Neurology. Clinical practice最新文献

{"title":"Feeding Difficulties and Gastrostomy in Dravet Syndrome: A UK-Wide Survey and 2-Center Experience.","authors":"Lisa M Clayton, Bahar Azadi, Claire Eldred, Galia Wilson, Robert Robinson, Sanjay M Sisodiya","doi":"10.1212/CPJ.0000000000200288","DOIUrl":"10.1212/CPJ.0000000000200288","url":null,"abstract":"<p><strong>Background and objectives: </strong>Dravet syndrome (DS) is one of the most common monogenic epilepsies. Alongside the core seizure and developmental phenotypes, problems with appetite, swallowing, and weight loss are frequently reported, necessitating gastrostomy in some. We explored the burden of feeding difficulties and need for gastrostomy across 3 DS populations in the United Kingdom. We document caregiver opinion and postgastrostomy outcomes, and provide guidance regarding feeding issues and gastrostomy in DS.</p><p><strong>Methods: </strong>A retrospective, observational study was conducted; data were collected from medical records of 124 individuals with DS attending clinics at the National Hospital for Neurology and Neurosurgery, and Great Ormond Street Hospital, and from 65 DS caregiver responses to a UK-wide survey.</p><p><strong>Results: </strong>In total, 64 of 124 (52%) had at least 1 feeding difficulty; 21 of 124 (17%) had a gastrostomy, and gastrostomy was being considered in 5%; the most common reasons for gastrostomy were poor appetite (81%) and weight loss/failure to gain weight (71%). Median age at gastrostomy was 17 years (range 2.5-59). Multivariate analyses identified several factors that in combination contributed to risk of feeding difficulties and gastrostomy, including treatment with several antiseizure medications (ASMs), of which stiripentol made a unique contribution to risk of gastrostomy (<i>p</i> = 0.048, odds ratio 3.20, 95% CI 1.01-10.16). Preinsertion, 88% of caregivers were worried about the gastrostomy, with concerns across a range of issues. Postgastrostomy, 88% of caregivers were happy that their child had the gastrostomy, and >90% agreed that the gastrostomy ensured medication compliance, that their child's overall health was better, and that quality of life improved.</p><p><strong>Discussion: </strong>Feeding difficulties are common in DS, and 17% require a gastrostomy to address these. Risk factors for feeding difficulties in DS are unknown, but ASMs may play a role. There is a high level of caregiver concern regarding gastrostomy preprocedure; however, postgastrostomy caregiver opinion is positive. Feeding difficulties should be proactively sought during review of people with DS, and the potential need for gastrostomy should be discussed.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11087032/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140912611","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":"Expanding the Spectrum of Congenital Myopathy Linked to Variants in the <i>MYBPC1</i> Gene: A Clinical Report.","authors":"Pierre-Louis Lanvin, Dong Li, Solène Conrad, Armelle Magot, Xavier Micaelli, Yann Péréon, Marie Vincent, Bertrand Isidor, Damien Sternberg, Elizabeth M McCormick, Hakon Hakonarson, Sandra Mercier, Marni J Falk","doi":"10.1212/CPJ.0000000000200228","DOIUrl":"https://doi.org/10.1212/CPJ.0000000000200228","url":null,"abstract":"<p><strong>Objectives: </strong>Heterozygous missense variants in <i>MYBPC1</i> have been recently identified in 13 patients from 6 families with congenital myopathy with tremor. All the patients had mild skeletal myopathy invariably associated with a distinctive myogenic tremor and hypotonia with gradual clinical improvement. However, no phenotypic description has been reported for the neonatal respiratory impairment that patients may suffer.</p><p><strong>Methods: </strong>We report 3 new patients from 2 independent families with congenital myopathy with tremor.</p><p><strong>Results: </strong>Tremors and respiratory distress associated with stridor should raise the diagnosis of congenital myopathy with tremors linked to <i>MYBPC1</i>-dominant variants in children with neonatal hypotonia.</p><p><strong>Discussion: </strong>Neonatal severe respiratory impairment requiring intensive noninvasive ventilation because of stridor is described in 2 patients. Stridor was previously reported in one other case and is part of the clinical features.