Neurology. Clinical practice最新文献

{"title":"Quality Improvement Initiative to Implement Anxiety Screening for Children and Teens With Headache and Epilepsy.","authors":"Christina Murphy, Sara E Molisani, Amanda C Riisen, Carinna M Scotti-Degnan, Dina Karvounides, Stephanie Witzman, Michael C Kaufman, Alexander K Gonzalez, Mark Ramos, Christina L Szperka, Nicholas S Abend","doi":"10.1212/CPJ.0000000000200458","DOIUrl":"10.1212/CPJ.0000000000200458","url":null,"abstract":"<p><strong>Background and objectives: </strong>We conducted a quality improvement initiative to implement standardized screening for anxiety among adolescents with headache and/or epilepsy receiving outpatient neurology care at a quaternary health care system, consistent with recommendations from the American Academy of Neurology. Our SMART (Specific, Measurable, Achievable, Relevant, and Time-Based) aim was to screen ≥90% of established patients aged 12 years or older seen by a participating health care professional using a standardized anxiety screener by February 2024.</p><p><strong>Methods: </strong>This initiative was conducted in patients seen for follow-up by 17 participating neurology health care professionals. Health care professional opinions were assessed before and after implementation of the Generalized Anxiety Disorder-7 (GAD-7), administered as a previsit questionnaire distributed using the electronic health record. The integrated workflow included a best practice advisory (BPA) alert that permitted easy access to interventions and automatic population of education materials into the after-visit summary. After 12 months of use (March 2023 to February 2024), we assessed demographic and diagnostic information, GAD-7 completion rates, anxiety symptom severity, BPA utilization, and health care professional acceptance of the intervention.</p><p><strong>Results: </strong>The GAD-7 was completed for 64% of 3,671 encounters and by 71% of 2031 unique patients. The GAD-7 was more often completed for encounters if the patient was female, younger, or White or had a headache diagnosis. Among unique patients, anxiety symptoms were minimal in 50%, mild in 24%, moderate in 17%, and severe in 10%. Severe anxiety symptoms were more often present in female patients or those with a headache diagnosis. Among patients with severe anxiety symptoms, 66% had established behavioral health care plans and, for remaining patients, referrals were made to community behavioral health care professionals (11%), or pediatric psychologists (4%) or social workers (3%) within neurology. Clinicians indicated that the approach was easy to use and improved the quality of patient care.</p><p><strong>Discussion: </strong>We implemented standardized EHR-based screening for anxiety symptoms for pediatric neurology patients, most of whom had headache or epilepsy. Screening was feasible, and approximately one-quarter of patients had moderate or severe anxiety symptoms. Future work will focus on improving completion rates of previsit questionnaires including the GAD-7 and optimizing clinician actions based on the screening data.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"15 3","pages":"e200458"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11962050/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143780716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Malignancy Workup in Cryptogenic Stroke: A Survey of Canadian Stroke and Thrombosis Experts.","authors":"Laurence Poirier, Deborah M Siegal, Dominick Bossé, Jamie Brehaut, Brian Dewar, Ronda Lun, Michel Christopher Frank Shamy, Dar Dowlatshahi","doi":"10.1212/CPJ.0000000000200477","DOIUrl":"https://doi.org/10.1212/CPJ.0000000000200477","url":null,"abstract":"<p><strong>Background and objectives: </strong>The diagnostic workup for patients with cryptogenic stroke includes investigating for occult cancer, which is known to increase the risk of stroke. Current guidelines do not provide specific recommendations regarding the optimal approach for occult cancer screening after cryptogenic stroke. We surveyed Canadian stroke and thrombosis physicians to determine current workup preferences for detecting occult cancer after cryptogenic stroke.