Pub Date : 2025-03-05DOI: 10.1007/s10072-025-08050-9
Danoosh Esmaeili, Ali Hosseini
{"title":"Letter to the editor concerning \"Prognostic role of quantitative pupillometry in traumatic brain injury: a scoping review\".","authors":"Danoosh Esmaeili, Ali Hosseini","doi":"10.1007/s10072-025-08050-9","DOIUrl":"https://doi.org/10.1007/s10072-025-08050-9","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557663","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-04DOI: 10.1007/s10072-025-08083-0
Hideki Endo, Hidetoshi Ono, Hirohiko Nakamura
Bilateral identical duplications of the middle cerebral artery are extremely rare. We report this anatomical variation in a 56-year-old woman. The anatomical variation was identified using magnetic resonance angiography, which was performed to evaluate cerebrovascular disease. Bilaterally, one middle cerebral artery originated from the internal carotid artery bifurcation and the other originated from the internal carotid artery terminal segment. The anatomical variations were incidental findings, and the patient was asymptomatic.
{"title":"Bilateral duplicated middle cerebral arteries.","authors":"Hideki Endo, Hidetoshi Ono, Hirohiko Nakamura","doi":"10.1007/s10072-025-08083-0","DOIUrl":"https://doi.org/10.1007/s10072-025-08083-0","url":null,"abstract":"<p><p>Bilateral identical duplications of the middle cerebral artery are extremely rare. We report this anatomical variation in a 56-year-old woman. The anatomical variation was identified using magnetic resonance angiography, which was performed to evaluate cerebrovascular disease. Bilaterally, one middle cerebral artery originated from the internal carotid artery bifurcation and the other originated from the internal carotid artery terminal segment. The anatomical variations were incidental findings, and the patient was asymptomatic.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542696","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-03DOI: 10.1007/s10072-025-08061-6
Francesco Panico, Eleonora Fonzo, Annalisa Verde, Simona Lancia, Luigi Trojano
Objective: the assessment of malingering in forensic neuropsychological testing can be supported by the use of performance validity tests (PVTs). When designing PVTs, test material should be easy enough to be insensitive to real cognitive dysfunction, but at the same time difficult enough not to appear overtly as a measure of poor effort. In the present paper, we aimed at proposing a new instrument, the Test of Malingering in Abstraction Skills (TOMAS), for detecting poor effort possibly due to malingering in forensic neuropsychological assessment; in designing the instrument, we ensured that the test had a credible level of difficulty to keep satisfactory sensitivity.
Method: the TOMAS was developed as a standalone tool utilising items selected from standardised and validated neuropsychological tests assessing verbal abstraction skills. In three studies we developed the final version of the test, assessed its association with demographic and cognitive variables, and estimated its sensitivity, specificity and criterion validity in comparison with the Rey 15-items test using a simulation paradigm involving healthy participants.
Results: the final version of the TOMAS includes two sections (Part A and Part B) providing multiple indexes that have an adequate discriminating power, with satisfactory sensitivity and specificity values; the discriminating power of the TOMAS is higher than that of the Rey 15-items test.
Conclusion: the multiple indexes provided by the TOMAS may support clinicians in assessing poor effort during neuropsychological examination. Future evidence is needed to fully establish the validity of the instrument in clinical and forensic samples.
