首页 > 最新文献

Seminars in Pediatric Neurology最新文献

英文 中文
Pediatric Stroke: Recognizing the Once Imperceptible 小儿中风:认识曾经的难以察觉
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2022-12-01 DOI: 10.1016/j.spen.2022.101027
E. Steve Roach MD
{"title":"Pediatric Stroke: Recognizing the Once Imperceptible","authors":"E. Steve Roach MD","doi":"10.1016/j.spen.2022.101027","DOIUrl":"10.1016/j.spen.2022.101027","url":null,"abstract":"","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"44 ","pages":"Article 101027"},"PeriodicalIF":2.7,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10359671","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}
引用次数: 0
Management of Pediatric Stroke - Challenges and Perspectives from Resource-limited Settings 管理儿童中风-挑战和观点从资源有限的设置
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2022-12-01 DOI: 10.1016/j.spen.2022.100996
Alvin Pumelele Ndondo , Charles K. Hammond

Childhood stroke is not as common as adult stroke, but it is underrecognized the world over. Diagnosis is often delayed due to lack of awareness not only by the lay public but also by emergency and front-line health care workers. Despite the relative rarity of childhood stroke, the impact on morbidity, mortality and the economic burden for families and society is high, especially in poorly resourced settings. The risk factors for stroke in children differ from the adult population where lifestyle factors play a more important role. The developmental aspects of the pediatric cerebral vasculature and hematological maturational biology affects the clinical presentation, investigation, management and outcomes of childhood stroke in a different way compared to adults. The management of childhood stroke is currently based on expert guidelines and evidence extrapolated from adult studies. Hyperacute therapies that have revolutionized the treatment of stroke in adults cannot be easily applied to children at this stage due to the diagnostic delays, diverse risk factors and developmental considerations mentioned above. Much has been achieved in the understanding of genetic, acquired, preventable and recurrent stroke risk factors in the past decade through international collaborative efforts like the International Pediatric Stroke Study. Evidence for the prevention and treatment of childhood stroke remains elusive. Even more elusive are relevant and achievable management guidelines for pediatric stroke in resource-limited settings. This narrative review focusses on the current management practices globally, emphasizing the challenges, and gaps in knowledge of pediatric stroke in low- and middle-income countries and other areas with limited resources. Priorities and some potential solutions at national and local level are suggested for these settings.

儿童中风不像成人中风那么常见,但在全世界都没有得到充分认识。诊断常常被延误,不仅是由于普通公众,而且由于急诊和一线卫生保健工作者缺乏认识。尽管儿童中风相对罕见,但对发病率、死亡率和家庭和社会的经济负担的影响很大,特别是在资源贫乏的环境中。儿童中风的危险因素与成人不同,成人的生活方式因素起着更重要的作用。与成人相比,儿童脑血管和血液成熟生物学的发育方面以不同的方式影响儿童中风的临床表现、调查、治疗和结局。目前,儿童中风的管理是基于专家指南和从成人研究中推断出来的证据。由于上述诊断延迟、多种危险因素和发育方面的考虑,已经彻底改变了成人中风治疗的超急性治疗在这个阶段不容易应用于儿童。在过去十年中,通过国际儿科卒中研究等国际合作努力,在了解遗传、获得性、可预防和复发性卒中危险因素方面取得了很大进展。预防和治疗儿童中风的证据仍然难以捉摸。更难以捉摸的是,在资源有限的情况下,儿科中风的相关和可实现的管理指南。这篇叙述性综述的重点是目前全球范围内的管理实践,强调中低收入国家和其他资源有限地区在小儿卒中知识方面的挑战和差距。针对这些情况,提出了国家和地方一级的优先事项和一些可能的解决办法。
{"title":"Management of Pediatric Stroke - Challenges and Perspectives from Resource-limited Settings","authors":"Alvin Pumelele Ndondo ,&nbsp;Charles K. Hammond","doi":"10.1016/j.spen.2022.100996","DOIUrl":"10.1016/j.spen.2022.100996","url":null,"abstract":"<div><p><span>Childhood stroke is not as common as adult stroke, but it is underrecognized the world over. Diagnosis is often delayed due to lack of awareness not only by the lay public but also by emergency and front-line health care<span> workers. Despite the relative rarity of childhood stroke, the impact on morbidity, mortality and the economic burden for families and society is high, especially in poorly resourced settings. The risk factors for stroke in children differ from the adult population where lifestyle factors play a more important role. The developmental aspects of the pediatric cerebral </span></span>vasculature<span><span> and hematological maturational biology affects the clinical presentation, investigation, management and outcomes of childhood stroke in a different way compared to adults. The management of childhood stroke is currently based on expert guidelines and evidence extrapolated from adult studies. Hyperacute therapies that have revolutionized the treatment of stroke in adults cannot be easily applied to children at this stage due to the diagnostic delays, diverse risk factors and developmental considerations mentioned above. Much has been achieved in the understanding of genetic, acquired, preventable and recurrent stroke risk factors in the past decade through international collaborative efforts like the International </span>Pediatric Stroke Study. Evidence for the prevention and treatment of childhood stroke remains elusive. Even more elusive are relevant and achievable management guidelines for pediatric stroke in resource-limited settings. This narrative review focusses on the current management practices globally, emphasizing the challenges, and gaps in knowledge of pediatric stroke in low- and middle-income countries and other areas with limited resources. Priorities and some potential solutions at national and local level are suggested for these settings.</span></p></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"44 ","pages":"Article 100996"},"PeriodicalIF":2.7,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10353324","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}
引用次数: 3
Thank You Note 感谢信
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2022-12-01 DOI: 10.1016/S1071-9091(22)00076-6
{"title":"Thank You Note","authors":"","doi":"10.1016/S1071-9091(22)00076-6","DOIUrl":"https://doi.org/10.1016/S1071-9091(22)00076-6","url":null,"abstract":"","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"44 ","pages":"Article 101028"},"PeriodicalIF":2.7,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1071909122000766/pdfft?md5=21862b379dc0bdb7dd94a24212055e0c&pid=1-s2.0-S1071909122000766-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138368697","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}
引用次数: 0
Diagnosis of Pediatric Stroke in Resource Limited Settings 在资源有限的环境下诊断儿童中风
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2022-12-01 DOI: 10.1016/j.spen.2022.100997
Marilyn A. Tan MD , Elbert John V. Layug MD , Bhanu Pratap Singh MD , Manish Parakh MD

