Searched for: Department/Unit:Neurology
Smartphone videos for infantile epileptic spasms triaging and assessment (VISTA study): Impact of education and standardized clinical history on diagnostic accuracy
Shrock, Christine L; Savage, Margaret C; Sham, Lauren; Cortina, Christopher; Gray, Kathryn P; Lee, I-Hsiu; Triki, Chahnez C; French, Jacqueline; Cross, J Helen; Devinsky, Orrin; Wilmshurst, Jo M; Patel, Archana A
OBJECTIVE:Diagnostic and treatment delays in infantile epileptic spasms syndrome (IESS) increase the risk of poor neurodevelopmental outcomes. Early clinical recognition of IESS is essential, especially in regions lacking expedited access to electroencephalograms (EEG). This study aimed to determine clinicians' accuracy at recognizing infantile epileptic spasms (ES) based on smartphone videos, and the impact of brief IESS education on accuracy, diagnostic confidence, and willingness to treat without EEG. METHODS:This multicenter prospective cohort study took place over seven sessions globally from 2022 to 2023. Smartphone videos of children from the US and South Africa with EEG-confirmed diagnoses of IESS (6 videos) and non-epileptic ES-mimickers (3 videos) were obtained. Staff physicians and trainee participants from multiple subspecialties worldwide viewed videos three times: (1) baseline viewing, (2) after brief IESS training, and (3) with clinical history. Surveys on diagnosis and management were completed after each viewing. RESULTS:Of 187 participants who attended a session and initiated a survey, 180 (80 trainees [44%]) met the inclusion criteria. Initial diagnostic accuracy averaged 64% (95% confidence interval [CI]: 62-66%) and improved to 72% (69-74%) after IESS training and clinical history (V + T + CHx). Area under the curve for diagnostic performance of smartphone videos was 0.80 (0.78-0.82), and sensitivity was 0.85 (0.83-0.88) after V + T + CHx. The odds of making a correct diagnosis increased by 86% (OR 1.86, CI 1.59-2.18, p < 0.001) after V + T + CHx. Diagnostic confidence and clinician comfort level treating ES without EEG also improved significantly after V + T + CHx (by 0.36 points and 0.45 points, respectively, on 5-point Likert scales, p < 0.001). Diagnostic accuracy correlated strongly with increased diagnostic confidence and increased clinician comfort level managing patients without an EEG (p < 0.001). Staff physicians had a 24% higher likelihood of making a correct diagnosis than trainees. SIGNIFICANCE/CONCLUSIONS:Smartphone videos, especially when enhanced by brief IESS training, can facilitate triage and early identification of infantile ES, reducing diagnostic delays in this time-sensitive condition. PLAIN LANGUAGE SUMMARY/CONCLUSIONS:Infantile epileptic spasms syndrome is associated with severe developmental impacts, which can be worsened by delayed treatment. Rapid diagnosis is critical, especially in resource-limited settings lacking specialists and timely access to diagnostic tests. Our study found that clinician participants identified epileptic spasms, the hallmark seizure type of this condition, based on video alone with moderately high accuracy, and accuracy improved after education and clinical information. Thus, smartphone videos, particularly when enhanced by brief training, may be an effective tool to triage movements concerning for epileptic spasms, potentially improving resource allocation and reducing diagnostic delays in this urgent childhood epilepsy condition.
PMID: 42283429
ISSN: 2470-9239
CID: 6048852
Real-world use of lecanemab: patient pathway findings from a US multicenter study
Rosenbloom, Michael; Adams, Courtney; Allen, Brooke; Berry, Brent; Camargo, Christian; Cooper, Gregory; Giles, Samuel; Leahy, Cara; Sabbagh, Marwan; Sadowski, Martin; Schreiber, Curtis; Schulz, Paul E; Soria, Jose; Weisman, David; Frech, Feride; Jones, Daryl Rhys
INTRODUCTION/UNASSIGNED:To ensure Alzheimer's disease-modifying treatments can be initiated in diverse populations, efficient pathways to obtain timely diagnoses are required. METHODS/UNASSIGNED:This interim sub-analysis of a multicenter US study included cross-sectional surveys and interviews with neurologists at 12 diverse sites to assess real-world lecanemab use. RESULTS/UNASSIGNED:testing to inform risk/benefit decisions. Infusions usually started within 6 months of diagnosis. Delayed/incomplete referrals were identified as the most significant barrier in the current patient pathway. DISCUSSION/UNASSIGNED:These findings demonstrate the feasibility of lecanemab integration in diverse clinical settings and highlight the importance of primary care physician engagement, optimization of referral pathways, and expanding BBM use in improving timely diagnosis, equitable access, and early treatment initiation.