{"title":"Proposal for a new tool assessing validity performance in forensic neuropsychological testing: the Test of Malingering in Abstraction Skills (TOMAS).","authors":"Francesco Panico, Eleonora Fonzo, Annalisa Verde, Simona Lancia, Luigi Trojano","doi":"10.1007/s10072-025-08061-6","DOIUrl":"https://doi.org/10.1007/s10072-025-08061-6","url":null,"abstract":"<p><strong>Objective: </strong>the assessment of malingering in forensic neuropsychological testing can be supported by the use of performance validity tests (PVTs). When designing PVTs, test material should be easy enough to be insensitive to real cognitive dysfunction, but at the same time difficult enough not to appear overtly as a measure of poor effort. In the present paper, we aimed at proposing a new instrument, the Test of Malingering in Abstraction Skills (TOMAS), for detecting poor effort possibly due to malingering in forensic neuropsychological assessment; in designing the instrument, we ensured that the test had a credible level of difficulty to keep satisfactory sensitivity.</p><p><strong>Method: </strong>the TOMAS was developed as a standalone tool utilising items selected from standardised and validated neuropsychological tests assessing verbal abstraction skills. In three studies we developed the final version of the test, assessed its association with demographic and cognitive variables, and estimated its sensitivity, specificity and criterion validity in comparison with the Rey 15-items test using a simulation paradigm involving healthy participants.</p><p><strong>Results: </strong>the final version of the TOMAS includes two sections (Part A and Part B) providing multiple indexes that have an adequate discriminating power, with satisfactory sensitivity and specificity values; the discriminating power of the TOMAS is higher than that of the Rey 15-items test.</p><p><strong>Conclusion: </strong>the multiple indexes provided by the TOMAS may support clinicians in assessing poor effort during neuropsychological examination. Future evidence is needed to fully establish the validity of the instrument in clinical and forensic samples.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-03DOI: 10.1007/s10072-025-08059-0
Hatice Varlıbaş, Alkım Ateşli Yazıcı
Background: Hemichorea-hemiballism (HCHB) is a rare movement disorder typically associated with contralateral subthalamic nucleus (STN) lesions, but it may also occur ipsilaterally. This case report highlights a rare instance of ipsilateral HCHB caused by a putaminal hematoma, providing insights into its pathophysiology and management.
Case report: A 52-year-old female with a history of bioprosthetic valve replacement and hypertension presented with involuntary movements in the left arm. Neurological examination revealed choreiform movements in the right upper extremity and left hemihypoesthesia. Cranial CT showed a right putaminal hematoma, while MRI revealed no additional findings. Despite no response to a 7-day course of haloperidol, the patient showed significant improvement with risperidone treatment, achieving complete resolution of symptoms within five months.
Conclusion: HCHB is commonly associated with contralateral basal ganglia lesions; however, this case demonstrates its occurrence ipsilaterally, likely due to vascular disinhibition of basal ganglia structures. Antidopaminergic therapy, including risperidone, proved effective in managing the disorder. This report underscores the importance of recognizing ipsilateral HCHB as a rare but treatable clinical presentation.
{"title":"Hemichorea associated with ipsilateral basal ganglia lesions.","authors":"Hatice Varlıbaş, Alkım Ateşli Yazıcı","doi":"10.1007/s10072-025-08059-0","DOIUrl":"https://doi.org/10.1007/s10072-025-08059-0","url":null,"abstract":"<p><strong>Background: </strong>Hemichorea-hemiballism (HCHB) is a rare movement disorder typically associated with contralateral subthalamic nucleus (STN) lesions, but it may also occur ipsilaterally. This case report highlights a rare instance of ipsilateral HCHB caused by a putaminal hematoma, providing insights into its pathophysiology and management.</p><p><strong>Case report: </strong>A 52-year-old female with a history of bioprosthetic valve replacement and hypertension presented with involuntary movements in the left arm. Neurological examination revealed choreiform movements in the right upper extremity and left hemihypoesthesia. Cranial CT showed a right putaminal hematoma, while MRI revealed no additional findings. Despite no response to a 7-day course of haloperidol, the patient showed significant improvement with risperidone treatment, achieving complete resolution of symptoms within five months.</p><p><strong>Conclusion: </strong>HCHB is commonly associated with contralateral basal ganglia lesions; however, this case demonstrates its occurrence ipsilaterally, likely due to vascular disinhibition of basal ganglia structures. Antidopaminergic therapy, including risperidone, proved effective in managing the disorder. This report underscores the importance of recognizing ipsilateral HCHB as a rare but treatable clinical presentation.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-03DOI: 10.1007/s10072-025-08080-3
Simona Raimo, Mariachiara Gaita, Maria Cropano, Lidia Ammendola, Daniela Malangone, Valentina Torchia, Mariamichela Aquino, Maria Dolores Roldan-Tapia, Luigi Trojano, Gabriella Santangelo
Background: Numerous risk factors for dementia have been identified, but the concern of how cognitive functions in the mild Neurocognitive Impairment (mild NCI) stage predict dementia occurrence and incidence is still a matter of debate. The present paper aims to fill this gap by conducting an updated meta-analysis of studies examining the probability over time of developing dementia in relation to measures of global cognitive functioning, long-term verbal memory, complex attention, visuoconstructional ability, and language in the mild NCI stage.
