Neurology Commons^™

Self-Management For People With Epilepsy And A History Of Negative Health Events (Smart): A Randomized Controlled Effectiveness Trial, Martha Sajatovic, Jessica Black, Jacqueline Krehel-Montgomery, Richard Barigye, Joy Yala, Clara Adeniyi

Faculty Scholarship

Objectives: This 2-site, 6-month randomized controlled trial of an epilepsy self-management (ESM) curriculum (SMART) vs. 6-month waitlist (WL) control assessed effects on epilepsy outcomes in 160 people with epilepsy (PWE). Methods: PWE had at least 1 negative health event (NHE) defined as a seizure, emergency department visit, hospitalization or self-harm attempt in the last 6 months. Primary outcomes were differences in proportions of PWE with reductions in NHEs from baseline to 6 months follow up and change in NHE/seizure counts between SMART and WL. Secondary outcomes included the Patient Health Questionnaire (PHQ-9), 36-Item Short Form Survey (SF-36), Quality of Life …

A Hierarchy Of Pdz Domain Scaffolding Proteins Clusters The Kv1 K+ Channel Protein Complex At The Axon Initial Segment, Wei Zhang, Victoria L Palfini, Yu Wu, Xiaoyun Ding, Allison J Melton, Yudong Gao, Yuki Ogawa, Matthew N Rasband

Faculty, Staff and Students Publications

Action potentials are initiated and modulated at the axon initial segment (AIS) by highly clustered ion channels. Voltage-gated Kv1 potassium channels underlie most outward AIS K+ current. AIS Kv1 channels exist in a large protein complex including ADAM22, Caspr2, and LGI1. However, their clustering mechanisms remain unknown. Because Kv1 channels have a highly conserved PDZ-binding motif, we used CRISPR-based genome editing to screen 18 PDZ domain-containing proteins identified in our previous AIS proximity proteome for their AIS localization. Among these, we found that the scaffolding proteins SCRIB and PSD93 are highly enriched at the AIS. Using CRISPR-mediated knockout, cell surface …

Neuroanatomical And Morphometric Differences In Children Who Stutter, Mohammad A. Khan

Honors Scholar Theses

Childhood-Onset Fluency Disorder commonly known as stuttering is a neurodevelopmental speech disorder characterized by disruptions in speech fluency. While genetic and neurobiological factors are implicated, the structural brain differences underlying stuttering remain unclear. This study investigated neuroanatomical alterations in children who stutter (CWS) compared to typically fluent children (TFC), focusing on gray matter volume, cortical thickness, and surface area in speech-related regions; the Inferior Frontal Gyrus, Middle Temporal Gyrus, and Pre-motor Operculum. High-resolution MRI data from 100 children (48 CWS, 52 TFC) aged 3–12 years were analyzed using FreeSurfer. Group comparisons revealed no statistically significant differences in cortical thickness, surface …

Development And Feasibility Testing Of An Implementation Evaluation Tool: Recommendations From The Managing Epilepsy Well (Mew) Network Research Collaborative, Martha Sajatovic, Clara Adeniyi, Jessie Black

Faculty Scholarship

Aims: The Managing Epilepsy Well (MEW) Network has led the development, testing and scale-up of epilepsy self-management (ESM). The MEW Integrated Database (MEW DB) is a pooled repository of archival studies that facilitates aggregate analysis. This report describes an implementation evaluation tool for ESM adopters. Methods: Publicly available materials on program implementation, adoption and sustainability as well as readiness surveys used by the MEW Network were reviewed, as were content domains and format styles relevant to ESM implementation. Requirements for data Tiers included: 1) survey Tier should be short (≤6 items) and completed quickly (< 3 min), 2) question and response format should be consistent, 3) data elements are relevant to ESM adopters and 4) the tool should be applicable across ESM programs. Iterative review, discussion and item-ranking yielded a final set of 3 distinct data element Tiers. Results: Implementation data elements assess the characteristics of organization that may be a potential ESM adopter (Tier 1), organizational readiness to ESM implementation (Tier 2) and perceptions of ESM program effects or impact by adopters at the individual and program levels (Tier 3). There are 18 data elements, 6 elements in each Tier. Organizational characteristics reflect health disparities among people with epilepsy and common comorbidities. Implementation readiness barriers include motivational factors, training and resources. Implementation experience/outcomes include perceived ESM duration, credibility, impact, likability and effectiveness. Conclusions: A brief and practical implementation evaluation tool for ESM has potential value and important clinical and policy implications in advancing care for people with epilepsy.