Global awareness of stroke as a significant cause of neurologic sequelae and death in children has increased over the years as more data in this field becomes available. However, most published literature on pediatric stroke have limited geographic representation. Data on childhood stroke from developing countries remains limited. Thus, this paper reviewed geographic/ethnic differences in pediatric stroke risk factors highlighting those reported in low- and middle-income countries, and proposes a childhood arterial ischemic stroke diagnostic algorithm for resource limited settings. Stroke risk factors include cardiac disorders, infectious diseases, cerebral arteriopathies, hematologic disorders, inflammatory diseases, thrombophilia and genetic conditions. Infection of the central nervous system particularly tuberculous meningitis, is a leading cause of pediatric arterial ischemic stroke in developing countries. Stroke should be considered in children with acute focal neurologic deficit especially in the presence of aforementioned risk factors. Cranial magnetic resonance imaging with angiography is the neuroimaging modality of choice but if unavailable, cranial computed tomography with angiography may be performed as an alternative. If both are not available, transcranial doppler together with neurologic exam may be used to screen children for arterial ischemic stroke. Etiological diagnosis follows with the aid of appropriate laboratory tests that are available in each level of care. International collaborative research on stroke risk factors that are prevalent in low and middle income countries will provide information for drafting of stroke care guidelines that are universal yet inclusive taking into consideration regional differences in available resources with the goal of reducing global stroke burden.

