6A5 nonsense mutation and review the literature summarizing the history and genetic understanding of the disease as well as the described comorbidities and treatment options.

Self-reported symptoms of psychological well-being in young adults who underwent resective epilepsy surgery in childhood.

PURPOSE: This study investigated the relationship of childhood resective surgery for lesional epilepsy and recent seizure history on self-reported symptoms of mood and psychological distress in young adults (aged 18-30). METHODS: Ninety-eight individuals with epilepsy of childhood onset were divided into three groups: a seizure-free surgical group (n = 39), a surgical group still experiencing seizures (n = 31), and a nonsurgical epilepsy comparison group (n = 28). Participants completed two standardized questionnaires about current mood state and psychological and psychiatric symptoms: the Profile of Mood States (POMS) and the Symptom Checklist-90 Revised (SCL-90R). KEY FINDINGS: Forty-eight percent of all participants reported a history of psychological problems. The percentage of the seizure-free surgical group who met the SCL-90R criteria for current clinically significant distress was statistically less than in the other groups. Those who were seizure free also reported significantly fewer total symptoms on the SCL-90R. The current number of antiepileptic medications was related to scores on a number of the scales. SIGNIFICANCE: These results provide modest support for the contention that seizure freedom after pediatric epilepsy surgery is associated with reduced risk for psychological distress during early adulthood.