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Transition of care is the planned, coordinated movement from a child and family environment of pediatrics to a patient centered adult care setting. Epilepsy is a common neurological condition. While seizures remit in a proportion of children, in around 50% of children seizures persist into adulthood. Also, with advances in diagnostics and therapeutics, more children with epilepsy survive into adulthood, and need services of adult neurologists. Clinical guidelines from the American Academy of Pediatrics, American College of Family Physicians and American College of Physicians called for "supporting the healthcare transition from adolescence to adulthood", but this occurs in a minority of patients. There are several challenges to implementing transition of care at the level of the patient and family, pediatric and adult neurologist and with systems of care. Transition needs vary based on the type of epilepsy and epilepsy syndrome and presence of co-morbidities. Transition clinics are essential to effective transfer of care, but implementation remains extremely variable, with a variety of clinics or program structures in countries around the world. There is a need to develop multidisciplinary transition clinics, enhance physician education and establish national guidelines for this important process to be put into practice. Further studies are also needed to develop best practices and assess outcomes of well executed transition programs on epilepsy., (© 2023. The Author(s), under exclusive licence to Dr. K C Chaudhuri Foundation.)

This cross-sectional study was designed to determine the current status of transition of care for adolescents with epilepsy to adult neurological services in India and to understand pediatric neurologists' perspectives. After approval from the appropriate Ethics Committee, a pre-designed questionnaire was distributed electronically. Twenty-seven pediatric neurologists from 11 cities across India responded. Pediatric care ended under 15 y for 55.4% responders and at 18 y in another 40.7%. Eighty nine percent introduced the concept of transition or had transition discussions with their patients and parents. Majority of providers did not have a formal plan for transferring the children with epilepsy to an adult neurologist, and very few had transition clinics. Communication with adult neurologists was also variable. Several pediatric neurologists followed patients after transfer for varying periods of time. This study demonstrates increasing awareness regarding the importance of transition of care in this population., (© 2023. The Author(s), under exclusive licence to Dr. K C Chaudhuri Foundation.)

Objective: To assess Epilepsy Quality Metrics (EQM) and guideline implementation in new pediatric patients seen in telemedicine. Methods: Multicenter, cross sectional, retrospective analysis. Results: Patients were similar across 3 centers for age, gender, and insurance type. Eighty-one percent presented for spells. One hundred sixty patients with epilepsy formed the EQM cohort. Results: Seizures described: 95%; frequency: 67%, last seizure documented: 81%, epilepsy syndrome documented: 67%; epilepsy diagnosis: 77%, medications reviewed: 56%, adverse events discussed: 73%. Quality of life discussed: 3%. Anticipatory guidance was described as follows: seizure safety, 57%; driving, 47%; SUDEP, 11%; vitamin D discussion, 19%; pregnancy and folic acid counseling, 4% and 10%. Epileptologists were 4 times as likely as generalists in discussing driving safety (odds ratio 3.93, 95% confidence interval 1.7-8.9; P  = .001) for all ages. Significance: Performance on EQM and guideline implementation in pediatric epilepsy telemedicine encounters can be improved.

Access to paediatric neurology care is complex, resulting in significant wait times and negative patient outcomes. The goal of the American Academy of Pediatrics National Coordinating Center for Epilepsy's project, Access Improvement and Management of Epilepsy with Telehealth (AIM-ET), was to identify access and management challenges in the deployment of telehealth technology. AIM-ET organised four paediatric neurology teams to partner with primary-care providers (PCP) and their multidisciplinary teams. Telehealth visits were conducted for paediatric epilepsy patients. A post-visit survey assessed access and satisfaction with the telehealth visit compared to an in-person visit. Pre/post surveys completed by PCPs and neurologists captured telehealth visit feasibility, functionality and provider satisfaction. A provider focus group assessed facilitators and barriers to telehealth. Sixty-one unique patients completed 75 telehealth visits. Paired t-test analysis demonstrated that telehealth enhanced access to epilepsy care. It reduced self-reported out-of-pocket costs ( p <0.001), missed school hours ( p <0.001) and missed work hours ( p <0.001), with 94% equal parent/caregiver satisfaction. Focus groups indicated developing and maintaining partnerships, institutional infrastructure and education as facilitators and barriers to telehealth. Telehealth shortened travelling distance, reduced expenses and time missed from school and work. Further, it provides significant opportunity in an era when coronavirus disease 2019 limits in-person clinics.