PMCID:13239401
PMID: 42255964
ISSN: 2352-8729
CID: 6048082
Machine Learning-Based Prediction of Independent Ambulation Following Intramedullary Spinal Cord Tumor Resection
Perdikis, Blake; Palla, Adhith; Goff, Nicolas K; Khan, Hammad A; Rai, Sumedha; Budimlija, Zoran; Lau, Darryl; Frempong-Boadu, Anthony; Laufer, Ilya
BACKGROUND AND OBJECTIVES/OBJECTIVE:Intramedullary spinal cord tumor (IMSCT) resection carries a high risk of postoperative neurological deficit because of neural tract manipulation and myelotomy. Although short-term and long-term neurological recovery represent key treatment outcomes, current prognostication methods are lacking and would benefit from further complex analysis. METHODS:From March 2009 to August 2025, all adult IMSCT resections at our institution were reviewed. Demographic, oncologic, and perioperative data were extracted from electronic medical records. This included preoperative and follow-up neurological examination data in the form of American Spinal Injury Association Impairment Scale (AIS) grading, Modified McCormick Scale (MMCS), and ambulatory status. Independent ambulation served as the primary outcome for 4 machine learning models. Each model was sequentially evaluated using area under the receiver operating characteristic curve (AUROC). RESULTS:Fifty-four patients underwent 55 surgeries for IMSCT resection. Encapsulated lesions predominated IMSCT pathology, with grade II ependymoma comprising 28 (50.9%) resections, 5 hemangioblastomas (9.1%), and 5 cavernous hemangiomas (9.1%). Gross total resection was achieved in 36 cases (65.5%), with encapsulated tumors more readily achieving gross total resection vs unencapsulated (84.6% vs 18.8%, P < .01). By 4 weeks, conversion of MMCS, but not AIS grade, significantly correlated with concurrent ambulatory conversion (P < .01 vs P = .15). At 6 months, both AIS grade conversion (P < .01) and MMCS conversion (P < .01) significantly correlated with ambulatory conversion. For predicting ambulation at latest follow-up from 4 weeks postoperatively, the comprehensive granular model achieved an AUROC of 0.833, outperforming the AIS grade (0.583), American Spinal Injury Association Motor Score (0.667), and MMCS (0.667) models. By the 6-month follow-up, the comprehensive granular model achieved strong discrimination (AUROC 1.00). CONCLUSION/CONCLUSIONS:Follow-up IMSCT data demonstrate a postoperative lability that stabilizes by 6 months into a reliably modeled outcome. By enhancing the granularity of recovery data, accurate independent ambulation modeling may improve counseling for patients with IMSCT.
