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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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [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]

The optimal evaluation and treatment of children with infantile spasms is unknown. To aid in the development of a standardized approach to infantile spasms, members of the Child Neurology Society were surveyed to determine common practice. The survey had 222 responders with a responder rate of 18.5%. We found that the diagnostic evaluation and the use of first-line treatments varied among responders. For example, although adrenocorticotropic hormone continues to be the most commonly used first-line treatment for infantile spasms not due to tuberous sclerosis, some clinicians use corticosteroids, vigabatrin, and topiramate as first-line treatments for this group. Seventy percent of our responders reported seeing fewer than 10 new-onset cases of infantile spasms per year. Thus, future clinical trials will require multicenter collaboration. An important first step in such collaboration is to standardize the evaluation and treatment of infantile spasms within and between participating centers. [ABSTRACT FROM PUBLISHER]

The lay media and scientific literature have focused increasing attention on vitamin D deficiency and insufficiency in recent years. Low vitamin D levels confer increased an risk of abnormal bone mineralization, and are linked to poor bone health in epilepsy patients. However, vitamin D is not the only determinant of bone health in children with epilepsy. Anticonvulsant medications, in addition to features and comorbidities of epilepsy and coexisting neurologic diseases, are important factors in this complex topic. We review the basic metabolism of vitamin D in terms of bone health among children with epilepsy. We also discuss the literature regarding vitamin D and bone mineral density in this population. Finally, we suggest algorithms for screening and treating vitamin D insufficiency in these patients. [Copyright &y& Elsevier]

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. [ABSTRACT FROM AUTHOR]

We conducted an online survey of elementary school teachers in Washtenaw County, Michigan, regarding their confidence in their knowledge of epilepsy and their preferred media or sources of information about epilepsy. Eighty-three teachers (9.3%) responded. One quarter expressed a lack of confidence in their ability to teach students with epilepsy or to respond appropriately to a seizure. Teachers most frequently (68%) cited the Internet as their primary source of information about epilepsy, with the school nurse and parents/guardians also frequently mentioned (55% and 48%, respectively). In contrast, most respondents prefer that their information come from the school nurse (74%) or a physician (73%), while only 25% cited the Internet as a preferred source. Teachers most frequently indicated EpilepsyFoundation.org (70.5%) as a trusted source of information. Future collaborative education efforts between school nurses and physicians, especially through use of the Internet, could improve teachers’ knowledge of epilepsy. [ABSTRACT FROM AUTHOR]

Abstract: Bronchial artery embolization with microspheres constitutes an effective, safe procedure for controlling hemoptysis. A 17-year-old girl with cystic fibrosis developed hemoptysis and underwent bilateral bronchial artery embolization with 300-500 μm and 500-700 μm microsphere particles. Afterward, she was delirious and complained of headache. On initial examination, she manifested altered mental status and diffuse hyperreflexia. Her left fifth digit was painful and cyanotic. Neuroimaging demonstrated multiple embolic infarcts in the cerebellum, thalamus, and cerebral hemispheres. An echocardiogram produced normal results. An evaluation of her thrombophilia revealed heterozygosity for a prothrombin 20210A mutation. Her functional neurologic recovery was complete. To our knowledge, this is the first pediatric case of cerebral and systemic embolism after bronchial artery embolization. Although this complication is not predictable, it should be suspected in patients with underlying chronic lung disease who develop acute neurologic signs after bronchial artery embolization, because these patients are prone to anomalous arterial-arterial shunt formation. [Copyright &y& Elsevier]

This cross-sectional study was designed to determine the prevalence of, and risk factors for, vitamin D insufficiency among children treated for epilepsy in a general pediatric neurology clinic. Included were 78 children with epilepsy, aged 3-17 years, treated by the authors between September 2008 and March 2009. Vitamin D levels and relevant risk factors were evaluated using multiple logistic regression. Of the 78 children, 41% were male and 81% were of European origin; the mean age was 11.64 ± 4.37 years. 25-hydroxyvitamin D levels of <20 ng/mL were observed in 25% of the children and levels considered to be normal (>32 ng/mL) were observed in only 25%. Girls and children with elevated body mass index were at increased risk for low 25-hydroxyvitamin D. The odds ratio for low 25-hydroxyvitamin D was 4.07 for girls versus boys, with a 95% confidence interval of 1.18-13.97; for each 1-unit increase in body mass index, the odds ratio was 1.179, with a 95% confidence interval of 1.047-1.329. Use of newer antiepileptic drugs was not associated with altered risk, compared with older enzyme-inducing drugs. Vitamin D insufficiency was highly prevalent in this unselected population of children with epilepsy. Female sex and increased body mass index were significant risk factors for low vitamin D levels, but antiepileptic drug regimen was not. [Copyright &y& Elsevier]