Objective: Project ECHO (Extension for Community Healthcare Outcomes), a telementoring program, utilizes lectures, case-based learning, and an "all teach-all learn" approach to increase primary care provider (PCP) knowledge/confidence in managing chronic health conditions. The American Academy of Pediatrics (AAP) Epilepsy and Comorbidities ECHO incorporated quality improvement (QI) methodology to create meaningful practice change, while increasing PCP knowledge/self-efficacy in epilepsy management using the ECHO model., Methods: Monthly ECHO sessions (May 2018 to December 2018) included lectures, case presentations/discussion, and QI review. Pediatric practices were recruited through the AAP. Practices engaged in ECHO sessions and improvement activities including monthly Plan-Do-Study-Act cycles, team huddles, chart reviews, and QI coaching calls to facilitate practice change. They were provided resource toolkits with documentation templates, safety handouts, and medication side effects sheets. QI measures were selected from the American Academy of Neurology Measurement Set for Epilepsy. The AAP Quality Improvement Data Aggregator was used for data entry, run chart development, and tracking outcomes. Participants completed retrospective surveys to assess changes in knowledge and self-efficacy., Results: Seven practices participated across five states. Average session attendance was 14 health professionals (range = 13-17). A total of 479 chart reviews demonstrated improvement in six of seven measures: health care transition (45.3%, P = .005), safety education (41.6%, P = .036), mental/behavioral health screening (32.2% P = .027), tertiary center referral (26.7%, not significant [n.s.]), antiseizure therapy side effects (23%, n.s.), and documenting seizure frequency (7.1%, n.s.); counseling for women of childbearing age decreased by 7.8%., Significance: This project demonstrated that integrating QI into an ECHO model results in practice change and increases PCP knowledge/confidence/self-efficacy in managing epilepsy., (© 2020 The Authors. Epilepsia published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)