</p><p><strong>Methods: </strong>We designed and distributed an anonymous online survey targeting physicians who manage patients with cryptogenic stroke through professional memberships of the Canadian Stroke Consortium and Thrombosis Canada. Using 4 clinical scenarios representative of patients with cryptogenic stroke with different ages (younger or older than 50 years) and from both sexes, we asked respondents which tests they routinely recommend when investigating for occult cancer among a list of laboratory investigations, imaging, and procedures. Results were analyzed using descriptive statistics.</p><p><strong>Results: </strong>We received 138 responses to 5 survey questions. The most commonly recommended investigations were complete blood count (79%), creatinine (63%), and coagulation tests (56%), and the most frequently recommended imaging test was CT of the abdomen and pelvis (39%). A minority of respondents indicated they would order guideline-directed age-appropriate cancer screening. Approximately half of surveyed specialists deferred the workup of cancer to a primary care physician, and 12% did not suggest any cancer workup at all.</p><p><strong>Discussion: </strong>This survey of stroke and thrombosis experts found heterogeneity in testing for cancer screening in patients with cryptogenic stroke, with the majority either not screening at all or deferring tests to primary care providers. Our survey highlights the need for better evidence and evidence-based recommendations to guide the approach to cancer screening in this population.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"15 3","pages":"e200477"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12051394/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144040581","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Psychosis in Neurocognitive Disorder Among Ethnoculturally Diverse Older Persons.","authors":"Estevana Isaac, Carolyn Wei Zhu, Monica Rivera Mindt, Albert L Siu, Alex Federman, Kristine Yaffe, Barbara G Vickrey, Jenifer Voeks, Parul Agarwal, Derrick Brooks, Ombolanle Ayo, Mary Sano","doi":"10.1212/CPJ.0000000000200467","DOIUrl":"10.1212/CPJ.0000000000200467","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background and objectives: &lt;/strong&gt;There is longstanding evidence that the presence of psychosis in neurocognitive disorders (NCDs) is associated with faster cognitive and functional decline. The goal of this study was to examine how clinician-diagnosed psychosis differs among ethnoracial groups with NCDs (including early onset) and to explore whether these differences exist even for those without advanced dementia.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Method: &lt;/strong&gt;This is an IRB-approved retrospective analysis. Data are from the National Alzheimer's Coordinating Center Uniform Dataset from 42 Alzheimer's Disease Research Centers. Participants aged 40-95 years as of June 2023 with mild cognitive impairment (MCI) or dementia on baseline evaluation were included. Psychosis was defined as clinician-diagnosed visual or auditory hallucinations or delusions manifesting at the time of baseline evaluation. Ethnoracial groups were self-reported. Associations between ethnoracial groups and psychosis in NCDs were estimated using adjusted multivariable logistic regression with dichotomous measures of outcomes. Covariates included age, sex, years of education, severity of cognitive impairment (Clinical Dementia Rating scale), and presence or absence of any self-reported preexisting psychiatric illness. An analysis by age younger than 65 years was also conducted. Exploratory multivariable logistic regression analyses were performed for participants with milder stages of dementia (Clinical Dementia Rating 0.5 or 1) and for the subset of participants diagnosed with MCI.