A Multicenter, Propensity Score-Matched Analysis Of Functional Outcomes And Recanalization Success With Or Without Trevo For Medium And Distal Vessel Occlusion, James E Siegler, Manisha Koneru, Hamza Shaikh, Hamza Adel Salim, Basel Musmar, Nimer Adeeb, Vivek Yedavalli, Motaz Daraghma, Kareem El Naamani, Nils Henninger, Sri Hari Sundararajan, Anna Luisa Kühn, Sherief Ghozy, Luca Scarcia, Benjamin Yq Tan, Jeremy J Heit, Robert W Regenhardt, Rami Z Morsi, Tareq Kass-Hout, Nicholas Vigilante, Nicole M Cancelliere, Joshua D Bernstock, Aymeric Rouchaud, Jens Fiehler, Sunil A Sheth, Muhammed Amir Essibayi, Ajit S Puri, Christian Dyzmann, Marco Colasurdo, Xavier Barreau, Leonardo Renieri, João Pedro Filipe, Pablo Harker, Răzvan Alexandru Radu, Thomas R Marotta, Julian Spears, Takahiro Ota, Ashkan Mowla, Pascal Jabbour, Arundhati Biswas, Frédéric Clarençon, Piers Klein, Mohamad Abdalkader, Thanh N Nguyen, Ricardo Varela, Amanda Baker, David Altschul, Nestor R Gonzalez, Markus A Möhlenbruch, Vincent Costalat, Benjamin Gory, Christian Paul Stracke, Constantin Hecker, Christoph J Griessenauer, David S Liebeskind, Alessandro Pedicelli, Andrea M Alexandre, Illario Tancredi, Tobias D Faizy, Erwah Kalsoum, Boris Lubicz, Aman B Patel, Vitor Mendes Pereira, Jane Khalife, Ankit Rana, Adrien Guenego, Adam A Dmytriw, Mad Mt Investigators

Faculty, Staff and Student Publications

BackgroundEndovascular therapy (EVT) for stroke due to distal or medium vessel occlusion (DMVO) is safe. Due to the distinct anatomical characteristics of DMVOs, further evaluation of EVT is crucial to determine which devices may yield better outcomes.MethodsA retrospective analysis of adults with DMVO treated in 37 centers (11 countries) was queried. The primary outcome of favorable shift in 90-day modified Rankin Scale (mRS) was compared between patients treated with Trevo versus other devices on first pass using 1:1 propensity score matching (PSM) with multivariable adjustment. Secondary outcomes included the number of pass attempts, final thrombolysis in cerebral infarction (TICI) score …

Safe Paralytic Reversal For Neurologic Examinations, Keenan Piper, Md

Health Equity and Quality Improvement (HEQI) Summit

AIM Statement

Institute a protocol for safe administration of sugammadex to obtain neurologic exams with a goal of 90% adherence and three or less agitation-related complications over a 6-month period

Literature Review Of Stiff Person Syndrome, Mustafa Ansari, Adam Davis, Donald Penney

The Journal of Integrated Primary Care

Background: Stiff Person Syndrome (SPS) is a rare, debilitating autoimmune neurological disorder characterized by progressive muscle rigidity, painful spasms, and gait disturbances. It is strongly associated with autoantibodies against glutamic acid decarboxylase (GAD), leading to impaired GABAergic neurotransmission. SPS exists on a spectrum, with both classical and paraneoplastic variants, the latter often linked to malignancies such as breast cancer.