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11057435/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140874744","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":"MRI-Derived AD Signature of Cortical Thinning and Plasma P-Tau217 for Predicting Alzheimer Dementia Among Community-Dwelling Older Adults.","authors":"Lei Yu, Tianhao Wang, Oskar Hansson, Shorena Janelidze, Melissa Lamar, Konstantinos Arfanakis, David A Bennett, Julie A Schneider, Patricia A Boyle","doi":"10.1212/CPJ.0000000000200291","DOIUrl":"10.1212/CPJ.0000000000200291","url":null,"abstract":"<p><strong>Background and objectives: </strong>Structural brain MRI and blood-based phosphorylated tau (p-tau) measures are among the least invasive and least expensive Alzheimer's disease (AD) biomarkers to date. The extent to which these biomarkers may outperform one another in predicting future Alzheimer dementia diagnosis is poorly understood, however. This study investigated 2 specific AD biomarkers, i.e., a cortical thickness signature of AD (AD-CT) and plasma p-tau217, for predicting Alzheimer dementia.</p><p><strong>Methods: </strong>Data came from community-dwelling older participants of the Religious Orders Study or the Rush Memory and Aging Project. AD-CT was obtained from 3T MRI scans using a magnetization-prepared rapid acquisition gradient echo sequence and by averaging thickness from previously identified cortical regions implicated in AD. Plasma p-tau217 was quantified using an immunoassay developed by Lilly Research Laboratories on the MSD platform. Both MRI scans and blood specimens were collected at the same visits, and subsequent diagnoses of Alzheimer dementia were determined through annual detailed clinical evaluations. Cox proportional hazards models examined the associations of the 2 biomarkers with incident Alzheimer dementia, and prediction accuracy was assessed using c-statistics.</p><p><strong>Results: </strong>A total of 198 older adults, on average 84 years of age, were included. Over a mean follow-up of 4 years, 60 (30%) individuals developed Alzheimer dementia. AD-CT (hazard ratio: 1.71, 95% CI 1.26-2.31) and separately plasma p-tau217 (hazard ratio: 2.57, 95% CI 1.83-3.61) were associated with incident Alzheimer dementia. The c-statistic for prediction accuracy was consistently higher for plasma p-tau217 (between 0.74 and 0.81) than AD-CT (between 0.70 and 0.75) across a range of time horizons. Furthermore, with both biomarkers included in the same model, there was only modest improvement in the c-statistic due to AD-CT.</p><p><strong>Discussion: </strong>Plasma p-tau217 outperforms an imaging-based cortical thickness signature of AD in predicting future Alzheimer dementia diagnosis. Furthermore, the AD cortical thickness signature adds little to the prediction accuracy above and beyond plasma p-tau217.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11073883/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140892204","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":"Clinical Predictors of Postmortem Amyloid and Nonamyloid Cerebral Small Vessel Disease in Middle-Aged to Older Adults.","authors":"Caroline Dallaire-Théroux, Colin Smith, Simon Duchesne","doi":"10.1212/CPJ.0000000000200271","DOIUrl":"10.1212/CPJ.0000000000200271","url":null,"abstract":"<p><strong>Background and objectives: </strong>Sporadic cerebral small vessel disease (CSVD) is a class of important pathologic processes known to affect the aging brain and to contribute to cognitive impairment. We aimed to identify clinical risk factors associated with postmortem CSVD in middle-aged to older adults.</p><p><strong>Methods: </strong>We developed and tested risk models for their predictive accuracy of a pathologic diagnosis of nonamyloid CSVD and cerebral amyloid angiopathy (CAA) in a retrospective sample of 160 autopsied cases from the Edinburgh Brain Bank. Individuals aged 40 years and older covering the spectrum of healthy aging and common forms of dementia (i.e., highly-prevalent etiologies such as Alzheimer disease (AD), vascular cognitive impairment (VCI), and mixed dementia) were included. We performed binomial logistic regression models using sample splitting and cross-validation methods. Demographics, lifestyle habits, traditional vascular risk factors, chronic medical conditions, <i>APOE4</i>, and cognitive status were assessed as potential predictors.</p><p><strong>Results: </strong>Forty percent of our sample had a clinical diagnosis of dementia (AD = 33, VCI = 26 and mixed = 5) while others were cognitively healthy (n = 96). The mean age at death was 73.8 (SD 14.1) years, and 40% were female. The presence of none-to-mild vs moderate-to-severe nonamyloid CSVD was predicted by our model with good accuracy (area under the curve [AUC] = 0.84, sensitivity [SEN] = 72%, specificity [SPE] = 95%), with the most significant clinical predictors being age, history of cerebrovascular events, and cognitive impairment. The presence of CAA pathology was also predicted with high accuracy (AUC = 0.86, SEN = 93%, SPE = 79%). Significant predictors included alcohol intake, history of cerebrovascular events, and cognitive impairment. In a subset of atypical dementias (n = 24), our models provided poor predictive performance for both nonamyloid CSVD (AUC = 0.50) and CAA (AUC = 0.43).