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;A total of 22,854 participants were included. The mean age was 73 + 9.7 years, and 50% were women. A total of 8,352 (37%) had MCI and 14,502 (63%) had dementia. In adjusted analysis, American Indian/Alaska Native (AI/AN) (OR 2.70, 1.75-4.17, &lt;i&gt;p&lt;/i&gt; &lt; 0.0001), Black-Latino (OR 2.33, 1.25-4.35, &lt;i&gt;p&lt;/i&gt; = 0.0076), Other-Latino (OR 1.82, 1.42-2.33, &lt;i&gt;p&lt;/i&gt; &lt; 0.0001), Black, non-Latino (NL) (OR 1.66,1.47-1.87, &lt;i&gt;p&lt;/i&gt; &lt; 0.0001), and White-Latino (OR 1.42, 1.21-1.67, &lt;i&gt;p&lt;/i&gt; &lt; 0.0001) participants had greater odds of any psychotic symptom than White-NL participants. For age groups 40 to younger than 65 years, only Black-NL participants (OR 1.56, 1.13-2.14, &lt;i&gt;p&lt;/i&gt; = 0.0064) were more likely to be diagnosed with any psychotic symptoms. For milder stages of dementia, Black-Latino (OR 3.44, 1.58-7.48, &lt;i&gt;p&lt;/i&gt; = 0.0018), AI/AN (OR 2.73, 1.66-4.48, &lt;i&gt;p&lt;/i&gt; &lt; 0.0001), Other-Latino (OR 2.38, 1.72-3.30, &lt;i&gt;p&lt;/i&gt; &lt; 0.0001), Black-NL (OR 2.08,1.77-2.45, &lt;i&gt;p&lt;/i&gt; &lt; 0.0001), and White-Latino (OR 1.55, 1.23-1.95, &lt;i&gt;p&lt;/i&gt; = 0.0002) participants had greater odds of psychosis in NCDs when compared with White-NL participants. For MCI alone, there were no significant differences.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Discussion: &lt;/strong&gt;Black-NL, Latino, and AI/AN individuals were more likely to be diagnosed with psychosis in NCDs when compared with White-NL participants. More research is needed to explore s","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"15 3","pages":"e200467"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12048866/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143972742","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Benzodiazepine Initiation and the Risk of Falls or Fall-Related Injuries in Older Adults Following Acute Ischemic Stroke.","authors":"Shuo Sun, Victor Lomachinsky, Louisa H Smith, Joseph P Newhouse, M Brandon Westover, Deborah Lynne Blacker, Lee H Schwamm, Sebastien Haneuse, Lidia M V R Moura","doi":"10.1212/CPJ.0000000000200452","DOIUrl":"10.1212/CPJ.0000000000200452","url":null,"abstract":"<p><strong>Background and objectives: </strong>Benzodiazepine (BZD) use in older adults after acute ischemic stroke (AIS) is common. We aimed to assess the risk of falls or fall-related injuries (FRIs) in older adults after the use of BZDs during the acute poststroke recovery period.</p><p><strong>Methods: </strong>We emulated a hypothetical randomized trial of BZD use during the acute poststroke recovery period using linked data from the Get With the Guidelines Stroke Registry and Mass General Brigham's electronic health records. Our cohort included patients aged 65 years and older with an AIS admission between 2014 and 2021, no documented previous stroke, and no BZD prescriptions in the 3 months before admission. The potential for immortal time and confounding bias was addressed separately using inverse probability weighting.</p><p><strong>Results: </strong>We analyzed data from 495 patients who initiated inpatient BZDs within 3 days of admission and 2,564 who did not. After standardization, the estimate was 694 events per 1,000 (95% CI 676-709) for the BZD initiation strategy and 584 events per 1,000 (95% CI 575-595) for the noninitiation strategy. Subgroup analyses showed risk differences of 142 events per 1,000 (95% CI 111-165) and 85 events per 1,000 (95% CI 64-107) for patients aged 65-74 years and 75 years and older, respectively. Risk differences were 187 events per 1,000 (95% CI 159-206) for patients with minor (NIH Stroke Severity Scale score <math><mrow><mo>≤</mo></mrow> </math> 4) AIS and 32 events per 1,000 (95% CI 10-58) for those with moderate-to-severe AIS.</p><p><strong>Discussion: </strong>Initiating BZDs within 3 days of an AIS is associated with an elevated ten-day risk of falls or FRIs, particularly for patients aged 65-74 years and for those with mild stroke. This underscores the need for caution when initiating BZDs, especially among individuals likely to be ambulatory during the acute and subacute poststroke period.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"15 3","pages":"e200452"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11936338/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143720854","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patient Perspectives on Antiseizure Medication Discontinuation: A Mixed-Methods Exploration of Risk Perception, Tolerance, and Counseling.","authors":"Samuel W Terman, Jordan M Silva, Max Kuster, Jasper Lee, Amanda P Brand, Kara Manuel, Navya Kalia, Micaela Dugan, Marla Reid, Katherine Mortati, Alexandra Tolmasov, Palak S Patel, James F Burke, Arthur C Grant, Chloe E Hill, Susanna S O'Kula","doi":"10.1212/CPJ.0000000000200475","DOIUrl":"10.1212/CPJ.0000000000200475","url":null,"abstract":"<p><strong>Background and objectives: </strong>Antiseizure medications (ASMs) are standard treatment for epilepsy. Yet, because ASMs can have adverse effects, guidelines suggest considering ASM withdrawal after a period of seizure freedom. We explored patients' perceived seizure risk, seizure risk tolerance, and risk counseling techniques.