Objective: There are no evidence-based guidelines on the preferred approach to treating early-life epilepsy. We examined initial therapy selection in a contemporary US cohort of children with newly diagnosed, nonsyndromic, early-life epilepsy (onset before age three years)., Methods: Seventeen pediatric epilepsy centers participated in a prospective cohort study of children with newly diagnosed epilepsy with onset under 36 months of age. Details regarding demographics, seizure types, and initial medication selections were obtained from medical records., Results: About half of the 495 enrolled children with new-onset, nonsyndromic epilepsy were less than 12 months old at the time of diagnosis (n = 263, 53%) and about half (n = 260, 52%) had epilepsy with focal features. Of 464 who were treated with monotherapy, 95% received one of five drugs: levetiracetam (n = 291, 63%), oxcarbazepine (n = 67, 14%), phenobarbital (n = 57, 12%), topiramate (n = 16, 3.4%), and zonisamide (n = 13, 2.8%). Phenobarbital was prescribed first for 50 of 163 (31%) infants less than six months old versus seven of 300 (2.3%) of children six months or older (P < 0.0001). Although the first treatment varied across study centers (P < 0.0001), levetiracetam was the most commonly prescribed medication regardless of epilepsy presentation (focal, generalized, mixed/uncertain). Between the first and second treatment choices, 367 (74%) of children received levetiracetam within the first year after diagnosis., Conclusions: Without any specific effort, the pediatric epilepsy community has developed an unexpectedly consistent approach to initial treatment selection for early-life epilepsy. This suggests that a standard practice is emerging and could be utilized as a widely acceptable basis of comparison in future drug studies., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Background: Children with public insurance (Medicaid) have increased barriers to specialty care in the United States. For children with epilepsy, the relationship between public insurance and barriers to genetic testing is understudied., Methods: We surveyed a sample of US child neurology clinicians. We performed quantitative and qualitative analysis of responses., Results: There were 302 responses (of 1982 surveyed; response rate 15%) from clinicians from 46 states, the District of Columbia, and Puerto Rico, including board-certified child neurologists (82%), resident physicians (6%), nurses (3%), and nurse practitioners (3%). Clinicians felt it was more difficult to get genetic testing for patients with Medicaid insurance compared with commercial insurance, (43% vs 12%, P < 0.05), although many felt it was about the same degree of difficulty (25%) or were not sure (20%). Increased availability of testing was associated with less complex testing (P < 0.001), in-house testing (P < 0.001), and no preauthorization requirements (P < 0.001). Qualitative responses described barriers related to cost, clinician familiarity and comfort, commercial laboratories, health care organization, payer, and patient concerns. Descriptions of facilitators included lowered cost, availability of clinical genetics expertise, clinician knowledge, commercial laboratory assistance, health care organizational changes, improved payer coverage, and increased interest by parents., Conclusions: Pediatric Medicaid beneficiaries with epilepsy have barriers to genetic testing, compared with children with commercial insurance, particularly for more advanced testing. Potential strategies to improve access include broader coverage, lower co-pays, increased capacity for testing outside of specialty laboratories, fewer preauthorization requirements, improved clinician education, ongoing development and dissemination of guidelines, improved availability of clinical genetics services, and continued assistance programs from commercial laboratories., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Infantile spasms (IS) and Lennox-Gastaut syndrome (LGS) are epileptic encephalopathies characterized by early onset, intractable seizures, and poor developmental outcomes. De novo sequence mutations and copy number variants (CNVs) are causative in a subset of cases. We used exome sequence data in 349 trios with IS or LGS to identify putative de novo CNVs. We confirm 18 de novo CNVs in 17 patients (4.8%), 10 of which are likely pathogenic, giving a firm genetic diagnosis for 2.9% of patients. Confirmation of exome-predicted CNVs by array-based methods is still required due to false-positive rates of prediction algorithms. Our exome-based results are consistent with recent array-based studies in similar cohorts and highlight novel candidate genes for IS and LGS.

Emerging evidence indicates that epileptic encephalopathies are genetically highly heterogeneous, underscoring the need for large cohorts of well-characterized individuals to further define the genetic landscape. Through a collaboration between two consortia (EuroEPINOMICS and Epi4K/EPGP), we analyzed exome-sequencing data of 356 trios with the "classical" epileptic encephalopathies, infantile spasms and Lennox Gastaut syndrome, including 264 trios previously analyzed by the Epi4K/EPGP consortium. In this expanded cohort, we find 429 de novo mutations, including de novo mutations in DNM1 in five individuals and de novo mutations in GABBR2, FASN, and RYR3 in two individuals each. Unlike previous studies, this cohort is sufficiently large to show a significant excess of de novo mutations in epileptic encephalopathy probands compared to the general population using a likelihood analysis (p = 8.2 × 10(-4)), supporting a prominent role for de novo mutations in epileptic encephalopathies. We bring statistical evidence that mutations in DNM1 cause epileptic encephalopathy, find suggestive evidence for a role of three additional genes, and show that at least 12% of analyzed individuals have an identifiable causal de novo mutation. Strikingly, 75% of mutations in these probands are predicted to disrupt a protein involved in regulating synaptic transmission, and there is a significant enrichment of de novo mutations in genes in this pathway in the entire cohort as well. These findings emphasize an important role for synaptic dysregulation in epileptic encephalopathies, above and beyond that caused by ion channel dysfunction.

