Evidence-based versus reported epilepsy management practices.

Evidence-based medicine practices are widely touted in medicine, although their adoption by busy practitioners is problematic and cumbersome. In this study, we examined published evidence underpinning 2 relevant clinical management questions in pediatric epilepsy: when to initiate an antiepileptic drug and when to prescribe the ketogenic diet. We surveyed practicing child neurologists who were attending their national meeting to determine whether their current practices aligned with the evidence. Clinical studies were evaluated using the Oxford Scale, which was adopted by the American Academy of Neurology. In addition, using a novel rating approach, we examined the impact on overall recommendations by scoring results from studies refuting a given practice. The data show that child neurologists' attitudes firmly adhere to evidence-based practice on when to initiate treatment with an antiepileptic drug, but not on when to prescribe the ketogenic diet. It seems clear that important differences in attitudes of practitioners toward different management strategies for epilepsy cannot be explained only by differences in the evidence. Safety and efficacy data suggest that the ketogenic diet should be more widely adopted as a management strategy in pediatric epilepsy.

Spinal muscular atrophy: classification, diagnosis, management, pathogenesis, and future research directions.

Spinal muscular atrophy is an autosomal recessive neurodegenerative disorder that affects the motor neurons responsible for movement of the proximal muscles of the trunk and body. To date, the disease can be classified into 3 main categories based on severity and age of onset. During the October 18th symposium held in Pittsburgh, Pennsylvania, researchers met to (1) describe current diagnostic strategies, (2) discuss recent thoughts on pathogenesis, (3) review current therapies and clinical trials, and (4) define future research directions. In her opening remarks, Dr Story Landis, director of the National Institute of Neurological Disorders and Stroke, emphasized the degree to which the Neurobiology of Disease in Children conference series has broadened awareness of the many rare diseases affecting children, not only through the advancement of research but also by educating practitioners about diagnostic strategies. Dr Landis also discussed the role this conference may play in fostering research that seeks to develop a single mechanism of therapy for spinal muscular atrophy. She also discussed the current funding situation at the National Institutes of Health and addressed the crucial function of volunteer research organizations that sponsor research in further improving management of this condition. This article summarizes the presentations and includes the verbatim edited transcript of question-and-answer sessions.

Acute disseminated encephalomyelitis following infectious mononucleosis.

Two months following an Epstein-Barr virus infection, a 17-year-old white female presented with seizures, intermittent visual changes, and altered mental status. Magnetic resonance imaging showed white matter changes of acute disseminated encephalomyelitis with a predilection for posterior cerebral artery distributions but without radiological evidence of arteritis. Epstein-Barr virus titers and polymerase chain reaction analysis results for the virus were consistent with postinfectious acute disseminated encephalomyelitis. The symptoms and signs improved following treatment with high-dose corticosteroids and intravenous immunoglobulin. Although Epstein-Barr virus can cause acute viral encephalomyelitis, the authors report a case of acute disseminated encephalomyelitis months after acute Epstein-Barr virus infection.

Neurofibromatosis type 1 revisited.

Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a worldwide incidence of approximately 1 per 2500 to 3000 individuals. Caused by a germ-line-inactivating mutation in the NF1 gene on chromosome 17, the disease is associated with increased morbidity and mortality. In the past several years, significant progress has been made in standardizing management of the major clinical features of neurofibromatosis type 1. Moreover, improved understanding of how the neurofibromatosis type 1 protein, neurofibromin, regulates cell growth recently provided insight into the pathogenesis of the disease and has led to the development of new therapies. In this review, we describe the clinical manifestations, recent molecular and genetic findings, and current and developing therapies for managing clinical problems associated with neurofibromatosis type 1.