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An 11-year-old girl with no relevant medical history experienced acute-onset confusion and speech arrest without loss of consciousness, eye deviation, tonic stiffening, or convulsion. At an outside emergency department, her examination included expressive aphasia, right lower facial droop, and right-sided hemiparesis. Noncontrast head CT was negative for acute intracranial pathology, CT angiogram showed patent vasculature, and CT perfusion showed no areas of perfusion mismatch. The patient was transferred to our institution for further management.

Background and purposeEpilepsy is most common in lower-income settings where access to electroencephalography (EEG) is generally poor. A low-cost tablet-based EEG device may be valuable, but the quality and reproducibility of the EEG output are not established.MethodsTablet-based EEG was deployed in a heterogeneous epilepsy cohort in the Republic of Guinea (2018-2019), consisting of a tablet wirelessly connected to a 14-electrode cap. Participants underwent EEG twice (EEG1 and EEG2), separated by a variable time interval. Recordings were scored remotely by experts in clinical neurophysiology as to data quality and clinical utility.ResultsThere were 149 participants (41% female; median age 17.9years; 66.6% ≤21years of age; mean seizures per month 5.7±SD 15.5). The mean duration of EEG1 was 53±12.3min and that of EEG2 was 29.6±12.8min. The mean quality scores of EEG1 and EEG2 were 6.4 [range, 1 (low) to 10 (high); both medians 7.0]. A total of 44 (29.5%) participants had epileptiform discharges (EDs) at EEG1 and 25 (16.8%) had EDs at EEG2. EDs were focal/multifocal (rather than generalized) in 70.1% of EEG1 and 72.5% of EEG2 interpretations. A total of 39 (26.2%) were recommended for neuroimaging after EEG1 and 22 (14.8%) after EEG2. Of participants without EDs at EEG1 (n=53, 55.8%), seven (13.2%) had EDs at EEG2. Of participants with detectable EDs on EEG1 (n=23, 24.2%), 12 (52.1%) did not have EDs at EEG2.ConclusionsTablet-based EEG had a reproducible quality level on repeat testing and was useful for the detection of EDs. The incremental yield of a second EEG in this setting was ~13%. The need for neuroimaging access was evident.

ImportanceIt is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated with clinical management and outcomes.ObjectiveTo evaluate how genetic diagnoses in patients with epilepsy are associated with clinical management and outcomes.Design, Setting, and ParticipantsThis was a retrospective cross-sectional study of patients referred for multigene panel testing between March 18, 2016, and August 3, 2020, with outcomes reported between May and November 2020. The study setting included a commercial genetic testing laboratory and multicenter clinical practices. Patients with epilepsy, regardless of sociodemographic features, who received a pathogenic/likely pathogenic (P/LP) variant were included in the study. Case report forms were completed by all health care professionals.ExposuresGenetic test results.Main Outcomes and MeasuresClinical management changes after a genetic diagnosis (ie, 1 P/LP variant in autosomal dominant and X-linked diseases; 2 P/LP variants in autosomal recessive diseases) and subsequent patient outcomes as reported by health care professionals on case report forms.ResultsAmong 418 patients, median (IQR) age at the time of testing was 4 (1-10) years, with an age range of 0 to 52 years, and 53.8% (n = 225) were female individuals. The mean (SD) time from a genetic test order to case report form completion was 595 (368) days (range, 27-1673 days). A genetic diagnosis was associated with changes in clinical management for 208 patients (49.8%) and usually (81.7% of the time) within 3 months of receiving the result. The most common clinical management changes were the addition of a new medication (78 [21.7%]), the initiation of medication (51 [14.2%]), the referral of a patient to a specialist (48 [13.4%]), vigilance for subclinical or extraneurological disease features (46 [12.8%]), and the cessation of a medication (42 [11.7%]). Among 167 patients with follow-up clinical information available (mean [SD] time, 584 [365] days), 125 (74.9%) reported positive outcomes, 108 (64.7%) reported reduction or elimination of seizures, 37 (22.2%) had decreases in the severity of other clinical signs, and 11 (6.6%) had reduced medication adverse effects. A few patients reported worsening of outcomes, including a decline in their condition (20 [12.0%]), increased seizure frequency (6 [3.6%]), and adverse medication effects (3 [1.8%]). No clinical management changes were reported for 178 patients (42.6%).Conclusions and RelevanceResults of this cross-sectional study suggest that genetic testing of individuals with epilepsy may be materially associated with clinical decision-making and improved patient outcomes.

