Functional seizures in children highlight a gap between ideal care models and real-world practice. Parikh et al. discuss the role of paediatric neurologists in helping families navigate diagnosis and uncertainty when coordinated, multidisciplinary care is hard to access.

SPOUT1/CENP-32 encodes a putative SPOUT RNA methyltransferase previously identified as a mitotic chromosome associated protein. SPOUT1/CENP-32 depletion leads to centrosome detachment from the spindle poles and chromosome misalignment. Aided by gene matching platforms, here we identify 28 individuals with neurodevelopmental delays from 21 families with bi-allelic variants in SPOUT1/CENP-32 detected by exome/genome sequencing. Zebrafish spout1/cenp-32 mutants show reduction in larval head size with concomitant apoptosis likely associated with altered cell cycle progression. In vivo complementation assays in zebrafish indicate that SPOUT1/CENP-32 missense variants identified in humans are pathogenic. Crystal structure analysis of SPOUT1/CENP-32 reveals that most disease-associated missense variants are located within the catalytic domain. Additionally, SPOUT1/CENP-32 recurrent missense variants show reduced methyltransferase activity in vitro and compromised centrosome tethering to the spindle poles in human cells. Thus, SPOUT1/CENP-32 pathogenic variants cause an autosomal recessive neurodevelopmental disorder: SpADMiSS ( SPOUT1 Associated Development delay Microcephaly Seizures Short stature) underpinned by mitotic spindle organization defects and consequent chromosome segregation errors.

Background and Objectives:The objective of this study was to improve functional neurologic disorder (FND) education by identifying knowledge gaps among providers who registered for an online course on FND. The field of FND is rapidly evolving with new frameworks for understanding the diagnosis, pathophysiology, and treatment. This leads to the potential for knowledge gaps among clinicians who care for patients with FND. The shift away from terminologies such as "psychogenic" or "conversion" disorders underscores advances in how FND is conceptualized. Yet, gaps in the assimilation of this new knowledge among medical providers have been consistently found in surveys. This study is a qualitative analysis, allowing participants to state their specific knowledge gaps and identify content areas most in need of additional education. Methods:Providers from various disciplines including neurologists and other physicians, psychologists, and physical therapists enrolled in a virtual course containing 9 asynchronous lectures on various FND topics followed by 2 live webinars (fndsociety.org/fnd-education/virtual-education-course). Participants were invited to optionally submit questions for the live webinars to the expert panel about the care of FND in various treatment settings. A qualitative descriptive research design was used, with conventional content analysis applied to identify themes from participant questions. Results:One hundred ninety-one responses were collected from 268 participants over 2 months for a 71% response rate. Participant responses clustered on specific clinical presentations (e.g., functional seizures [FSs]), communication challenges with patients and other providers, inpatient challenges (e.g., when admission might be warranted), and outpatient challenges, such as limited access to multidisciplinary teams. Some participants explicitly stated outdated attitudes about FND. Discussion:Qualitative analysis of the participant responses revealed priority areas of knowledge gaps, indicating potential underexplored avenues for high-impact education on FND. These areas include diagnostic uncertainty, such as the presence of comorbid medical illness, FSs, and tools to help the patient when best practice models are not available. Developing case-based learning to better foster illness scripts and modules on psychoeducation and psychological treatments for the nontherapist FND provider would enhance existing educational tools to allow providers in every setting to better care for patients with FND.

OBJECTIVES:Pediatric hospitalists have increasingly been relied on to care for hospitalized patients. While hospitalist care models have shown many benefits, studies examining the transition from subspecialist to hospitalist-led teams are lacking. This study aimed to monitor the impact of transitioning an inpatient pediatric neurology service to a hospitalist model on several key outcome measures, with the hypothesis that these measures would be unaffected by the transition. METHODS:In July 2019, the neurology service at a freestanding pediatric academic center transitioned a hospitalist model. Statistical process control charts tracked patient-level outcomes related to quality, safety, and patient/caregiver experience. A medical education-focused survey was distributed to residents before and after service transition with survey responses analyzed using descriptive statistics. RESULTS:During the 42-month posttransition period, seizure length of stay (LOS) improved from 2.42 to 1.96 days, while headache LOS remained unchanged at 1.44 days. The days between both reported safety events reaching a patient and clinical deterioration events remained stable, although 5 clinical deterioration events were observed in the first 12 months after the transition. Top-box response percentage for posthospitalization survey questions about physicians improved from 70% to 81%. Survey-based medical education evaluations showed no significant changes in resident confidence or neurology knowledge around neurological issues. CONCLUSIONS:Our institution successfully transitioned a pediatric neurology subspecialty inpatient service to a hospitalist-led model while monitoring the effect on quality, safety, patient/caregiver experience, and medical education outcome measures. Studying transitions in care models is necessary to understand their impact and value for pediatric patients.