</p><p><strong>Methods: </strong>We interviewed adults at least one-year seizure free, seen for epilepsy across 3 academic institutions. Participants rated their own perceived seizure risks (0 \"definitely would not have another seizure\" to 10 \"definitely would\") <i>on</i> vs <i>off</i> ASMs, discussed what minimal clinically important differences would be to justify ASM continuation, rated how likely they might be to withdraw ASMs (1 \"not at all likely\" to 7 \"extremely likely\") under different hypothetical seizure risks, and recalled their previous seizure risk counseling.</p><p><strong>Results: </strong>The median age (N = 32) was 46 years (interquartile range [IQR] 33-56), with a median of 3 years since their last seizure (IQR 2-11). Participants rated their two-year chance of another seizure <i>on</i> ASMs as a median 1 (IQR 0 to 2) on a \"0-10\" scale, compared with a median 5 (IQR 4 to 7) <i>off</i> ASMs. Participants believed that their current ASMs have a median effectiveness of 9 (IQR 7-10) on a \"0-10\" scale. Participants believed that a median effectiveness of 6 (IQR 4 to 9) on a \"0-10\" scale would warrant remaining on ASMs, although 5 participants would continue their ASM if it extended the time until next seizure by any amount no matter how small. Regarding how likely they would be to withdraw ASMs under different hypothetical seizure risks, median responses on a \"1-7\" scale were 5 (IQR 1-6) when shown two-year seizure risks of 10% <i>on</i> vs 11% <i>off</i> ASMs, 1 (1-3) if 10% vs 20%, and 1 (1-2) if 25% vs 50%. No participant recalled having been presented with numerical seizure estimates regarding possible ASM withdrawal, yet 16 (50%) would like this information particularly in our presented graphical format.</p><p><strong>Discussion: </strong>Participants believed that their ASMs were highly effective and were often reluctant to withdraw. Showing hypothetical seizure risks influenced decisions, and graphical risk communication tools were generally welcomed.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"15 3","pages":"e200475"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12054744/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144064203","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cenobamate Monotherapy for Focal Epilepsy: A Single-Center Retrospective Study.","authors":"Erkam Zengin, Ferhat Erol, Andrea Gil Guevara, Fred Alexander Lado","doi":"10.1212/CPJ.0000000000200460","DOIUrl":"10.1212/CPJ.0000000000200460","url":null,"abstract":"<p><strong>Background and objectives: </strong>Cenobamate is a novel antiseizure medication (ASM) approved by the Food and Drug Administration for use as adjunctive therapy in focal epilepsy. However, there are limited data on its use as a standalone monotherapy. The aim of our study was to investigate the use of cenobamate monotherapy and evaluate its clinical efficacy and safety in treating focal epilepsy.</p><p><strong>Methods: </strong>This single-center retrospective study was conducted on patients who were transitioned to cenobamate monotherapy for more than 6 months at a daily dosage of at least 150 mg. The cohort comprised patients transitioned from monotherapy and those previously on polytherapy with ASMs. Efficacy was based on the seizure freedom and seizure frequency reduction rates between pretreatment and post-treatment with cenobamate while safety was estimated by the reported adverse events.</p><p><strong>Results: </strong>A total of 527 patients were found to use cenobamate as part of their treatment regimen; 45 patients (9%) were transitioned to cenobamate monotherapy and met our predefined criteria. The median follow-up was 14.6 months. Before treatment with cenobamate, 56% were taking one ASM, 33% two ASMs, and 9% three ASMs. The median dose for cenobamate was 250 mg. The mean seizure frequency on cenobamate was reduced from 4.3 to 0.7 per month; the responder rate (50% reduction in seizure frequency) was achieved at 77%, and 55% of the patients remained seizure-free during the 12-month observation period.