PMID: 42240329
ISSN: 1524-4040
CID: 6044392
Perspective/short review: Mandatory intraoperative neurological monitoring (IONM) for thoracic ossification of the posterior longitudinal ligament (OPLL)
Epstein, Nancy E; Agulnick, Marc A
BACKGROUND/UNASSIGNED:Intraoperative Neural Monitoring (IONM) is mandatory for performing anterior (i.e., transthoracic) or lateral extracavitary approaches to significant anterior/anterolateral thoracic ossification of the posterior longitudinal ligament (TOPLL) (i.e. often misdiagnosed as calcified Thoracic Disc Herniations) (TDH). Notably, the remaining "posterior procedures" (i.e. laminectomy, transpedicular, and costotransversectomy) are contraindicated for treating significant anterior/anterolateral TOPLL as they result in unacceptably high frequencies of spinal cord injury (SCI) typically correlated with significant intraoperative IONM losses. METHODS/UNASSIGNED:A review of multiple studies documented that IONM (i.e. especially Tc-MEP (Transcranial Motor Evoked Potentials)) is mandatory when performing anterior transthoracic or lateral extracavitary approaches to TOPLL. This is because IONM alerts signaling the onset of SCI may likely be remediated (i.e. minized vs. limited) utilizing appropriate resuscitative maneuvers. Alternatively, extremely high frequencies of significant IONM losses occurring with "posterior procedures" carried a much higher risk of permanent/irreversible neurological injury. RESULTS/UNASSIGNED:Multiple studies documented that IONM should be used with anterior transthoracic or lateral extracavitary approaches to anterior/anterolateral TOPLL surgery, and that "posterior procedures" were largely contraindicated. In one series, significant amplitude Tc-MEP losses occurred in 73% of posterior decompressions; 39% developed Tc-MEP amplitude losses, that correlated with new SCI. In another study of 249 TOPLL patients undergoing "posterior only operations", 50 developed new significant IONM alerts (i.e. of deterioration); only 40% (20/50) were successfully resuscitated. Overall, initiating immediate resuscitative maneuvers in response to IONM occurring during various types of TOPLL surgery can avert SCI in up to 10.4%, to 40%, to 57% of cases. CONCLUSION/UNASSIGNED:IONM is mandatory for anterior/anterolateral TOPLL surgery utilizing anterior transthoracic or lateral extracavitary approaches.
PMCID:13224157
PMID: 42232422
ISSN: 2229-5097
CID: 6043942
An examination of the influence of prefrontal cortical brain stimulation on sexual decision making
Shaw, Michael T; Cingranelli, Leah; Kobryn, Simona; Tavarez, Isabella; Torres-Aragón, Alberto; Balderrama-Durbin, Christina M; Gibb, Brandon E; Charvet, Leigh E; Mattson, Richard E
The goal of this study was to clarify the contribution of prefrontal cortex activity to men's appraisals, affect states, and decision making in the context of hypothetical heterosexual dating scenarios lacking clear consent. Transcranial direct stimulation (tDCS) was applied to the prefrontal cortex to examine whether it would modify and reduce the likelihood of hypothetical dating violence. Participants (n = 102) responded to first-person vignettes wherein a woman responded either ambiguously or with a refusal to their sexual advance. While responding to the vignettes, participants received sham or active tDCS to modulate prefrontal cortex-mediated responding. Neuromodulation interacted with the communication response type of the woman in the vignette (e.g. ambiguous vs. refusal responses) to influence participants' reports of negative affect (F = 9.57, P = 0.002, Cohen's f2
PMCID:13225266
PMID: 42232253
ISSN: 2753-149x
CID: 6043932
Essential genetic testing in movement disorders - results from a Delphi study
Carvalho, Vanessa; Guedes, Leonor Correia; Gatto, Emilia; Rodriguez-Violante, Mayela; Klein, Christine; Rodriguez-Porcel, Federico; Morgante, Francesca; Rossi, Malco; Miranda, Marcelo; Ganos, Christos; Riboldi, Giulietta M; Cesarini, Martin; Darling, Alejandra; Skorvanek, Matej; van de Warrenburg, Bart; Shalash, Ali; Cossu, Giovanni; Friedman, Jennifer; Albanese, Alberto; Cardozo, Adriana; Lohmann, Katja; Thaler, Avner; Stamelou, Maria; Saunders-Pullman, Rachel; Marras, Connie; Sarva, Harini; Bhatia, Kailash P; Ferreira, Joaquim J
BACKGROUND:While genetic testing in Movement Disorders (MD) has expanded enormously, access to genetic testing and genetic counseling remains asymmetric at the global scale. Guidance on efficient testing strategies for clinicians, governments and stakeholders is crucial. OBJECTIVES/OBJECTIVE:Establish a list of genetic movement disorders considered essential as determined by a group of MD experts. METHODS:All genes associated with MD were searched using the OMIM and MDS Gene database. We collected all additional tests available at 4 different laboratories from the EuroGentest database. The results were compiled in 6 questionnaires. A genetic test was considered essential if molecular testing had a direct impact in the management of the patient, including treatment of the disease or its comorbidities, or genetic counseling of the patient and family members. Two Delphi rounds were conducted asking MD experts which specific tests they considered essential in an adult MD clinic. RESULTS:Fifty-nine disorders were considered essential to genetically identify by the MD experts. This included 25 genes associated with ataxia, 15 with parkinsonism, 14 with dystonia, eight with chorea, five with paroxysmal disorders, four with myoclonus, four with hereditary spastic paraparesis, and one with tremor. Sixteen disorders reached 100% consensus among experts: Huntington's disease, PxMD-PPRT2, Wilson's disease, DYT-SGCE, DYT-THAP1, DYT-TOR1A, DYT/PARK-GCH1, Fragile-X Tremor-ataxia syndrome, PARK-GBA, PARK-LRRK2, PARK-PINK1, PARK-PRKN, PARK-SNCA, Cerebrotendinous Xanthomatosis, Ataxia-Telangiectasia, and Niemann-Pick disease type C. CONCLUSION/CONCLUSIONS:This study provides a list of genetic MD that should be molecularly tested in adult centers with a compatible phenotype according to a group of MD experts.