Circumstances of the COVID-19 pandemic have mandated a change to standard management of infantile spasms. On April 6, 2020, the Child Neurology Society issued an online statement of immediate recommendations to streamline diagnosis and treatment of infantile spasms with utilization of telemedicine, outpatient studies, and selection of first-line oral therapies as initial treatment. The rationale for the recommendations and specific guidance including follow-up assessment are provided in this manuscript. These recommendations are indicated as enduring if intended to outlast the pandemic, and limited if intended only for the pandemic health care crisis but may be applicable to future disruptions of health care delivery. [ABSTRACT FROM AUTHOR]

In January 2019, a new plant‐derived purified cannabidiol preparation, approved by the US Food and Drug Administration, became commercially available for patients ≥2 years old with Lennox‐Gastaut syndrome or Dravet syndrome. Among our patients who were prescribed the new cannabidiol formulation, we observed several cases of thrombocytopenia and therefore embarked on this study. We conducted a single‐center systematic chart review of all pediatric patients (<21 years old) who were prescribed cannabidiol from January to August 2019. We evaluated salient features of the patients' epilepsy syndrome, age, concurrent medications, and surveillance laboratory results before and after cannabidiol initiation. Among 87 patients, nine (10%) developed thrombocytopenia (platelet nadir range = 17 000‐108 000) following initiation of cannabidiol. Each of these nine children was on combination therapy of cannabidiol with valproic acid. Whereas no children on cannabidiol without valproic acid (0/57) developed thrombocytopenia, nine of 23 treated with combination valproic acid and cannabidiol developed platelets < 110 000/µL (P <.0001). We report a novel and clinically important side effect of thrombocytopenia in one‐third of patients treated concurrently with cannabidiol and valproic acid. If this finding is confirmed, clinicians should perform close monitoring for thrombocytopenia when adding cannabidiol to a regimen that includes valproic acid. [ABSTRACT FROM AUTHOR]

Objectives This study measures the prevalence of risk factors among pregnant women and young children aged 12-24 months in a rural community in West Bengal, India. Methods Community health workers (CHWs) enrolled women and children into this 2015 cross-sectional study. Pregnant women were evaluated for underweight, anemia, and abnormal blood pressure. Children were evaluated for underweight, abnormal head and upper arm circumferences, and low scores from the Ages and Stages Questionnaire (ASQ). Data were collected on smartphones and tablets or by paper. Results More than half of the 279 women (59.9%) had a risk factor during pregnancy: 48.7% were anemic, 35.1% had low blood pressure, and 7.5% were underweight. Among the 366 children, 59.3% had a risk factor, including 24.0% with low ASQ scores and 49.7% who had abnormal anthropometric measures. Conclusions for Practice Vulnerable populations, such as pregnant women and young children, needed a greater connection to doctors in this rural community. This study demonstrated the feasibility of CHWs to listen to health concerns and connect underserved populations with health care services. [ABSTRACT FROM AUTHOR]

Crisis standards of care" are guidelines to help health care providers deliver the best possible medical care when resources are acutely limited, such as by war, natural disaster, or public health catastrophe. Traditionally, care involves an urgent inpatient evaluation to coordinate video-electroencephalogram (EEG) monitoring, imaging, laboratory studies, and initiation of treatment. The exigency of the current public health crisis demands a fast, effective pivot in how we manage our most vulnerable patients, including a shift to an outpatient-based protocol for both diagnosis and treatment. [Extracted from the article]

Background: Community health workers (CHWs) have been placed in many rural areas in India to increase villagers’ connections to basic preventive health care. In this study, we describe how pregnant women and mothers of young children react when CHWs inform them that they, or their child, are at high risk of pregnancy-related complications or early childhood developmental delays, and further screening and health care from a physician is recommended. Methods: In this longitudinal study in rural villages in West Bengal, India, pregnant mothers, as well as mothers of children aged 12–24 months, were screened for high risk complications. They were re-contacted and asked questions regarding how and to what extent did visits by the CHWs improve their household’s overall health behavior, along with details about what additional care, if any, they sought. These responses are presented by different demographic and medical characteristics. Results: Of the 231 pregnant women, all said they had sought additional care in response to the CHW visit, and all stated that feedback from the CHW resulted in improvement to their health behaviors. Most (90%) pregnant women gave birth at an institution. Among the 213 mothers of young children who were followed up, all sought additional care in response to the CHW’s visit. Most (67%) mentioned that they had a significant improvement in their health behaviors following feedback from the CHW, and the rest stated that they had some improvement. Conclusions: With the proper training, CHWs can be partners in health care to improve the health of vulnerable populations, not only in rural areas of India, but also in other developing countries. CHWs can promote positive health outcomes in their villages of residence. [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]

