Search

Introduction: The prevalence of epilepsy in sub-Saharan Africa varies considerably, and the exact estimate for Ghana remains unclear, particularly in peri-urban areas where data are scarce. More community-based studies are required to understand better the actual burden of epilepsy in these areas and the difficulties in accessing healthcare. Objective: To adapt and validate a household survey epilepsy-screening instrument in Shai-Osudoku and Ningo-Prampram District of Greater Accra Region, Ghana. Methods: We developed a 17-item epilepsy screening instrument by modifying previously validated English language questionnaires. We included questions that could identify convulsive and non-convulsive seizures. Language experts forward- and back-translated the questionnaires into the two languages: Asante Twi and Dangme. Cases were people with confirmed epilepsy attending healthcare facilities where these languages are used. Controls were unaffected relatives of cases or people attending the same healthcare facilities for other medical conditions. We matched cases and controls for geographical location and ethnicity. An affirmative response to one of the seventeen questions by a participant was deemed a positive screen. The questionnaires were divided into two stages. The first stage consisted of broader, more general questions aimed at identifying potential cases of epilepsy. The second stage involved a more detailed and focused set of questions administered to those who screened positive in the first stage. Results: One hundred and forty Dangme speakers (70 cases and 70 controls) and 100 Asante Twi speakers (50 cases and 50 controls) were recruited. The sensitivity and specificity for Dangme were: Stage 1, 100% and 80%, and Stage 2, 98.6% and 85.7%. The Dangme version reliably identified epilepsy with positive predictive values of 83.3% and 87.3% at stages 1 and 2. The questionnaire excluded epilepsy with 100% and 98.4% negative predictive values. For the Asante Twi version, the sensitivity and specificity were 98% and 92% (95% at Stage 1, and for Stage 2, 96% and 94%. The Asante Twi questionnaire reliably specified epilepsy with positive predictive values of 92.5% and 94.1% at stages 1 and 2. It excluded epilepsy with negative predictive values of 97.9% and 95.9% for the two stages Conclusions: Our questionnaire is valid for the two languages and usable for community-based epilepsy surveys in Ghana. It can also be adapted for other resource-poor settings, although translation and iterative in-country testing will be needed to ensure its validity. [ABSTRACT FROM AUTHOR]

Advances in genomic technologies have revolutionized the diagnosis of rare genetic diseases, leading to the emergence of precision therapies. However, there remains significant effort ahead to ensure the promise of precision medicine translates to improved outcomes. Here, we discuss the challenges in advancing precision child health and highlight how international collaborations such as the International Precision Child Health Partnership, which embed research into clinical care, can maximize benefits for children globally., Competing Interests: Competing interests: K.B.H. has received research funding from UCB Australia, Praxis Precision Medicines and RogCon Biosciences, Inc., has served on an advisory board for UCB Australia, and is a member of the Scientific and Medical Board for SCN2A Asia-Pacific. N.C.A. is on the Boards of Directors of Novartis, Charles River Laboratories and Maze Therapeutics, and the Scientific Advisory Board of Dyne Therapeutics. A.H.B. has received consulting fees from Astellas Gene Therapies, GLG Inc., Guidepoint Global, and F. Hoffman-La Roche, is on the Scientific Advisory Board of Kate Therapeutics, and holds equity in Kate Therapeutics and Kinea Bio. J.H.C. has acted as an investigator for studies with GW Pharma/Jazz Pharmaceuticals, Zogenix/UCB Pharma, Vitaflo, Stoke Therapeutics, and Ultragenyx. She has been a speaker and on advisory boards for Jazz Pharmaceuticals, UCB, Biocodex, and Nutricia; all remuneration has been paid to her department. J.C. is a member of the Drug Monitoring and Safety Board for Anavex Life Sciences Corp, the Endpoint Adjudication Committee for Taysha Gene Therapies, the Scientific and Medical Advisory Committees of the Childhood Dementia Initiative and the Rett Syndrome Association of Australia, and is the director of the Mito Foundation of Australia. S.W.S. served on the scientific advisory committee of Population Bio, Deep Genomics and intellectual property from his research held at the Hospital for Sick Children and licensed to Athena Diagnostics and Population Bio. S.W.S., R.D.C., and C.R.M. are Editors or Editorial Board Members of npj Genomic Medicine; they were not part of the peer review or decision-making processes for this manuscript. S.M.W., A.McT., A.M.D., G.C., A.P., I.E.S., V.C., L.D.S., S.E.M.S., M.W., A.D., N.S., P.S., L.S.C., and K.N.N. report no competing interests., (© 2025. The Author(s).)