多年来,随着这一领域的数据越来越多,全球对中风作为儿童神经系统后遗症和死亡的重要原因的认识有所提高。然而,大多数已发表的关于儿童中风的文献具有有限的地理代表性。发展中国家关于儿童中风的数据仍然有限。因此,本文回顾了低收入和中等收入国家儿童卒中危险因素的地理/种族差异,并提出了一种资源有限的儿童动脉缺血性卒中诊断算法。中风的危险因素包括心脏病、传染病、脑动脉病变、血液病、炎症性疾病、血栓病和遗传性疾病。中枢神经系统感染,特别是结核性脑膜炎,是发展中国家儿童动脉缺血性中风的主要原因。急性局灶性神经功能缺损的儿童应考虑中风,特别是在存在上述危险因素的情况下。颅磁共振血管成像是首选的神经成像方式,但如果不可用,颅计算机断层扫描血管成像可以作为替代。如果两者都不可用,经颅多普勒联合神经系统检查可用于筛查儿童动脉缺血性卒中。病因诊断是在适当的实验室检测的帮助下进行的,这些检测在每个级别的护理中都有。对中低收入国家普遍存在的卒中危险因素进行国际合作研究,将为制定具有普遍性和包容性的卒中护理指南提供信息,同时考虑到可用资源的区域差异,以减轻全球卒中负担。
{"title":"Diagnosis of Pediatric Stroke in Resource Limited Settings","authors":"Marilyn A. Tan MD ,&nbsp;Elbert John V. Layug MD ,&nbsp;Bhanu Pratap Singh MD ,&nbsp;Manish Parakh MD","doi":"10.1016/j.spen.2022.100997","DOIUrl":"10.1016/j.spen.2022.100997","url":null,"abstract":"<div><p>Global awareness of stroke as a significant cause of neurologic sequelae and death in children has increased over the years as more data in this field becomes available. However, most published literature on pediatric stroke have limited geographic representation. Data on childhood stroke from developing countries remains limited. Thus, this paper reviewed geographic/ethnic differences in pediatric stroke risk factors highlighting those reported in low- and middle-income countries, and proposes a childhood arterial ischemic stroke diagnostic algorithm for resource limited settings. Stroke risk factors include cardiac disorders, infectious diseases, cerebral arteriopathies, hematologic disorders, inflammatory diseases, thrombophilia and genetic conditions. Infection of the central nervous system particularly tuberculous meningitis, is a leading cause of pediatric arterial ischemic stroke in developing countries. Stroke should be considered in children with acute focal neurologic deficit especially in the presence of aforementioned risk factors. Cranial magnetic resonance imaging with angiography is the neuroimaging modality of choice but if unavailable, cranial computed tomography with angiography may be performed as an alternative. If both are not available, transcranial doppler together with neurologic exam may be used to screen children for arterial ischemic stroke. Etiological diagnosis follows with the aid of appropriate laboratory tests that are available in each level of care. International collaborative research on stroke risk factors that are prevalent in low and middle income countries will provide information for drafting of stroke care guidelines that are universal yet inclusive taking into consideration regional differences in available resources with the goal of reducing global stroke burden.</p></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"44 ","pages":"Article 100997"},"PeriodicalIF":2.7,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10352863","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}
引用次数: 1
Rehabilitation in Pediatric Stroke: Cognition and Behavior 儿童中风的康复:认知和行为
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2022-12-01 DOI: 10.1016/j.spen.2022.100998
Christine Mrakotsky , Tricia S. Williams , Kevin A. Shapiro , Robyn Westmacott

Pediatric stroke is associated with a range of maladaptive cognitive and behavioral outcomes that often require targeted intervention. Despite increasing research on neuropsychological outcomes over the past decade, evidence for effective therapies and interventions for the most commonly reported cognitive and behavioral challenges is still limited. The most widely prescribed interventions address more overt deficits in sensorimotor and speech/language functions, yet interventions for higher-order cognitive, linguistic and behavioral deficits are notably less defined. Moreover, concepts of rehabilitation in adult stroke cannot be easily translated directly to pediatric populations because the effect of stroke and recovery in the developing brain takes a very different course than in the mature brain. In pediatric stroke, neuropsychological deficits often emerge gradually over time necessitating a long-term approach to intervention. Furthermore, family and school context often play a much larger role. The goal of this review is to describe cognitive and behavioral interventions for perinatal and childhood stroke, as motor rehabilitation is covered elsewhere in this issue. We also discuss cognitive aspects of current rehabilitative therapies and technology. Acknowledging the current limited state of stroke-specific rehabilitation research in children, findings from pediatric acquired brain injury intervention and use of transdiagnostic approaches lend important insights. Because there is limited support for single domain (cognitive) trainings and translation of research rehabilitation programs to clinical practice can be challenging, the value of holistic multidisciplinary approaches to improve everyday function in children and adolescents following stroke is emphasized.