PMID: 42202611
ISSN: 1873-5126
CID: 6043172
Add-on treatment with vinpocetine reduces seizure frequency and improves comorbidities in patients with loss-of-function γ-aminobutyric acid type A receptor variants
Gjerulfsen, Cathrine E; Liao, Vivian W Y; Mieszczanek, Tomasz S; Jakobsen, Anne V; Gardella, Elena; Olofsson, Kern; Nikanorova, Marina; Bayat, Allan; Ortiz, Sebastian; Weckhuysen, Sarah; Landmark, Cecilie Johannessen; Devinsky, Orrin; Chebib, Mary; Ahring, Philip K; Rubboli, Guido; Møller, Rikke S
OBJECTIVE:receptor-related epilepsies. Here, we extend these observations with a retrospective observational study evaluating the response to vinpocetine in an additional seven patients. METHODS:Patients initiated treatment with vinpocetine between 2018 and 2025 at the Danish Epilepsy Centre or abroad. Clinical data were collected from medical records, seizure diaries, and neuropsychological assessments. The modulatory efficacy of vinpocetine was investigated using electrophysiological studies. RESULTS:receptor LoF variants were given add-on vinpocetine treatment. Electrophysiological analyses confirmed dose-dependent positive modulation by vinpocetine across tested variants. Six patients with a median age of 15.5 years (range = 6-29) continued treatment for a median of 24 months (range = 12-90), whereas three discontinued due to adverse effects (AEs) or lack of efficacy. The patients' level of function ranged from normal to moderate intellectual disability, psychiatric comorbidities, and behavioral disturbances. Four patients initiated vinpocetine due to uncontrolled seizures. One became seizure-free, and two experienced a 50%-55% reduction. Electroencephalograms demonstrated improved spike-wave indexes in four patients. Six showed improvement in nonseizure factors, and caregivers reported reduced aggressivity and better vocabulary in one. Vinpocetine was well tolerated, with only mild and reversible AEs reported. SIGNIFICANCE/CONCLUSIONS:receptor-related epilepsies, which should be investigated further in future N-of-1 trials.
PMID: 42227896
ISSN: 1528-1167
CID: 6043692
Markerless 3D hand tracking for analysis of pediatric eye-hand coordination
Rajkumar, Anjali; Gadde, Rajvardhan; Beheshti, Mahya; Sukhov, Renat; Rizzo, John-Ross; Hudson, Todd E
Precise quantification of eye-hand coordination (EHC) during pediatric dexterity tasks is limited by the lack of practical, high-resolution hand tracking methods suitable for children with brain injury or neurodegenerative disease. Traditional marker-based motion capture systems and instrumented gloves can interfere with natural grasp patterns and are often difficult to implement in clinical pediatric settings. We describe an adaptation of the Anipose markerless 3D pose estimation framework to enable synchronized three-dimensional hand kinematics and eye tracking during the Nine-Hole Peg Test (9HPT). The method integrates multi-camera video acquisition with task-specific neural network training optimized to detect fine finger movements across diverse pediatric hand sizes and grasp configurations. Camera placement and recording geometry were configured to reduce occlusion during peg manipulation and maintain multi-view visibility of hand landmarks. Model validation demonstrated low pixel error and stable three-dimensional reconstruction following confidence-based thresholding. The resulting workflow generates synchronized 2D and 3D visualizations, spatial coordinate outputs, reprojection-error metrics, and landmark confidence scores without requiring wearable sensors. This approach broadens the applicability of eye-hand coordination research within pediatric clinical populations and facilitates the development of more precise, quantitatively informed diagnostic assessments and targeted neurorehabilitation strategies for children with neurologic injury. • Markerless multi-camera 3D reconstruction of pediatric hand kinematics during the 9HPT • Integration of synchronized eye tracking and task-specific neural network training • Output of validated 3D coordinates, confidence metrics, and visualization files suitable for clinical research.
