The evaluation of treatment-resistant epilepsy.

abstract：:Two consanguineous siblings presented with developmental regression and emerging spasticity. Cranial magnetic resonance imaging in both showed diffuse leukoencephalopathy. Further investigation established the siblings as having complex 1 deficiency consequent to a novel homozygous mutation in NDUFV1, a nuclear-encode...

journal_title：Seminars in pediatric neurology

authors： Breningstall GN,Shoffner J,Patterson RJ

更新日期：2008-12-01 00:00:00

abstract：:Children with neurologic conditions benefit from international conventions, and national treaties, policies and regulations that safeguard their human rights. These regulations also exist to serve as guidance in the creation of comprehensive systems of care, inclusive environments, accessible societies and communities...

journal_title：Seminars in pediatric neurology

authors： Shikako-Thomas K,Shevell M

更新日期：2018-10-01 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：: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：: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：:The clinical presentation of patients with epileptic encephalopathies can be heterogenous. When attempting to classify a patient's epilepsy syndrome, challenges can arise due to the phenotypic overlap of various epilepsies as well as the different presentations of mutations within the same gene. Genetic testing can be...

journal_title：Seminars in pediatric neurology

authors： Fine AL,Wong-Kisiel LC,Wirrell EC

更新日期：2018-07-01 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：: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：: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：:A 6-year-old girl had reduced fetal movements, numerous apneic spells, muscle hypotonia, and developmental motor delay. Her muscle biopsy tissue showed variation in myofiber diameters, small minicores by electron microscopy, and near-uniformity of type I fibers. Although no mutations were detected in RYR1, SEPN1, and ...

journal_title：Seminars in pediatric neurology

authors： Radke J,Dreesmann M,Radke M,von Moers A,Abicht A,Stenzel W,Goebel HH

更新日期：2018-07-01 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：:Infants with congenital infections are at high risk for developmental disabilities. Because of this increased-risk status, they require comprehensive, longitudinal follow-up that should begin in the neonatal period with sensory, developmental, and neuromotor assessments as well as neuroradiological imaging. Reassessme...

journal_title：Seminars in pediatric neurology

authors： Williamson WD

更新日期：1994-09-01 00:00:00

abstract：:A seven year-old male presented to his pediatrician with choreiform movements and a recent history of sore throat. He was diagnosed with Sydenham's chorea based on clinical criteria and laboratory evidence. Worsening symptoms prompted a magnetic resonance imaging (MRI) of the brain which demonstrated evidence of Moyam...

journal_title：Seminars in pediatric neurology

authors： Cardenas JF,Chapman K

更新日期：2010-03-01 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：: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 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：: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：:The training of the child neurologist in the fundamentals of neurology is discussed. Although the fundamentals of neurology are clearly necessary for the practice of child neurology, the breadth of the background necessary for the practice of child neurology depend on the interest, enthusiasm, and goals of the residen...

journal_title：Seminars in pediatric neurology

authors： Bodensteiner J

更新日期：2011-06-01 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：:Cytomegalovirus (CMV) is the most common congenital virus passed from mother to fetus in the United States, and the most common acquired cause of sensorineural hearing loss. Neuroimaging in patients with symptomatic congenital CMV demonstrates abnormalities frequently, but many providers are unaware of the extent of t...

journal_title：Seminars in pediatric neurology

authors： Moresco BL,Svoboda MD,Ng YT

更新日期：2018-07-01 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：: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：: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：: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：: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：: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：: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：: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：: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