Functional neurological disorder (FND) in children and adolescents presents distinct challenges and opportunities compared with adult populations. Pediatric FND frequently affects high-achieving youth without significant trauma histories or psychiatric illness, highlighting demographic and etiologic differences that challenge many of the classic psychodynamic assumptions. The developing brain's heightened plasticity may predispose to maladaptive functional patterns, yet also makes recovery particularly attainable when diagnosis and treatment are timely. Positive rule-in signs and clear, developmentally attuned explanations are central to reframing symptoms as real, reversible, and brain-based. Evidence from the retraining and control therapy randomized trial and recent telehealth cohorts demonstrates that multidisciplinary, family- and school-engaged approaches can achieve high remission rates. Adjunctive strategies that target network dynamics and plasticity may further amplify recovery. With coordinated care, pediatric FND is highly reversible, restoring agency, alleviating disability, and giving back decades of ability, opportunity, and thriving identity formation.

Background and Objectives:Child neurology is a specialty with unique challenges in communication. Child neurologists face many complex disorders with a wide array of prognoses and treatments as well as the need to communicate at various developmental levels. Limited literature exists regarding effective communication training during child neurology residency. Our aim was to evaluate feedback provided to child neurology residents by standardized patients (SPs) and faculty during a communication-focused objective structured clinical examination (OSCE) for common themes and identify which elements of communication feedback are most valuable to the residents. Methods:The child neurology residency at Nationwide Children's Hospital previously developed a set of OSCE cases to assess residents' communication skills. Using a qualitative approach, we used content analysis to identify themes from the feedback residents received from SPs and faculty observers. After themes were identified, we held a focus group with residents to determine which themes contained helpful feedback. Results:Residents found feedback from both SPs and faculty observers to be important, and how information was delivered was identified as the most impactful type of feedback. Residents appreciated positive feedback from SPs and faculty, especially when aimed at reinforcing a specific behavior that was performed well. Feedback that residents identified as particularly helpful, although not commonly provided, was the recognition of a potential unconscious bias in an encounter. Feedback the residents found less useful was discussing the medical specifics of the case. The most frequently provided types of feedback were not necessarily the most helpful feedback for both SP and faculty feedback. Discussion:OSCEs can be an effective tool to provide child neurology residents with immediate feedback on their communication skills with difficult conversations in a safe environment. Residents find value in feedback from both the SPs and faculty observers. Certain elements of feedback are more helpful than others. This knowledge could be used to develop an assessment tool to guide feedback from child neurology-specific communication simulation.

PURPOSE:The best possible outcomes in infantile epileptic spasms syndrome require electroclinical remission; however, determining electrographic remission is not straightforward. Although the determination of hypsarrhythmia has inadequate interrater reliability (IRR), the Burden of AmplitudeS and Epileptiform Discharges (BASED) score has shown promise for the reliable interictal assessment of infantile epileptic spasms syndrome. Our aim was to develop a BASED training program and assess the IRR among learners. We hypothesized moderate or better IRR for the final BASED score and the presence or absence of epileptic encephalopathy (+/-EE). METHODS:Using a web-based application, 31 learners assessed 12 unmarked EEGs (length 1-6 hours) from children with infantile epileptic spasms syndrome. RESULTS:For all readers, the IRR was good for the final BASED score (intraclass correlation coefficient 0.86) and +/-EE (Marginal Multirater Kappa 0.63). For all readers, the IRR was fair to good for all individual BASED score elements. CONCLUSIONS:These findings support the use of our training program to quickly learn the BASED scoring method. The BASED score may be a valuable clinical and research tool. Given that the IRR for the determination of epileptic encephalopathy is not perfect, clinical acumen remains paramount. Additional experience with the BASED scoring technique among learners and advances in collaborative EEG evaluation platforms may improve IRR.

This report summarizes the key findings of a workshop undertaken at the International Child Neurology Congress in 2024 by child neurologists with expertise in training education and invested colleagues. The workshop aimed to explore global issues which have impact on access to child neurology training. The major findings supported a great need for more training programs globally, that consensus is needed for the minimum standards of training, and that training programs can be strengthened via global health partnerships especially with collaborations from regions with more available resources. The group concurred that the phenomena of 'neurophobia' amongst general paediatricians and medical trainees, was a reality, and creates barriers both working with paediatric colleagues, as well as recruiting specialists to the field. Optimal teaching practices for child neurology should include the expansion of learning through global partnerships and virtual educational resources. Measures must be put into place for fledgling training programs, to support colleagues in less resourced settings and to avoid their burn-out. Collegial and collaborative work is essential to support the future of child neurology across the globe, both to reach the current capacity needs but also to meet the necessary growth in the field.

To evaluate feedback provided to child neurology residents by standardized patients (SPs) during a communication-focused OSCE for common themes and identify which elements of communication feedback are most valuable to the residents.