儿童中风与一系列认知和行为不良相关,通常需要有针对性的干预。尽管在过去十年中对神经心理学结果的研究越来越多,但对最常见的认知和行为挑战的有效治疗和干预的证据仍然有限。最广泛规定的干预措施针对的是感觉运动和言语/语言功能的明显缺陷,而针对高阶认知、语言和行为缺陷的干预措施则明显缺乏定义。此外,成人中风康复的概念不能很容易地直接转化为儿科人群,因为中风的影响和恢复在发育中的大脑与在成熟的大脑中有着非常不同的过程。在小儿中风中,神经心理缺陷往往随着时间的推移逐渐出现,需要长期的干预方法。此外,家庭和学校环境往往起着更大的作用。这篇综述的目的是描述围产期和儿童期中风的认知和行为干预,因为运动康复在这一问题的其他地方被覆盖。我们还讨论了当前康复治疗和技术的认知方面。认识到目前儿童中风特异性康复研究的有限状态,来自儿童获得性脑损伤干预和使用跨诊断方法的研究结果提供了重要的见解。由于对单一领域(认知)训练的支持有限,并且将研究康复计划转化为临床实践可能具有挑战性,因此强调了整体多学科方法改善儿童和青少年中风后日常功能的价值。
{"title":"Rehabilitation in Pediatric Stroke: Cognition and Behavior","authors":"Christine Mrakotsky ,&nbsp;Tricia S. Williams ,&nbsp;Kevin A. Shapiro ,&nbsp;Robyn Westmacott","doi":"10.1016/j.spen.2022.100998","DOIUrl":"10.1016/j.spen.2022.100998","url":null,"abstract":"<div><p><span><span>Pediatric stroke is associated with a range of maladaptive cognitive and behavioral outcomes that often require targeted intervention. Despite increasing research on neuropsychological outcomes over the past decade, evidence for effective therapies and interventions for the most commonly reported cognitive and behavioral challenges is still limited. The most widely prescribed interventions address more overt deficits in sensorimotor and speech/language functions, yet interventions for higher-order cognitive, linguistic and behavioral deficits are notably less defined. Moreover, concepts of rehabilitation in adult stroke cannot be easily translated directly to pediatric populations because the effect of stroke and recovery in the developing brain takes a very different course than in the mature brain. In </span>pediatric stroke, neuropsychological deficits often emerge gradually over time necessitating a long-term approach to intervention. Furthermore, family and school context often play a much larger role. The goal of this review is to describe cognitive and behavioral interventions for perinatal and childhood stroke, as motor rehabilitation is covered elsewhere in this issue. We also discuss cognitive aspects of current rehabilitative therapies and technology. Acknowledging the current limited state of stroke-specific rehabilitation research in children, findings from pediatric </span>acquired brain injury intervention and use of transdiagnostic approaches lend important insights. Because there is limited support for single domain (cognitive) trainings and translation of research rehabilitation programs to clinical practice can be challenging, the value of holistic multidisciplinary approaches to improve everyday function in children and adolescents following stroke is emphasized.</p></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"44 ","pages":"Article 100998"},"PeriodicalIF":2.7,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10353325","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}
引用次数: 3
Neurological and Functional Outcomes after Pediatric Stroke 小儿中风后的神经和功能预后
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2022-12-01 DOI: 10.1016/j.spen.2022.100991
Laura A. Malone MD PhD , Todd J. Levy MS, OTR/L , Rachel K. Peterson PhD , Ryan J. Felling MD PhD , Lauren A. Beslow MD, MSCE

Pediatric stroke results in life-long morbidity for many patients, but the outcomes can vary depending on factors such as age of injury, or mechanism, size, and location of stroke. In this review, we summarize the current understanding of outcomes in different neurological domains (eg, motor, cognitive, language) for children with stroke of different mechanisms (ie, arterial ischemic stroke, cerebral sinus venous thrombosis, and hemorrhagic stroke), but with a focus on World Health Organization International Classification for Functioning, Disability, and Health (ICF-CY) framework for measuring health and disability for children and youth. We describe outcomes for the population as a whole and certain factors that may further refine prognostication.