Drug-resistant epilepsy (DRE) occurs at higher rates in children3 years old. Epilepsy surgery is effective, but rarely utilized in young children despite developmental benefits of early seizure freedom. The present study aims to identify unique patient characteristics and evaluation strategies in children3 years old who undergo epilepsy surgery evaluation as a means to assess contributors and potential solutions to health care disparities in this group.The Pediatric Epilepsy Research Consortium Epilepsy Surgery Database, a multicentered, cross-sectional collaboration of 21 US pediatric epilepsy centers, collects prospective data on children18 years of age referred for epilepsy surgery evaluation. We compared patient characteristics, diagnostic utilization, and surgical treatment between children3 years old and those older undergoing initial presurgical evaluation. We evaluated patient characteristics leading to delayed referral (1 year) after DRE diagnosis in the very young.The cohort included 437 children, of whom 71 (16%) were3 years of age at referral. Children evaluated before the age of 3 years more commonly had abnormal neurological examinations (p = .002) and daily seizures (p = .001). At least one ancillary test was used in 44% of evaluations. Fifty-nine percent were seizure-free following surgery (n = 34), with 35% undergoing limited focal resections. Children with delayed referrals more often had focal aware (p .001) seizures and recommendation for palliative surgeries (p .001).There are relatively few studies of epilepsy surgery in the very young. Surgery is effective, but may be disproportionally offered to those with severe presentations. Relatively low utilization of ancillary testing may contribute to reduced surgical therapy for those without evident lesions on magnetic resonance imaging. Despite this, a sizeable portion of patients have favorable outcome after focal epilepsy surgery resections.

Rationale Implementation of electronic health records may improve the quality, accuracy, timeliness, and availability of documentation. Thus, our institution developed a system that integrated EEG ordering, scheduling, standardized reporting, and billing. Given the importance of user perceptions for successful implementation, we performed a quality improvement study to evaluate electroencephalographer satisfaction with the new EEG report system. Methods We implemented an EEG report system that was integrated in an electronic health record. In this single-center quality improvement study, we surveyed electroencephalographers regarding overall acceptability, report standardization, workflow efficiency, documentation quality, and fellow education using a 0 to 5 scale (with 5 denoting best). Results Eighteen electroencephalographers responded to the survey. The median score for recommending the overall system to a colleague was 5 (range 3-5), which indicated good overall satisfaction and acceptance of the system. The median scores for report standardization (4; 3-5) and workflow efficiency (4.5; 3-5) indicated that respondents perceived the system as useful and easy to use for documentation tasks. The median scores for quality of documentation (4.5; 1-5) and fellow education (4; 1-5) indicated that although most respondents believed the system provided good quality reports and helped with fellow education, a small number of respondents had substantially different views (ratings of 1). Conclusions Overall electroencephalographer satisfaction with the new EEG report system was high, as were the scores for perceived usefulness (assessed as standardization, documentation quality, and education) and ease of use (assessed as workflow efficiency). Future study is needed to determine whether implementation yields useful data for clinical research and quality improvement studies or improves EEG report standardization.

Epilepsy is a common disorder in children and adults that causes significant morbidity and affects many aspects of a patient's lives. Two-thirds of patients with epilepsy are controlled with established antiseizure medications, leaving a significant number of patients searching for other options. The purpose of this review is to provide an overview of recent advancements in the management of treatment-resistant epilepsy in pediatric patients. Recent publications have shown the efficacy of new pharmaceutical options such as fenfluramine and cannabidiol, some of which have been tested specifically in patients with childhood-onset epilepsy syndromes such as Dravet's syndrome and Lennox–Gastaut's syndrome. Furthermore, recent approval by the U.S. Food and Drug Administration of stiripentol has made available a previously difficult-to-obtain option for patients with Dravet's syndrome. Finally, implanted responsive neurostimulation devices for direct cortical stimulation and deep brain stimulation have shown efficacy in adult patients and may represent a thrilling new horizon for pediatric patients.