BACKGROUND AND OBJECTIVES:The purpose of this study was to develop national consensus based on expert opinion on the optimal outpatient care model of pediatric psychogenic nonepileptic seizures (PNES). METHODS:A core working group (CWG) within the PNES special interest group of the Pediatric Epilepsy Research Consortium was established. The CWG developed a rigorous scoring rubric to select experts in pediatric PNES within the United States of America and a three-round Delphi study was conducted to assess consensus on key components of the management of pediatric PNES in the outpatient setting. RESULTS:Eighteen experts representing neurology, psychology, psychiatry, social work and nursing participated in the study. Strong consensus was reached that the multidisciplinary clinic (MDC) model is the gold standard for the outpatient management of pediatric PNES. Consensus was obtained that a neurologist, psychologist and social worker are essential members of the MDC and in the setting of unlimited resources, psychiatry and nursing are also recommended. Further consensus was established on the roles of specific personnel, structure of the clinic, billing practices, trainee inclusion, patient inclusion and exclusion, and end of visit management. While consensus was reached that a new term should be developed for this diagnosis, consensus was not reached on the ideal term. DISCUSSION:Expert consensus was established for the multidisciplinary management of pediatric PNES in the outpatient setting. Specific recommendations were provided that can facilitate the development and implementation of MDCs in other institutions. Further prospective studies are warranted to validate this practice model.

OBJECTIVES:A seizure action plan (SAP) is a powerful tool that provides actionable information for caregivers during seizures. Guidelines have expressed the need for individualized SAPs. Our quality improvement team aimed to increase implementation of an SAP within a pediatric tertiary center, initially among epilepsy providers and expanded to all neurology providers. METHODS:Process changes were implemented using Plan-Do-Study-Act cycles and data were evaluated monthly using control charts. The team focused on tracking patients who received SAPs and identified opportunities for improvement, including reminders within the electronic medical record, and standardizing clinic processes. A secondary analysis was performed to trend emergency department (ED) use among our patient population. RESULTS:The SAP utilization rate among epilepsy providers increased from a baseline of 39% to 78% by December 2019 and reached the goal of 85% by June 2020, with a further increase to 92% by February 2022 and maintained. The SAP utilization rate among general neurology providers increased from 43% in 2018 to 85% by July 2020, and further increased to 93% by February 2022 and maintained. ED visits of established patients with epilepsy decreased from a baseline of 10.2 per 1000 to 7.5 per 1000. CONCLUSIONS:Quality improvement methodologies increased the utilization of a standardized SAP within neurology outpatient care centers. The SAP is a simplified tool that allows patients and providers to navigate a complex health care system. The utility of an SAP may potentially extend to minimizing unnecessary ED visits.

SPOUT1/CENP-32 encodes a putative SPOUT RNA methyltransferase previously identified as a mitotic chromosome associated protein. SPOUT1/CENP-32 depletion leads to centrosome detachment from the spindle poles and chromosome misalignment. Aided by gene matching platforms, we identified 24 individuals with neurodevelopmental delays from 18 families with bi-allelic variants in SPOUT1/CENP-32 detected by exome/genome sequencing. Zebrafish spout1/cenp-32 mutants showed reduction in larval head size with concomitant apoptosis likely associated with altered cell cycle progression. In vivo complementation assays in zebrafish indicated that SPOUT1/CENP-32 missense variants identified in humans are pathogenic. Crystal structure analysis of SPOUT1/CENP-32 revealed that most disease-associated missense variants mapped to the catalytic domain. Additionally, SPOUT1/CENP-32 recurrent missense variants had reduced methyltransferase activity in vitro and compromised centrosome tethering to the spindle poles in human cells. Thus, SPOUT1/CENP-32 pathogenic variants cause an autosomal recessive neurodevelopmental disorder: SpADMiSS (SPOUT1 Associated Development delay Microcephaly Seizures Short stature) underpinned by mitotic spindle organization defects and consequent chromosome segregation errors.

This report summarizes the key findings of a workshop undertaken at the International Child Neurology Congress in 2024 by child neurologists with expertise in training education and invested colleagues. The workshop aimed to explore global issues which have impact on access to child neurology training. The major findings supported a great need for more training programs globally, that consensus is needed for the minimum standards of training, and that training programs can be strengthened via global health partnerships especially with collaborations from regions with more available resources. The group concurred that the phenomena of ‘neurophobia’ amongst general paediatricians and medical trainees, was a reality, and creates barriers both working with paediatric colleagues, as well as recruiting specialists to the field. Optimal teaching practices for child neurology should include the expansion of learning through global partnerships and virtual educational resources. Measures must be put into place for fledgling training programs, to support colleagues in less resourced settings and to avoid their burn-out. Collegial and collaborative work is essential to support the future of child neurology across the globe, both to reach the current capacity needs but also to meet the necessary growth in the field.

