Seminars in Pediatric Neurology最新文献

{"title":"Pediatric Moyamoya Biomarkers: Narrowing the Knowledge Gap","authors":"Laura L. Lehman ,&nbsp;Matsanga Leyila Kaseka ,&nbsp;Jeffery Stout ,&nbsp;Alfred P. See ,&nbsp;Lisa Pabst ,&nbsp;Lisa R. Sun ,&nbsp;Sahar A. Hassanein ,&nbsp;Michaela Waak ,&nbsp;Arastoo Vossough ,&nbsp;Edward R. Smith ,&nbsp;Nomazulu Dlamini","doi":"10.1016/j.spen.2022.101002","DOIUrl":"10.1016/j.spen.2022.101002","url":null,"abstract":"<div><p><span>Moyamoya is a progressive cerebrovascular disorder that leads to stenosis of the arteries in the distal internal carotid, proximal middle cerebral and proximal </span>anterior cerebral arteries<span><span><span> of the circle of Willis. Typically a network of collaterals form to bypass the stenosis and maintain cerebral blood flow. As moyamoya progresses it affects the anterior circulation more commonly than posterior circulation, and cerebral blood flow becomes increasingly reliant on external carotid supply. Children with moyamoya are at increased risk for ischemic symptoms including stroke and </span>transient ischemic attacks (TIA). In addition, cognitive decline may occur over time, even in the absence of clinical stroke. Standard of care for stroke prevention in children with symptomatic moyamoya is </span>revascularization<span> surgery. Treatment<span> of children with asymptomatic moyamoya with revascularization surgery however remains more controversial. Therefore, biomarkers are needed to assist with not only diagnosis but also with determining ischemic risk and identifying best surgical candidates. In this review we will discuss the current knowledge as well as gaps in research in relation to pediatric moyamoya biomarkers including neurologic presentation, cognitive, neuroimaging, genetic and biologic biomarkers of disease severity and ischemic risk.</span></span></span></p></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"43 ","pages":"Article 101002"},"PeriodicalIF":2.7,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40460205","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}

{"title":"Closing the Gap in Pediatric Hemorrhagic Stroke: A Systematic Review","authors":"Samyami S. Chowdhury BSc(hons), MBChB, MRCPCH ,&nbsp;Alfred P. See MD ,&nbsp;Lars P. Eriksson BA, Grad Dip Lib ,&nbsp;Gregoire Boulouis MD, MPH, PhD ,&nbsp;Laura L. Lehman MD, MPH ,&nbsp;Dana B. Hararr MD, PhD ,&nbsp;Veda Zabih MPH ,&nbsp;Nomazulu Dlamini MD, MBBS, MRCPCH, MSc (Lon), PhD ,&nbsp;Christine Fox MD, MAS ,&nbsp;Michaela Waak MD, FCICM, FRACP","doi":"10.1016/j.spen.2022.101001","DOIUrl":"10.1016/j.spen.2022.101001","url":null,"abstract":"<div><p><span><span>Pediatric </span>hemorrhagic stroke (HS) accounts for a large proportion of childhood strokes, 1 of the top 10 causes of pediatric deaths. Morbidity and mortality lead to significant socio-economic and psychosocial burdens. To understand published data on recognizing and managing children with HS, we conducted a </span>systematic review<span> of the literature presented here. We searched PubMed, Embase, CINAHL and the Cochrane Library databases limited to English language and included 174 studies, most conducted in the USA (52%). Terminology used interchangeably for HS included intraparenchymal/intracranial hemorrhage, spontaneous ICH, and cerebrovascular accident (CVA).</span></p><p>Key assessments informing prognosis and management included clinical scoring (Glasgow coma scale), and neuroimaging. HS etiologies reported were systemic coagulopathy<span><span> (genetic, acquired pathologic, or iatrogenic), or focal cerebrovascular lesions<span> (brain arteriovenous malformations<span>, cavernous malformations, aneurysms, or tumor vascularity). Several scales were used to measure outcome: Glasgow outcome score (GOS), Kings outcome score for </span></span></span>head injury<span> (KOSCHI), modified Rankin scale<span> (mRS) and pediatric stroke outcome measure (PSOM).</span></span></span></p><p><span>Most studies described treatments<span> of at-risk lesions. Few studies described neurocritical care management including raised ICP, seizures, </span></span>vasospasm, or blood pressure.</p><p><span>Predictors of poor outcome included ethnicity, comorbidity, location of bleed, and </span>hematoma<span> &gt;2% of total brain volume. Motor and cognitive outcomes followed independent patterns. Few studies reported on cognitive outcomes, rehabilitation, and transition of care models. Interdisciplinary approach to managing HS is urgently needed, informed by larger cohort studies targeting key clinical question (eg development of a field-guide for the clinician managing patients with HS that is reproducible internationally).</span></p></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"43 ","pages":"Article 101001"},"PeriodicalIF":2.7,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40460207","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}

