C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.

abstract：:Transition from pediatric to adult healthcare is a well-established challenge for individuals with neurodevelopmental disorders like cerebral palsy. With regard to ethics, some of the key aspects to explore include the following: if and how individuals feel respected during the transition process; if and how their val...

journal_title：Seminars in pediatric neurology

authors： Larivière-Bastien D,Bell E,Majnemer A,Shevell M,Racine E

更新日期：2013-06-01 00:00:00

abstract：:Alpers disease is a mitochondrial depletion syndrome characterized by psychomotor retardation, intractable epilepsy, and liver failure. Polymerase gamma (POLG) gene mutations are a known cause of the disease. We describe a case in which a 14-month-old female presented with epilepsia partialis continua evolving into ge...

journal_title：Seminars in pediatric neurology

authors： Cardenas JF,Amato RS

更新日期：2010-03-01 00:00:00

abstract：:The success of transition for children and youth with neurological disorders depends on leadership from the pediatric neurology team to encourage and support the patient's firm knowledge base of the medical condition, gradual acceptance of self-management skills and confident self-advocacy. While the foundations of ef...

journal_title：Seminars in pediatric neurology

authors： Brown LW

更新日期：2020-12-01 00:00:00

abstract：:The cerebral cortex is the area of the brain where higher-order cognitive processing occurs. The 2 hemispheres of the cerebral cortex communicate through one of the largest fiber tracts in the brain, the corpus callosum. Malformation of the corpus callosum in human beings occurs in 1 in 4000 live births, and those aff...

journal_title：Seminars in pediatric neurology

authors： Donahoo AL,Richards LJ

更新日期：2009-09-01 00:00:00

abstract：:This article contains a discussion and detailed pictorial account of diagnostic and neurosurgical therapeutic procedures used to help pediatric patients who have medically intractable epilepsy. The operations discussed are placement of sphenoidal electrodes, strips and grids, temporal and extratemporal resections, cor...

journal_title：Seminars in pediatric neurology

authors： Iskandar BJ,Ramirez LF

更新日期：2000-09-01 00:00:00

abstract：:Creatine deficiency syndromes are a group of disorders of creatine (Cr) synthesis and transport characterized by intellectual disability, language delay, epilepsy, autism spectrum disorder, and movement disorders secondary to decrease of Cr concentration in the brain. Synthesis defects are treatable, therefore an earl...

journal_title：Seminars in pediatric neurology

authors： Fons C,Campistol J

更新日期：2016-11-01 00:00:00

abstract：:Advances in infant cardiac surgery have resulted in a dramatic decline in mortality rates; however, neurological morbidity remains an important concern. The effectiveness of a number of interventional strategies to prevent or minimize brain injury during open heart surgery are currently being investigated. This articl...

journal_title：Seminars in pediatric neurology

authors： du Plessis AJ,Johnston MV

更新日期：1999-03-01 00:00:00

abstract：:In recent years, there has been increasing recognition of the impact of childhood stroke and interest in the role of drugs in the acute, chronic, and prophylactic management of this condition. Most treatment strategies are based on studies in adults with stroke, and the relative infrequency of stroke and the heterogen...

journal_title：Seminars in pediatric neurology

authors： Amlie-Lefond C,Gill JC

更新日期：2010-12-01 00:00:00

abstract：:Pediatric brain tumors should be treated at multispecialty centers where the pediatric neurosurgeon constitutes a critical component to the team. Pediatric brain tumors are relatively rare, and diagnosis is often delayed because of the protean manifestations of these tumors clinically. The tumors can occur anywhere al...

journal_title：Seminars in pediatric neurology

authors： Mickle JP

更新日期：1997-12-01 00:00:00

abstract：:Autism spectrum disorder (ASD) is a multifactorial, pervasive neurodevelopmental disorder defined by the core symptoms of significant impairment in social interaction and communication as well as restricted, repetitive patterns of behavior. In addition to these core behaviors, persons with ASD frequently have associat...

