Seminars in Pediatric Neurology最新文献

{"title":"Commentary: Profiling Children With Cerebral Visual Impairment (CVI) Using Multiple Methods of Assessment to Aid in Differential Diagnosis","authors":"Amanda H. Lueck ,&nbsp;Sylvie Chokron ,&nbsp;Gordon N. Dutton","doi":"10.1016/j.spen.2023.101070","DOIUrl":"10.1016/j.spen.2023.101070","url":null,"abstract":"<div><h3>Profiling Children With Cerebral Visual Impairment Using Multiple Methods of Assessment to Aid in Differential Diagnosis</h3><p>Amanda H. Lueck , Gordon N. Dutton , Sylvie Chokron Seminars in Pediatric Neurology Volume 31, October 2019, Pages 5–14</p><p>Cerebral (cortical) visual impairment (CVI), the primary cause of visual impairment in chil dren in high-income countries, is increasing globally due to improved life-saving measures for premature and full-term infants. Yet the consequences of this condition are only begin ning to be understood and addressed. According to the topography, site, and the extent of the pathology, the deficit may variably concern central visual functions, visual field, percep tion of movement, visual analysis, visual exploration, attention, or visual memory, as well as visual guidance of movement. Each affected child has a unique clinical picture, which needs to be identified and individually profiled. This is probably the underlying reason that CVI is commonly underdiagnosed or misdiagnosed, especially in children, and, as a consequence, the full range of potential behavioral outcomes are not identified and adequately addressed. The present paper shows how the use of multiple methods of assessment can improve understanding of children with CVI.</p></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"47 ","pages":"Article 101070"},"PeriodicalIF":2.7,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45203330","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":"Commentary on “Brain Injury During Transition in the Newborn With Congenital Heart Disease: Hazards of the Preoperative Period”","authors":"Jennifer M. Lynch ,&nbsp;J. William Gaynor ,&nbsp;Daniel J. Licht","doi":"10.1016/j.spen.2023.101075","DOIUrl":"10.1016/j.spen.2023.101075","url":null,"abstract":"<div><h3>Brain Injury During Transition in the Newborn With Congenital Heart Disease: Hazards of the Preoperative Period</h3><p>Jennifer M. Lynch, J. William Gaynor, Daniel J. Licht Seminars in Pediatric Neurology Volume 28, December 2018, Pages 60–65</p><p>Infants born with critical congenital heart disease are at risk for neurodevelopmental morbidities later in life. In-utero differences in fetal circulation lead to vulnerabilities which lead to an increased incidence of stroke, white matter injury, and brain immaturity. Recent work has shown these infants may be most vulnerable to brain injury during the early neonatal period when they are awaiting their cardiac surgeries. Novel imaging and monitoring modalities are being employed to investigate this crucial time period and elucidate the precise timing and cause of brain injury in this population.</p></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"47 ","pages":"Article 101075"},"PeriodicalIF":2.7,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47437291","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":"Commentary on the Paper “Effect of Seizures on the Developing Brain and Cognition”","authors":"Gregory L. Holmes","doi":"10.1016/j.spen.2023.101080","DOIUrl":"10.1016/j.spen.2023.101080","url":null,"abstract":"<div><h3>Effect of Seizures on the Developing Brain and Cognition</h3><p>Gregory L. Holmes Seminars in Pediatric Neurology Volume 23, Issue 2, May 2016, Pages 120–126</p><p>Epilepsy is a complex disorder, which involves much more than seizures, encompassing a range of associated comorbid health conditions that can have significant health and quality-of-life implications. Of these comorbidities, cognitive impairment is one of the most common and distressing aspects of epilepsy. Clinical studies have demonstrated that refractory seizures, resistant to antiepileptic drugs, occurring early in life have significant adverse effects on cognitive function. Much of what has been learned about the neurobiological underpinnings of cognitive impairment following early-life seizures has come from animal models. While early-life seizures in rodents do not result in cell loss, seizures do result in changes in neurogenesis and synaptogenesis and alteration of excitatory/inhibitory balance, network connectivity and temporal coding. These morphological and physiological changes are accompanied by parallel impairment in cognitive skills. This increased understanding of the pathophysiological basis of seizure-induced cognitive deficits should allow investigators to develop novel targets for therapeutic interventions.