</p><p><strong>Discussion: </strong>CSVD pathology can be predicted with high accuracy based on clinical factors in patients within the spectrum of AD, VCI, and normal aging. Whether this prediction can be enhanced by the addition of fluid and neuroimaging biomarkers warrants additional study. Improving our understanding of clinical determinants of vascular brain health may lead to novel strategies in the prevention and treatment of vascular etiologies contributing to cognitive decline.</p><p><strong>Classification of evidence: </strong>This study provides Class II evidence that selected clinical factors accurately distinguish between middle-aged to older adults with and without cerebrovascular small vessel disease (amyloid and nonamyloid) pathology.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10959170/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140207369","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":"Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy: A Case Report.","authors":"Martina Giorgia Perinelli, Cecilia Naboni, Ganna Balagura, Elisabetta Amadori, Maria Stella Vari, Valeria Capra, Camelia Lentoiou, Thomas Foiadelli, Fabio Sirchia, Antonella Luparia, Gianluigi Marseglia, Luca A Ramenghi, Pasquale Striano","doi":"10.1212/CPJ.0000000000200287","DOIUrl":"https://doi.org/10.1212/CPJ.0000000000200287","url":null,"abstract":"<p><strong>Objectives: </strong>CDKL5 developmental and epileptic encephalopathy (CDKL5-DEE) is a rare X-linked dominant genetic disorder. Family-centered Early Intervention (EI) programs, which promote axonal plasticity and synaptic reorganization through exposure to an enriched environment, should be integrated into clinical practice. However, there is presently a dearth of dedicated EI protocols for patients with CDKL5-DEE and cerebral visual impairment (CVI).</p><p><strong>Methods: </strong>We present a girl with a deletion of the CDKL5 gene (MIM*300203). At the age of 2 months, the child presented with severe epilepsy. The neurologic examination was abnormal, and she had severe CVI. At the first assessment, at 5 months old, her Developmental Quotient (DQ) on the Griffiths Mental Developmental Scales III (GMDS-III) was equivalent to 3-month-old skills (95% CI). The child was enrolled in an EI program for 6 months.</p><p><strong>Results: </strong>At 12 months of age, the DQ score was 91. There has been improvement in the neurovisual functions. The findings from the scales show a gradual improvement in neuromotor and psychomotor development, which is in contrast to the expected outcome of the disease.</p><p><strong>Discussion: </strong>The case study shows that a family-centered EI and prompt assessment of CVI can promote and enhance neurodevelopment.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11042840/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140852137","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":"Sex Differences in the Severity and Progression of Neuropsychiatric Symptoms Across Different Dementia Types.","authors":"Chiara Silvestri, Valentina Almici, Ilenia Libri, Irene Mattioli, Maura Cosseddu, Rosanna Turrone, Jasmine Rivolta, Chiara Grassini, Salvatore Caratozzolo, Antonella Alberici, Alessandra Marengoni, Andrea Pilotto, Barbara Borroni, Alessandro Padovani, Alberto Benussi","doi":"10.1212/CPJ.0000000000200299","DOIUrl":"10.1212/CPJ.0000000000200299","url":null,"abstract":"<p><strong>Background and objectives: </strong>Dementia presents not only differing neuropsychiatric symptoms (NPS) across Alzheimer disease (AD), frontotemporal dementia (FTD), dementia with Lewy bodies (DLB) but also subjective cognitive decline (SCD). This study examined sex-based variations in NPS severity and progression across these conditions.</p><p><strong>Methods: </strong>We performed a longitudinal cohort study including 1,068 participants. Hierarchical generalized linear mixed models were used to model NPS as a function of disease severity and biological sex at birth.</p><p><strong>Results: </strong>Female participants with AD exhibited NPS more frequently than male participants. In FTD, female participants had more frequent delusions, hallucinations, and depression/dysphoria, while male participants had higher instances of agitation/aggression, apathy, disinhibition, and irritability/lability. In DLB, male participants showed higher instances of depression, and female participants more frequently experienced anxiety. In SCD, female participants showed higher nighttime behaviors. The trajectory of NPS significantly differed between sexes.</p><p><strong>Discussion: </strong>These findings highlight sex-specific NPS impact in different neurodegenerative conditions.