Methods: This review synthesizes current literature on the pathophysiology, clinical presentation, diagnostic criteria, and treatment modalities of SPS. We examine emerging therapies, including immunomodulatory approaches and antibody-targeted interventions, to address the heterogeneity of disease progression and treatment response.

Results: SPS remains …

Movement Disorders In Relapsing And Progressive Ms: A Comprehensive Prospective Evaluation Of A Large Real-Life Cohort, Hannah Kelly, Rongyi Sun, Mohamed Elkasaby, Alexander Wang, Hesham Abboud

Faculty Scholarship

Background: Recent studies suggest that movement disorders are common in early MS. However, the frequency and clinical characteristics of movement disorders at all stages of MS remain unknown. Objectives: To evaluate the frequency, clinical characteristics, and anatomical generators of movement disorders in relapsing and progressive MS. Methods: We conducted a prospective study of adult MS patients from 2016 to 2022 at a neuroimmunology clinic. Patients were evaluated for demyelination-related movement disorders via a survey and focused examination. We classified movement disorders based on phenomenology and identified anatomic correlates according to lesion locations and relation to relapses. Findings were compared between …

Multicentre Analysis Of Seizure Outcome Predicted By Removal Of High-Frequency Oscillations, Vasileios Dimakopoulos, Jean Gotman, Petr Klimes, Nicolas Von Ellenrieder, Shi Bei Tan, Garnett Smith, Stephen V. Gliske, Margarita Maltseva, Minette Krisel Manalo, Martin Pail, Milan Brazdil, Dorien Van Blooijs, Maryse A. Van 'T Klooster, Sarah Johnson, Samantha Laboy, Debora Ledergerber, Lukas Imbach, Christos Papadelis, Michael R. Sperling, Maeike Zijlmans, Jan Cimbalnik, Julia Jacobs, William C. Stacey, Birgit Frauscher, Johannes Sarnthein

Department of Neurology Faculty Papers

In drug-resistant focal epilepsy, planning surgical resection can involve presurgical intracranial EEG (iEEG) recordings to detect seizures and other iEEG patterns to improve postsurgical seizure outcome. We hypothesized that resection of tissue generating interictal high-frequency oscillations (HFOs, 80-500 Hz) in the iEEG predicts surgical outcome. In eight international epilepsy centres, iEEG was recorded during the presurgical evaluation of patients. The patients were of all ages, had epilepsy of all types, and underwent surgical resection of a single focus aiming at seizure freedom. In a prospective analysis, we applied a fully automated definition of HFO that was independent of the dataset. …

International Multi-Center Study Of Middle Meningeal Artery Embolization For Chronic Subdural Hematoma In Cancer Patients: Efficacy, Safety, And Outcomes In A High-Risk Population, Avi A Gajjar, Mohamed M Salem, Georgios S Sioutas, Rashad Jabarkheel, Okkes Kuybu, Jane Khalife, Daniel A Tonetti, Gustavo Cortez, Adam A Dmytriw, Diego Alejandro Ortega Moreno, William Smith, Robert W Regenhardt, Kate T Carroll, Zachary A Abecassis, Juan Francisco Ruiz Rodriguez, Oleg Shekhtman, Alex Nguyen Hoang, Alexander A Khalessi, Cordell Baker, Matthias Matejka, Nicole M Cancelliere, Christoph J Griessenauer, Ramesh Grandhi, Peter Kan, Omar Tanweer, Michael R Levitt, Christopher J Stapleton, Vitor Mendes Pereira, Brian Jankowitz, Howard A Riina, Aman B Patel, Ricardo Hanel, Ajith J Thomas, Michael J Lang, Bradley A Gross, Jan-Karl Burkhardt, Visish M Srinivasan

Faculty, Staff and Students Publications

Background

Middle meningeal artery embolization (MMAE) is a promising treatment for chronic subdural hematoma (cSDH). Cancer patients are at risk for cSDH due to thrombocytopenia. The efficacy of MMAE in this population has not been studied.