{"title":"Pediatric Stroke and Cardiac Disease: Challenges in Recognition and Management","authors":"Elizabeth W Mayne ,&nbsp;Janette A Mailo ,&nbsp;Lisa Pabst ,&nbsp;Elizabeth Pulcine ,&nbsp;Dana B Harrar ,&nbsp;Michaela Waak ,&nbsp;Mubeen F Rafay ,&nbsp;Sahar MA Hassanein ,&nbsp;Catherine Amlie-Lefond ,&nbsp;Lori C Jordan","doi":"10.1016/j.spen.2022.100992","DOIUrl":"10.1016/j.spen.2022.100992","url":null,"abstract":"","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"43 ","pages":"Article 100992"},"PeriodicalIF":2.7,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40450714","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}

{"title":"Acute Hospital Management of Pediatric Stroke","authors":"Taryn-Leigh Surtees ,&nbsp;Rachel Pearson ,&nbsp;Dana B. Harrar ,&nbsp;Sarah Lee ,&nbsp;Catherine M. Amlie-Lefond ,&nbsp;Kristin P. Guilliams","doi":"10.1016/j.spen.2022.100990","DOIUrl":"10.1016/j.spen.2022.100990","url":null,"abstract":"<div><p><span>The field of pediatric stroke has historically been hampered by limited evidence and small patient cohorts. However the landscape of childhood stroke is rapidly changing due in part to increasing awareness of the importance of pediatric stroke and the emergence of dedicated pediatric stroke centers, </span>care pathways<span>, and alert systems. Acute pediatric stroke management hinges on timely diagnosis confirmed by neuroimaging, appropriate consideration of recanalization<span> therapies, implementation of neuroprotective measures, and attention to secondary prevention. Because pediatric stroke is highly heterogenous in etiology, management strategies must be individualized. Determining a child's underlying stroke etiology is essential to appropriately tailoring hyperacute stroke management and determining best approach to secondary prevention. Herein, we review the methods of recognition, diagnosis, management, current knowledge gaps and promising research for pediatric stroke.</span></span></p></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"43 ","pages":"Article 100990"},"PeriodicalIF":2.7,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40460206","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}

{"title":"Neuroimaging in Pediatric Stroke","authors":"Bin Jiang MD, PhD ,&nbsp;Mark T. Mackay MBBS, PhD ,&nbsp;Nicholas Stence ,&nbsp;Trish Domi PhD ,&nbsp;Nomazulu Dlamini MD, PhD ,&nbsp;Warren Lo MD ,&nbsp;Max Wintermark MD, MAS","doi":"10.1016/j.spen.2022.100989","DOIUrl":"10.1016/j.spen.2022.100989","url":null,"abstract":"<div><p><span>Pediatric stroke is unfortunately not a rare condition. It is associated with severe disability and mortality because of the complexity of potential clinical manifestations, and the resulting delay in seeking care and in diagnosis. Neuroimaging plays an important role in the multidisciplinary response for pediatric stroke patients. The rapid development of adult endovascular </span>thrombectomy has created a new momentum in health professionals caring for pediatric stroke patients. Neuroimaging is critical to make decisions of identifying appropriate candidates for thrombectomy. This review article will review current neuroimaging techniques, imaging work-up strategies and special considerations in pediatric stroke. For resources limited areas, recommendation of substitute imaging approaches will be provided. Finally, promising new techniques and hypothesis-driven research protocols will be discussed.</p></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"43 ","pages":"Article 100989"},"PeriodicalIF":2.7,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40460208","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}