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11073872/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140892206","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":"Innovative Therapeutic Approaches in Congenital Myasthenic Syndromes.","authors":"Mohamed I Kediha, Meriem Tazir, Damien Sternberg, Bruno Eymard, Lamia Ali Pacha","doi":"10.1212/CPJ.0000000000200277","DOIUrl":"10.1212/CPJ.0000000000200277","url":null,"abstract":"<p><strong>Background and objectives: </strong>To provide real-word clinical follow-up data on patients carrying variations of congenital myasthenic syndromes (CMS) and who respond to some innovative drugs.</p><p><strong>Methods: </strong>Patients recruited from the Neurology Department of the Mustapha Bacha university hospital in Algiers. Treated with innovative drugs, they were monitored and their clinical progress was evaluated on the basis of clinical arguments suggestive of CMSs, but also para clinical arguments (electromyography and genetic study).</p><p><strong>Results: </strong>Six patients carrying different mutations in different genes of CMSs were studied. They had different pathophysiologic profiles (slow or fast channel syndromes, low expressor of receptor). Their therapeutic management was based on innovative drugs, normally indicated in other, non-neurological pathologies. Their outcome was toward a clear clinical improvement.</p><p><strong>Discussion: </strong>This work relates the interest of proposing treatments (outside of Pyridostigmine) in the management of CMSs. These therapies can greatly modify the prognosis of patients suffering from this orphan disease.</p><p><strong>Classification of evidence: </strong>This study provides Class IV evidence that for patients with congenital myasthenic syndromes, some innovative treatments are effective.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11081764/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140912612","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":"Operational Impact of Neurology Rural Access Model: Reflections on the Importance of Demand-Shaping.","authors":"Alexis Kurek, Kennedy Boone-Sautter, Cynthia M Hingtgen, Aiesha Ahmed","doi":"10.1212/CPJ.0000000000200274","DOIUrl":"https://doi.org/10.1212/CPJ.0000000000200274","url":null,"abstract":"<p><strong>Background and objectives: </strong>Demand for specialty neurologic care has been steadily increasing over the past several decades, and health systems are needing to meet the demands of their patients while managing a dwindling workforce. This retrospective study investigates the operational impact of a regional neurology clinic staffed by advanced practice providers with remote physician oversight in a \"hub and spoke\" delivery model to serve lower complexity patients.</p><p><strong>Methods: </strong>A retrospective, cross-sectional study was conducted to evaluate outcomes. Descriptive analysis of referral volumes, cancellation/no-show rates, and patient complexity as determined by the reason for referral were used to evaluate patients who received referrals from rural counties north of the primary neurology practice before and after the opening of the regional clinic. These metrics were evaluated longitudinally from counties of interest and for differences in patients seen at the regional clinic vs primary neurology practice.</p><p><strong>Results: </strong>Referral volumes from the northern counties increased at significantly higher rates after the opening of the regional clinic than other counties in the serviced area. This resulted in an increase in patients seen in the hub clinics and spoke clinic. The regional clinic did see patients who were less complex than the primary practice; however, the total volume of low-complexity patients scheduled at the primary practice did not decrease. Cancellation and no-show rates did not seem to be affected in either clinic.</p><p><strong>Discussion: </strong>The opening of a regional \"spoke\" clinic resulted in the generation of greater referral volumes that exceeded the capacity created by the clinic. Owing to this, there was an increase in the number of patients seen from the regional counties in the hub clinics, negating the potential benefit of improving access for high-complexity patients. Importance of demand-shaping and appropriate utilization as part of the value equation are discussed, followed by discussion of mitigation strategies.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11010244/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140860994","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":"Understanding Abnormal Examination Findings During Concussion Recovery: A Retrospective Chart Review.","authors":"Nicholas S Streicher, Michael Popovich, Andrea Almeida, Bara Alsalaheen, Ingrid K Ichesco, Jeremiah Freeman, Matt Lorincz, James T Eckner","doi":"10.1212/CPJ.0000000000200284","DOIUrl":"https://doi.org/10.1212/CPJ.0000000000200284","url":null,"abstract":"<p><strong>Background and objective: </strong>Physical examination findings in athletes with sport-related concussion (SRC) are not well described in the literature. The objective of this study was to describe physical examination findings during the first month following concussion in athletes, with a focus on the effect of sex, age, and time since injury.