Methods

We conducted a retrospective analysis of 76 patients who underwent 94 MMAEs for cSDH at 12 tertiary centers across North America and Europe between February 2018 and January 2023. We analyzed patient demographics, clinical profiles, procedural details, and outcomes. The primary outcome was cSDH progression, while secondary outcomes included radiographic resolution, mortality, 90-day functional outcomes, functional improvement, and procedural complications.

Results

Radiographic improvement …

Long-Term Outcomes Of Resolute Onyx Zotarolimus-Eluting Stents For Symptomatic Intracranial Stenosis: A Multicenter Propensity Score-Matched Comparison With Stenting Versus Aggressive Medical Management For Preventing Recurrent Stroke In Intracranial Stenosis Trial, Omid Shoraka, Ramesh Grandhi, Samantha Miller, Joanna Roy, Vinay Jaikumar, Basel Musmar, Omar Tanweer, Jan-Karl Burkhardt, Pascal M Jabbour, Adnan H Siddiqui, Farhan Siddiq, Ameer E Hassan

Faculty, Staff and Students Publications

Background

Intracranial atherosclerotic disease (ICAD) is a leading cause of ischemic stroke. The Medtronic Resolute Onyx Zotarolimus-eluting stents (RO-ZES) are promising in preventing stroke recurrence compared with medical management (MM) and percutaneous angioplasty and stenting (PTAS) at both 30-day and one-year follow-ups. We evaluated long-term outcomes for patients treated with RO-ZES, PTAS, or MM.

Methods

A retrospective multicenter study was conducted including patients who underwent RO-ZES stenting for symptomatic ICAD between March 2018 and May 2023, with follow-up through October 2024. Propensity score-matched control groups, representing MM and PTAS, were derived from the SAMMPRIS trial. Primary outcomes included recurrence rates …

Effect Of Race On Procedural And Clinical Outcomes In Middle Meningeal Artery Embolization For Primary And Adjunctive Treatment Of Chronic Subdural Hematoma, Santiago Gomez-Paz, Mohamed M Salem, Cordell Baker, Okkes Kuybu, Georgios S Sioutas, Kate T Carroll, Mira Salih, Adam A Dmytriw, Jane Khalife, William Smith, Diego Alejandro Ortega Moreno, Robert W Regenhardt, Nicole M Cancelliere, Alejandro M Spiotta, Omar Tanweer, Christopher J Stapleton, Michael Lang, Vitor M Pereira, Aman B Patel, Adnan H Siddiqui, Elad I Levy, Christopher S Ogilvy, Daniel Tonetti, Ajith J Thomas, Visish M Srinivasan, Brian T Jankowitz, Michael R Levitt, Bradley A Gross, Jan-Karl Burkhardt, Ramesh Grandhi

Faculty, Staff and Students Publications

Background

We investigated racial disparities in radiologic and clinical outcomes of patients after middle meningeal artery embolization (MMAE) for chronic subdural hematoma (CSDH) with or without evacuation surgery.

Methods

This multicenter retrospective study includes consecutive patients who underwent MMAE across 11 institutions in North America (10 in the United States and 1 in Canada). Patients were stratified using self-reported racial data. Outcomes of interest were complications, treatment failure/reoperations, resolution of hematoma, and functional independence at last follow-up. Multivariable regression models were used to assess and adjust for relevant confounders.

Results

A total of 557 patients underwent 663 MMAEs, including 323 …

Neurodegenerative Disease Mechanisms: Mitochondrial Impairment, Tau Aggregation, And Neuroinflammation As Central Drivers Of Disease Progression, Luis D. Estrella

Theses & Dissertations

The study of the intricate molecular mechanisms behind the pathology of neurodegenerative diseases has become a primary research area in the past decades. The major branches of these studies involve both disease progression and disease pathogenesis, in which neuroscientists have studied, and continue to study, the role that mitochondrial dysfunction, aberrant protein aggregation (like Tau), and immune cell reactions have on these. However, more recent studies have shined light to the fact that these three pathological features are not independent from one another and that their synchronous contributions may be the ultimate driver of neurodegeneration. This dissertation encompasses four different …