journal_title：Seminars in pediatric neurology

authors： Mostafavi M,Gaitanis J

更新日期：2020-10-01 00:00:00

abstract：:Newborn screening has evolved from a single test for a single metabolite to a test that detects more than 90 metabolites on a single blood spot. In the past decade, the panel of newborn-screening disorders has rapidly expanded and will continue to grow as more is discovered about the human genome. It continues to be a...

journal_title：Seminars in pediatric neurology

authors： Copeland S

更新日期：2008-09-01 00:00:00

abstract：:Routine serum antiepileptic (AED) drug levels and laboratory monitoring for drug toxicity have crept into clinical practice. The value of these routines is uncertain. Serum drug levels do not clearly improve seizure control, predict adverse effects, or influence compliance. Routine laboratory testing appears neither s...

journal_title：Seminars in pediatric neurology

authors： Dooley JM

更新日期：1994-12-01 00:00:00

abstract：:Ethical issues in the critical care unit frequently arise in children with neurological problems. These ethical issues frequently challenge our medical management of such cases and can be quite problematic. This article reviews key ethical issues that may arise including informed consent, futility, justice/rationing, ...

journal_title：Seminars in pediatric neurology

authors： Shevell M

更新日期：2004-06-01 00:00:00

abstract：:In this review, we discuss the important pathological lesions observed in temporal lobectomies and neocortical resections performed for medically refractory seizures in children. A higher percentage of pediatric cases appear to be "lesional" with computed tomography (CT) and magnetic resonance imaging (MRI) and abnorm...

journal_title：Seminars in pediatric neurology

authors： Jay V,Becker LE

更新日期：1995-09-01 00:00:00

abstract：:Cerebral palsy (CP) registers appear to be appropriate tools for answering questions regarding the prevalence and characteristics of this common childhood disability. Registers are population databases issuing from multiple sources, relying on a clear definition and inclusion and exclusion criteria of CP, and requirin...

journal_title：Seminars in pediatric neurology

authors： Cans C,Surman G,McManus V,Coghlan D,Hensey O,Johnson A

更新日期：2004-03-01 00:00:00

abstract：:Postural tachycardia syndrome is a chronic condition with frequent symptoms of orthostatic intolerance or sympathetic activation and excessive tachycardia while standing, without significant hypotension. Orthostatic symptoms include dizziness, lightheadedness, blurring of vision, near faints, weakness in legs, poor co...

journal_title：Seminars in pediatric neurology

authors： Jarjour IT

更新日期：2013-03-01 00:00:00

abstract：:Autoimmunity is being increasingly recognized as a cause of neurologic presentations both inside and outside the intensive care unit (ICU) setting. Pediatric autoimmune neurologic diseases likely to be seen in the ICU include autoimmune encephalitidies such as N-Methyl-D-aspartate (NMDA) receptor encephalitis, central...

journal_title：Seminars in pediatric neurology

authors： Benson LA,Olson H,Gorman MP

更新日期：2014-12-01 00:00:00

abstract：:Velocardiofacial syndrome, also called Shprintzen syndrome or DiGeorge sequence, is one of the most common genetic disorders in humans. Caused by a microdeletion on chromosome 22, it manifests in a remarkable variety of symptoms in multiple systems. The most frequent anomalies involve palatal function, facial features...

journal_title：Seminars in pediatric neurology

authors： Hay BN

更新日期：2007-09-01 00:00:00

abstract：:Recurrent headaches in children are most often migraines and are based in a genetic predisposition with a low headache threshold. As with any pain experience, there is a large emotional component associated with an attack of migraines that grows in amplitude as the headaches become more frequent and resistant to medic...

journal_title：Seminars in pediatric neurology

authors： Farmer K,Dunn D,Scott E

更新日期：2010-06-01 00:00:00

abstract：:Scoliosis, common in preadolescent females is a finding which warrants investigation in any other age group or if the clinical or neuroimaging features are atypical even in the preadolescent female. The cause of scoliosis are numerous but include several important conditions some of which are treatable and some of whi...