Methods: We conducted a systematic literature search up to March 2024 in PubMed, PsycINFO (PROQUEST), and Scopus databases. We used random-effects models to pool the ratio measure (odds, hazard, or risk ratios) for the association between cognitive domains and the risk of developing dementia in people with mild NCI.
Results: The systematic search in electronic databases identified 44 relevant studies. Results showed that better performance in long-term verbal memory, visuoconstructional, and language abilities in individuals with mild NCI were associated with a lower risk of progression to dementia.
Discussion: These findings might suggest that interventions aimed at preserving or enhancing these cognitive domains could be beneficial in delaying or preventing dementia onset, offering a potential therapeutic target for clinicians working with at-risk populations.
{"title":"Cognitive markers of resilience to dementia in mild Neurocognitive Impairment: a meta- analysis.","authors":"Simona Raimo, Mariachiara Gaita, Maria Cropano, Lidia Ammendola, Daniela Malangone, Valentina Torchia, Mariamichela Aquino, Maria Dolores Roldan-Tapia, Luigi Trojano, Gabriella Santangelo","doi":"10.1007/s10072-025-08080-3","DOIUrl":"https://doi.org/10.1007/s10072-025-08080-3","url":null,"abstract":"<p><strong>Background: </strong>Numerous risk factors for dementia have been identified, but the concern of how cognitive functions in the mild Neurocognitive Impairment (mild NCI) stage predict dementia occurrence and incidence is still a matter of debate. The present paper aims to fill this gap by conducting an updated meta-analysis of studies examining the probability over time of developing dementia in relation to measures of global cognitive functioning, long-term verbal memory, complex attention, visuoconstructional ability, and language in the mild NCI stage.</p><p><strong>Methods: </strong>We conducted a systematic literature search up to March 2024 in PubMed, PsycINFO (PROQUEST), and Scopus databases. We used random-effects models to pool the ratio measure (odds, hazard, or risk ratios) for the association between cognitive domains and the risk of developing dementia in people with mild NCI.</p><p><strong>Results: </strong>The systematic search in electronic databases identified 44 relevant studies. Results showed that better performance in long-term verbal memory, visuoconstructional, and language abilities in individuals with mild NCI were associated with a lower risk of progression to dementia.</p><p><strong>Discussion: </strong>These findings might suggest that interventions aimed at preserving or enhancing these cognitive domains could be beneficial in delaying or preventing dementia onset, offering a potential therapeutic target for clinicians working with at-risk populations.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542699","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-01Epub Date: 2024-11-01DOI: 10.1007/s10072-024-07842-9
Qi Chao, Pingping Wang, He Li
A middle-aged male who has experienced recurrent, reversible carotid artery stenosis and cerebral infarction over the past decade. Recurrent cerebral infarction is highly prevalent in clinical practice, with an accurate diagnosis of the cause of the disease being crucial. However, the patient is suffering from three diseases that may be involved in the recurrent cerebral infarction, including Reversible Cerebral Vasoconstriction Syndrome (RCVS), Bilateral Eagle Syndrome, and Patent Foramen Ovale (PFO). Among them, both RCVS and Bilateral Eagle Syndrome can lead to recurrent stenosis of the carotid arteries. But the coexistence of these diseases is extremely rare. The symptoms of patients are not typical, and the coexistence of all the three diseases makes it a challenging diagnostic dilemma. This article presents a diagnostic approach to differentiate these possible diseases, thereby enhancing readers' ability to diagnose such situations.
