Epileptic Disorders最新文献

Objective: Assessment of the value of review of home videos by a pediatric multidisciplinary team (MDT) in a pediatric neurophysiology department.

Methods: We describe and evaluate the review of home videos alongside clinical history and previous investigations from patients referred to the Evelina pediatric EEG department at a twice-monthly MDT meeting between 01/2021 and 09/2022. We retrospectively analyzed measures of video quality, quantity and duration, time taken from referral to MDT meeting, pre-MDT and post-MDT meeting proposed diagnosis and clinical outcomes. Feedback from referring doctors was obtained by a survey.

Results: There were 36 referrals for 34 patients totalling 123 videos. There was a median delay of 10 days between video upload and final report. After the MDT meeting the number of referrals classified as uncertain fell from 15 to 2. The number of referrals classified as non-epileptic events increased from seven to 18. The number classified as infantile spasms fell from six to two. Overall, 26 of 36 referrals had a change in diagnosis and 26 of 36 referrals were triaged away from the video-EEG telemetry (VT) waiting list. Nine out of ten referring doctors reported that MDT discussion improved their understanding of the events.

Significance: HVR is a useful tool that has been successfully incorporated into our neurophysiology department's workflow. These early results suggest benefits from adopting an MDT meeting may include an early diagnosis and management approach based upon consensus. Using HVR in a pediatric population may help triage urgent cases, conserve specialized neurophysiological investigations and streamline workflows to improve the efficiency of pediatric referrals.

In 1921, the classic ketogenic diet was created at the Mayo Clinic in Rochester, Minnesota to treat epilepsy in children and adults. Over a century later, it is a widely used, standard-of-care therapy for typically treatment-resistant epilepsy worldwide. There are currently five versions of ketogenic diet therapy that can be started either in or out of the hospital setting. It is overall effective in approximately half of children started, usually within a few months. Established indications for ketogenic diet therapy exist, in which this treatment may potentially even be more advantageous than antiseizure medications. Some of these indications include Glut1 deficiency, pyruvate dehydrogenase deficiency, infantile epileptic spasms syndrome, epilepsy with myoclonic-atonic seizures, and formula-fed children. Although most children are also receiving antiseizure medications with ketogenic diet therapy, its use may lead to medication reduction or withdrawal in some cases, and improvement in cognition and quality of life. Supplements are begun when ketogenic diet therapy is initiated in order to prevent common side effects, including constipation, kidney stones, growth disturbance, and dyslipidemia. Typically, after 2 years in most children, ketogenic diet therapy is discontinued gradually.

Objective: The aim of this paper was to visualize 3-dimensional (3-D) brain and electrode placement data for epilepsy surgery within an augmented reality (AR) environment using a wearable headset, with the ultimate goal of enhancing presurgical planning for epilepsy surgery and understanding the efficiency and utility of such a program in a clinical setting. The evaluation process for surgical intervention in epilepsy cases involves a series of extensive tests, including EEG, MRI, PET, SPECT, and fMRI. A second phase of assessment incorporates the placement of depth electrodes within the brain to record seizure activity. The culmination of these complex data is presented to the neurosurgery team for the formulation of a surgical plan. However, the conventional presentation of intricate 3-D data on a 2-dimensional (2-D) computer monitor limits the ability to convey the full depth and detail of the patient's brain and electrode data.

Methods: Five images were selected from a cohort of patients being evaluated for refractory epilepsy at a single center. Their presurgical MRI scans, SEEG electrode data, and CT scans were utilized to generate 3-D AR representations, which were uploaded onto the Duke Augmented Reality Epilepsy Planner (AREP), an application on the Microsoft HoloLens 2. A survey was administered to faculty members to determine usability and effectiveness of the application.

Results: AR images of the brain and electrodes, allowing resizing, movement, and rotation, with distinct colors differentiating tissue and electrodes, were presented in AREP. The application featured an interactive image manipulation menu. Survey results from 18 faculty members regarding seven questions indicated that AREP was user-friendly and can be effective in presurgical planning moving forward.

Significance: AR integration of medical imaging data for epilepsy surgery transcends its role as a communication tool. It provides a deeper representation of surgical anatomy and serves as a valuable method for fostering communication among clinicians.

We performed a systematic review of the localizational value of disturbances of self-integration, depersonalization and forced thinking in focal epilepsy with the aim to summarize the state-of-the-art anatomo-clinical correlations in the field and help guide interpretation of ictal semiology within the framework of pre-surgical evaluation. The review was performed using a PRISMA- and QUADAS2-based approach. Three separate PubMed and EMBASE searches were undertaken using the keywords self-integration, depersonalization and forced thinking, along with synonyms, in combination with terms to identify epileptogenic zone as defined by surgical outcome, MRI-findings or intracranially recorded EEG. Studies published in peer-reviewed journals with an abstract available, limited to English, French, German, Spanish, or Italian were included for review. Abstracts from scientific meetings were included if precise data on semiology in addition to either localization or surgical outcome was presented. Cases were regarded as eligible if data informing on anatomo-clinical correlations were sufficient to allow determination of an epileptogenic zone and evaluate its level of confidence. For disturbances of self-integration, the search identified 18 publications containing 23 eligible cases, with 10 additional cases identified in the literature. For depersonalization, a single case from a two patient study fulfilled inclusion criteria. For forced thinking, the search identified two publications containing four eligible cases, with six additional cases identified through literature searches. The retrieved cases suggest that disturbances of self-integration often reflect an epileptogenic zone centered around the temporoparietal region, where neighboring areas in the parietal lobe, the posterior insula, and likely depending on the type of disturbance also the adjoining occipital lobe, the anterior and middle cingulum, premotor and supplementary motor in addition to medial temporal structures could be involved. When present, lateralized symptomatology reflects a contralateral focus. Depersonalization, as a localizing ictal phenomenon was quite elusive. Forced thinking either pointed to premotor frontal or temporal epileptogenic zones. Currently, outlined epileptogenic zones of ictal disturbances of self-integration and forced thinking are quite widespread and should be regarded with a low-to-moderate degree of reliability. A focus on such rarer ictal phenomena, in combination with improved imaging techniques and increased use of SEEG, will hopefully lead to an accumulation of cases with better defined epileptogenic zones.