Impaired Dnajb2 Response To Heat Shock In Fibroblasts From A Neuropathy Patient With Dnajb2/Hsj1 Mutation: Cystamine As A Potential Therapeutic Intervention, Raj K. Pradhan, Nikolas G. Kinney, Brigid K. Jensen, Hristelina Ilieva

Farber Institute for Neuroscience Faculty Papers

Background and Objectives: Neuropathy is a debilitating disorder characterized by peripheral nerve dysfunction and damage to sensory, motor, and autonomic neurons and their axons. While homozygous mutations in DNAJB2/HSJ1 have been linked to early-onset neuropathy, a heterozygous DNAJB2 c.823+6C>T was discovered in an adult patient with severe sensory–motor polyneuropathy. This mutation is predicted to affect both isoforms of the protein. DNAJB2 (HSP40), a key member of the heat shock protein family, plays a critical role in cellular protection and stress, including response to heat shock. DNAJB2 traffics unfolded proteins to another heat shock protein, HSP70, and activates its ATPase …

Intracellular Inclusions Induced By Patient-Derived And Amplified Α-Synuclein Aggregates Are Morphologically Indistinguishable, Rabab Al-Lahham, Mark E Corkins, Mohd Ishtikhar, Prakruti Rabadia, Santiago Ramirez, Victor Banerjee, Mohammad Shahnawaz

Faculty, Staff and Student Publications

Lewy Body Disease (LBD) and Multiple System Atrophy (MSA) are synucleinopathies with distinct prognoses and neuropathologies, however, with overlapping clinical symptoms. Different disease characteristics are proposed to be determined by distinct conformations of alpha-synuclein (α-Syn) aggregates, which can self-propagate and spread between cells via a prion-like mechanism. The goal of this study is to investigate whether α-syn aggregates amplified from brain and CSF samples of LBD and MSA patients using the Seed Amplification Assay (SAA) maintain α-Syn seeding properties similar to those of α-syn aggregates derived from patients' brains. To address this, SAA-amplified and un-amplified α-Syn aggregates from LBD and …

Hippocampal-Prefrontal Functional Neural Networks In A Rat Model Of Fragile X Syndrome Are Poorly Organized With Limited Resiliency, Mohamed Ouardouz, Patrick Jasinski, Mohamed Khalife, J. Matthew Mahoney, Amanda E. Hernan, Rod C. Scott

Department of Neurology Faculty Papers

Fragile X Syndrome (FXS) is a common cause of autism spectrum symptoms. The genetic mutation results in multiple molecular alterations that are hypothesized to negatively impact neural circuit development although the nature of any functional neural dynamic consequences remain unclear. Therefore, the characteristics of hippocampal-prefrontal (H-PFC) network dysfunction were investigated in a rat model of FXS. FMR-KO and control rats underwent behavioral tests assessing sociability, memory, and anxiety to validate and replicate previously recognized deficits. Single-unit electrophysiology in the H-PFC circuit during exploration was used to measure patterns of action potential firing that were then compared between groups using generalized …

Brain And Cerebrospinal Fluid 3d Center Of Mass Shift After Spaceflight, Katherine G Warthen, Stuart H Sater, Larry A Kramer, Khader M Hasan, Michael A Williams, Millennia Young, Brandon R Macias, Steven S Laurie, Bryn A Martin

Faculty, Staff and Student Publications

A subset of long-duration spaceflight astronauts at the International Space Station has been documented to develop spaceflight associated neuro-ocular syndrome (SANS). Researchers have sought to understand SANS by quantification of ocular and brain structural changes thought to be associated with weightlessness induced headward fluid shift. Brain tissue shift and cerebrospinal fluid (CSF) redistribution has been observed as measured by MRI on return to Earth, and not fully quantified. To improve the understanding of this phenomenon, we developed and applied automated methods to quantify 3D center of mass shift within the skull of the extra-axial cerebrospinal fluid (eaCSF) and brain after …

Characterising Acute And Chronic Care Needs: Insights From The Global Burden Of Disease Study 2019, A. A. Asadi-Pooya

