Health and Healthcare Disparities in Pediatric Epilepsy in the United States: A Scoping Review.

OBJECTIVES: Health disparities impact epilepsy care in children. Previous efforts to summarize data in this population have been limited. This study sought to understand how this information exists in the literature and identify gaps in knowledge. METHODS: A scoping review of peer-reviewed articles and gray literature was conducted using PRISMA guidelines. Disparity populations (e.g., Sex, Race/Ethnicity, Socioeconomic Status) and disparity outcomes (e.g., Quality of Life (QOL)/Psychological, Utilization, Mortality/Sudden Unexpected Death in Epilepsy) were identified. A finding was defined as a single result from a discrete statistical analysis of a specific clinical outcome by disparity population. Data extraction identified where this information existed in the literature and how it was reported. RESULTS: A total of 307 publications revealed 769 unique disparity/equity findings. Disparity populations were unequally represented (p < 0.0001). Sex and Race/Ethnicity had the most findings while Language/Immigration had the fewest. Nearly a quarter of findings (23%) addressed QOL/Psychological outcomes. The highest percentages of disparities were found in the Utilization, Mortality/SUDEP, and Economic categories. Of the 204 publications reporting disparity findings, fewer than half actually intended to investigate disparities as one of their original objectives. Of the disparity findings identified in peer-reviewed articles, a third were not mentioned in the abstract and 20% were not addressed in the discussion. INTERPRETATION: A comprehensive scoping review of health disparities in pediatric epilepsy found that specific disparity populations like Sex and Race/Ethnicity were robustly explored, while Language/Immigration was under-represented, despite a high rate of disparities. Health-related outcome categories were also unequally investigated. Disparity findings were often difficult to access within publications. ANN NEUROL 2024;95:733-742.

Health technology assessment for oral health in the past decade: a scoping review.

BACKGROUND: Health technology assessment (HTA) is the systematic evaluation of various properties and effects of a health technology. HTA can serve as a bridge between the world of knowledge and that of decision making, offering decision makers the best summary of scientific evidence. Scoping HTA reports in the context of dentistry can help researchers identify grey areas; help practitioners make evidence-based decisions and further initiate better policy making. AIM: To provide an overview on HTAs pertaining to oral health and dentistry in the past decade, map the extension and scope of the methodological practices, key findings, and limitations. METHODOLOGY: A scoping review was conducted using the Joanna Briggs Institute framework. A comprehensive search for HTA reports was done through the International Network of Agencies for Health Technology Assessment Database from January 2010 to December 2020. Consecutively, electronic databases (PubMed and Google Scholar) were searched. Finally, thirty-six reports were included in this review and analyzed. RESULTS: A total of 709 articles were initially identified, of which thirty-six met the inclusion criteria. Reviewed HTAs focused on various specialties of dentistry worldwide. Maximum number of reports (N = 5) were related to "prosthodontics and dental implants" and technologies related to preventive dentistry were most commonly assessed (N = 4). CONCLUSION: Functional, appropriate, and evidence-based information provided through HTA pertaining to oral health on a regular basis will enable decision makers to have enough data to make decisions on the future use of new technology, modify existing policies, accelerate its translation into practice, and ensure provision of robust dental healthcare services.

Health Disparities in Pediatric Epilepsy: Methods and Lessons Learned.

Epilepsy affects 1% of youth and is associated with neurocognitive and psychosocial comorbidities, increased risk of mortality, and poor health-related outcomes. Health disparities in children and youth with epilepsy (CYE) have been understudied. A Special Interest Group (SIG) within the Pediatric Epilepsy Research Consortium is conducting a scoping review to systematically assess the literature and highlight the gaps in access to clinical care and management of pediatric epilepsy. The methodology for this review is presented. In conducting a peer-reviewed assessment of the scope of health disparities in pediatric epilepsy, we learned that developing the methodology for and conducting a comprehensive scoping review with multiple contributors resulted in a time-intensive process. While there is an evidence to suggest that health disparities do exist in CYE, very few studies have focused on these disparities. Disparity results are often not included in key elements of articles, lending them to be underemphasized and underrecognized. Preliminary conclusions inform several important research considerations.

Infodemiology for oral health and disease: A scoping review.

