- Associated Episodic and Persistent Ataxia with Cerebellar Atrophy: A Case Report

SCN2A , a gene that codes for a sodium channel highly expressed in the cerebellum, has been linked to a heterogeneous phenotype, including episodic ataxia (EA) and epilepsy, among other symptoms 1 . Given the rarity of SCN2A -associated EA and its recent description, it is important the genotype-phenotype relationship of SCN2A -associated EA be better defined for prognosis and optimizing future management. Thus, we describe a 2-year-old boy with a SCN2A variant causing an initial prolonged episode of profound ataxia lasting 4 months, cerebellar atrophy, and persistent mild ataxia with episodic exacerbations. Due to the patient’s lack of early epilepsy, prolonged initial episode of ataxia, and cerebellar atrophy, this case broadens the scope of the SCN2A variant phenotype. SCN2A should be considered as a cause of early onset ataxia in children with targeted testing or as part of Whole Exome Sequencing (WES) in patients with new onset persistent or EA with or without seizures

Local Culture and Community Through a Digital Lens: Viewpoint on Designing and Implementing a Virtual Second Look Event for Residency Applicants

BackgroundThe COVID-19 pandemic altered how residency interviews occur. Despite 2 years of web-based interviews, these are still perceived as inferior to in-person experiences. Showcasing a program and location is critical for recruitment; however, it is difficult to highlight the program’s location and community digitally. This article presents the authors’ viewpoints on designing and implementing a virtual second look for residency applicants. ObjectiveOur objective was to host a web-based event to feature the benefits of living in Winston-Salem, North Carolina, for residency applicants, enhance recruitment efforts, and ensure a successful residency match. The goal was to cover topics that interested all applicants, highlight how Winston-Salem is a special place to live, involve current residents, and engage community members. MethodsThree programs–child neurology, neurology, and family medicine were chosen for a pilot virtual second look. All residency program directors’ were asked to recommend community contacts and help identify residents and faculty who may serve as content experts on one of the topics in the panel discussions. A total of 24 community leaders from restaurants, venues, schools, and businesses were contacted, and 18 agreed to participate. The panel discussions included living in and raising a family in Winston-Salem, experiencing Winston-Salem arts and music, where to eat and drink like a local, and enjoying sports and outdoors in the area. The 2-hour event was hosted on Zoom. Postevent feedback assessments were automatically sent to each registrant through Research Electronic Data Capture (REDCap). This study was deemed exempt from Wake Forest University Health Sciences institutional review board review (IRB00088703). ResultsThere were 51 registrants for the event, and 28 of 48 registrants provided postevent feedback, which was positive. The authors found in the MATCH residency results that 2 of 2 child neurology positions, 4 of 6 adult neurology positions, and 1 of 10 family medicine positions attended our second look event. One adult neurology resident who did not participate was an internal candidate. All respondents agreed or strongly agreed that the session was valuable, well organized, and met their expectations or goals. Furthermore, all respondents gained new information during this web-based event not obtained during their interview day. ConclusionsThe virtual second look event for residency attendees featured the benefits of living in Winston-Salem, and the perspectives of current residents. Feedback from the session was overall positive; however, a top desire would be devoting more time for the applicants to ask questions directly to the community leaders and our resident trainees. This program could be reproducible by other institutions. It could be broadened to a graduate medical education–wide virtual second look event where all medical and surgical programs could opt to participate, facilitating an equitable opportunity for prospective applicants

CARE4Kids Study: Endophenotypes of Persistent Post-Concussive Symptoms in Adolescents: Study Rationale and Protocol.

Treatment of youth concussion during the acute phase continues to evolve, and this has led to the emergence of guidelines to direct care. While symptoms after concussion typically resolve in 14-28 days, a portion (∼20%) of adolescents endorse persistent post-concussive symptoms (PPCS) beyond normal resolution. This report outlines a study implemented in response to the National Institute of Neurological Diseases and Stroke call for the development and initial clinical validation of objective biological measures to predict risk of PPCS in adolescents. We describe our plans for recruitment of a Development cohort of 11- to 17-year-old youth with concussion, and collection of autonomic, neurocognitive, biofluid, and imaging biomarkers. The most promising of these measures will then be validated in a separate Validation cohort of youth with concussion, and a final, clinically useful algorithm will be developed and disseminated. Upon completion of this study, we will have generated a battery of measures predictive of high risk for PPCS, which will allow for identification and testing of interventions to prevent PPCS in the most high-risk youth

The CARE4Kids Study: Endophenotypes of Persistent Post-Concussive Symptoms in Adolescents - Study Rationale and Protocol

Treatment of youth concussion during the acute phase continues to evolve, and this has led to the emergence of guidelines to direct care. While symptoms after concussion typically resolve in 14-28 days, a portion (~20%) of adolescents endorse persistent post-concussive symptoms (PPCS) beyond normal resolution. This report outlines a study implemented in response to the National Institute of Neurological Diseases and Stroke call for the development and initial clinical validation of objective biological measures to predict risk of PPCS in adolescents. We describe our plans for recruitment of a Development cohort of 11-17-year-old youth with concussion, and collection of autonomic, neurocognitive, biofluid, and imaging biomarkers. The most promising of these measures will then be validated in a separate Validation cohort of youth with concussion and a final, clinically useful algorithm will be developed and disseminated. Upon completion of this study, we will have generated a battery of measures predictive of high risk for PPCS, which will allow for identification and testing of interventions to prevent PPCS in the most high-risk youth

Clinical trials of disease-modifying agents in pediatric MS: Opportunities, challenges, and recommendations from the IPMSSG.

OBJECTIVE: The impetus for this consensus discussion was to recommend clinical trial designs that can deliver high-quality data for effective therapies for pediatric patients, in a reasonable timeframe, with a key focus on short- and long-term safety. METHODS: The International Pediatric Multiple Sclerosis Study Group convened a meeting of experts to review the advances in the understanding of pediatric-onset multiple sclerosis (MS) and the advent of clinical trials for this population. RESULTS: In the last few years, convincing evidence has emerged that the biological processes involved in MS are largely shared across the age span. As such, treatments proven efficacious for the care of adults with MS have a biological rationale for use in pediatric MS given the relapsing-remitting course at onset and high relapse frequency. There are also ethical considerations on conducting clinical trials in this age group including the use of placebo owing to highly active disease. It is imperative to reconsider study design and implementation based on what information is needed. Are studies needed for efficacy or should safety be the primary goal? Further, there have been major recruitment challenges in recently completed and ongoing pediatric MS trials. Phase 3 trials for every newly approved therapy for adult MS in the pediatric MS population are simply not feasible. CONCLUSIONS: A primary goal is to ensure high-quality evidence-based treatment for children and adolescents with MS, which will improve our understanding of the safety of these agents and remove regulatory or insurance-based limitations in access to treatment