</p><p><strong>Discussion: </strong>Cenobamate monotherapy was found to significantly reduce seizure frequency and achieve high seizure freedom rates and was well tolerated in patients with focal epilepsy, highlighting its promise as an emerging alternative for patients with refractory focal epilepsy.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"15 3","pages":"e200460"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11966522/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795825","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multicenter Improvement in Screening for Dystonia in Young People With Cerebral Palsy.","authors":"Bhooma Rajagopalan Aravamuthan, Emma J Lott, Esra Pehlivan, Keerthana Chintalapati, Deborah Grenard, Desiree Roge, Rose Gelineau-Morel, Dante Kyle, Christie Becu, Michael C Kruer, Linn Katus, Paul Gross, Amy Bailes","doi":"10.1212/CPJ.0000000000200469","DOIUrl":"10.1212/CPJ.0000000000200469","url":null,"abstract":"<p><strong>Background and objectives: </strong>Dystonia is a common, debilitating, and often treatment-refractory motor symptom of cerebral palsy (CP), affecting 70%-80% of this population based on research assessments. However, routine clinical evaluation for dystonia in CP has failed to match these expected numbers. Addressing this diagnostic gap is a medical imperative because the presence of dystonia rules in or out certain treatments for motor symptoms in CP. Therefore, our objective was to optimize rates of clinical dystonia screening to improve rates of clinical dystonia diagnosis.</p><p><strong>Methods: </strong>Using the quality improvement (QI) infrastructure of the Cerebral Palsy Research Network (CPRN), we developed and implemented interventions to increase the documentation percentage of 5 features of dystonia in young people with CP, aged 3-21 years. This QI initiative was implemented by 7 physiatry and pediatric movement disorders physicians at 4 tertiary-care pediatric hospitals between October 10, 2021, and July 1, 2023. Using a prospective cohort study design, we collected visit data across all participating sites every 2 weeks and tracked our progress using control charts.</p><p><strong>Results: </strong>We assessed 847 unique visits, mostly for established patients (719/847, 85%) who were 9.2 years old on average (95% CI 8.8-9.5). By April 10, 2022, the mean percentage of dystonia screening elements documented across all sites increased from 39% to 90% and the mean percentage of visits explicitly documenting the presence or absence of dystonia increased from 65% to 94%. By October 23, 2022, the percentage of visits diagnosing dystonia increased from 57% to 74%. These increases were all sustained through the end of the study period on July 1, 2023.</p><p><strong>Discussion: </strong>Using a rigorous QI-driven process across 4 member sites of a North American learning health network (CPRN), we demonstrated that we could increase screening for dystonia and that this was associated with increased clinical dystonia diagnosis, matching expected research-based rates. We propose that similar screening should take place across all sites caring for people with CP.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"15 3","pages":"e200469"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12021022/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144005990","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gross Motor Function in Individuals With SCN2A-Related Disorders: The Clinical Trial Readiness Study.","authors":"Anne T Berg, Aaron J Kaat, Katherine Paltell, Ariela J E Kaiser, Amanda Nili, Lindsey Evans, Erica L Anderson, Gerry Nesbitt, Leah S Myers","doi":"10.1212/CPJ.0000000000200479","DOIUrl":"10.1212/CPJ.0000000000200479","url":null,"abstract":"<p><strong>Background and objectives: </strong>SCN2A-related disorders (RDs) are genetic conditions characterized by severe to profound impairments in multiple domains including gross motor function, which could serve as a nonseizure outcome in precision medicine therapy trials. This study evaluated specific properties of the Vineland Adaptive Behavior Scales-3 (VABS3) and other motor assessments for their fitness for use in trials of SCN2A-RDs.