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. [ABSTRACT FROM AUTHOR]

Background: To assess and compare resident and practicing child neurologists' attitudes regarding recruitment and residency training in child neurology.Methods: A joint task force of the American Academy of Pediatrics and the Child Neurology Society conducted an electronic survey of child neurology residents (n = 305), practicing child neurologists (n = 1290), and neurodevelopmental disabilities specialists (n = 30) in 2015. Descriptive and multivariate analyses were performed.Results: Response rates were 32% for residents (n = 97; 36% male; 65% Caucasian) and 40% for practitioners (n = 523; 63% male; 80% Caucasian; 30% lifetime certification). Regarding recruitment, 70% (n = 372) attributed difficulties recruiting medical students to insufficient early exposure. Although 68% (n = 364) reported that their medical school required a neurology clerkship, just 28% (n = 152) reported a child neurology component. Regarding residency curriculum, respondents supported increased training emphasis for genetics, neurodevelopmental disabilities, and multiple other subspecialty areas. Major changes in board certification requirements were supported, with 73% (n = 363) favoring reduced adult neurology training (strongest predictors: fewer years since medical school P = 0.003; and among practicing child neurologists, working more half-day clinics per week P = 0.005). Furthermore, 58% (n = 289) favored an option to reduce total training to 4 years, with 1 year of general pediatrics. Eighty-two percent (n = 448) would definitely or probably choose child neurology again.Conclusions: These findings provide support for recruitment efforts emphasizing early exposure of medical students to child neurology. Increased subspecialty exposure and an option for major changes in board certification requirements are favored by a significant number of respondents. [ABSTRACT FROM AUTHOR]

Objective Infantile spasms ( IS) represent a severe epileptic encephalopathy presenting in the first 2 years of life. Recommended first-line therapies (hormonal therapy or vigabatrin) often fail. We evaluated response to second treatment for IS in children in whom the initial therapy failed to produce both clinical remission and electrographic resolution of hypsarhythmia and whether time to treatment was related to outcome. Methods The National Infantile Spasms Consortium established a multicenter, prospective database enrolling infants with new diagnosis of IS. Children were considered nonresponders to first treatment if there was no clinical remission or persistence of hypsarhythmia. Treatment was evaluated as hormonal therapy (adrenocorticotropic hormone [ ACTH] or oral corticosteroids), vigabatrin, or 'other.' Standard treatments (hormonal and vigabatrin) were compared to all other nonstandard treatments. We compared response rates using chi-square tests and multivariable logistic regression models. Results One hundred eighteen infants were included from 19 centers. Overall response rate to a second treatment was 37% (n = 44). Children who received standard medications with differing mechanisms for first and second treatment had higher response rates than other sequences (27/49 [55%] vs. 17/69 [25%], p < 0.001). Children receiving first treatment within 4 weeks of IS onset had a higher response rate to second treatment than those initially treated later (36/82 [44%] vs. 8/34 [24%], p = 0.040). Significance Greater than one third of children with IS will respond to a second medication. Choosing a standard medication ( ACTH, oral corticosteroids, or vigabatrin) that has a different mechanism of action appears to be more effective. Rapid initial treatment increases the likelihood of response to the second treatment. [ABSTRACT FROM AUTHOR]

Objective: Infantile spasms are seizures associated with a severe epileptic encephalopathy presenting in the first 2 years of life, and optimal treatment continues to be debated. This study evaluates early and sustained response to initial treatments and addresses both clinical remission and electrographic resolution of hypsarrhythmia. Secondarily, it assesses whether response to treatment differs by etiology or developmental status.Methods: The National Infantile Spasms Consortium established a multicenter, prospective database enrolling infants with new diagnosis of infantile spasms. Children were considered responders if there was clinical remission and resolution of hypsarrhythmia that was sustained at 3 months after first treatment initiation. Standard treatments of adrenocorticotropic hormone (ACTH), oral corticosteroids, and vigabatrin were considered individually, and all other nonstandard therapies were analyzed collectively. Developmental status and etiology were assessed. We compared response rates by treatment group using chi-square tests and multivariate logistic regression models.Results: Two hundred thirty infants were enrolled from 22 centers. Overall, 46% of children receiving standard therapy responded, compared to only 9% who responded to nonstandard therapy (p < 0.001). Fifty-five percent of infants receiving ACTH as initial treatment responded, compared to 39% for oral corticosteroids, 36% for vigabatrin, and 9% for other (p < 0.001). Neither etiology nor development significantly modified the response pattern by treatment group.Interpretation: Response rate varies by treatment choice. Standard therapies should be considered as initial treatment for infantile spasms, including those with impaired development or known structural or genetic/metabolic etiology. ACTH appeared to be more effective than other standard therapies. [ABSTRACT FROM AUTHOR]