{"title":"Reversible cerebral vasoconstriction syndrome and bilateral Eagle Syndrome cause recurrent reversible carotid artery stenosis and cerebral infarction.","authors":"Qi Chao, Pingping Wang, He Li","doi":"10.1007/s10072-024-07842-9","DOIUrl":"10.1007/s10072-024-07842-9","url":null,"abstract":"<p><p>A middle-aged male who has experienced recurrent, reversible carotid artery stenosis and cerebral infarction over the past decade. Recurrent cerebral infarction is highly prevalent in clinical practice, with an accurate diagnosis of the cause of the disease being crucial. However, the patient is suffering from three diseases that may be involved in the recurrent cerebral infarction, including Reversible Cerebral Vasoconstriction Syndrome (RCVS), Bilateral Eagle Syndrome, and Patent Foramen Ovale (PFO). Among them, both RCVS and Bilateral Eagle Syndrome can lead to recurrent stenosis of the carotid arteries. But the coexistence of these diseases is extremely rare. The symptoms of patients are not typical, and the coexistence of all the three diseases makes it a challenging diagnostic dilemma. This article presents a diagnostic approach to differentiate these possible diseases, thereby enhancing readers' ability to diagnose such situations.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1429-1433"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142558358","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-01Epub Date: 2024-11-20DOI: 10.1007/s10072-024-07882-1
Safrollah M Guinal, Roland Dominic G Jamora, Kathleen Joy O Khu, Jose A Aguilar
Background: Magnetic resonance guided focused ultrasound (MRgFUS) is a non-invasive therapeutic technique that utilizes focused ultrasound waves to generate heat at specific tissue targets within the brain. This emerging technology holds promise for its precision and potential benefits in comparison to traditional surgical interventions. This investigation involves a scoping review, summarizing insights from various studies that explore the advantages, limitations, and outcomes associated with MRgFUS in the treatment of dystonia.
Methods: This scoping review was conducted using the Preferred Reporting Items for Systematic reviews and Meta-analysis Extension for Scoping Reviews (PRISMA-ScR) guidelines. Data available on MRgFUS use in the management of different types of dystonia were extracted.
Results: There is limited data available (n = 11). In the surveyed literature, MRgFUS has consistently shown clinical benefit in patients with dystonia. It is an emerging avenue of treatment and has its challenges.
Conclusion: This scoping review highlighted the early but encouraging applications of MRgFUS in dystonia management. While data was limited, existing studies consistently demonstrated positive clinical outcomes. The non-invasive and precise nature of MRgFUS positions it as a promising avenue for further research, despite the challenges associated with its emergent status. This review sets the stage for future inquiries, emphasizing its potential as a valuable tool in dystonia treatment.
背景:磁共振引导聚焦超声(MRgFUS)是一种非侵入性治疗技术,它利用聚焦超声波在脑内特定组织靶点产生热量。与传统手术干预相比,这项新兴技术具有精确性和潜在优势。本调查涉及范围综述,总结了各种研究的见解,这些研究探讨了 MRgFUS 治疗肌张力障碍的优势、局限性和相关结果:本范围界定综述采用《范围界定综述的系统综述和元分析扩展首选报告项目》(Preferred Reporting Items for Systematic Review and Meta-analysis Extension for Scoping Reviews,PRISMA-ScR)指南进行。提取了有关MRgFUS用于治疗不同类型肌张力障碍的现有数据:可用数据有限(n = 11)。在所调查的文献中,MRgFUS在肌张力障碍患者中一直显示出临床疗效。这是一种新兴的治疗方法,但也存在挑战:本次范围界定综述强调了 MRgFUS 在肌张力障碍治疗中的早期应用,但这一应用令人鼓舞。虽然数据有限,但现有研究一致显示了积极的临床效果。MRgFUS 的无创性和精确性使其成为进一步研究的一个前景广阔的途径,尽管其新兴地位还面临着挑战。本综述为未来的研究奠定了基础,强调了其作为肌张力障碍治疗的重要工具的潜力。
{"title":"Magnetic resonance-guided focused ultrasound in dystonia: a scoping review.","authors":"Safrollah M Guinal, Roland Dominic G Jamora, Kathleen Joy O Khu, Jose A Aguilar","doi":"10.1007/s10072-024-07882-1","DOIUrl":"10.1007/s10072-024-07882-1","url":null,"abstract":"<p><strong>Background: </strong>Magnetic resonance guided focused ultrasound (MRgFUS) is a non-invasive therapeutic technique that utilizes focused ultrasound waves to generate heat at specific tissue targets within the brain. This emerging technology holds promise for its precision and potential benefits in comparison to traditional surgical interventions. This investigation involves a scoping review, summarizing insights from various studies that explore the advantages, limitations, and outcomes associated with MRgFUS in the treatment of dystonia.</p><p><strong>Methods: </strong>This scoping review was conducted using the Preferred Reporting Items for Systematic reviews and Meta-analysis Extension for Scoping Reviews (PRISMA-ScR) guidelines. Data available on MRgFUS use in the management of different types of dystonia were extracted.</p><p><strong>Results: </strong>There is limited data available (n = 11). In the surveyed literature, MRgFUS has consistently shown clinical benefit in patients with dystonia. It is an emerging avenue of treatment and has its challenges.</p><p><strong>Conclusion: </strong>This scoping review highlighted the early but encouraging applications of MRgFUS in dystonia management. While data was limited, existing studies consistently demonstrated positive clinical outcomes. The non-invasive and precise nature of MRgFUS positions it as a promising avenue for further research, despite the challenges associated with its emergent status. This review sets the stage for future inquiries, emphasizing its potential as a valuable tool in dystonia treatment.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1121-1130"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142676424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Traumatic brain injury (TBI) is a major cause of global mortality and disability, leading to primary and secondary brain injuries that can result in severe neurological, cognitive, and psychological impairments. Accurate and early prognosis of TBI outcomes is critical, particularly in assessing the risk of neurological decline, intracranial pressure (ICP) changes, and mortality.