</p><p><strong>Methods: </strong>Sixty-five families recruited through the FamileSCN2A foundation enrolled their affected children (\"participants,\" 28 female, median age 6.4 years, interquartile range [IQR] 4.1-10.5) in a 1-year, longitudinal study. Assessments were administered at 0 (study entry), 6, and 12 months. Assessments included the VABS3, Adaptive Behavior Assessment System 0-5 years (ABAS), a modified Functional Mobility Scale (FMS), and the Functional Activities Questionnaire-Walking Level (FAQ-WL).</p><p><strong>Results: </strong>The VABS3 composite score (34 [IQR 26-46]) indicated overall adaptive function >4 SDs below the normative mean. Forty percent of participants aged 2 years or older required wheelchairs for home distances, and 28% could not take any steps. The median standardized scores (SSs) for the VABS3 motor domain (20 [IQR 20-32]) and gross motor subdomain (1 [IQR 1-2]) reflected performance at the floor of the measures. Standardized motor scores discriminated poorly among participants with different levels of mobility (FAQ-WL and FMS) and different markers of diseases severity (presence of epilepsy, history of epileptic spasms, number of seizure medications). Cross-sectionally, SSs declined with increasing age. By contrast, raw scores of the VABS3 and ABAS and growth scale values (GSVs) of the VABS3 had relatively little floor effects. They distinguished well between participants based on FAQ-WL and FMS scores and between those with different disease severity markers. Test-retest and inter-rater reliability for all scores were excellent. No motor score changed significantly over time in the longitudinal analyses.</p><p><strong>Discussion: </strong>Gross motor function in people with SCN2A-RDs is so severely impaired that it cannot be adequately measured with norm-referenced (standardized) scores. GSVs and alternative scoring assessments used out of their intended age range have superior and promising psychometric features in this severely impaired group, and they should be considered in future precision medicine trials for SCN2A-RDs and other similarly severe, rare disorders.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"15 3","pages":"e200479"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12054743/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144036682","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of Seizure Action Plans in Pediatric Convulsive Status Epilepticus: Focus on Benzodiazepine-Responsive and Resistant Cases.","authors":"Coral M Stredny, Sahar Rostamian, Theodore Alexander Sheehan, Marina Gaínza-Lein, Shannon Carey, Samuel Lewis, Justice Clark, Bethany Bucciarelli, Madeline Chiujdea, Annalee Antonetty, Bo Zhang, Luisa Fernanda Atunes Ortega, Lillian Voke, Tobias Loddenkemper","doi":"10.1212/CPJ.0000000000200449","DOIUrl":"10.1212/CPJ.0000000000200449","url":null,"abstract":"<p><strong>Background and objectives: </strong>Optimal acute treatment is crucial in pediatric convulsive status epilepticus (CSE). However, data on the benefits of seizure action plans (SAPs) and treatment algorithm implementation in relation to process and outcome measures in CSE are scarce. Our study examines treatment algorithm adherence in benzodiazepine (BZD)-responsive and BZD-resistant groups and specifically focuses on the relationship with personalized SAPs.</p><p><strong>Methods: </strong>We performed a prospective observational cohort study evaluating patient care processes and outcomes in young patients with CSE lasting ≥5 minutes, requiring admission and an antiseizure medication(s) (ASM) for seizure termination from February 2016 to July 2018. Patients with infantile spasms, invasive EEG monitoring, unclear seizure duration, unclear ASM administration time, or seizure cluster were excluded. We used univariate statistics to analyze the data.