Department of Neurology Faculty Papers

Chronic care manages long-term, progressive conditions, while acute care addresses short-term conditions. Chronic conditions increasingly strain health systems, which are often unprepared for these demands. This study examines the burden of conditions requiring acute versus chronic care, including sequelae. Conditions and sequelae from the Global Burden of Diseases Study 2019 were classified into acute or chronic care categories. Data were analysed by age, sex, and socio-demographic index, presenting total numbers and contributions to burden metrics such as Disability-Adjusted Life Years (DALYs), Years Lived with Disability (YLD), and Years of Life Lost (YLL). Approximately 68% of DALYs were attributed to chronic …

Drug-Induced Hypersensitivity Syndrome Resulting In Hepatotoxicity And Epstein-Barr Virus Reactivation Following Initiation Of Levetiracetam, Zechariah Jung, Xavier Zonna, Samuel J. Wlasowicz, Conor Banta, Lawrence Canale, Joseph Bielecki

Advances in Clinical Medical Research and Healthcare Delivery

A 28-year-old male with a past medical history of alcohol abuse had new-onset seizures suspected to be caused by alcohol use. Twelve days after starting levetiracetam for seizure prophylaxis, he began to develop a pruritic rash, darkening of his urine, periods of jaundice, and hot flashes that correlated with the timing of his levetiracetam dosing. He was subsequently found to have lymphocyte-predominant leukocytosis, elevated aminotransferases, and alkaline phosphatase. Following discontinuation of his levetiracetam, he was found to have positive Epstein-Barr virus (EBV) serology suggestive of reactivation. This case demonstrates levetiracetam as a rare cause of drug-induced hypersensitivity syndrome (DIHS) along …

Chorea Hyperglycemia Basal Ganglia (Chbg) Syndrome: A Case Report, Ammad Naeem, Mohamad Omar Beck, Ahsan R. Khan, Ribal Sajjad

Journal of Community Hospital Internal Medicine Perspectives

Chorea, characterized by sudden, involuntary movements of the face and limbs, arises from various causes, including neurodegenerative diseases, metabolic disorders, and structural brain changes, notably in the basal ganglia. Acute lesions in the basal ganglia due to ischemia or vascular pathology can also precipitate chorea. Hyperglycemia-induced basal ganglia changes, termed chorea hyperglycemia basal ganglia, predominantly affect elderly females with type 2 diabetes. We report a 62- year-old female with poorly managed diabetes presenting with involuntary jerking movements, initially in the right leg, progressing to the right arm, face, and lips over three days. Her history included hyperlipidemia and hypertension, and …

Protocol For A Randomized Controlled Trial To Determine If Biomarkers Predict Response To A Pediatric Chronic Pain Symptom Management Program, Rona L Levy, Tasha B Murphy, Margaret M Heitkemper, Miranda A L Van Tilburg, Ann R Mcmeans, Jocelyn Chang, Cynthia Boutte, Katherine Lamparyk, Bruno P Chumpitazi, Robert J Shulman

Faculty, Staff and Students Publications

Background/Objectives: Disorders of gut-brain interaction (DGBI), characterized by chronic abdominal pain and significant disability, affect 15-20% of children and adults and continue into adulthood in ~60% of cases. Costs for adults reach USD 30 billion per year, yet effective management strategies are elusive. Studies support using cognitive behavioral therapy (CBT), but abdominal pain only improves in ~40% of patients. Dietary management (low FODMAP diet; LFD) has also shown promise but it is effective in only a similar percentage of patients. Studies suggest that biologic factors (biomarkers) contribute to CBT response. Similarly, gut microbiome composition appears to influence abdominal pain …

Alzheimer’S Disease Protective Allele Of Clusterin Modulates Neuronal Excitability Through Lipid-Droplet-Mediated Neuron-Glia Communication, Xiaojie Zhao, Yan Li, Siwei Zhang, Ari Sudwarts, Hanwen Zhang, Alena Kozlova, Matthew J Moulton, Lindsey D Goodman, Zhiping P Pang, Alan R Sanders, Hugo J Bellen, Gopal Thinakaran, Jubao Duan

Duncan NRI Faculty and Staff Publications

Background: Genome-wide association studies (GWAS) of Alzheimer's disease (AD) have identified a plethora of risk loci. However, the disease variants/genes and the underlying mechanisms have not been extensively studied.