INTRODUCTION: Increasing affordability, accessibility and penetration of internet services worldwide, have substantially changed the ways of gathering health-related information. This has led to the origin of concept infodemiology that allows the information to be collected and analysed in near real time. Globally, oral diseases affect nearly 3.5 billion people; thus, volume and profile of oral health searches would help in understanding specific community dental needs and formulation of pertinent oral health strategies. AIM: To review the published literature on infodemiological aspects of oral health and disease. METHODOLOGY: This scoping review was conducted in accordance with PRISMA-ScR guidelines. Electronic search engines (Google Scholar) and databases (PubMed, Web of science, Scopus) were searched from 2002 onwards. RESULTS: Thirty-eight articles were included in this review. The infodemiological studies for oral health and disease were mainly used in two domains. Out of 38 articles, 24 accessed the quality of available online information and 15 studied online oral health-related information seeking behaviour. CONCLUSION: The most commonly searched oral diseases were toothache, oral cancer, dental caries, periodontal disease, oral maxillofacial surgical procedures and paediatric oral diseases. Most of the studies belonged to developed countries and Google was the most researched search engine.

Deep learning applied to whole-brain connectome to determine seizure control after epilepsy surgery.

OBJECTIVE: We evaluated whether deep learning applied to whole-brain presurgical structural connectomes could be used to predict postoperative seizure outcome more accurately than inference from clinical variables in patients with mesial temporal lobe epilepsy (TLE). METHODS: Fifty patients with unilateral TLE were classified either as having persistent disabling seizures (SZ) or becoming seizure-free (SZF) at least 1 year after epilepsy surgery. Their presurgical structural connectomes were reconstructed from whole-brain diffusion tensor imaging. A deep network was trained based on connectome data to classify seizure outcome using 5-fold cross-validation. RESULTS: Classification accuracy of our trained neural network showed positive predictive value (PPV; seizure freedom) of 88 ± 7% and mean negative predictive value (NPV; seizure refractoriness) of 79 ± 8%. Conversely, a classification model based on clinical variables alone yielded <50% accuracy. The specific features that contributed to high accuracy classification of the neural network were located not only in the ipsilateral temporal and extratemporal regions, but also in the contralateral hemisphere. SIGNIFICANCE: Deep learning demonstrated to be a powerful statistical approach capable of isolating abnormal individualized patterns from complex datasets to provide a highly accurate prediction of seizure outcomes after surgery. Features involved in this predictive model were both ipsilateral and contralateral to the clinical foci and spanned across limbic and extralimbic networks.

Treating Immune-Related Epilepsy.

PURPOSE OF REVIEW: This review explores different treatment modalities for immune-mediated epilepsy, including epilepsy caused by autoantibodies as well as epilepsy in the context of systemic autoimmune disease. RECENT FINDINGS: Autoimmune epilepsy is an increasingly recognized entity. Conventional treatments for epilepsy, such as antiseizure medications and epilepsy surgery, are less successful in treating epilepsy caused by autoimmune disease. Immunomodulatory therapies such as corticosteroids, intravenous immunoglobulin, and plasma exchange are generally more successful in treating immune-mediated epilepsy than conventional epilepsy therapies. Autoimmune epilepsy should be considered as a possible etiology for patients with frequent seizures of unknown etiology. The response to immunotherapies is often promising, particularly in patients with antibodies to neuronal cell surface antigens.

Simultaneous Infantile Spasms and Focal Seizures: A Rarely Reported Combined Seizure Phenomenon on Video Electroencephalogram (VEEG).

Focal seizures (FS) have previously been described before or after infantile spasm (IS) clusters, but FS occurring simultaneously with an IS cluster has been rarely reported in the EEG literature. We present three cases where focal seizures (FS) occurred concurrently during an infantile spasm (IS) cluster on VEEG. On VEEG, onset of IS cluster preceded FS in all three patients; however, patient three was diagnosed with FS prior to the onset of IS. FS duration ranged from 10-90 s and was electrographic-only in two out of the three patients. Unfortunately, the first two patients are now deceased, and for patient two no etiology was ever identified. Currently, patient three is free of spasms as well as seizures but has global developmental delay; no definite etiology has been identified for their presentation. Concurrent FS with IS suggests that the seizure types may be generated in different brain areas with one seizure type potentially triggering the other and is generally reflective of multifocal or diffuse cerebral disease with a poor prognosis as was seen in at least two of our patients. Our three cases of IS where FS occurred concurrently contribute to the limited existing data describing this phenomenon on VEEG.

