Siblings with leukoencephalopathy.

abstract：:The protein surplus myopathies have emerged as a newly recognized subgroup of morphologically defined myopathies within the spectrum of congenital myopathies because of the accumulation of protein aggregates, some of them mutant proteins. Currently, nosologic, including molecular criteria include desmin-related myopat...

journal_title：Seminars in pediatric neurology

authors： Goebel HH,Borchert A

更新日期：2002-06-01 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：: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：:Pediatric movement disorders may present with psychiatric symptoms at many points during the course of the disease. For the relatively common pediatric movement disorder, Tourette syndrome, psychiatric comorbidities are well-described and treatment is well-studied. Managing these comorbidities may be more effective th...

journal_title：Seminars in pediatric neurology

authors： Walsh KH,Soe K,Sarawgi S

更新日期：2018-04-01 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：: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 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：: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：:The paroxysmal dyskinesias (PxDs) are involuntary, intermittent movement disorders manifested by dystonia, chorea, athetosis, ballismus or any combination of these hyperkinetic disorders. Paroxysmal kinesigenic dyskinesia (PKD), one of the four main types of PxD, involves sudden attacks of dyskinesias induced by volun...

journal_title：Seminars in pediatric neurology

authors： Lotze T,Jankovic J

更新日期：2003-03-01 00:00:00

abstract：:Many genetic conditions can result in ataxia. Careful clinical, radiologic, and genetic evaluation permits the specific diagnosis of many of these conditions, which in turn facilitates medical care for the patient and genetic counseling for the patient and family. Predictive, prenatal, and carrier testing are possible...

journal_title：Seminars in pediatric neurology

authors： Nance MA

更新日期：2003-09-01 00:00:00

abstract：:The craniovertebral junction is the most complex of the axial skeleton, residing between the skull and the upper cervical spine. Congenital, developmental, and acquired bony abnormalities result in compression and distortion of the neural structures, the vertebrobasilar vascular system, and the cerebrospinal fluid cha...

journal_title：Seminars in pediatric neurology

authors： Menezes AH

更新日期：1997-09-01 00:00:00

abstract：:Cerebral/cortical visual impairment (CVI) is characterized by higher order visual dysfunction caused by injury to the retrogeniculate visual pathways and brain structures which subserve visual processing. CVI has become the leading cause of significant vision loss in children in developed countries, but continues to b...

journal_title：Seminars in pediatric neurology

authors： Kran BS,Lawrence L,Mayer DL,Heidary G

更新日期：2019-10-01 00:00:00

abstract：:Many inherited metabolic diseases or inborn errors of metabolism (IEM) cause movement disorders in children. This review focuses on chorea, dystonia, myoclonus, tremor, and parkinsonism. Broad neurometabolic categories commonly responsible for pediatric movement disorders include mitochondrial cytopathies, organic aci...

journal_title：Seminars in pediatric neurology

authors： Christensen CK,Walsh L

更新日期：2018-04-01 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：:Protein misfolding and aggregation are common to many disorders, including neurodegenerative diseases referred to as "conformational disorders," suggesting that alterations in the normal protein homeostasis might contribute to pathogenesis. Cells evolved 2 major components of the protein quality control system to deal...

journal_title：Seminars in pediatric neurology

authors： Outeiro TF,Tetzlaff J

更新日期：2007-03-01 00:00:00

abstract：:Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with variable expression. The complications are age specific. Neurologic complications include tumors of the peripheral nerves, nerve roots, and plexi; spinal cord compression; dural ectasias; learning disabilities; attention deficit; headaches; seizures...

journal_title：Seminars in pediatric neurology

authors： Tonsgard JH

更新日期：2006-03-01 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：:Pediatric epileptic encephalopathies represent a clinically challenging and often devastating group of disorders that affect children at different stages of infancy and childhood. With the advances in genetic testing and neuroimaging, the etiologies of these epileptic syndromes are now better defined. The various ence...

journal_title：Seminars in pediatric neurology

authors： Shbarou R,Mikati MA

更新日期：2016-05-01 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：: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 incidence and sex distribution of spinal cord injury (SCI) changes with age. Motor vehicle accidents, bicycle accidents, sports accidents, and violence are major causes in the pediatric population. Pulmonary complications may be severe and life-threatening in the acute phase. Chronically, the degree of ventilatory...

journal_title：Seminars in pediatric neurology

authors： Zidek K,Srinivasan R

更新日期：2003-06-01 00:00:00

abstract：:Numerous neurosurgical approaches are available for children presenting with hypothalamic hamartomas (HHs) associated with severe epilepsy. A concern regarding the impairment of short-term memory after resective surgery is promoting the exploration of less invasive alternatives like radiosurgery. Gamma knife radiosurg...

journal_title：Seminars in pediatric neurology

authors： Régis J,Scavarda D,Tamura M,Villeneuve N,Bartolomei F,Brue T,Morange I,Dafonseca D,Chauvel P

更新日期：2007-06-01 00:00:00

abstract：:This report describes language development from infancy through 8 years of life for a large sample of very low birth weight (VLBW) (high medical risk, n = 94; low medical risk, n = 132) and term (n = 134) children. Children of high and low medical risk status showed lower levels and slower rates of development compare...

journal_title：Seminars in pediatric neurology

authors： Landry SH,Smith KE,Swank PR

更新日期：2002-09-01 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：:Migraine is a commonly occurring headache syndrome in children and adolescents. Half of all individuals destined to have migraine begin their attacks before age 20 years. It is characterized by paroxysmal headache, nausea, vomiting, and desire to sleep. On occasion, dramatic neurological symptoms and signs accompany t...

journal_title：Seminars in pediatric neurology

authors： Lewis DW

更新日期：1995-06-01 00:00:00

abstract：:Pediatric neurologists frequently encounter patients who present with significant musculoskeletal pain that cannot be attributed to a specific injury or illness, which can often be defined as pain amplification syndrome (PAS). PAS in children and adolescents is the result of a heightened pain sensitivity pathway, whic...

journal_title：Seminars in pediatric neurology

authors： Namerow LB,Kutner EC,Wakefield EC,Rzepski BR,Sahl RA

更新日期：2016-08-01 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：: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：:Childhood narcolepsy is frequently under-diagnosed. Hypersomnolence may not always be accompanied by cataplexy, sleep paralysis, or hypnagogic hallucinations in the early stages. Pathophysiologic considerations revolve around an altered central nervous system catecholamine-acetylcholine balance. Both idiopathic and sy...

journal_title：Seminars in pediatric neurology

authors： Kotagal S

更新日期：1996-03-01 00:00:00

abstract：:The possibility of sudden unexpected death in people with epilepsy (SUDEP) is very frightening for parents of a child with epilepsy. The mechanism for SUDEP is unclear but is probably most commonly related to postictal respiratory insufficiency. Occasionally the cause is a cardiac arrhythmia induced by a seizure. Even...

journal_title：Seminars in pediatric neurology

authors： Camfield P,Camfield C

更新日期：2005-03-01 00:00:00