Objective: This systematic review aims to evaluate the prognostic value of quantitative pupillometry, particularly the Neurological Pupil Index (NPi), in predicting long-term outcomes in TBI patients.
Methods: A systematic review was conducted following PRISMA guidelines, with the protocol registered on PROSPERO (CRD42023489079). Databases including PubMed, Scopus, and Embase were searched. Studies were included based on predefined inclusion criteria, focusing on the prognostic accuracy of automated pupillometry in TBI patients. Risk of bias was assessed using the Joanna Briggs Institute (JBI) tool, and evidence quality was evaluated using the Best-Evidence Synthesis approach.
Results: Thirteen studies met the inclusion criteria, with sample sizes ranging from 36 to 2258 participants. The studies demonstrated a consistent association between lower NPi values and increased mortality, poorer functional outcomes, elevated ICP, and the need for emergency interventions. Despite variability in study design and sample sizes, strong evidence supported the use of NPi as a reliable prognostic tool in TBI management.
Conclusion: Automated infrared pupillometry, particularly through NPi measurement, offers important prognostic value in TBI patients. Incorporating NPi into routine clinical practice could improve the accuracy of prognosis and enhance patient management. Future research should focus on standardizing measurement protocols and validating these findings in larger, more diverse cohorts.
{"title":"Prognostic role of quantitative pupillometry in traumatic brain injury: a scoping review.","authors":"Iman Kiani, Mohammadamin Parsaei, Hanie Karimi, Alireza Beikmarzehei, Shahnaz Fooladi Sarabi, Pegah Pezhdam, Mehranoosh Nouri Khoramabadian, Mojtaba Shahbazi, Maryam Masoudi, Hossein Sanjari Moghaddam","doi":"10.1007/s10072-024-07869-y","DOIUrl":"10.1007/s10072-024-07869-y","url":null,"abstract":"<p><strong>Background: </strong>Traumatic brain injury (TBI) is a major cause of global mortality and disability, leading to primary and secondary brain injuries that can result in severe neurological, cognitive, and psychological impairments. Accurate and early prognosis of TBI outcomes is critical, particularly in assessing the risk of neurological decline, intracranial pressure (ICP) changes, and mortality.</p><p><strong>Objective: </strong>This systematic review aims to evaluate the prognostic value of quantitative pupillometry, particularly the Neurological Pupil Index (NPi), in predicting long-term outcomes in TBI patients.</p><p><strong>Methods: </strong>A systematic review was conducted following PRISMA guidelines, with the protocol registered on PROSPERO (CRD42023489079). Databases including PubMed, Scopus, and Embase were searched. Studies were included based on predefined inclusion criteria, focusing on the prognostic accuracy of automated pupillometry in TBI patients. Risk of bias was assessed using the Joanna Briggs Institute (JBI) tool, and evidence quality was evaluated using the Best-Evidence Synthesis approach.</p><p><strong>Results: </strong>Thirteen studies met the inclusion criteria, with sample sizes ranging from 36 to 2258 participants. The studies demonstrated a consistent association between lower NPi values and increased mortality, poorer functional outcomes, elevated ICP, and the need for emergency interventions. Despite variability in study design and sample sizes, strong evidence supported the use of NPi as a reliable prognostic tool in TBI management.</p><p><strong>Conclusion: </strong>Automated infrared pupillometry, particularly through NPi measurement, offers important prognostic value in TBI patients. Incorporating NPi into routine clinical practice could improve the accuracy of prognosis and enhance patient management. Future research should focus on standardizing measurement protocols and validating these findings in larger, more diverse cohorts.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1169-1177"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-01Epub Date: 2024-12-04DOI: 10.1007/s10072-024-07883-0
Marta Ruggiero, Gabriele Giannotta, Greta Pirani, Federica Saponaro, Maria Carmela Oliva, Camilla Ferrante, Antonio Trabacca
Objective: Individuals diagnosed with Spinal Muscular Atrophy (SMA), particularly those presenting with the most severe phenotypes, have long contended with significant swallowing dysfunction. The recent emergence of efficacious advanced therapy has fundamentally altered the landscape of SMA management. By encompassing both the pre and post gene-based therapy eras within our analysis, we endeavour to elucidate the potential impact of these novel therapeutic interventions on this function.