"Oh My Sleeping Child" Narcolepsy Type 1 in a 22-Month-Old Boy.

Pediatric narcolepsy is a complex disorder with unique diagnostic challenges. It is diagnosed with a combination of clinical presentation, polysomnogram with multiple sleep latency test (PSG with MSLT), and occasionally, hypocretin-1 (orexin) levels in the cerebrospinal fluid (CSF). This report describes a 22-month-old boy experiencing excessive daytime sleepiness (EDS) and frequent falls. The patient was subsequently diagnosed with narcolepsy using hypocretin-1 (orexin) levels. The intent of this report is to establish the utility of using hypocretin-1 (orexin) levels to diagnose narcolepsy type 1 in children who are too young to undergo PSG with MSLT. To our knowledge, there are no reports of narcolepsy in a patient this young. Early recognition and treatment of narcolepsy in children younger than age five may lead to a substantial impact on their cognitive development and minimize potential long- term complications.

Sunflower Syndrome: A Survey of Provider Awareness and Management Preferences.

BACKGROUND: Sunflower syndrome is a rare photosensitive pediatric epilepsy characterized by stereotyped hand-waving in response to bright lights. These stereotyped movements with maintained awareness can be mistaken for a movement disorder. This study assessed neurology providers' diagnostic reasoning, evaluation, and treatment of Sunflower syndrome. METHODS: A 32-question anonymized electronic survey, including a clinical vignette and video of hand-waving in sunlight, was distributed to child neurology providers to assess (1) initial diagnosis and evaluation based on clinical information, (2) updated diagnosis and management after electroencephalography (EEG), and (3) prior experience with Sunflower syndrome. RESULTS: Among 277 viewed surveys, 211 respondents provided information about initial diagnosis and evaluation, 200 about updated diagnosis, 191 about management, and 189 about prior clinical experience. Most providers (135, 64%) suspected seizure, whereas fewer suspected movement disorders (29, 14%) or were unsure of the diagnosis (37, 22%). EEG was recommended by 180 (85%). After EEG, 189 (95%) diagnosed epilepsy, 111 of whom specifically diagnosed Sunflower syndrome. The majority (149, 78%) recommended antiseizure medications (ASMs) and sun avoidance (181, 95%). Only 103 (55%) had managed Sunflower syndrome. Epileptologists and those with prior clinical experience were more likely to suspect a seizure, order an EEG, and offer ASMs than those without prior experience. CONCLUSIONS: Although many providers had not managed Sunflower syndrome, the majority recognized this presentation as concerning for epilepsy. Epilepsy training and prior clinical experience are associated with improved recognition and appropriate treatment. Educational initiatives that increase awareness of Sunflower syndrome may improve patient care.

Assessment of prevalence and distribution of congenital missing teeth among patients visiting tertiary care hospital: A radiographic study.

Introduction: Dental Agenesis is the usual developmental dental anomaly involving both primary and permanent dentition but most commonly it affects the permanent teeth. Genetic mutations in genes like MSX, PAX9,TGFA and AXIN2 are the likely primary contributors to tooth agenesis. Identifying the prevalence and distribution of congenital missing teeth allows for early detection and intervention which is crucial for preventing or mitigating potential dental issues that may arise due to missing teeth. Aim & objectives: To assess the prevalence and distribution of congenitally missing teeth across different quadrants of the jaw among patients visiting to the Dental out patient department at Tertiary Care Centre of Lucknow city. Material & method: A Questionnaire and orthopantomogram based cross-sectional study was conducted on both male and female patients aged between 15 and 30 years, coming for evaluation of their dental health problems to the hospital. Written informed consent was obtained. Results: The overall prevalence of CMT was found to be 33.3 %. The significant difference was observed in proportion of CMT between Maxilla and Mandible sites (p = 0.008). Higher prevalence was in females compared to males for both maxillary and mandibular congenital missing teeth. (p = 0.020). Conclusion: The most common CMT were third molars followed by lateral incisors. The insights derived from the study would aid dental professional in gaining a deeper comprehension of tooth agenesis.

Comparative Analysis of Mouth Self-Examination Awareness Amongst Tobacco Users in Urban and Rural Populations.