Developmental and epileptic encephalopathies (DEEs) are the most severe group of epilepsies, characterized by drug-resistant seizures and developmental slowing or regression. DEEs encompass many epilepsy syndromes, although not all patients with a DEE can be classified into a specific syndrome. Our understanding of the etiologies of DEEs has been revolutionized with next-generation sequencing, with more than 900 genes implicated, in addition to structural causes. It is therefore now possible to consider precision medicine and novel therapeutic approaches for these devastating diseases with trials of repurposed and new drugs, including gene therapies. Trials are being designed to target either DEE diseases more broadly, specific DEE syndromes, or specific genetic DEEs. To serve this purpose, a clear operational definition of DEEs is needed to ensure that appropriate patients are selected for trials with precisely defined, targeted outcome measures. Herein we propose the operational definition of DEEs to set the stage for the development of DEE therapies., (© 2025 The Author(s). Epilepsia published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)

Importance: A leading cause of surgically remediable, drug-resistant focal epilepsy is focal cortical dysplasia (FCD). FCD is challenging to visualize and often considered magnetic resonance imaging (MRI) negative. Existing automated methods for FCD detection are limited by high numbers of false-positive predictions, hampering their clinical utility., Objective: To evaluate the efficacy and interpretability of graph neural networks in automatically detecting FCD lesions on MRI scans., Design, Setting, and Participants: In this multicenter diagnostic study, retrospective MRI data were collated from 23 epilepsy centers worldwide between 2018 and 2022, as part of the Multicenter Epilepsy Lesion Detection (MELD) Project, and analyzed in 2023. Data from 20 centers were split equally into training and testing cohorts, with data from 3 centers withheld for site-independent testing. A graph neural network (MELD Graph) was trained to identify FCD on surface-based features. Network performance was compared with an existing algorithm. Feature analysis, saliencies, and confidence scores were used to interpret network predictions. In total, 34 surface-based MRI features and manual lesion masks were collated from participants, 703 patients with FCD-related epilepsy and 482 controls, and 57 participants were excluded during MRI quality control., Main Outcomes and Measures: Sensitivity, specificity, and positive predictive value (PPV) of automatically identified lesions., Results: In the test dataset, the MELD Graph had a sensitivity of 81.6% in histopathologically confirmed patients seizure-free 1 year after surgery and 63.7% in MRI-negative patients with FCD. The PPV of putative lesions from the 260 patients in the test dataset (125 female [48%] and 135 male [52%]; mean age, 18.0 [IQR, 11.0-29.0] years) was 67% (70% sensitivity; 60% specificity), compared with 39% (67% sensitivity; 54% specificity) using an existing baseline algorithm. In the independent test cohort (116 patients; 62 female [53%] and 54 male [47%]; mean age, 22.5 [IQR, 13.5-27.5] years), the PPV was 76% (72% sensitivity; 56% specificity), compared with 46% (77% sensitivity; 47% specificity) using the baseline algorithm. Interpretable reports characterize lesion location, size, confidence, and salient features., Conclusions and Relevance: In this study, the MELD Graph represented a state-of-the-art, openly available, and interpretable tool for FCD detection on MRI scans with significant improvements in PPV. Its clinical implementation holds promise for early diagnosis and improved management of focal epilepsy, potentially leading to better patient outcomes.

Objectives: TAD > 25 mm is a risk factor for cut-out in intramedullary nailing. Less attention has been given to the risk factors for central cut-through and the possible outcomes of TAD <10 mm. Furthermore, the risk of cut-through depending on minimum depth on either anterior-posterior (AP) or lateral views has not been explored. The goal of this study is to outline the parameters that increase risk of cut-through in intertrochanteric hip fractures., Methods: A retrospective review of 2128 intertrochanteric hip fractures admitted to a single level 1 academic trauma center from 2014 - 2023 was conducted. Variables included patient and operative characteristics, fracture fixation device, fracture type based on OTA/AO 2018 classification, TAD, neck-shaft angle and radiographic and clinical outcomes., Results: TAD <10 millimeters carried a significantly higher risk for lag screw and blade cut-through. Cut-through risk increased significantly when either AP or lateral apex-to-center distance was <4 millimeters, including when comparing fracture reduction quality for a cohort including sliding hip screws, lag screws and blades. Cut-out complications in this cohort only occurred with a TAD >10 mm and was significantly more likely to occur with TAD >25 mm, similar to prior studies., Conclusion: TAD optimization between 10 and 25 mm reduces risk of both cut-out and cut-through and maintenance of 4 mm of distance between apex-to-center distance may help decrease the risk of cut-through complications., Competing Interests: Declaration of competing interest None., (Copyright © 2025. Published by Elsevier Ltd.)