儿童中风导致许多患者终身发病,但结果可能因损伤年龄、机制、大小和中风部位等因素而异。在这篇综述中,我们总结了目前对不同机制中风(即动脉缺血性中风、脑窦静脉血栓形成和出血性中风)的儿童在不同神经学领域(如运动、认知、语言)的结局的理解,但重点是世界卫生组织国际功能、残疾和健康分类(ICF-CY)框架,用于衡量儿童和青少年的健康和残疾。我们描述了整个人群的结果,以及可能进一步完善预测的某些因素。
{"title":"Neurological and Functional Outcomes after Pediatric Stroke","authors":"Laura A. Malone MD PhD ,&nbsp;Todd J. Levy MS, OTR/L ,&nbsp;Rachel K. Peterson PhD ,&nbsp;Ryan J. Felling MD PhD ,&nbsp;Lauren A. Beslow MD, MSCE","doi":"10.1016/j.spen.2022.100991","DOIUrl":"10.1016/j.spen.2022.100991","url":null,"abstract":"<div><p><span>Pediatric stroke results in life-long morbidity for many patients, but the outcomes can vary depending on factors such as age of injury, or mechanism, size, and location of stroke. In this review, we summarize the current understanding of outcomes in different neurological domains (eg, motor, cognitive, language) for children with stroke of different mechanisms (ie, arterial </span>ischemic stroke, cerebral sinus venous thrombosis, and hemorrhagic stroke), but with a focus on World Health Organization International Classification for Functioning, Disability, and Health (ICF-CY) framework for measuring health and disability for children and youth. We describe outcomes for the population as a whole and certain factors that may further refine prognostication.</p></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"44 ","pages":"Article 100991"},"PeriodicalIF":2.7,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10352864","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}
引用次数: 3
The Genetic Landscape of Ischemic Stroke in Children - Current Knowledge and Future Perspectives 儿童缺血性中风的遗传景观-目前的知识和未来的展望
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2022-12-01 DOI: 10.1016/j.spen.2022.100999
Moran Hausman-Kedem MD , Rachelle Herring MD , Marcela D Torres MD , Jonathan D. Santoro MD , Matsanga Leyila Kaseka MD, MSc , Carolina Vargas MD , Giulia Amico MD , Marta Bertamino MD, PhD , Deepti Nagesh MD , Jo Tilley DNP, CPNP , Allyson Schenk MPH , Shay Ben-Shachar MD , Patricia L. Musolino MD PhD

Stroke in childhood has multiple etiologies, which are mostly distinct from those in adults. Genetic discoveries over the last decade pointed to monogenic disorders as a rare but significant cause of ischemic stroke in children and young adults, including small vessel and arterial ischemic stroke. These discoveries contributed to the understanding that stroke in children may be a sign of an underlying genetic disease. The identification of these diseases requires a detailed medical and family history collection, a careful clinical evaluation for the detection of systemic symptoms and signs, and neuroimaging assessment. Establishing an accurate etiological diagnosis and understanding the genetic risk factors for stroke are essential steps to decipher the underlying mechanisms, optimize the design of tailored prevention strategies, and facilitate the identification of novel therapeutic targets in some cases. Despite the increasing recognition of monogenic causes of stroke, genetic disorders remain understudied and therefore under-recognized in children with stroke. Increased awareness among healthcare providers is essential to facilitate accurate diagnosis in a timely manner. In this review, we provide a summary of the main single-gene disorders which may present as ischemic stroke in childhood and describe their clinical manifestations. We provide a set of practical suggestions for the diagnostic work up of these uncommon causes of stroke, based upon the stroke subtype and imaging characteristics that may suggest a monogenic diagnosis of ischemic stroke in children. Current hurdles in the genetic analyses of children with ischemic stroke as well as future prospectives are discussed.