{"title":"Perinatal Stroke in Fetuses, Preterm and Term Infants","authors":"R. Srivastava ,&nbsp;J. Mailo ,&nbsp;M. Dunbar","doi":"10.1016/j.spen.2022.100988","DOIUrl":"10.1016/j.spen.2022.100988","url":null,"abstract":"<div><p><span>Perinatal stroke is a well-defined heterogenous group of disorders involving a focal disruption of cerebral blood flow between 20 weeks gestation and 28 days of postnatal life. The most focused lifetime risk for stroke occurs during the first week after birth. The morbidity of perinatal stroke is high, as it is the most common cause of hemiparetic </span>cerebral palsy<span> which results in lifelong disability that becomes more apparent throughout childhood. Perinatal strokes can be classified by the timing of diagnosis (acute or retrospective), vessel involved (arterial or venous), and underlying cause (hemorrhagic or ischemic). Perinatal stroke has primarily been reported as a disorder of term infants; however, the preterm brain possesses different vulnerabilities that predispose an infant to stroke injury both in utero and after birth. Accurate diagnosis of perinatal stroke syndromes has important implications for investigations, management, and prognosis. The classification of perinatal stroke by age at presentation (fetal, preterm neonatal, term neonatal, and infancy/childhood) is summarized in this review, and includes detailed descriptions of risk factors, diagnosis, treatment, outcomes, controversies, and resources for family support.</span></p></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"43 ","pages":"Article 100988"},"PeriodicalIF":2.7,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40460209","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}

{"title":"Hemostatic and Thrombotic Considerations in the Diagnosis and Management of Childhood Arterial Ischemic Stroke: A Narrative Review","authors":"Riten Kumar MD, MSc ,&nbsp;Lisa R. Sun MD ,&nbsp;Vilmarie Rodriguez MD, MS ,&nbsp;Amanda Sankar MD ,&nbsp;Mukta Sharma MD ,&nbsp;Avner Meoded MD ,&nbsp;Leonardo R. Brandão MD, MSc ,&nbsp;Neil A. Goldenberg MD, PhD","doi":"10.1016/j.spen.2022.101003","DOIUrl":"10.1016/j.spen.2022.101003","url":null,"abstract":"<div><p>Although rare in children, arterial ischemic stroke<span> (AIS) is associated with increased mortality and neurological morbidity. The incidence of AIS after the neonatal period<span><span><span><span> is approximately 1-2/100,000/year, with an estimated mortality of 3-7%. A significant proportion of children surviving AIS experience life-long neurological deficits including hemiparesis<span><span>, epilepsy, and cognitive delays. The low incidence of childhood AIS coupled with atypical clinical-presentation and lack of awareness contribute to delay in diagnosis and consequently, the early initiation of treatment. While randomized-clinical trials have demonstrated the efficacy and safety of </span>reperfusion therapies including </span></span>thrombolysis<span> and endovascular thrombectomy<span> in appropriately-selected adult patients, similar data for children are unavailable. Consequently, clinical decisions surrounding reperfusion therapy in childhood AIS are either extrapolated from adult data or based on local experience. The etiology of childhood AIS is multifactorial, often occurring in the setting of both acquired and congenital risk-factors including thrombophilia. While multiple studies have investigated the association of thrombophilia with incident childhood AIS, its impact on stroke recurrence and therefore duration and intensity of </span></span></span>antithrombotic therapy is less clear. Despite these limitations, a significant progress has been made over the last decade in the management of childhood AIS. This progress can be attributed to international consortiums, and in selected cohorts to federally-funded </span>clinical trials<span>. In this narrative review, the authors have systematically appraised the literature and summarize the hemostatic and thrombotic considerations in the diagnosis and management of childhood AIS focusing on the evidence supporting reperfusion therapies, relevance of thrombophilia testing, and duration and drug choices for secondary-prophylaxis.</span></span></span></p></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"43 ","pages":"Article 101003"},"PeriodicalIF":2.7,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40450713","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}