Purpose: To review candidate outcome measurement instruments (OMIs) for the core outcome set (COS) for brachial plexus injury (BPI) and identify those with the strongest measurement properties., Methods: We conducted a PRISMA-compliant systematic review to identify studies on the measurement properties of domain-specific OMIs for adult BPI. OMIs with adequate content validity were further evaluated. Two independent reviewers assessed the methodological quality of each study using the COSMIN Risk of Bias checklist and assessed overall quality using a modified GRADE approach., Results: Nineteen development/validation studies concerning nine OMIs were identified. The Brachial Assessment Tool (BrAT) and the Impact of Brachial Plexus Injury Questionnaire (IMBPIQ) (both measuring carrying out daily routine) had sufficient content validity to proceed to full evaluation. The BrAT had moderate quality evidence to support its psychometric properties. The IMBPIQ needs further research to evidence structural validity and internal consistency. The Brief Pain Inventory has strong psychometric properties in other populations and is recommended for the core measurement set (CMS) for chronic pain., Conclusions: The BrAT and the Brief Pain Inventory are recommended for inclusion in the BPI CMS. Further consensus work is needed to identify the most appropriate OMI for voluntary movement., Systematic Review Registration: PROSPERO (CRD42022307564).

Background: Variations in neonatal aciclovir prescribing for suspected herpes simplex virus (HSV) disease are well-known, but there are limited data describing aciclovir prescribing in older children., Methods: Medical records of neonates (≤28 days) and children (29 days to 18 years) prescribed intravenous aciclovir for suspected HSV disease (1 January 2019-12 December 2019) in eight Australian and New Zealand hospitals were reviewed. Prescribing indication, HSV testing, aciclovir prescription details, adverse events and discharge diagnosis were recorded., Results: 1426 received empirical aciclovir. For neonates (n = 425), the median duration was 1 day (IQR 1-3), 411/425 underwent HSV investigations and 13/425 had HSV disease (two with disseminated encephalitis, four with encephalitis and seven with skin, eye, mouth disease). Of the 1001 children, 906 were immunocompetent. 136/906 suspected of mucocutaneous disease received aciclovir for a median of 2 days (1-2), 121/136 underwent HSV testing, and 69/136 had proven disease. 770/906 received aciclovir for suspected disseminated disease or encephalitis for a median of 1 day (1-2), 556/770 underwent HSV testing, and 5/770 had disseminated disease or encephalitis. Among 95 immunocompromised children, 53/58 with suspected mucocutaneous disease had HSV testing and this was confirmed in 22. Disseminated disease or encephalitis was suspected in 37/95, HSV testing conducted in 23/37 and detected in one. The median aciclovir duration was 3 (2-7) days for immunocompromised children. Nephrotoxicity occurred in 7/1426 and 24/1426 had an extravasation injury., Conclusion: Frequent and often unnecessary intravenous aciclovir prescribing for suspected HSV encephalitis or disseminated disease occurred in children, as evidenced by incomplete HSV investigations and only 5/770 older children having the diagnosis confirmed., (© The Author(s) 2024. Published by Oxford University Press on behalf of British Society for Antimicrobial Chemotherapy. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)

Objective: Neurosurgeons have long held financial relationships with pharmaceutical and surgical device companies. While industry partnerships drive innovation, there is concern that these collaborations may negatively influence patient care. In response, stakeholders have called for increased monitoring of these relationships. This study aims to provide an up-to-date review of the industry payments to neurosurgeons and how COVID-19 has impacted these payments., Methods: A retrospective study was performed using data from the Center of Medicare and Medicaid Services Open Payments Database (1/1/19-12/31/23). Neurosurgeons were identified using the taxonomy code, 207T00000X. Data collected included the number of payments, purpose, total value, and mean value per year., Results: From 2019 to 2023, 362,270 industry payments were made to 7,846 unique neurosurgeons for a total of $479,072,106. The most common types of payments were for food and beverage (72.7 %), travel and lodging (15.2 %), consulting fees (5.85 %), royalties and licensing (3.02 %), and services other than consulting (1.86 %), while the largest contributors to total payment value were payments for royalties and licensing (57.6 %), consulting fees (14.5 %), acquisitions (12.8 %), services other than consulting (5.00 %), and travel and lodging (3.89 %). Overall, the total amount paid to neurosurgeons decreased during the COVID-19 years (2020-2021) compared to 2019 but rose again in 2022., Conclusion: Neurosurgeons maintain an active financial partnership with industry. Similar to prior reports, payments related to product development comprised the majority of payment value, while payments for food and beverage were the most common. The years of COVID-19, particularly 2020, had a substantial impact on the number, value amount, and subcategory distribution of industry payments made to neurosurgeons. Future investigations of these financial ties on practice, research, and innovation are warranted., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2025 Elsevier Ltd. All rights reserved.)