</p><p><strong>Results: </strong>We enrolled 60 patients (median age 3.7 [1.9-7.0] years, 48% female), including 34 BZD-responsive and 26 BZD-resistant patients. Patients who had access to a personalized SAP, even if it was not adhered to, experienced a median (p25-p75) time to first ASM of 6 minutes (5-18; n = 34). By contrast, patients without access to a personalized SAP had a longer median (p25-p75) time to the first ASM of 15 minutes (8-27; n = 24; <i>p</i> < 0.05). The median (p25-p75) time to administer the first ASM was 6 (5-15; n = 33) minutes in BZD-responsive patients vs 15 (6-32; n = 25; <i>p</i> < 0.05) minutes in BZD-resistant patients. Treatment protocol implementation rates were lower in BZD-resistant vs BZD-responsive patients. The median (p25-p75) time to administer the first ASM was 5 minutes (4-5; n = 14) in patients who implemented a personalized SAP compared with 16 minutes (6-31; n = 20; <i>p</i> < 0.001) in patients without SAP implementation. The median (p25-p75) seizure duration in personalized SAP implementation and nonimplementation groups was 9 (6-16; n = 14) and 22 (11-64; n = 20; <i>p</i> < 0.01) minutes, respectively. The intubation rate was 14% for those who implemented the personalized SAP and 53% for those who did not (<i>p</i> < 0.05).</p><p><strong>Discussion: </strong>Seizure duration was shorter in patients with personalized SAP, and the time to administer ASM was faster. In addition, BZD-resistant patients were less likely to follow treatment protocols, and the time to first-line therapy was slower. SAP and algorithm implementation was associated with a lower intubation rate, indicating potential benefits, including improved process and patient outcome measures.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"15 3","pages":"e200449"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11966521/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795820","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Role of Central Sensitization Syndrome in Patients With Autonomic Symptoms.","authors":"Peter Novak, Sadie P Marciano, Aleandra Witte","doi":"10.1212/CPJ.0000000000200463","DOIUrl":"10.1212/CPJ.0000000000200463","url":null,"abstract":"<p><strong>Background and objectives: </strong>Idiosyncratic autonomic-like symptomatology, e.g., when objective autonomic tests cannot fully explain autonomic concerns, is poorly understood. We hypothesize that central sensitization plays a role in the autonomic symptoms-sings dichotomy.</p><p><strong>Methods: </strong>This retrospective case-control study was conducted at Brigham and Women's Faulkner Hospital Autonomic Laboratory between 2022 and 2023 and analyzed patients who completed autonomic testing that included surveys (Central Sensitization Inventory [assessing central sensitization syndrome {CSS}], Compass-31 [assessing autonomic symptoms], Neuropathy Total Symptom Score-6 [assessing sensory symptoms]) and autonomic (Valsalva maneuver, deep breathing, sudomotor evaluation, and head-up tilt), cerebrovascular (cerebral blood flow velocity [CBFv]), respiratory (capnography), and neuropathic (skin biopsies for assessment of small fiber neuropathy) testing.</p><p><strong>Results: </strong>In total, 555 patients were enrolled and 455 (78%) satisfied criteria for CSS. Patients with CSS were younger and more frequently female and had longer duration of symptoms, more comorbidities, and higher Compass-31 scores and NTSS-6 compared with non-CSS patients. Autonomic testing showed lower orthostatic end-tidal CO₂ (<i>p</i> = 0.002) and larger orthostatic decline in CBFv (<i>p</i> < 0.001) in the CSS group. There was no difference in the peripheral nervous system markers (sudomotor tests and skin biopsies). The frequency of moderate autonomic failure (AF) (91.4% vs 95%, <i>p</i> = 0.321) was similar between the groups, but the CSS group had lower AF score (4.21 ± 3.34 vs 5.23 ± 4.08, <i>p</i> < 0.021).</p><p><strong>Discussion: </strong>CSS is present in most patients with chronic autonomic concerns. Central sensitization amplifies autonomic symptoms presumably through perturbed interoceptive processing and can be an underlying mechanism driving idiosyncratic autonomic-like symptomatology. Patients with CSS had objective evidence of autonomic impairment; however, it was less severe than in non-CSS patients. Our study shows that CSS and AF coexist and both conditions need to be treated.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"15 3","pages":"e200463"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11970932/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795847","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}