</p><p><strong>Methods: </strong>This was a retrospective electronic medical record (EMR) review of physical examination findings in 500 patients aged 6-24 who were initially seen within 15 days of SRC at a multidisciplinary outpatient academic concussion clinic between 2017 and 2019. A standardized concussion examination built in the EMR recorded mental status, cranial nerve, vestibulo-ocular motor screen, and balance findings for all patients. The primary outcome was the frequency of abnormal examination findings during the first 30 days postinjury, which was further analyzed by sex, age, and time since injury using mixed logistic regression models.</p><p><strong>Results: </strong>The most common abnormal examination findings overall were eyes-closed single-leg stance, vestibular-ocular reflex, visual motion sensitivity, the neck examination, and eyes-closed tandem stance. Abnormal findings were more frequent in female athletes for vestibular ocular reflex and visual motion sensitivity. The frequency of abnormal findings increased with age for vestibulo-ocular reflex, visual motion sensitivity, the neck examination, convergence testing, and eyes-open single-leg stance, whereas abnormalities decreased in frequency with age for eyes-open tandem stance and tandem gait. The frequency of abnormal findings generally decreased with time over the first 4 weeks following injury.</p><p><strong>Discussion: </strong>A comprehensive physical examination is pivotal for evaluation of athletes with concussion. These findings highlight high-yield components of the concussion examination and support use of these examination components as injury markers. Future work should investigate associations between physical examination findings and postconcussion symptoms and recovery outcomes.</p><p><strong>Classification of evidence: </strong>This retrospective cohort study provides Class IV evidence that neurologic examination with specifically designed clinical tests are helpful for diagnosis of traumatic brain injury in young athletes at age 6-24.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11065325/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140855564","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":"GPT-4 Performance for Neurologic Localization.","authors":"Jung-Hyun Lee, Eunhee Choi, Robert McDougal, William W Lytton","doi":"10.1212/CPJ.0000000000200293","DOIUrl":"https://doi.org/10.1212/CPJ.0000000000200293","url":null,"abstract":"<p><strong>Background and objectives: </strong>In health care, large language models such as Generative Pretrained Transformers (GPTs), trained on extensive text datasets, have potential applications in reducing health care disparities across regions and populations. Previous software developed for lesion localization has been limited in scope. This study aims to evaluate the capability of GPT-4 for lesion localization based on clinical presentation.</p><p><strong>Methods: </strong>GPT-4 was prompted using history and neurologic physical examination (H&P) from published cases of acute stroke followed by questions for clinical reasoning with answering for \"single or multiple lesions,\" \"side,\" and \"brain region\" using Zero-Shot Chain-of-Thought and Text Classification prompting. GPT-4 output on 3 separate trials for each of 46 cases was compared with imaging-based localization.</p><p><strong>Results: </strong>GPT-4 successfully processed raw text from H&P to generate accurate neuroanatomical localization and detailed clinical reasoning. Performance metrics across trial-based analysis for specificity, sensitivity, precision, and F1-score were 0.87, 0.74, 0.75, and 0.74, respectively, for side; 0.94, 0.85, 0.84, and 0.85, respectively, for brain region. Class labels within the brain region were similarly high for all regions except the cerebellum and were also similar when considering all 3 trials to examine metrics by case. Errors were due to extrinsic causes-inadequate information in the published cases, and intrinsic causes-failures of logic or inadequate knowledge base.</p><p><strong>Discussion: </strong>This study reveals capabilities of GPT-4 in the localization of acute stroke lesions, showing a potential future role as a clinical tool in neurology.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11003355/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140870717","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}