Lennox-Gastaut syndrome (LGS) is a severe developmental and epileptic encephalopathy (DEE) characterized by multiple types of drug-resistant seizures (which must include tonic seizures) with classical onset before 8 years (although some cases with later onset have also been described), abnormal electroencephalographic features, and cognitive and behavioral impairments. Management and treatment of LGS are challenging, due to associated comorbidities and the treatment resistance of seizures. A panel of five epileptologists reconvened to provide updated guidance and treatment algorithms for LGS, incorporating recent advancements in antiseizure medications (ASMs) and understanding of DEEs. The resulting consensus document is based on current evidence from clinical trials and clinical practice and the panel's expert opinion, focusing on new ASMs with novel mechanisms of action, such as highly purified cannabidiol and fenfluramine. For a patient presenting with newly diagnosed LGS or suspected LGS, the recommended first-line treatment continues to be valproate. If this is ineffective as monotherapy, adjunctive therapy with, firstly, lamotrigine and secondly, rufinamide, is recommended. If seizure control remains suboptimal, subsequent adjunctive ASM treatment options include (alphabetically) cannabidiol, clobazam, felbamate, fenfluramine, and topiramate, although evidence for these is more limited. Whenever possible, no more than two ASMs should be used together. Nonpharmacological treatment approaches should be used in conjunction with ASM therapy and include ketogenic diet therapies, vagus nerve stimulation, and corpus callosotomy. Patients with LGS that has evolved from another type of epilepsy who are not already being treated with valproate should be transitioned to valproate and then managed using the same algorithm as for newly diagnosed LGS. Older patients with established LGS should be reviewed at least annually by a suitably experienced neurologist. The revised guidance aims to improve seizure control and quality of life for patients with LGS through personalized, evidence-based treatment strategies while addressing the challenges of accurate diagnosis and management in a rapidly evolving therapeutic landscape. PLAIN LANGUAGE SUMMARY: Lennox-Gastaut syndrome (LGS) is a severe type of epilepsy that usually starts in childhood but continues into adulthood. It is characterized by a variety of different types of seizures (abnormal electrical activity in the brain), which are difficult to treat and often cause people with the condition to fall and injure themselves. Most people with LGS have learning difficulties and need a lot of support, often in residential care. The authors are experts in treating people with LGS and this article provides up-to-date guidance and advice on how best to care for those with the condition., (© 2024 The Author(s). Epilepsia Open published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)

The interaction between basic science epilepsy researchers and clinical epileptologists is a longstanding issue. Efforts to provide opportunities for a dialogue between preclinical and clinical epilepsy professionals are crucial to reduce the knowledge gap between them and improve the translational success of neurobiology-based research. The International League Against Epilepsy (ILAE) Research and Innovation Task Force circulated a survey to investigate the need for an update on new clinical epilepsy concepts within the basic science community. The 336 respondents included basic scientists (BS), preclinical scientists (PCSs), and/or clinical scientists (CSs). The majority of the 237 BSs/PCSs were engaged in preclinical studies in translational epilepsy research and declared translational research as a priority research interest. Fewer respondents from low-middle-income countries than from upper-middle or high-income countries (40.7% vs 65%) considered translational research a critical aspect of their research. A broad understanding of both clinical and neurobiological aspects of epilepsy was declared by 48% of BSs/PCSs; 96% of CSs declared a superficial knowledge of neurobiology of epilepsy. Most BSs/PCSs were aware that epilepsy is a complex condition that should be investigated with the help of clinical epileptologists, even though concerns were expressed on the relationship with clinicians. A focused training program on emerging clinical epileptological aspects tailored for BSs/PCSs was recommended by 81% of the participants; the majority of respondents preferred either 1- or 2-week in-presence tutoring or continuous online training coordinated by ILAE at the regional/national level. The survey also underscored the value of educational programs on neurobiology of epilepsy targeting CSs and low-middle-income countries (LMIC) investigators., (© 2024 The Author(s). Epilepsia published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)