</p></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"47 ","pages":"Article 101080"},"PeriodicalIF":2.7,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71428343","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":"Sleep in Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder","authors":"Kanwaljit Singh ,&nbsp;Andrew W. Zimmerman","doi":"10.1016/j.spen.2023.101076","DOIUrl":"10.1016/j.spen.2023.101076","url":null,"abstract":"<div><h3>Sleep in Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder</h3><p>Kanwaljit Singh, Andrew W. Zimmerman Seminars in Pediatric Neurology Volume 22, Issue 2, June 2015, Pages 113–125</p><p>Sleep problems are common in autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). Sleep problems in these disorders may not only worsen daytime behaviors and core symptoms of ASD and ADHD but also contribute to parental stress levels. Therefore, the presence of sleep problems in ASD and ADHD requires prompt attention and management. This article is presented in 2 sections, one each for ASD and ADHD. First, a detailed literature review about the burden and prevalence of different types of sleep disorders is presented, followed by the pathophysiology and etiology of the sleep problems and evaluation and management of sleep disorders in ASD and ADHD.</p></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"47 ","pages":"Article 101076"},"PeriodicalIF":2.7,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71428348","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":"Reflections and Updates of Contemporary High-Impact Reviews From Seminars in Pediatric Neurology","authors":"John R. Mytinger","doi":"10.1016/j.spen.2023.101083","DOIUrl":"10.1016/j.spen.2023.101083","url":null,"abstract":"","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"47 ","pages":"Article 101083"},"PeriodicalIF":2.7,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71428347","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":"Updated Genotype-Phenotype Correlations in TSC","authors":"Paolo Curatolo ,&nbsp;Marina Trivisano ,&nbsp;Nicola Specchio","doi":"10.1016/j.spen.2023.101086","DOIUrl":"10.1016/j.spen.2023.101086","url":null,"abstract":"<div><h3>Genotype/Phenotype Correlations in Tuberous Sclerosis Complex</h3><p>Paolo Curatolo MD, Romina Moavero MD, Denis Roberto, Federica Graziola Seminars in Pediatric Neurology Volume 22, Issue 4, December 2015, Pages 259–273</p><p>Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of widespread hamartomatous lesions in various organs, including brain, skin, kidneys, heart, and eyes. Central nervous system is almost invariably involved, with up to 85% of patients presenting with epilepsy, and at least half of patients having intellectual disability or other neuropsychiatric disorders including autism spectrum disorder. TSC is caused by the mutation in one of the 2 genes TSC1, at 9q34, and TSC2, at 16p13.3. They respectively encode for hamartin and tuberin, which form an intracellular complex inhibiting the mammalian target of rapamycin. Mammalian target of rapamycin overactivation following the genetic defect determines the cell growth and proliferation responsible for TSC-related lesions, as well as the alterations in neuronal excitability and synaptogenesis leading to epilepsy and neuropsychiatric disorders. A causative mutation for the disorder is identified in about 85% of patients with a clinical diagnosis of TSC. Mosaicism and technology limits likely explain most of the no mutation identified cases. This review confirms that patients with TSC2 mutations considered as a group usually present a more severe phenotype, characterized by higher number of tubers, earlier age at seizure onset and higher prevalence of intellectual disability. However, the clinical phenotype of the disease presents a high variability, thus making the prediction of the phenotype on an individual basis still challenging. The increasing application of new molecular techniques to subjects with TSC has the potential to significantly reduce the rate of patients with no mutation demonstrated and to identify an increasing higher number of mutations. This would hopefully allow a better characterization of higher risk mutations, which might help clinicians to plan individualized surveillance plans. Furthermore, the increasing availability of disease registries to collect clinical and genetics data of patients help to define more valid and clinically oriented genotype or phenotype correlations.</p></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"47 ","pages":"Article 101086"},"PeriodicalIF":2.7,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71428349","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":"Commentary: Pediatric Pain Measurement, Assessment, and Evaluation","authors":"Michela Carter ,&nbsp;Renee CB Manworren ,&nbsp;Jennifer N Stinson","doi":"10.1016/j.spen.2023.101074","DOIUrl":"10.1016/j.spen.2023.101074","url":null,"abstract":"<div><h3>Pediatric Pain Measurement, Assessment, and Evaluation</h3><p>Renee C.B. Manworren, Jennifer Stinson Seminars in Pediatric Neurology Volume 23, Issue 3, August 2016, Pages 189–200</p><p>Assessment provides the foundation for diagnosis, selection of treatments, and evaluation of treatment effectiveness for pediatric patients with acute, recurrent, and chronic pain. Extensive research has resulted in the availability of a number of valid, reliable, and recommended tools for assessing children's pain. Yet, evidence suggests children's pain is still not optimally measured or treated. In this article, we provide an overview of pain evaluation for premature neonates to adolescents. The difference between pain assessment and measurement is highlighted; and the key steps to follow are identified. Information about self report and behavioral pain assessment tools appropriate for children are provided; and fac tors to be considered when choosing a specific 1 are outlined. Finally, we preview future approaches to personalized pain medicine in pediatrics that include harnessing the use of potential digital health technologies and genomics.