BACKGROUND: Oral cavity cancer is a growing concern, especially in developing countries like India, due to risk factors such as tobacco use, alcohol consumption, nutritional deficiencies, and spicy food intake. Early detection through screening and Mouth Self-examination (MSE) can significantly improve outcomes, but limited awareness and pain in advanced stages lead to delayed detection. This study aimed to assess the knowledge and practice of MSE among tobacco users in urban and rural populations. MATERIALS AND METHODS: A comparative cross-sectional study was conducted involving tobacco users (smoking, smokeless, or both). An observational questionnaire-based approach was employed, with informed consent obtained from participants. A questionnaire in Hindi and English was used, consisting of demographic details and 13 close-ended questions. RESULTS: The analysis revealed that individuals from urban areas (71.9%) exhibited significantly higher awareness of Mouth self- examination (MSE) compared to those from rural areas (1.9%). Chi-square analysis demonstrated that urban residents exhibited significantly higher awareness, understanding, confidence, desire for information, and positive attitudes towards Mouth Self-Examination (MSE) compared to rural residents. Multivariate analysis showed that education had a consistent and substantial impact on both knowledge and practice scores. CONCLUSION: The study highlights substantial urban-rural disparities in mouth self- examination (MSE) awareness and attitudes, with urban residents demonstrating significantly higher levels. Targeted interventions and awareness campaigns are vital to bridge this gap and improve oral health practices, especially in rural areas.

Clinical trials for Lennox-Gastaut syndrome: Challenges and priorities.

OBJECTIVE: Lennox-Gastaut syndrome (LGS) is a severe, childhood-onset epilepsy that is typically refractory to treatment. We surveyed the current landscape of LGS treatment, aiming to identify challenges to the development of efficacious therapies, and to articulate corresponding priorities toward clinical trials that improve outcomes. METHODS: The LGS Special Interest Group of the Pediatric Epilepsy Research Consortium integrated evidence from the literature and expert opinion, into a narrative review. RESULTS: We provide an overview of approved and emerging medical, dietary, surgical and neuromodulation approaches for LGS. We note that quality of care could be improved by standardizing LGS treatment based on expert consensus and empirical data. Whereas LGS natural history is incompletely understood, prospective studies and use of large retrospective datasets to understand LGS across the lifespan would enable clinical trials that address these dynamics. Recent discoveries related to LGS pathophysiology should enable development of disease-modifying therapies, which are currently lacking. Finally, clinical trials have focused chiefly on seizures involving "drops," but should incorporate additional patient-centered outcomes, using emerging measures adapted to people with LGS. INTERPRETATION: Clinicians and researchers should enact these priorities, with the goal of patient-centered clinical trials that are tailored to LGS pathophysiology and natural history.

A Multicenter Training and Interrater Reliability Study of the BASED Score for Infantile Epileptic Spasms Syndrome.

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.

Personality Traits Influence on Perception and Hesitancy Towards COVID-19 Vaccination Among Tertiary Care Dental Hospital in Delhi: A Cross-Section Study.

Background  In the COVID-19 pandemic, vaccination is recognized as a global public-health goal for preventing, containing, and stopping transmission. But the reluctance of people to receive safe and recommended available vaccines (i.e., vaccine hesitancy) was a growing concern. One of the key elements that influence how people are perceived and their reluctance to get the COVID-19 vaccine was found to be personality traits. Hence, the aim of the study was to assess the influence of personality traits on perception and hesitancy towards COVID-19 vaccination among patients attending tertiary dental care hospitals in Delhi. Methodology A cross-sectional questionnaire survey was conducted among a sample of 322 participants aged 15-70 years attending the outpatient department of a public sector tertiary care dental hospital in New Delhi. Data was collected over a two-month period using a validated self-administered questionnaire which recorded demographic variables, individual perceptions, hesitancy towards COVID-19 vaccination, and personality traits [using 20-item mini international personality item pool (IPIP)]. Descriptive analysis followed by a Chi-square test and correlation test was applied. Results A total of 322 participants were contacted among which 300 participants (93%) responded which comprised 157 males (52.3%) and 143 females (47.7%). Dominant agreeableness personality shows a statistically significant positive correlation with individual perception (r=0.124, p=0.032) while a negative correlation with vaccine hesitancy (r= -0.146, p= 0.011). Among reasons for vaccine hesitancy, fear of side effects showed a significant association with personality traits (p= 0.018). Conclusion This study concluded that personality trait (dominant agreeableness) was an important factor in shaping individual perception and hesitancy towards COVID-19 vaccination.