儿童中风有多种病因,主要不同于成人中风。过去十年的遗传学发现指出,单基因疾病是儿童和年轻人缺血性中风的一种罕见但重要的原因,包括小血管和动脉缺血性中风。这些发现有助于理解儿童中风可能是一种潜在遗传疾病的征兆。这些疾病的识别需要详细的病史和家族史收集,仔细的临床评估以检测全身症状和体征,以及神经影像学评估。建立准确的病因学诊断和了解中风的遗传危险因素是破译潜在机制、优化量身定制的预防策略设计和促进在某些情况下识别新的治疗靶点的必要步骤。尽管人们越来越认识到中风的单基因原因,但遗传性疾病仍未得到充分研究,因此在中风儿童中未得到充分认识。提高医疗保健提供者的认识对于促进及时准确诊断至关重要。在这篇综述中,我们提供了主要的单基因疾病的总结,可能表现为缺血性脑卒中的儿童和描述他们的临床表现。我们提供了一套实用的建议,以诊断这些不常见的原因的中风,基于中风的亚型和影像学特征,可能建议单基因诊断缺血性中风在儿童。目前的障碍,在遗传分析的儿童缺血性卒中以及未来的前景进行了讨论。
{"title":"The Genetic Landscape of Ischemic Stroke in Children - Current Knowledge and Future Perspectives","authors":"Moran Hausman-Kedem MD ,&nbsp;Rachelle Herring MD ,&nbsp;Marcela D Torres MD ,&nbsp;Jonathan D. Santoro MD ,&nbsp;Matsanga Leyila Kaseka MD, MSc ,&nbsp;Carolina Vargas MD ,&nbsp;Giulia Amico MD ,&nbsp;Marta Bertamino MD, PhD ,&nbsp;Deepti Nagesh MD ,&nbsp;Jo Tilley DNP, CPNP ,&nbsp;Allyson Schenk MPH ,&nbsp;Shay Ben-Shachar MD ,&nbsp;Patricia L. Musolino MD PhD","doi":"10.1016/j.spen.2022.100999","DOIUrl":"10.1016/j.spen.2022.100999","url":null,"abstract":"<div><p><span>Stroke in childhood has multiple etiologies, which are mostly distinct from those in adults. Genetic discoveries over the last decade pointed to monogenic disorders as a rare but significant cause of </span>ischemic stroke<span> in children and young adults, including small vessel and arterial ischemic stroke. These discoveries contributed to the understanding that stroke in children may be a sign of an underlying genetic disease. The identification of these diseases requires a detailed medical and family history collection, a careful clinical evaluation<span> for the detection of systemic symptoms and signs, and neuroimaging assessment. Establishing an accurate etiological diagnosis and understanding the genetic risk factors for stroke are essential steps to decipher the underlying mechanisms, optimize the design of tailored prevention strategies, and facilitate the identification of novel therapeutic targets in some cases. Despite the increasing recognition of monogenic causes of stroke, genetic disorders remain understudied and therefore under-recognized in children with stroke. Increased awareness among healthcare providers is essential to facilitate accurate diagnosis in a timely manner. In this review, we provide a summary of the main single-gene disorders which may present as ischemic stroke in childhood and describe their clinical manifestations. We provide a set of practical suggestions for the diagnostic work up of these uncommon causes of stroke, based upon the stroke subtype and imaging characteristics that may suggest a monogenic diagnosis of ischemic stroke in children. Current hurdles in the genetic analyses of children with ischemic stroke as well as future prospectives are discussed.</span></span></p></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"44 ","pages":"Article 100999"},"PeriodicalIF":2.7,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10014730","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}
引用次数: 3
The Role of Infection and Inflammation in the Pathogenesis of Pediatric Arterial Ischemic Stroke 感染和炎症在小儿动脉缺血性脑卒中发病中的作用
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2022-12-01 DOI: 10.1016/j.spen.2022.100995
Marie-Coralie Cornet , Charles Grose , Zinaida Vexler , Yvonne W. Wu , Heather J. Fullerton

Infections play an important role in the pathogenesis of acute ischemic stroke (AIS) in neonates and children. In neonates, chorioamnionitis or intrauterine inflammation has been implicated as a common risk factor for AIS. In infants and children, recent investigations demonstrated that even minor childhood infections are associated with subsequent increased risk for AIS. Post-infectious inflammatory mechanisms following infections with herpesviruses may lead to focal cerebral arteriopathy (FCA), one of the most common causes of AIS in a previously healthy child. Other agents such as parvovirus B19, dengue virus, and SARS-CoV-2 have recently been implicated as other potential triggers. Infections are compelling treatable stroke risk factors, with available therapies for both pathogens and downstream inflammatory effects. However, infections are common in childhood, while stroke is uncommon. The ongoing VIPS II (Vascular effects of Infection in Pediatric Stroke) study aims to identify the array of pathogens that may lead to childhood AIS and whether either unusual strains or unusual combinations of pathogens explain this paradox. Immune modulation with corticosteroids for FCA is another active area of research, with European and U.S. trials launching soon. The results of these new pediatric stroke studies combined with findings emerging from the larger field of immune-mediated post-infectious diseases will likely lead to new approaches to the prevention and treatment of pediatric stroke. This review highlights recent developments from both clinical and animal model research enhancing our understanding of this relationship between infection, inflammation, and stroke in neonates and children.