Epilepsy with myoclonic-atonic seizures (EMAS) is an early childhood epilepsy syndrome with an explosive onset of multiple seizure types in a previously healthy child. EMAS often evolves to a drug-resistant epileptic encephalopathy before a variable degree of remission around 3 years from onset. Highly purified cannabidiol (CBD, available in United States as Epidiolex®) has demonstrated efficacy and tolerability as an adjunct in medically refractory EMAS. We present two cases of medically refractory EMAS achieving rapid seizure freedom (7-30 days) with CBD, illustrating CBD as a potential effective monotherapy in EMAS.

Focal cortical dysplasia (FCD) is a common cause of drug-resistant focal epilepsy in children and young adults and is often surgically remediable. The genetics of FCD are increasingly understood due to the ability to perform genomic testing including deep sequencing of resected FCD tissue specimens. There is clear evidence that FCD type II occurs secondary to both germline and somatic mTOR pathway variants, while emerging literature supports the role of SLC35A2, a glycosylation gene, in mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy (MOGHE). Herein, we provide a review of FCDs focusing on their clinical phenotypes, genetic basis, and management considerations when performing genetic testing in this patient group.

Objective: Sunflower syndrome is a rare photosensitive childhood-onset epilepsy, featuring repetitive handwaving events (HWE) triggered by light. Objective documentation of these HWE can be difficult due to the numerous events occurring daily and/or caregivers who document the seizures but are not always present. Hence, seizure diaries can be underreporting.

Methods: We performed a feasibility study in three Belgian Sunflower syndrome individuals to assess the possibility to quantify the HWE by a wrist-worn wearable device (Axivity AX6). We conducted a structured exercise aiming to capture patterns of possible confounders in a controlled environment. Subsequently, patients wore the device for three to six consecutive days and nights at home. Spectral power analyses were performed to characterize the frequency signature of the different movements.

Results: The HWE of patient A and B showed homogeneity and narrow-band frequencies. Patient C did not experience any HWE at the start of the study due to proper seizure control. Regarding HWE, there was a higher spectral power for Gyroscope Z (Gz) compared to Gy. The inter-subject variability for HWE frequency peaks was in the 3-6 Hz range. Computer analysis by visual annotation, without checking the seizure diary, detected 71% of the HWE if the HWE lasted for longer than 5 s (sensitivity 64%). For shorter HWE duration, the detection rate was 50% but seemed to be higher if there was a concordant change of eye movement (63%) (sensitivity 36%). The most obvious confounder was toothbrushing (TB). However, TB showed a different pattern: that is, higher or comparable spectral power for Gy compared to Gz. There was also a higher or comparable spectral power for Gy compared to Gz for "waving hello".

Significance: We show that the wearable movement sensor Axivity AX6 can detect HWE in Sunflower syndrome individuals and distinguish them from confounders in a real-world setting.

Objective: Despite growing recognition of the efficacy of ketogenic diet therapies (KDT) in reducing seizure frequency and improving the quality of life for individuals with epilepsy, several factors hinder their widespread adoption across Latin America. Specific challenges in the region have been discussed but not formally studied. Currently, no data exist on the availability and operation of KDT teams in the region. To address this gap, we conducted a survey of KDT centers across Latin American countries in the framework of the biannual International Ketogenic Diet Conference in September 2023.

Methods: A seven-question survey was distributed via email to neurologists, dietitians, or through indexed publications.

Results: Of the 16 centers approached, 14 (87.5%) responded, identifying 98 KDT centers. Nearly half (49%) are public institutions, primarily in Brazil, Chile, and Mexico; 44 are private; and 5 are mixed. Core teams in all centers included a neurologist and dietitian, with some teams in Argentina, Chile, and Paraguay also involving a medical nutritionist. None of the centers reported a protocol for transitioning to adult care, and consistent data on Glut1 patients and protocols were lacking.

Significance: Over the past two decades, the KDT landscape in Latin America has improved, with established centers expanding and new ones emerging. However, continued efforts are needed to promote KDT adoption in countries where it is not yet practiced and in regions with limited resources and expertise.

Objective: To employ the neonatal seizure framework developed by the International League Against Epilepsy (ILAE) Neonatal Task force to assess its usefulness in determining the etiology of neonatal seizures.

Methods: The members of the ILAE Neonatal Task Force evaluated 157 seizures from 146 neonates to determine internal validity and associations between semiology and a specific etiology.

Results: Provoked neonatal electrographic and electroclinical seizures were due to multiple etiologies. For electroclinical seizures, unilateral clonic seizures were typically seen with vascular etiologies, focal tonic seizures and sequential seizures with genetic etiologies, and myoclonic seizures with inborn errors of metabolism. Electrographic seizures were often seen in hypoxic-ischemic encephalopathy or vascular etiologies.

Significance: These data suggest that the ILAE neonatal seizure classification may be used as a bedside tool to aid and guide workup to determine the etiology of seizures.