Novel De Novo Heterozygous Variants in the SON Gene Causing ZTTK Syndrome: A Case Report of Two Patients and Review of Neurological Findings.

Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is a newly described autosomal dominant multisystem developmental disorder resulting from a mutation of the SON gene located on chromosome region 21q22.11. It is characterized by heterogeneous features such as intellectual disability, facial dysmorphisms, poor feeding, vision abnormalities, musculoskeletal anomalies, congenital heart and genitourinary system defects, as well as several unique neurological findings including seizures, tone abnormalities, autism spectrum disorder and variable brain abnormalities noted on neuroimaging. Unfortunately, we lack adequate information regarding the spectrum of these neurological symptoms. In this study, we report 2 new unrelated cases of ZTTK syndrome, and identify new pathogenic variants in the SON gene through microarray analysis and whole-exome sequencing. We also emphasize the neurological manifestations of the syndrome in our patients and discuss the significance of gathering more data regarding neurological presentation, particularly seizure characteristics and long-term developmental progression. This information will be crucial to help understand long-term neurodevelopmental prognosis in these patients.

High-Density (HD) Scalp EEG Findings in "Benign" Childhood Epilepsy with Centrotemporal Spikes (BCECTS).

Despite characteristic clinical and scalp EEG findings, BCECTS pathophysiology is unclear regarding involvement of large-scale neuronal networks. Higher number of scalp electrodes with HD-EEG may promote accurate localization of the cortical generators in BCECTS providing additional insight in those with neurocognitive problems. We aimed to determine the value of visual interpretation of topographical maps using 256 channels (when compared to standard 21 channel array) HD-EEG in BCECTS and attempted to source localize interictal discharges (IEDs) using Geosource 2 software. Patient records were reviewed for demographic, seizure, brain magnetic resonance imaging (MRI) details; scalp and HD-EEG findings. HD-EEG software was used to review raw EEG data (21 scalp EEG electrodes were compared to 256 HD-EEG electrodes); select, average, and source localize IEDs.Five BCECTS patients with HD-EEG were identified. Seizure onset age ranged from 5-11 years with 1-18 lifetime seizures; both focal (n = 3) and focal to bilateral tonic-clonic (n = 2). Neurocognitive co-morbidities noted in our cohort included attention deficit hyperactivity disorder, speech/developmental delay and a specific learning disorder. Scalp EEG showed typical findings with IEDs over the centrotemporal regions (bilateral n = 3; unilateral n = 2). Visualization and inspection of expanded coverage topographic maps with HD-EEG showed well-defined islands of maximum negativity and positivity of a dipole compared to conventional channels where boundary delineation was obscured. Further, HD-EEG localized IEDs/"spike-generator" to areas such as the pre-and post-central, middle-frontal and temporal gyrus, and the inferior parietal lobule. In BCECTS, HD-EEG may show affection for a broader neural network and may provide a better insight into the associated neurocognitive morbidities.

Self-Perceived Halitosis and Related Factors Among the Mask-Wearing Population During the COVID-19 Pandemic in Delhi, India: A Cross-Sectional Study.

Introduction Halitosis (oral malodor) is a common health condition throughout the world. In India, data on self-reported halitosis and related factors is limited. Mouth mask usage has been made compulsory after the coronavirus disease 2019 (COVID-19) pandemic. This could possibly alter oral microflora and environment and contribute to halitosis. The aim of the study was to determine the prevalence of self-perceived halitosis (SPH) among mask-wearing patients visiting a tertiary care dental hospital in Delhi, India. Methods A cross­sectional study was conducted among a convenience sample of 300 patients visiting a tertiary care dental hospital in the capital of India. SPH status was measured using a self-designed and structured questionnaire containing socio-demographic factors, mask-related habits, and self-perceived oral health status. Statistical analysis was done using Jamovi software (The jamovi project, Sydney, Australia) version 1.8. Descriptive analysis followed by a chi-square test and a multivariate logistic regression test was applied. Results Bad breath was perceived by 86 study subjects. Of the participants, 16.7% felt that they had bad breath before the pandemic, and 38% of the participants had an increased perception or feeling of bad breath since regular mask usage. Of the participants, 42.7% felt that they had an increased feeling of dryness in the mouth post-pandemic. SPH status was associated with mask usage frequency (p<0.001), change (p<0.001) and type of mask (p=0.004), increased feeling of dryness (p<0.001), frequency of toothbrushing (p<0.001), self-reported oral disease (p=0.007), and dental treatment in the past 12 months (p=0.005). Conclusion The SPH status of the study population was associated with mask-related habits and self-reported oral health status. The findings highlight the importance of possible amendments in preventive and curative care for patients with halitosis post-COVID-19 pandemic.