Purpose Lennox- Gastaut syndrome ( LGS) is a devastating childhood-onset epilepsy syndrome. The cause is unknown in 25% of cases. Little has been described about the specific clinical or electroencephalography ( EEG) features of LGS of unknown or genetic cause ( LGSu). The Epilepsy Phenome/ Genome Project ( EPGP) aims to characterize LGSu by phenotypic analysis of patients with LGSu and their parents. Methods One hundred thirty-five patients with LGS with no known etiology and their parents were enrolled from 19 EPGP centers in the United States and Australia. Clinical data from medical records, standardized questionnaires, imaging, and EEG were collected with use of online informatics systems developed for EPGP. Key Findings LGSu in the EPGP cohort had a broad range of onset of epilepsy from 1 to 13 years, was male predominant (p < 0.0002), and was associated with normal development prior to seizure onset in 59.2% of patients. Despite the diagnosis, almost half of the adult patients with LGSu completed secondary school. Parents were cognitively normal. All subjects had EEG recordings with generalized epileptiform abnormalities with a spike wave frequency range of 1-5 Hz (median 2 Hz), whereas 8.1% of subjects had EEG studies with a normal posterior dominant rhythm. Almost 12% of patients evolved from West syndrome. Significance LGSu has distinctive characteristics including a broad age range of onset, male predominance, and often normal development prior to the onset of seizures. Cognitive achievements such as completion of secondary school were possible in half of adult patients. Our phenotypic description of LGSu coupled with future genetic studies will advance our understanding of this epilepsy syndrome. [ABSTRACT FROM AUTHOR]

Abstract: Treatment adherence is often suboptimal among adolescents with epilepsy. However, knowledge is lacking regarding factors that affect adherence. Empirical studies and theories of human development suggest that self-management skills, self-efficacy, and sense of control are related to adherence. Eighty-eight adolescents with epilepsy, and their parents, completed standardized measures assessing epilepsy knowledge and expectations, treatment self-management, sense of control, and self-efficacy. Better self-reported parent adherence was correlated with greater epilepsy knowledge/expectations (p<0.001) and more medications (p=0.042). Better self-reported adolescent adherence was correlated with fewer siblings (p=0.003) and higher adolescent epilepsy knowledge/expectations (p<0.001). Greater adolescent epilepsy knowledge/expectations correlated with parent self-reported adherence (p<0.001), Powerful others locus of control (p=0.008), and adolescent/parent discordance regarding epilepsy knowledge/expectations (p<0.001). Interventions that enhance adolescent''s knowledge of epilepsy and their treatment plan, while ensuring that teens and parents are in agreement with regard to epilepsy treatment, might contribute to better adherence. [Copyright &y& Elsevier]

Congenital myopathies are clinically and genetically heterogeneous diseases that typically present in childhood with hypotonia and weakness and are most commonly defined by changes observed in muscle biopsy. Approximately 40% of congenital myopathies are currently genetically unresolved. We identified a family with dominantly inherited congenital myopathy characterized by distal weakness and biopsy changes that included core-like areas and increased internalized nuclei. To identify the causative genetic abnormality in this family, we performed linkage analysis followed by whole-exome capture and next-generation sequencing. A splice-acceptor variant in previously uncharacterized CCDC78 was detected in affected individuals and absent in unaffected family members and > 10,000 controls. This variant alters RNA-transcript processing and results in a 222 bp in-frame insertion. CCDC78 is expressed in skeletal muscle, enriched in the perinuclear region and the triad, and found in intracellular aggregates in patient muscle. Modeling of the CCDC78 mutation in zebrafish resulted in changes mirroring the human disease that included altered motor function and abnormal muscle ultrastructure. Using a combination of linkage analysis, next-generation sequencing, and modeling in the zebrafish, we have identified a CCDC78 mutation associated with a unique myopathy with prominent internal nuclei and atypical cores. [Copyright &y& Elsevier]

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]