感染在新生儿和儿童急性缺血性脑卒中(AIS)的发病机制中起着重要作用。在新生儿中,绒毛膜羊膜炎或宫内炎症被认为是AIS的常见危险因素。在婴儿和儿童中,最近的调查表明,即使是轻微的儿童感染也与随后的AIS风险增加有关。疱疹病毒感染后的感染后炎症机制可能导致局灶性脑动脉病变(FCA),这是先前健康儿童AIS的最常见原因之一。其他病原体,如细小病毒B19、登革热病毒和SARS-CoV-2,最近被认为是其他潜在的触发因素。感染是令人信服的可治疗的卒中危险因素,既有针对病原体的治疗方法,也有针对下游炎症反应的治疗方法。然而,感染在儿童时期很常见,而中风则不常见。正在进行的VIPS II(儿童中风感染的血管效应)研究旨在确定一系列可能导致儿童AIS的病原体,以及异常菌株或异常病原体组合是否解释了这一悖论。用皮质类固醇治疗FCA的免疫调节是另一个活跃的研究领域,欧洲和美国的试验即将启动。这些新的儿童卒中研究的结果与免疫介导的感染后疾病的更大领域的发现相结合,可能会导致预防和治疗儿童卒中的新方法。这篇综述强调了临床和动物模型研究的最新进展,增强了我们对新生儿和儿童感染、炎症和中风之间关系的理解。
{"title":"The Role of Infection and Inflammation in the Pathogenesis of Pediatric Arterial Ischemic Stroke","authors":"Marie-Coralie Cornet ,&nbsp;Charles Grose ,&nbsp;Zinaida Vexler ,&nbsp;Yvonne W. Wu ,&nbsp;Heather J. Fullerton","doi":"10.1016/j.spen.2022.100995","DOIUrl":"10.1016/j.spen.2022.100995","url":null,"abstract":"<div><p>Infections play an important role in the pathogenesis of acute ischemic stroke (AIS) in neonates and children. In neonates, chorioamnionitis or intrauterine inflammation has been implicated as a common risk factor for AIS. In infants and children, recent investigations demonstrated that even minor childhood infections are associated with subsequent increased risk for AIS. Post-infectious inflammatory mechanisms following infections with herpesviruses may lead to focal cerebral arteriopathy (FCA), one of the most common causes of AIS in a previously healthy child. Other agents such as parvovirus B19, dengue virus, and SARS-CoV-2 have recently been implicated as other potential triggers. Infections are compelling treatable stroke risk factors, with available therapies for both pathogens and downstream inflammatory effects. However, infections are common in childhood, while stroke is uncommon. The ongoing VIPS II (Vascular effects of Infection in Pediatric Stroke) study aims to identify the array of pathogens that may lead to childhood AIS and whether either unusual strains or unusual combinations of pathogens explain this paradox. Immune modulation with corticosteroids for FCA is another active area of research, with European and U.S. trials launching soon. The results of these new pediatric stroke studies combined with findings emerging from the larger field of immune-mediated post-infectious diseases will likely lead to new approaches to the prevention and treatment of pediatric stroke. This review highlights recent developments from both clinical and animal model research enhancing our understanding of this relationship between infection, inflammation, and stroke in neonates and children.</p></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"44 ","pages":"Article 100995"},"PeriodicalIF":2.7,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1071909122000432/pdfft?md5=0d01239ebe0bdea51b78260972c1aa2b&pid=1-s2.0-S1071909122000432-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10353323","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}
引用次数: 2
Cerebral Sinovenous Thrombosis in Infants and Children: A Practical Approach to Management 婴幼儿脑静脉血栓形成:一种实用的治疗方法
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2022-12-01 DOI: 10.1016/j.spen.2022.100993
Noa Mandel-Shorer , Christine A. Sabapathy , Pradeep Krishnan , Mukta Sharma , Neil A. Goldenberg , Leonardo R. Brandão , Mahendranath D. Moharir

Cerebral sinovenous thrombosis (CSVT) is a rare, yet potentially devastating disorder, associated with acute complications and long-term neurologic sequelae. Consensus-based international pediatric CSVT treatment guidelines emphasize early clinical-radiologic recognition and prompt consideration for anticoagulation therapy. However, lack of clinical trials has precluded evidence-based patient selection, anticoagulant choice, optimal monitoring parameters and treatment duration. Consequently, uncertainties and controversies persist regarding anticoagulation practices in pediatric CSVT. This review focuses on commonly encountered issues that continue to pose questions and raise debates regarding anticoagulation therapy among pediatric neurologists and hematologists.