Association of Time to Clinical Remission With Sustained Resolution in Children With New-Onset Infantile Spasms.

BACKGROUND AND OBJECTIVES: Standard therapies (adrenocorticotropic hormone [ACTH], oral steroids, or vigabatrin) fail to control infantile spasms in almost half of children. Early identification of nonresponders could enable rapid initiation of sequential therapy. We aimed to determine the time to clinical remission after appropriate infantile spasms treatment initiation and identify predictors of the time to infantile spasms treatment response. METHODS: The National Infantile Spasms Consortium prospectively followed children aged 2-24 months with new-onset infantile spasms at 23 US centers (2012-2018). We included children treated with standard therapy (ACTH, oral steroids, or vigabatrin). Sustained treatment response was defined as having the last clinically recognized infantile spasms on or before treatment day 14, absence of hypsarrhythmia on EEG 2-4 weeks after treatment, and persistence of remission to day 30. We analyzed the time to treatment response and assessed clinical characteristics to predict sustained treatment response. RESULTS: Among 395 infants, clinical infantile spasms remission occurred in 43% (n = 171) within the first 2 weeks of treatment, of which 81% (138/171) responded within the first week of treatment. There was no difference in the median time to response across standard therapies (ACTH: median 4 days, interquartile range [IQR] 3-7; oral steroids: median 3 days, IQR 2-5; vigabatrin: median 3 days, IQR 1-6). Individuals without hypsarrhythmia on the pretreatment EEG (i.e., abnormal but not hypsarrhythmia) were more likely to have early treatment response than infants with hypsarrhythmia at infantile spasms onset (hazard ratio 2.23, 95% CI 1.39-3.57). No other clinical factors predicted early responders to therapy. DISCUSSION: Remission after first infantile spasms treatment can be identified by treatment day 7 in most children. Given the importance of early and effective treatment, these data suggest that children who do not respond to standard infantile spasms therapy within 1 week should be reassessed immediately for additional standard treatment. This approach could optimize outcomes by facilitating early sequential therapy for children with infantile spasms.

FARS2 (Phenylalanyl-tRNA Synthetase 2) Deficiency: A Novel Mutation Associated with EEG Phenotype of Epilepsy of Infancy with Migrating Focal Seizures (EIMFS).

Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare devastating infantile epileptic encephalopathy that is characterized by a unique electroencephalopgraphy (EEG) signature of multifocal simultaneous seizures. Although no definite etiology is understood for EIMFS, mutations in certain ion channels, are implicated. Similarly, phenylalanyl-tRNA synthetase 2 (FARS2) deficiency is a rare, autosomal recessive disorder of dysfunctional mitochondrial translation causing refractory seizures, lactic acidosis, and developmental regression with a variety of EEG findings. However, an EIMFS-like pattern on EEG in FARS2 deficiency has only recently been reported once. Herein, we describe a seven-week-old male with seizures where whole exome sequencing (WES) revealed pathogenic FARS2 variants and an EIMFS pattern on EEG. This case provides an insight on a novel genetic mechanism for EIMFS. We encourage early consideration of WES when EIMFS is detected to evaluate for FARS2 deficiency, especially in the setting of profound lactic acidosis.

Pleasure and Displeasure: Thunderclap Headache in a 13-Year-Old Boy.

Primary headache associated with sexual activity (PHASA) is a rare headache syndrome characterized by an acute, maximally intense headache during sexual activity and/or orgasm. While rare, it is a diagnosis that is widely accepted in adults; but, scarcely documented in children and adolescents. We aim to highlight the diagnostic process of this interesting headache syndrome in the pediatric population and add to the small list of reported cases in this group. Herein, we describe the case of a 13-year-old boy who presented with thunderclap headaches (TCH) associated with sexual activity. While more commonly diagnosed in adults, PHASA should be considered in sexually active children, though more ominous diagnoses should also be contemplated prior to establishing this diagnosis.