PMCID:13231014
PMID: 42244785
ISSN: 2215-0161
CID: 6044592
Addressing the needs of nano-rare patients: the n-Lorem experience
Crooke, Stanley T; Glass, Sarah; Gleeson, Joseph G; Mignon, Laurence; Skourti-Stathaki, Konstantina; Douville, Julie; Knutsen, Megan; Pu, He; Bain, Jennifer M; Berry-Kravis, Elizabeth; Shneider, Neil A; Kim-McManus, Olivia; Eichler, Florian S; Chung, Wendy K; Nagy, Amanda; Kaufmann, Horacio; Gonzalez-Duarte, Alejandra; Oskarsson, Björn; McCourt, Emily A; Leung, Nelson
Patients with extremely rare pathogenic variants pose unique challenges to current healthcare systems. Nano-rare mutations have been defined as mutations with a known prevalence of <30 patients worldwide, but because of the small fraction of humans who have undergone genetic testing, neither the precise prevalence of individual mutations nor the total prevalence of patients with nano-rare mutations is known. n-Lorem is a non-profit founded in 2020 with the mission of equitably discovering, developing, and providing bespoke experimental antisense oligonucleotides (ASOs) for free, for life, to patients with nano-rare mutations that are amenable to ASO treatment. In this perspective, we provide an overview of the n-Lorem processes and systems, the characteristics of the first 329 patients who have applied for treatment for whom initial assessment was completed and suitability for ASO treatment determined, and a summary of the results of ASO treatment for patients treated to date. Detailed data on individual patients and the overall clinical safety and tolerability profiles of the ASOs for which there are clinical data are the subjects of other manuscripts.
PMCID:13227102
PMID: 42227334
ISSN: 1362-4962
CID: 6043682
Review/Short Perspective: "Never Events" likely never occur without a breach in the standard of care (SOC) while "Near Never Events" are typically not far behind
Epstein, Nancy E; Agulnick, Marc A
BACKGROUND/UNASSIGNED:"Never Events" (<1/1000) likely never occur without a breach in the standard of care (SOC), while "Near Never Events" (<1/100) are typically not far behind. METHODS/UNASSIGNED:"Never Events" are described as "Harmful hospital-acquired conditions that the Center for Medicare and Medicaid Services identified in 2008." Here, we focused on wrong-site spine surgery (WSSS)/wrong-level spine surgery (WLSS), 3 select cases of Caspar Distraction Screws causing hematomas, and one medicolegal case involving multiple simultaneous "Never Events." RESULTS/UNASSIGNED:The spine literature documented the following frequencies of wrong-site spine surgery WSSS/"Never Events" as occurring in 4.5/10,000 lumbar, 6.8/10,000 cervical, and 2.2/10,000 cranial procedures; other series focused on the incidence of wrong-level spine surgery (WLSS). Three "Never Events" consisting of cervical epidural hematomas were attributed to Caspar Distraction Screws. A medicolegal case is also presented in which a spine surgeon caused multiple simultaneous "Never Events" (i.e., ipsilateral surgical errors) during an anterior cervical fusion. Finally, the definition of "Never Events" was newly expanded to better assess "Near Never Events", as the latter applied to varied frequencies of esophageal perforations, plate/screw migration/erosions/displacement, cerebrospinal fluid leaks, infection, and other factors. CONCLUSION/UNASSIGNED:"Never Events" (<1/1000) likely never occur without a breach in the SOC, while "Near Never Events" (<1/100) are typically not far behind.
PMCID:13224216
PMID: 42232425
ISSN: 2229-5097
CID: 6043952