journal_title：Seminars in pediatric neurology

authors： Barnes PD

更新日期：1996-09-01 00:00:00

abstract：:Intracranial pressure (ICP) and skull volume are intricately related. Craniosynostosis alters skull volume, and the many forms of craniosynostosis complicate the relationship to ICP even further. Patients with single-suture synostosis are less likely to experience elevated ICP than patients in whom multiple sutures, c...

journal_title：Seminars in pediatric neurology

authors： Bristol RE,Lekovic GP,Rekate HL

更新日期：2004-12-01 00:00:00

abstract：:In this article, I consider in what sense bioethics is philosophical. Philosophy includes both analysis and synthesis. Analysis focuses on central concepts in a domain, for example, informed consent, death, medical futility, and health. It is argued that analysis should avoid oversimplification. The synthesis or synop...

journal_title：Seminars in pediatric neurology

authors： Horn P

更新日期：2015-09-01 00:00:00

abstract：:Astrocytes have long been forgotten entities in our quest to understand brain function. Over the last few decades, there has been an exponential increase in our knowledge of central nervous system (CNS) function, and, consequently, astrocytes have emerged as key figures in CNS physiology and disease. Indeed, several p...

journal_title：Seminars in pediatric neurology

authors： Chaboub LS,Deneen B

更新日期：2013-12-01 00:00:00

abstract：:The nature of sleep-related breathing problems varies with age. Ventilatory function may be compromised at the level of the brainstem, the autonomic nerves, or the upper airway musculature. These disorders are state-dependent, being impacted by both rapid eye movement and non-rapid eye movement sleep, and also by the ...

journal_title：Seminars in pediatric neurology

authors： Kotagal S

更新日期：2003-12-01 00:00:00

abstract：:Headache is a common problem in children and adolescents. Its recurrent and disabling nature may lead to use of neuroimaging to exclude secondary causes of headache such as Chiari I malformation (CM I). CM I has a variety of presentation with headache being the most common symptom. CM I can be asymptomatic and is also...

journal_title：Seminars in pediatric neurology

authors： Victorio MC,Khoury CK

更新日期：2016-02-01 00:00:00

abstract：:Seizures are a common complication of pediatric brain tumors and their treatment. This article reviews the epidemiology, evaluation, and treatment of seizures in children with brain tumors. Seizures in known brain tumor patients may signify tumor progression or recurrence, or treatment-related brain damage, as well as...

journal_title：Seminars in pediatric neurology

authors： Wells EM,Gaillard WD,Packer RJ

更新日期：2012-03-01 00:00:00

abstract：:Childhood stoke is increasingly recognized, but studies remain largely descriptive. Important differences from adult stroke include the following: (1) frequently delayed or missed diagnosis, (2) heterogenous and overlapping risk factors, and (3) developmental differences in the cerebrovascular, neurologic, and coagula...

journal_title：Seminars in pediatric neurology

authors： deVeber G,Roach ES,Riela AR,Wiznitzer M

更新日期：2000-12-01 00:00:00

abstract：:Antiseizure medications and dietary therapies have associated effects on the endocrine system. We provided an overview of the relationship between epilepsy treatment and bone health in children with epilepsy. Additionally, we discussed the effects of epilepsy treatment on other endocrine systems including thyroid func...

journal_title：Seminars in pediatric neurology

authors： McNamara NA,Romanowski EMF,Olson DP,Shellhaas RA

更新日期：2017-11-01 00:00:00

abstract：:An acute flaccid paraparesis or ascending quadriparesis in an infant or child constitutes a very important pediatric neurology emergency. The Guillain-Barré syndrome (GBS) is the most frequent cause. This is primarily an autoimmune, post-infectious, demyelinating, peripheral nervous system process. A small percentage ...

journal_title：Seminars in pediatric neurology

authors： Jones HR Jr

更新日期：2000-06-01 00:00:00

abstract：:Cyclic vomiting is a variant of migraine that is discussed in depth. The importance of the diagnostic criteria, differential diagnosis, supportive and pharmacologic therapies is stressed. ...

journal_title：Seminars in pediatric neurology

authors： Li BU

更新日期：2001-03-01 00:00:00