Background Hormonal therapy is the treatment of choice in most patients with infantile spasms, but the optimal way to provide this therapy is unclear. Intramuscular adrenocorticotropic hormone (ACTH) has historically used first-line; however, there are significant logistical and financial issues. Our institution has used high-dose prednisolone as the first-line hormonal treatment of infantile spasms since 2006 and published our early experience with 15 infants in 2009. This study updates our institutional experience over more than 10 years of continuous use. Methods Charts of infants who presented to the Johns Hopkins Hospital with infantile spasms and were treated with high-dose oral prednisolone (40-60 mg/day) from January, 2006 through December, 2016 were reviewed. Electroclinical response was defined as clinical spasm-freedom and resolution of hypsarrhythmia within two weeks of initiation of therapy. Presence of infantile spasms at three months and adverse effects throughout treatment were evaluated. Results Over the 10-year period, 87 infants with new-onset infantile spasms were treated. Electroclinical response occurred in 64% infants within two weeks; 62% were spasm-free at three months. Fifty-two percent had side effects, primarily irritability, weight gain, and gastroesophageal reflux. Five percent had major adverse events, including gastrointestinal bleeding (n = 2), herpes simplex virus reactivation (n = 1), and necrotizing enterocolitis (n = 1). Conclusions Our results continue to demonstrate that high-dose oral prednisolone is very effective for the treatment of new-onset infantile spasms, with few major adverse effects. Oral prednisolone represents a less expensive, readily available alternative to adrenocorticotropic hormone injections.

Currently two magnetic resonance imaging (MRI) methods have been used to assess periventricular leukomalacia (PVL) severity in infants with congenital heart disease: manual volumetric lesion segmentation and an observational categorical scale. Volumetric classification is labor intensive and the categorical scale is quick but unreliable. We propose the quartered point system (QPS) as a novel, intuitive, time-efficient metric with high interrater agreement. QPS is an observational scale that asks the rater to score MRIs on the basis of lesion size, number, and distribution. Pre- and postoperative brain MRIs were obtained on term congenital heart disease infants. Three independent observers scored PVL severity using all three methods: volumetric segmentation, categorical scale, and QPS. One-hundred and thirty-five MRIs were obtained from 72 infants; PVL was seen in 48 MRIs. Volumetric measurements among the three raters were highly concordant (ρc = 0.94–0.96). Categorical scale severity scores were in poor agreement between observers (κ = 0.17) and fair agreement with volumetrically determined severity (κ = 0.26). QPS scores were in very good agreement between observers (κ = 0.82) and with volumetric severity (κ = 0.81). QPS minimizes training and sophisticated radiologic analysis and increases interrater reliability. QPS offers greater sensitivity to stratify PVL severity and has the potential to more accurately correlate with neurodevelopmental outcomes.

Author(s): Macyszyn, Luke J; Gonzalez-Giraldo, Ernesto; Aversano, Michael; Heuer, Gregory G; Zager, Eric L; Schuster, James M | Abstract: Objective High-energy impact to the head, neck, and shoulder can result in cervical spine as well as brachial plexus injuries. Because cervical spine injuries are more common, this tends to be the initial focus for management. We present a case in which the initial magnetic resonance imaging (MRI) was somewhat misleading and a detailed neurological exam lead to the correct diagnosis.Clinical presentation A 19-year-old man presented to the hospital following a shoulder injury during football practice. The patient immediately complained of significant pain in his neck, shoulder, and right arm and the inability to move his right arm. He was stabilized in the field for a presumed cervical-spine injury and transported to the emergency department.Intervention Initial radiographic assessment (C-spine CT, right shoulder x-ray) showed no bony abnormality. MRI of the cervical-spine showed T2 signal change and cord swelling thought to be consistent with a cord contusion. With adequate pain control, a detailed neurological examination was possible and was consistent with an upper brachial plexus avulsion injury that was confirmed by CT myelogram. The patient failed to make significant neurological recovery and he underwent spinal accessory nerve grafting to the suprascapular nerve to restore shoulder abduction and external rotation, while the phrenic nerve was grafted to the musculocutaneous nerve to restore elbow flexion.Conclusion Cervical spinal-cord injuries and brachial plexus injuries can occur by the same high energy mechanisms and can occur simultaneously. As in this case, MRI findings can be misleading and a detailed physical examination is the key to diagnosis. However, this can be difficult in polytrauma patients with upper extremity injuries, head injuries or concomitant spinal-cord injury. Finally, prompt diagnosis and early surgical renerveration have been associated with better long-term recovery with certain types of injury.