</p></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"47 ","pages":"Article 101074"},"PeriodicalIF":2.7,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46837145","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":"Measles Virus and the Central Nervous System: An Update","authors":"Daniel J. Bonthius","doi":"10.1016/j.spen.2023.101078","DOIUrl":"10.1016/j.spen.2023.101078","url":null,"abstract":"<div><h3>Measles Virus and Associated Central Nervous System</h3><p>Sequelae Renee Buchanan, Daniel J. Bonthius Seminars in Pediatric Neurology Volume 19, Issue 3, September 2012, Pages 107–114</p><p>Worldwide, measles remains one of the most deadly vaccine-preventable diseases. In the United States, enrollment in the public schools requires that each child receives 2 doses of measles-containing vaccine before entry, essentially eliminating this once endemic disease. Recent outbreaks of measles in the United States have been associated with importation of measles virus from other countries and subsequent transmission to intentionally undervaccinated children. The central nervous system complications of measles can occur within days or years of acute infection and are often severe. These include primary measles encephalitis, acute postinfectious measles encephalomyelitis, measles inclusion body encephalitis, and subacute sclerosing panencephalitis. These measles associated central nervous system diseases differ in their pathogenesis and pathologic effects. However, all involve complex brain-virus-immune system interactions, and all can lead to severe and permanent brain injury. Despite better understanding of the clinical presentations and pathogenesis of these illnesses, effective treatments remain elusive.</p></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"47 ","pages":"Article 101078"},"PeriodicalIF":2.7,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46625867","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":"Expanding Knowledge of the Causes of Childhood Chorea","authors":"HM Kern,&nbsp;JL Waugh","doi":"10.1016/j.spen.2023.101088","DOIUrl":"10.1016/j.spen.2023.101088","url":null,"abstract":"<div><h3>Inherited and Acquired Choreas</h3><p>Paolo Claudio M. de Gusmao, Jeff L. Waugh Seminars in Pediatric Neurology Volume 25, April 2018, Pages 42–53</p><p>Chorea is a symptom of a broad array of genetic, structural, and metabolic disorders. While chorea can result from systemic illness and damage to diverse brain structures, injury to the basal ganglia, especially the putamen or globus pallidus, appears to be a uniting features of these diverse neuropathologies. The timing of onset, rate of progression, and the associated neurological or systemic symptoms can often narrow the differential diagnosis to a few disorders. Recognizing the correct etiology for childhood chorea is critical, as numerous disorders in this category are potentially curable, or are remediable, with early treatment.</p></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"47 ","pages":"Article 101088"},"PeriodicalIF":2.7,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71428346","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":"Myelin Oligodendrocyte Glycoprotein (MOG) Associated Diseases: Updates in Pediatric Practice","authors":"Mellad M. Khoshnood ,&nbsp;Jonathan D. Santoro","doi":"10.1016/j.spen.2023.101056","DOIUrl":"10.1016/j.spen.2023.101056","url":null,"abstract":"<div><p>Myelin oligodendrocyte glycoprotein (MOG) is a membrane bound protein found on the surface of oligodendrocyte cells and the outermost surface of myelin sheaths. MOG is posited to play a role as a cell surface receptor or cell adhesion molecule, though there is no definitive answer to its exact function at this time. In the last few decades, there has been a recognition of anti-MOG-antibodies (MOG-Abs) in association with a variety of neurologic conditions, though primarily demyelinating and white matter disorders. In addition, MOG associated disease (MOGAD) appears to have a predilection for pediatric populations and in some patients may have a relapsing course. There has been considerable debate as to whether MOG-Abs are truly directly pathogenic or a disease biomarker associated with neuorinflammatory disease. In this manuscript we will review the current literature surrounding MOGAD, review new clinical phenotypes, discuss treatment and prognosis, and provide insight into potential future directions that studies may focus on.</p></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"46 ","pages":"Article 101056"},"PeriodicalIF":2.7,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9814503","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}