{"title":"Gene-Environment Interactions During the First Thousand Days Influence Childhood Neurological Diagnosis","authors":"Mark S. Scher","doi":"10.1016/j.spen.2022.100970","DOIUrl":"10.1016/j.spen.2022.100970","url":null,"abstract":"<div><p><span>Gene-environment (G x E) interactions significantly influence neurologic outcomes. The maternal-placental-fetal (MPF) triad, neonate, or child less than 2 years may first exhibit significant brain disorders. Neuroplasticity during the first 1000 days will more likely result in life-long effects given </span>critical periods of development<span><span><span>. Developmental origins and life-course principles help recognize changing neurologic phenotypes across ages. Dual diagnostic approaches are discussed using representative case scenarios to highlight time-dependent G x E interactions that contribute to neurologic sequelae. Horizontal analyses identify clinically relevant phenotypic form and function at different ages. Vertical analyses integrate the approach using systems-biology from genetic through multi-organ system interactions during each developmental age to understand etiopathogenesis. The process of ontogenetic adaptation results in immediate or delayed positive and negative outcomes specific to the developmental niche, expressed either as a healthy child or one with neurologic sequelae. Maternal immune activation, ischemic </span>placental disease<span><span><span><span>, and fetal inflammatory response represent prenatal disease pathways that contribute to fetal brain injuries. These processes involve G x E interactions within the MPF triad, phenotypically expressed as fetal </span>brain malformations<span> or destructive injuries within the MPF triad. A neonatal minority express encephalopathy, seizures<span>, stroke, and encephalopathy of prematurity as a continuum of trimester-specific G x E interactions. This group may later present with childhood sequelae. A healthy neonatal majority present at older ages with sequelae such as developmental disorders, epilepsy, mental health diseases, tumors, and neurodegenerative disease, often during the first 1000 days. Effective preventive, rescue, and reparative </span></span></span>neuroprotective strategies require consideration of G x E interactions interplay over time. Addressing maternal and </span>pediatric<span> health disparities will maximize medical equity with positive global outcomes that reduce the burden of </span></span></span>neurologic diseases across the lifespan.</span></p></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"42 ","pages":"Article 100970"},"PeriodicalIF":2.7,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40530023","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}

{"title":"Neurogenetic and Metabolic Mimics of Common Neonatal Neurological Disorders","authors":"William Burns ,&nbsp;Bimal P. Chaudhari ,&nbsp;Darrah N. Haffner","doi":"10.1016/j.spen.2022.100972","DOIUrl":"10.1016/j.spen.2022.100972","url":null,"abstract":"<div><p><span>Neurogenetic and metabolic diseases often present in the </span>neonatal period<span>, masquerading as other disorders, most commonly as neonatal encephalopathy and seizures<span><span>. Advancements in our understanding of inborn errors of metabolism are leading to an increasing number of therapeutic options. Many of these </span>treatments<span> can improve long-term neurodevelopment and seizure control. However, the treatments are frequently condition-specific. A high index of suspicion is required for prompt identification and treatment. When suspected, simultaneous metabolic and molecular testing are recommended along with concurrent treatment.</span></span></span></p></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"42 ","pages":"Article 100972"},"PeriodicalIF":2.7,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40530022","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}

{"title":"Prenatal Genetic Testing and Screening: A Focused Review","authors":"Valentina Caceres ,&nbsp;Thomas Murray ,&nbsp;Cortlandt Myers ,&nbsp;Kareesma Parbhoo","doi":"10.1016/j.spen.2022.100976","DOIUrl":"10.1016/j.spen.2022.100976","url":null,"abstract":"<div><p><span>Given the advancements in prenatal testing, child neurologists are becoming involved in earlier stages of patient care, often being consulted during the gestational stage rather than during the postnatal period<span><span><span><span>. Thus, it is essential that pediatric<span> neurologists understand the strengths and limitations of prenatal testing when counseling families. In this review we separate prenatal testing into screening and diagnostic testing. On the one hand, screening testing is noninvasive and does not have an increased risk for miscarriage. Diagnostic tests, on the other hand, are invasive and include chorionic villus sampling and </span></span>amniocentesis<span>. Understanding that screening tests are not diagnostic is imperative, therefore, attention should be placed on the positive and negative predictive values when interpreting results within the clinical context. Given their invasive nature, prenatal diagnostic tests increase the risk for complications such as miscarriage. Diagnostic tests include </span></span>biochemical marker testing, enzyme testing, </span>karyotype, microarray, </span></span>whole exome sequencing<span>, and whole genome sequencing. With each test, pretest and post-test counseling is crucial for informed decision making, and the strengths and limitations should be discussed when obtaining consent. Prior to obtaining testing, clinicians must consider unexpected and unrelated findings of testing and must acknowledge that the patient always has the option to decline the test.</span></p></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"42 ","pages":"Article 100976"},"PeriodicalIF":2.7,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40531508","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}