脑静脉血栓形成(CSVT)是一种罕见的,但潜在的破坏性疾病,与急性并发症和长期神经系统后遗症有关。基于共识的国际儿科CSVT治疗指南强调早期临床-放射学识别和及时考虑抗凝治疗。然而,缺乏临床试验妨碍了循证患者选择、抗凝剂选择、最佳监测参数和治疗时间。因此,关于儿科CSVT抗凝实践的不确定性和争议持续存在。这篇综述的重点是儿科神经学家和血液学家在抗凝治疗方面经常遇到的问题和争论。
{"title":"Cerebral Sinovenous Thrombosis in Infants and Children: A Practical Approach to Management","authors":"Noa Mandel-Shorer ,&nbsp;Christine A. Sabapathy ,&nbsp;Pradeep Krishnan ,&nbsp;Mukta Sharma ,&nbsp;Neil A. Goldenberg ,&nbsp;Leonardo R. Brandão ,&nbsp;Mahendranath D. Moharir","doi":"10.1016/j.spen.2022.100993","DOIUrl":"10.1016/j.spen.2022.100993","url":null,"abstract":"<div><p><span><span><span><span>Cerebral sinovenous thrombosis (CSVT) is a rare, yet potentially devastating disorder, associated with acute complications and long-term neurologic sequelae. Consensus-based international </span>pediatric<span> CSVT treatment guidelines emphasize early clinical-radiologic recognition and prompt consideration for </span></span>anticoagulation therapy. However, lack of </span>clinical trials has precluded evidence-based patient selection, </span>anticoagulant<span> choice, optimal monitoring parameters and treatment duration. Consequently, uncertainties and controversies persist regarding anticoagulation practices in pediatric CSVT. This review focuses on commonly encountered issues that continue to pose questions and raise debates regarding anticoagulation therapy among pediatric neurologists and hematologists.</span></p></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"44 ","pages":"Article 100993"},"PeriodicalIF":2.7,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10359672","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}
引用次数: 1
Cerebral Arteriopathies of Childhood – Current Approaches 儿童脑动脉病变-目前的方法
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2022-10-01 DOI: 10.1016/j.spen.2022.101004
Daniel Davila-Williams , Megan Barry , Carolina Vargas , Arastoo Vossough , Timothy J. Bernard , Mubeen F. Rafay

Up to more than half of previously healthy children presenting with their first arterial ischemic stroke have a cerebral arteriopathy. Cerebral arteriopathies during childhood can be congenital, reflecting abnormal vessel development, or acquired when caused by disruption of vascular homeostasis. Distinguishing different types of cerebral arteriopathies in children can be challenging but of great clinical value as they may dictate different disease and treatment courses, and clinical and radiologic outcomes. Furthermore, children with stroke due to a specific arteriopathy exhibit distinctive features when compared to those with stroke due to other causes or a different type of arteriopathy. These features become crucial in the management of pediatric stroke by choosing appropriate diagnostic and treatment strategies. The objective of this article is to provide the reader with a comprehensive up-to-date review of the classification, symptoms, diagnosis, treatment, and outcome of cerebral arteriopathies in children.

超过一半以前健康的儿童出现他们的第一次动脉缺血性中风有脑动脉病变。儿童时期的脑动脉病变可能是先天性的,反映了血管发育异常,也可能是由于血管稳态被破坏而获得的。区分儿童不同类型的脑动脉病变可能具有挑战性,但具有重要的临床价值,因为它们可能指示不同的疾病和治疗过程,以及临床和放射学结果。此外,与其他原因或不同类型的动脉病变引起的中风相比,由于特定动脉病变引起的中风儿童表现出不同的特征。这些特征在选择适当的诊断和治疗策略时对小儿中风的管理至关重要。这篇文章的目的是为读者提供一个全面的最新的审查分类,症状,诊断,治疗,并在儿童脑动脉病变的结果。
{"title":"Cerebral Arteriopathies of Childhood – Current Approaches","authors":"Daniel Davila-Williams ,&nbsp;Megan Barry ,&nbsp;Carolina Vargas ,&nbsp;Arastoo Vossough ,&nbsp;Timothy J. Bernard ,&nbsp;Mubeen F. Rafay","doi":"10.1016/j.spen.2022.101004","DOIUrl":"10.1016/j.spen.2022.101004","url":null,"abstract":"<div><p>Up to more than half of previously healthy children presenting with their first arterial ischemic stroke<span> have a cerebral arteriopathy<span><span><span>. Cerebral arteriopathies during childhood can be congenital, reflecting abnormal vessel development, or acquired when caused by disruption of vascular homeostasis. Distinguishing different types of cerebral arteriopathies in children can be challenging but of great clinical value as they may dictate different disease and </span>treatment courses, and clinical and radiologic outcomes. Furthermore, children with stroke due to a specific arteriopathy exhibit distinctive features when compared to those with stroke due to other causes or a different type of arteriopathy. These features become crucial in the management of </span>pediatric stroke by choosing appropriate diagnostic and treatment strategies. The objective of this article is to provide the reader with a comprehensive up-to-date review of the classification, symptoms, diagnosis, treatment, and outcome of cerebral arteriopathies in children.</span></span></p></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"43 ","pages":"Article 101004"},"PeriodicalIF":2.7,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40460204","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}
引用次数: 1
期刊
Seminars in Pediatric Neurology
全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1