Methods: Bulk ATAC-seq was performed in induced pluripotent stem cells (iPSCs) differentiated various brain cell types to identify allele-specific open chromatin (ASoC) SNPs. CRISPR-Cas9 editing generated isogenic pairs, which were then differentiated into glutamatergic neurons (iGlut). Transcriptomic analysis and functional studies of iGlut co-cultured with mouse astrocytes assessed neuronal excitability and lipid droplet formation.

Results: We identified a putative causal SNP of CLU that impacted neuronal chromatin accessibility to transcription-factor(s), with …

Socio-Medical Factors Associated With Neurodevelopmental Disorders On The Kenyan Coast, Patricia Kipkemoi, Jeanne E. Savage, Joseph Gona, Kenneth Rimba, Martha Kombe, Paul Mwangi, Collins Kipkoech, Beatrice Mkubwa, Amina Abubakar, Charles Newton

Institute for Human Development, East Africa

Neurodevelopmental disorders (NDDs) are a group of conditions with their onset during the early developmental period and include conditions such as autism and intellectual disability. Occurrence of NDDs is thought to be determined by both genetic and environmental factors, but data on the role of environmental factors for NDD in Africa is limited. This study investigates environmental influences on NDDs in children from Kenya. This case-control study compared children with NDDs and typically developing children from two studies on the Kenyan coast. We included 172 study participants from the Kilifi Autism study and 151 from the NeuroDev study who had …

Rare Jugular Bulb Tumor Presenting As Bilateral Papilledema, Yoona Choe, Matthew Boyle, Peter Maduka

Rowan-Virtua Research Day

Optic disc edema, which may arise from a range of inflammatory, ischemic, compressive, infiltrative, or hereditary causes, can also indicate elevated intracranial pressure in the form of papilledema. Given its potential association with life-threatening conditions such as mass lesions or venous sinus thrombosis, timely identification and thorough evaluation are critical. In this case, a 61-year-old female presented with a complaint of a new-onset floater in her left eye. Despite minimal symptoms and an unremarkable systemic review, dilated fundus examination revealed bilateral optic disc edema with hyperemia and hemorrhages, prompting urgent neuroimaging. MRI and MRV identified venous thrombi in the right …

Genome-Wide Association Meta-Analyses Of Drug-Resistant Epilepsy, Costin Leu, Andreja Avbersek, Remi Stevelink, Helena Martins Custodio, Siwei Chen, Doug Speed, Caitlin A Bennett, Lina Jonsson, Unnur Unnsteinsdóttir, Andrea L Jorgensen, Gianpiero L Cavalleri, Norman Delanty, John J Craig, Chantal Depondt, Michael R Johnson, Bobby P C Koeleman, Emadeldin Hassanin, Maryam Erfanian Omidvar, Roland Krause, Holger Lerche, Anthony G Marson, Terence J O'Brien, Josemir W Sander, Graeme J Sills, Pasquale Striano, Federico Zara, Hreinn Stefansson, Kari Stefansson, Patrick May, Benjamin M Neale, Dennis Lal, Samuel F Berkovic, Epi25 Collaborative, Epipgx Consortium, Sanjay M Sisodiya

Faculty, Staff and Student Publications

Background: Epilepsy is one of the most common neurological disorders, affecting over 50 million people worldwide. One-third of people with epilepsy do not respond to currently available anti-seizure medications, constituting one of the most important problems in epilepsy. Little is known about the molecular pathology of drug resistance in epilepsy, in particular, possible underlying genetic factors are largely unknown.