Objective: To design and validate a transition readiness assessment tool for adolescents and young adults with epilepsy and without intellectual disability. Methods: We adapted a general transition readiness assessment tool (TRAQ) to add epilepsy‐relevant items based on concepts in current epilepsy quality measures. The adapted tool, EpiTRAQ, maintained the original structure and scoring system. Concurrent with clinical implementation in pediatric and adult epilepsy clinics at an academic medical center, we assessed the validity and reliability of this adapted tool for patients 16‐26 years of age. This process included initial validation with 302 patients who completed EpiTRAQ between October 2017 and May 2018; repeat validation with 381 patients who completed EpiTRAQ between June 2018 and September 2019; and retest reliability among 153 patients with more than one completed EpiTRAQ. Results: Mean scores were comparable between initial and repeat validation populations (absolute value differences between 0.05 and 0.1); internal consistency ranged from good to high. For both the initial and repeat validation, mean scores and internal consistency demonstrated high comparability to the original TRAQ validation results. Upon retest, few patients rated themselves with a lower score, while the majority rated themselves with higher scores. Significance: EpiTRAQ is a valid and reliable tool for assessing transition readiness in adolescents and young adults with epilepsy and without intellectual disability. [ABSTRACT FROM AUTHOR]

Objective The multicenter National Infantile Spasms Consortium prospective cohort was used to compare outcomes and phenotypic features of patients with infantile spasms with and without hypsarrhythmia. Methods Patients aged 2 months to 2 years were enrolled prospectively with new-onset infantile spasms. Treatment choice and categorization of hypsarrhythmia were determined clinically at each site. Response to therapy was defined as resolution of clinical spasms (and hypsarrhythmia if present) without relapse 3 months after initiation. Results Eighty-two percent of patients had hypsarrhythmia, but this was not associated with gender, mean age, preexisting developmental delay or epilepsy, etiology, or response to first-line therapy. Infants with hypsarrhythmia were more likely to receive standard treatment (adrenocorticotropic hormone, prednisolone, or vigabatrin [odds ratio ( OR) 2.6, 95% confidence interval ( CI) 1.4-4.7] and preexisting epilepsy reduced the likelihood of standard treatment ( OR 3.2, 95% CI 1.9-5.4). Hypsarrhythmia was not a determinant of response to treatment. A logistic regression model demonstrated that later age of onset ( OR 1.09 per month, 95% CI 1.03-1.15) and absence of preexisting epilepsy ( OR 1.7, 95% CI 1.06-2.81) had a small impact on the likelihood of responding to the first-line treatment. However, receiving standard first-line treatment increased the likelihood of responding dramatically: vigabatrin ( OR 5.2 ,95% CI 2-13.7), prednisolone ( OR 8, 95% CI 3.1-20.6), and adrenocorticotropic hormone (ACTH; OR 10.2, 95% CI 4.1-25.8) . Significance First-line treatment with standard therapy was by far the most important variable in determining likelihood of response to treatment of infantile spasms with or without hypsarrhythmia. [ABSTRACT FROM AUTHOR]

We surveyed ketogenic diet centers in North America about their practices surrounding the ketogenic diet. An internet survey was disseminated via REDCap© to North American ketogenic diet centers identified from the Charlie Foundation and Ketocal© websites. Fifty-six centers responded. In addition to physicians, nurses and dieticians, ketogenic teams included social workers (39%), feeding specialists (14%), educational liaisons (4%), psychologists (5%), and pharmacists (36%). A child attending school (2%), non–English speaking family (19%), single-parent family (0%), and oral feeding (6%) were rarely considered barriers. Overall, the diet was considered the first or second (0%), third or fourth (67%), fifth or sixth (29%), and last resort treatment (4%) by centers. It was considered the first or second treatment for GLUT1 disease (86%) and third or fourth for Dravet (63%), West (71%), and Doose (65%) syndromes. Ketogenic diet is no longer a last resort option. Traditional barriers do not influence its use. [ABSTRACT FROM PUBLISHER]

Keywords: Genetic epilepsy; SCN1B; Sodium channel; Generalized epilepsy with febrile seizures plus EN Genetic epilepsy SCN1B Sodium channel Generalized epilepsy with febrile seizures plus 121 122 2 06/19/20 20200701 NES 200701 Patient Description This child experienced a febrile seizure at age 26 months. His cvEEG at 31 months demonstrated myoclonic seizures occurring two to three times per hour, atonic seizures occurring twice a day, and bilateral tonic seizures occurring once a day. Discussion SCN1B was the first gene identified for genetic epilepsy with febrile seizures plus,[1] which spans a range of phenotypes including epilepsy with myoclonic-atonic seizures. [Extracted from the article]