Genetic testing in inherited ataxias.

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：: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：:The ultimate goal of treating status epilepticus is to provide the best opportunity for a good outcome. This review discusses the current literature on the outcome after status epilepticus in children, including the risk of recurrence, morbidity, and mortality. The outcome seems most dependent on etiology, with age an...

journal_title：Seminars in pediatric neurology

authors： Ostrowsky K,Arzimanoglou A

更新日期：2010-09-01 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：:The interaction between sleep and headache or migraine is powerful and an elevated comorbidity between these 2 disorders has been reported in either adults or children. This comobidity is linked to common neurophysiological and neuroanatomical substrates that are genetically based strongly. The first reports on this r...

journal_title：Seminars in pediatric neurology

authors： Dosi C,Figura M,Ferri R,Bruni O

更新日期：2015-06-01 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：:Neonatal neurocritical care is an evolving subsubspecialty whose goal is to implement neuroprotective care strategies, continuous bedside monitoring of neurologic function, and therapies in order to reduce the risk of neurologic injury and improve long-term neurodevelopmental outcomes in neonates who require intensive...

journal_title：Seminars in pediatric neurology

authors： Bonifacio SL,Van Meurs K

更新日期：2019-12-01 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：:This neuropathologic case study illustrates the discovery of metachronous hemorrhagic infarcts insinuating round mass-like lesions by magnetic resonance imaging in the setting of childhood primary angiitis of the central nervous system (cPACNS) raising diagnostic awareness of this unusual presentation in a clinical an...

journal_title：Seminars in pediatric neurology

authors： Katsetos CD,Poletto E,Kasmire KE,Walleigh D,Kumar I,Pascasio JM,Legido A,Goldsmith DP

更新日期：2014-06-01 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：:Neurocutaneous disorders are a heterogeneous group of conditions (mainly) affecting the skin [with pigmentary/vascular abnormalities and/or cutaneous tumours] and the central and peripheral nervous system [with congenital abnormalities and/or tumours]. In a number of such disorders, the skin abnormalities can assume a...

journal_title：Seminars in pediatric neurology

authors： Ruggieri M,Praticò AD

更新日期：2015-12-01 00:00:00

abstract：:Biomarkers are central to the translational medicine strategic focus, though strict criteria need to be applied to their designation and utility. They are one of the most promising areas of medical research, but the "biomarker life-cycle" must be understood to avoid false-positive and false-negative results. Molecular...

journal_title：Seminars in pediatric neurology

authors： Bielekova B,Pranzatelli MR

更新日期：2017-08-01 00:00:00

abstract：:The organization of language-relevant brain systems was examined in normally developing and language-impaired children. Atypical patterns of brain activity were observed in subsets of children with specific language impairment (SLI) for both sensory (auditory and visual) and language processing. However, it was not th...

journal_title：Seminars in pediatric neurology

authors： Mills DL,Neville HJ

更新日期：1997-06-01 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：:Imaging of the brachial plexus and peripheral nerves is challenging in the pediatric patient. Magnetic resonance imaging is the modality of choice as it is not invasive and demonstrates proximal and distal lesions. This may be used to detect nerve root avulsions, nerve ruptures, pseudo-meningoceles, brachial plexus sc...

journal_title：Seminars in pediatric neurology

authors： Birchansky S,Altman N

更新日期：2000-03-01 00:00:00

abstract：:A 5-year-old was admitted after an episode of loss of consciousness and an episode of convulsive activity. Information that aids in differentiating seizures and syncope is discussed. ...

journal_title：Seminars in pediatric neurology

authors： McGregor A

更新日期：2008-12-01 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：:The heterogeneous childhood limb-girdle muscular dystrophies have originally been defined as a group of autosomal recessive and dominant diseases with progressive weakness and wasting of shoulder and pelvic-girdle muscles. Over the last 12 years, the underlying genetic defects for many of the diseases have been identi...

journal_title：Seminars in pediatric neurology

authors： Straub V,Bushby K

更新日期：2006-06-01 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：: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：: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：:Significant advancements have been made in early intervention programs for children with Autism spectrum disorder (ASD). However, measuring treatment response for children with ASD is difficult due to the heterogeneity of changes in symptoms, which can be subtle, especially over a short period of time. Here we outline...

journal_title：Seminars in pediatric neurology

authors： Grzadzinski R,Janvier D,Kim SH

更新日期：2020-07-01 00:00:00

abstract：:An estimated 10% to 40% of children with epilepsy have treatment-resistant epilepsy. Persistent seizures have negative psychosocial, behavioral, cognitive, and financial consequences and are associated with an increased mortality rate. Accurate syndromic and etiologic diagnoses are of vital importance because they may...

journal_title：Seminars in pediatric neurology

authors： Skjei KL,Dlugos DJ

更新日期：2011-09-01 00:00:00

abstract：:A brain, a neural structure located in the head, differs from a ganglion by the following characteristics: (1) a brain subserves the entire body, not just restricted segments; (2) it has functionally specialized parts; (3) it is bilobar; (4) commissures and neurons form the surface with axons in the central core; (5) ...

journal_title：Seminars in pediatric neurology

authors： Sarnat HB,Netsky MG

更新日期：2002-12-01 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：: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：:It was not too long ago that being struck violently in the head or "getting your bell rung" was often brushed off as nothing to worry about. These days the pendulum has swung and there is growing appreciation that this mild traumatic brain injury (mTBI), often called concussion, must be taken seriously and is now on t...

journal_title：Seminars in pediatric neurology

authors： Kerrigan JM,Giza CC

更新日期：2019-07-01 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：: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

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