Methods: We performed a genome-wide association study (GWAS) in two epilepsy cohorts of European ancestry, comparing drug-resistant (N = 4208) to drug-responsive individuals (N = 2618) followed by meta-analyses across the studies. Next, we performed subanalyses split into two broad subtypes: …

Managing Refractory Epilepsy In A Resource Limited Setting—Doing More With Less, Ruta Yardi, Kurupath Radhakrishnan, Pauline Samia, Janet Wilson, Amza Ali

Paediatrics and Child Health, East Africa

Drug-resistant epilepsy (DRE) disproportionately affects individuals in low- and middle-income countries (LMIC), where access to affordable and effective care remains a significant challenge. Patients with DRE face high healthcare costs, inadequate access to epilepsy surgery, and limited availability of trained professionals. This review explores a multifaceted approach to managing DRE in resource-constrained settings. Key strategies include rational polypharmacy with cost-effective antiseizure medications (ASM), implementation of dietary therapies like the ketogenic diet, and cost-conscious presurgical evaluations. Enhancing emergency care systems, particularly for conditions like status epilepticus, is critical, as is the development of standardized diagnostic and treatment protocols and training programs …

Is The Vaping Epidemic Linked To Neurologic Changes And Mental Health Diagnoses Amongst Us Adolescents?, Tracy Lin, Victoria Shwe

Rowan-Virtua Research Day

Vaping has significantly increased among U.S. adolescents, driven by the rise of e-cigarettes and flavored pods. Nicotine exposure during brain development is linked to changes in the limbic-dopaminergic system, white matter integrity, and increased risk of emotional and behavioral dysregulation. Higher rates of depression, anxiety, and suicidality are reported among adolescent users, with greater symptom severity seen in those with high vaping dependence. Though studies show correlation rather than causation, findings suggest vaping may contribute to rising mental health diagnoses. Addressing vaping’s neurological and psychological impact is critical to guiding prevention efforts, regulatory policies, and support for at-risk youth.

Is Acupuncture At The Auricular Shenmen Point Effective In Treating Anxiety?, Nicole Vaiani, Alexander King, Venkateswar Venkataraman

Rowan-Virtua Research Day

Anxiety disorders are the most prevalent mental health condition in the United States and are often managed with pharmacological interventions, which can lead to adverse side effects. As a result, alternative therapies such as acupuncture are gaining attention. This study investigates the effectiveness of auricular acupuncture, specifically targeting the Shenmen point, in reducing symptoms of anxiety. We analyzed ten randomized controlled trials that included quantitative outcome measures. The results suggest that auricular acupuncture at the Shenmen point is an effective and well-tolerated adjunctive treatment for anxiety. While further research with larger sample sizes and extended follow-up periods is warranted, these …

Investigating Sleep Quality In Post-Stroke Delirium: A Scoping Review, Shay Greco, Bethany C. Young

Rowan-Virtua Research Day

Background: Delirium affects approximately 59% of hospitalized patients with intracerebral hemorrhage and is associated with poor outcomes. Sleep-wake cycle disturbances are hypothesized to contribute to delirium development, particularly in neurointensive care settings where frequent sleep interruptions occur.

Methods: We conducted a scoping review of literature published between 2014-2024 using PubMed, CINAHL, Embase, and Cochrane databases. Studies were included if they observed sleep in adult stroke populations.

Results: Four observational studies (2018-2023) met inclusion criteria, with sample sizes ranging from 20-112 participants. All studies included patients with ICH. All studies reported associations between poor sleep in patients with ICH and delirium …

A Better Road To Recovery- Effectiveness Of Osteopathic Manipulative Treatment Compared To Conventional Methods On Post-Concussion Patients, Joliana H. Eskandar

Rowan-Virtua Research Day

Background:

Concussion, a form of traumatic brain injury, often presents with sleep disturbances, headache, confusion, and memory impairment. Current treatment includes reduced screen time, physical activity, and increased rest. For decades, these treatment options have demonstrated improvement in symptoms. Recently, there is growing interest in whether using osteopathic manipulative treatment (OMT) to target structural dysfunctions is more effective. This review compares OMT to conventional treatment methods in post-concussion patients.

Methods:

This literature review uses data from clinical trials, randomized controlled trials, observational studies, and case reports within the past 10-15 years. It includes adolescents, adults, elderly, athletes, and non-athletes while …