BACKGROUND:Psychogenic nonepileptic seizures (PNES) are a common type of functional neurological disorder in which patients experience seizurelike episodes. Health disparities based on race and socioeconomics, documented in children with epilepsy and adults with PNES, have not been reported in children and adolescents with PNES. We hypothesize that disparities exist in this population, which impact overall care and therefore influence outcomes. METHODS:We retrospectively analyzed youth referred to our multidisciplinary clinic from 2018 to 2020. All patient charts were screened by social work before the visit to identify potential barriers to care, and a nurse conducted follow-up calls. Patients' race was identified from the electronic health record and compared with several variables. Outcomes were collected via phone follow-up. Descriptive statistics were produced, and comparisons between white patients and patients of other races were completed using Fisher exact tests and multivariable logistic regressions. RESULTS:During the study period, 237 patients were eligible for the analysis. Sixty-eight patients (29%) identified as a race other than white. Only 60%, 56%, and 40% of the cohort were reached for follow-up at one, three, and 12 months, respectively. In general, outcomes were similar between racial groups; however, we found that patients of nonwhite race were more likely to receive support from social work due to barriers identified in screening (P = 0.045). CONCLUSIONS:Health disparities based on race may exist in youth with PNES. A multidisciplinary clinic including social work may help mitigate barriers leading to more equitable care and similar outcomes for white and nonwhite youth with PNES.

Introduction:Electrical status epilepticus in sleep (ESES) is an electrographic pattern in which interictal epileptiform activity is augmented by the transition to sleep, with non-rapid eye movement sleep state characterized by near-continuous lateralized or bilateral epileptiform discharges. The aim of this study was to measure the reliability of the spike-wave index (SWI) of the first 100 seconds of sleep as a tool for the diagnosis of ESES.Methods:One hundred forty studies from 60 unique patients met the inclusion. Two neurophysiologists calculated the SWI of the first 100 seconds of spontaneous stage II non-rapid eye movement sleep. This was compared with the SWI of the first 5 minutes of non-rapid eye movement sleep and the cumulative SWI of three 5-minute bins of sleep. Agreement between the three SWI methods were analyzed using several statistical tools and methods.Results:Using an SWI of 50% as a diagnostic cutoff, 57% of records had a diagnosis of ESES based on the first 100 seconds of sleep. Fifty-four percent of records had a diagnosis of ESES based on the method of using the SWI of three bins. This resulted in a diagnostic accuracy of 92%, sensitivity of 96%, and specificity of 88%. Positive predictive values of children diagnosed with ESES using the first 100 seconds of sleep, compared with 3 combined bins, was determined to be 90% and a negative predictive value was determined to be 95%.Conclusions:This analysis confirmed the diagnostic accuracy of using the SWI of the first 100 seconds of sleep and the cumulative total of three 5-minute bins.

Objective: To assess the learning needs of pediatric neurology resident trainees and program directors (PD) on the education of psychogenic nonepileptic seizures (PNES) during training. Background: PNES proves difficult to differentiate from epileptic seizures (ES) even for neurologists who see these conditions frequently, given overlapping semiologic findings between the two diagnoses. Previous studies have shown trainees, including neurology trainees, are not very accurate in differentiating PNES from ES. Neurologists often find the communication of PNES difficult. Despite these challenges, most programs do not have a formal curriculum for teaching PNES and there are no ABPN standards for residency curricula in this topic. Design/Methods: Two unique surveys were designed, one for child neurology trainees and one for PDs. Questions were designed to assess trainees' abilities, current education received, and desired teaching. Similarly, PDs' level of confidence in trainee management of PNES was assessed, as well as specific preferences for a standardized curriculum. Results: Sixty-five trainees out of approximately 202 and 21 PDs and associate PDs have responded to the survey. About one-third of trainees report neutral to low levels of confidence and 36.9% report neutral to low levels of knowledge in caring for PNES patients. Trainees reported that directing PNES patients to appropriate management was the most challenging aspect of care, followed by communicating the diagnosis, with 60.0% and 46.1% reporting difficulty, respectively. Trainees report preferring to learn about this topic through reading material and simulation. One-fifth of PDs feel their current PNES education is not sufficient and 52.4% of PDs would incorporate a standardized curriculum, with remaining PDs reporting willingness depending on the required time. Conclusions: Areas of needed training and desired teaching format were identified based on trainee responses. PDs desire a standardized curriculum and would incorporate one into their programs. Findings of this study will be utilized to create a national curriculum. Disclosure: The institution of Dr. Albert has received research support from Nationwide Children's Hospital, Division of Neurology, Internal Research Grant. Dr. Freedman has nothing to disclose. Dr. Talai has nothing to disclose.