European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
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Eur. J. Paediatr. Neurol. · Mar 2013
Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype.
Marinesco-Sjögren syndrome is an autosomal recessive cerebellar ataxia, characterised by cerebellar ataxia, myopathy, cataracts and intellectual disability, due to mutations in the SIL1 gene. ⋯ Because the late appearance of some hallmarks and the uncertainty as to whether incomplete phenotypes occur, SIL1 mutation analysis is helpful early in the diagnostic work-up of children with suspected inherited ataxias.
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Eur. J. Paediatr. Neurol. · Nov 2012
Review Case ReportsDevelopmental coordination disorder: a review and update.
Present in approximately 5-6% of school-aged children, developmental coordination disorder (DCD) is a neuromotor disability in which a child's motor coordination difficulties significantly interfere with activities of daily living or academic achievement. These children typically have difficulty with fine and/or gross motor skills, with motor performance that is usually slower, less accurate, and more variable than that of their peers. In this paper, we review the history of various definitions leading up to the current definition of DCD, prevalence estimates for the disorder, etiology, common co-morbidities, the impact of DCD on the child's life, and prognosis. As well, we briefly describe current interventions for children with the disorder and results of recent neuroimaging studies of the brains of children with DCD, including research by the authors of this paper.
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Eur. J. Paediatr. Neurol. · Sep 2012
ReviewHemiconvulsion-hemiplegia-epilepsy syndrome: current understandings.
Hemiconvulsion-Hemiplegia (HH) syndrome is an uncommon consequence of prolonged focal febrile convulsive seizures in infancy and early childhood. It is characterized by the occurrence of prolonged clonic seizures with unilateral predominance occurring in a child and followed by the development of hemiplegia. Neuroradiological studies showed unilateral edematous swelling of the epileptic hemisphere at the time of initial status epilepticus (SE). ⋯ However, these factors cannot explain the elective involvement of an entire hemisphere. We draw new hypothesis that may explain the involvement of one hemisphere such as maturation of brain structure such as corpus callosum or genetic factors (CACNA1A gene) that are specifically discussed. An early diagnosis and a better understanding of the underlying mechanisms of HHE are needed to improve the outcome of this condition.
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Eur. J. Paediatr. Neurol. · Sep 2012
Randomized Controlled Trial Comparative StudyEfficacy and safety of intravenous sodium valproate versus phenobarbital in controlling convulsive status epilepticus and acute prolonged convulsive seizures in children: a randomised trial.
Status epilepticus and acute prolonged seizures are the most commonly occurring neurological emergencies in children. Such events have high morbidity and mortality rates along with poor long-term outcomes, depending on their duration and causes. Therefore, such seizures warrant urgent treatment using appropriate doses of anticonvulsants. ⋯ Clinically significant adverse effects occurred in 74% patients of the phenobarbital group and 24% patients of the valproate group (p < 0.001). In conclusion, rapid loading of valproate is effective and safe in controlling convulsive status epilepticus and acute prolonged convulsive seizures in children. Intravenous valproate should be considered as a suitable choice for terminating status epilepticus and acute prolonged seizures in children.
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Eur. J. Paediatr. Neurol. · Sep 2012
Clinical outcomes, quality of life, and costs associated with implantation of vagus nerve stimulation therapy in pediatric patients with drug-resistant epilepsy.
VNS (Vagus Nerve Stimulation Therapy) is approved in the USA to treat refractory epilepsy as adjunctive to antiepileptic drugs (AEDs) in patients ≥12 years with complex partial seizures. ⋯ VNS in pediatric patients is associated with decreased resource use and epilepsy-related events, cost savings, and QALY gain.