Methods: Following the established methodology outlined by the Joanna Briggs Institute, a scoping review was conducted. This review encompassed relevant literature published up to March 2024. Two electronic databases were searched, with additional studies identified by reviewing reference lists of pertinent articles. The search strategy employed a combination of keywords including "spinal muscular atrophy", "SMA", "swallowing", "feeding", and "nutrition". Articles were initially screened based on title and abstract, followed by a full-text review of eligible studies published in peer-reviewed English language journals.
Results: The initial database search resulted in 462 articles, from which 23 studies were ultimately selected for analysis. Pre gene-based therapy studies revealed swallowing dysfunction as a prominent feature. Patients frequently reported challenges with chewing, choking on solids and liquids, and abnormal tongue movements during eating. Early dysphagia research relied on subjective measures (questionnaires, scales). objective measures like video fluoroscopic (VFSS) were rare. After gene-based therapies (GBTs), VFSS became the dominant, more objective method. Studies investigating the post-gene therapy era suggest potential clinical benefits, with trends towards improvement or stabilization of swallowing function.
Conclusion: Pre gene-based therapy studies revealed widespread swallowing dysfunction in SMA. Conversely, the post-treatment era suggests potential improvement. Future research should prioritize identifying optimal therapies for individual swallowing function and develop validated assessments to optimize SMA management.
{"title":"Swallowing function in patients with spinal muscular atrophy before and after the introduction of new gene-based therapies: what has changed?","authors":"Marta Ruggiero, Gabriele Giannotta, Greta Pirani, Federica Saponaro, Maria Carmela Oliva, Camilla Ferrante, Antonio Trabacca","doi":"10.1007/s10072-024-07883-0","DOIUrl":"10.1007/s10072-024-07883-0","url":null,"abstract":"<p><strong>Objective: </strong>Individuals diagnosed with Spinal Muscular Atrophy (SMA), particularly those presenting with the most severe phenotypes, have long contended with significant swallowing dysfunction. The recent emergence of efficacious advanced therapy has fundamentally altered the landscape of SMA management. By encompassing both the pre and post gene-based therapy eras within our analysis, we endeavour to elucidate the potential impact of these novel therapeutic interventions on this function.</p><p><strong>Methods: </strong>Following the established methodology outlined by the Joanna Briggs Institute, a scoping review was conducted. This review encompassed relevant literature published up to March 2024. Two electronic databases were searched, with additional studies identified by reviewing reference lists of pertinent articles. The search strategy employed a combination of keywords including \"spinal muscular atrophy\", \"SMA\", \"swallowing\", \"feeding\", and \"nutrition\". Articles were initially screened based on title and abstract, followed by a full-text review of eligible studies published in peer-reviewed English language journals.</p><p><strong>Results: </strong>The initial database search resulted in 462 articles, from which 23 studies were ultimately selected for analysis. Pre gene-based therapy studies revealed swallowing dysfunction as a prominent feature. Patients frequently reported challenges with chewing, choking on solids and liquids, and abnormal tongue movements during eating. Early dysphagia research relied on subjective measures (questionnaires, scales). objective measures like video fluoroscopic (VFSS) were rare. After gene-based therapies (GBTs), VFSS became the dominant, more objective method. Studies investigating the post-gene therapy era suggest potential clinical benefits, with trends towards improvement or stabilization of swallowing function.</p><p><strong>Conclusion: </strong>Pre gene-based therapy studies revealed widespread swallowing dysfunction in SMA. Conversely, the post-treatment era suggests potential improvement. Future research should prioritize identifying optimal therapies for individual swallowing function and develop validated assessments to optimize SMA management.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1137-1149"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11828825/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142770459","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-01Epub Date: 2024-10-11DOI: 10.1007/s10072-024-07783-3
Francesca Furia, Charlene Son Rigby, Ingrid E Scheffer, Nicholas Allen, Kate Baker, Christian Hengsbach, Josua Kegele, James Goss, Kathleen Gorman, Misra-Isrie Mala, Francesco Nicita, Talia Allan, Alberto Spalice, Yvonne Weber, Guido Rubboli, Rikke S Møller, Elena Gardella
Introduction: Pathogenic variants in STXBP1 cause a spectrum of disorders mainly consisting of developmental and epileptic encephalopathy (DEE), often featuring drug-resistant epilepsy. An increased mortality risk occurs in individuals with drug-resistant epilepsy and DEE, with sudden unexpected death in epilepsy (SUDEP) often the major cause of death. This study aimed to identify the rate and causes of mortality in STXBP1-related disorders.
Methods: Through an international call, we analyzed data on individuals with STXBP1 pathogenic variants, who passed away from causes related to their disease.
Results: We estimated a mortality rate of 3.2% (31/966), based on the STXBP1 Foundation and the STXBP1 Global Connect registry. In total, we analyzed data on 40 individuals (23 males) harboring pathogenic STXBP1 variants, collected from different centers worldwide. They died at a median age of 13 years (range: 11 months-46 years). The most common cause of death was SUDEP (36%), followed by pulmonary infections and respiratory complications (33%). The incidence of SUDEP peaked in mid-childhood, while non-SUDEP causes were more frequent in early childhood or adulthood (p = 0.006). In the most severe phenotypes, death was related to non-SUDEP causes (p = 0.018).
Conclusion: We found a mortality rate in STXBP1-related disorders similar to other DEEs, with an early age at death and SUDEP as well as pulmonary infections as the main cause of death. These findings assist in prognostic evaluation and genetic counseling for the families. They help to define the mortality risk of STXBP1-related disorders and implement preventative strategies.
{"title":"Early mortality in STXBP1-related disorders.","authors":"Francesca Furia, Charlene Son Rigby, Ingrid E Scheffer, Nicholas Allen, Kate Baker, Christian Hengsbach, Josua Kegele, James Goss, Kathleen Gorman, Misra-Isrie Mala, Francesco Nicita, Talia Allan, Alberto Spalice, Yvonne Weber, Guido Rubboli, Rikke S Møller, Elena Gardella","doi":"10.1007/s10072-024-07783-3","DOIUrl":"10.1007/s10072-024-07783-3","url":null,"abstract":"<p><strong>Introduction: </strong>Pathogenic variants in STXBP1 cause a spectrum of disorders mainly consisting of developmental and epileptic encephalopathy (DEE), often featuring drug-resistant epilepsy. An increased mortality risk occurs in individuals with drug-resistant epilepsy and DEE, with sudden unexpected death in epilepsy (SUDEP) often the major cause of death. This study aimed to identify the rate and causes of mortality in STXBP1-related disorders.</p><p><strong>Methods: </strong>Through an international call, we analyzed data on individuals with STXBP1 pathogenic variants, who passed away from causes related to their disease.</p><p><strong>Results: </strong>We estimated a mortality rate of 3.2% (31/966), based on the STXBP1 Foundation and the STXBP1 Global Connect registry. In total, we analyzed data on 40 individuals (23 males) harboring pathogenic STXBP1 variants, collected from different centers worldwide. They died at a median age of 13 years (range: 11 months-46 years). The most common cause of death was SUDEP (36%), followed by pulmonary infections and respiratory complications (33%). The incidence of SUDEP peaked in mid-childhood, while non-SUDEP causes were more frequent in early childhood or adulthood (p = 0.006). In the most severe phenotypes, death was related to non-SUDEP causes (p = 0.018).</p><p><strong>Conclusion: </strong>We found a mortality rate in STXBP1-related disorders similar to other DEEs, with an early age at death and SUDEP as well as pulmonary infections as the main cause of death. These findings assist in prognostic evaluation and genetic counseling for the families. They help to define the mortality risk of STXBP1-related disorders and implement preventative strategies.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1339-1347"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11828786/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142400845","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}