Epilepsy in Inborn Errors of Metabolism with Therapeutic Options
Inborn errors of metabolism (IEM) are rare conditions that represent more than 1,000 diseases, with a global prevalence of about 1:2,000 individuals. Approximately 40 –60% of IEM may present with epilepsy as one of the main neurological signs. Epilepsy in IEM may appear at any age (fetal, newborn, infant, adolescent, or even adult). Different pathophysiological bases may be responsible for the clinical phenotype, such as disturbances in energy metabolism (mitoc hondrial and fatty oxidation disorders, GLUT1 and cerebral creatine deficiency), accumulation of complex molecules (lysosomal storage disorders), toxic mechanisms...
Source: Seminars in Pediatric Neurology - November 8, 2016 Category: Neurology Authors: Jaume Campistol Source Type: research
Neurotransmitter Imbalance in Early-Treated Phenylketonuria
Cerebral neurotransmitter deficiency has been suggested as a contributing factor in the pathophysiology of brain dysfunction in phenylketonuria, even in early-treated phenylketonuric patients. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - November 8, 2016 Category: Neurology Authors: Mar ía Julieta González, Rosa Gassió, Rafael Artuch, Jaume Campistol Source Type: research
Treatable Inborn Errors of Metabolism Due to Membrane Vitamin Transporters Deficiency
B vitamins act as cofactors for strategic metabolic processes. The SLC19 gene family of solute carriers has a significant structural similarity, transporting substrates with different structure and ionic charge. Three proteins of this family are expressed ubiquitously and mediate the transport of two important water-soluble vitamins, folate and thiamine. SLC19A1 transports folate and SLC19A2 and SLC19A3 transports thiamine. PCFT and FOLR1ensure intestinal absorption and transport of folate through the blood brain barrier and SLC19A25 transports thiamine into the mitochondria. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - November 8, 2016 Category: Neurology Authors: Juan Dar ío Ortigoza Escobar, Belén Pérez Dueñas Source Type: research
Introduction
Inborn errors of metabolism (IEM) are genetic disorders with a low prevalence in the general population. These rare diseases are caused by a dysfunction of genes that control specially the intermediary metabolism of carbohydrates, lipids, amino acids, vitamins, or energy metabolism. IEM may present at any age, from newborn to adulthood, and in general no specific features are related to the type of IEM. Most of them may manifest neurologic symptoms (neurometabolic diseases) and comprise a large group of IEM affecting the brain, particularly in the neonatal period and during infancy. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - October 31, 2016 Category: Neurology Authors: Jaume Campistol Source Type: research
Introduction
Pain is one of the most ubiquitous symptoms of human suffering. The development of pain, the anticipation, and the fear of persistent pain motivates patients and practitioners alike. In the pediatric population, no other symptom can be more compelling. Pain perception is an important warning signal to avoid injury, herald disease, and identify tissue damage. The understanding of pain pathogenesis would allow more targeted and efficacious interventions. In this volume, the subject of pediatric pain is explored in depth and it includes assessment and measurement, pathogenesis, pharmacologic and nonpharmacologic treatments, a...
Source: Seminars in Pediatric Neurology - October 19, 2016 Category: Neurology Authors: Francis J. DiMario Source Type: research
Nonpharmacologic Treatment of Pain
This article is directed toward clinicians and would provide an overview of cognitive-behavioral therapy, including specific cognitive-behavioral techniques for pediatric pain. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - October 19, 2016 Category: Neurology Authors: Anna Monica Agoston, Christine B. Sieberg Source Type: research
Preface
Pain is one of the most ubiquitous symptoms of human suffering. The development of pain, the anticipation and the fear of persistent pain motivates patients and practitioners alike. In the pediatric population, no other symptom can be more compelling. Pain perception is an important warning signal to avoid injury, herald disease and identify tissue damage. The understanding of pain pathogenesis will allow more targeted and efficacious interventions. In this volume the subject of pediatric pain is explored in depth and includes assessment and measurement, pathogenesis, pharmacologic and non-pharmacologic treatments and the ...
Source: Seminars in Pediatric Neurology - October 19, 2016 Category: Neurology Authors: Francis J. DiMario Source Type: research
Pharmacologic Treatment of Pain
Adolescents and children are frequently affected by chronic pain conditions which can lead to disability and distress. The best approach to evaluation and treatment of these conditions involves use of the biopsychosocial model, which includes use of medication management. Chronic pain conditions are treated pharmacologically with a number of different medication classes via several routes of administration as drug delivery systems have progressed. These include anti-inflammatory drugs, muscle relaxers, antiepileptic medicines, antidepressants, opioids, and local anesthetics. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - October 19, 2016 Category: Neurology Authors: Eapen Mathew, Eugene Kim, William Zempsky Source Type: research
Non-Pharmacologic Treatment of Pain
Pain is a complex biopsychosocial experience that is influenced by neurological processes and psychosocial factors1. Systematic reviews and meta-analyses of randomized controlled trials of psychological interventions have demonstrated evidence for psychological approaches in treating procedural pain2,3 as well as multiple types of chronic pain, including headaches, abdominal pain, and musculoskeletal pain.4,5. This chapter is directed toward clinicians and will provide an overview of cognitive-behavioral therapy, including specific cognitive-behavioral techniques for pediatric pain. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - October 19, 2016 Category: Neurology Authors: A. Monica Agoston, Christine B. Sieberg Source Type: research
Pain Amplification Syndrome: A Biopsychosocial Approach
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, which is intensified by significant biological, psychological, and social contributors. Appropriate assessment and multimodal intervention of PAS are crucial to treatment success, including neurology and behavioral health collaborative treatment plans to restore patient function and reduce pain perception. (Source...
Source: Seminars in Pediatric Neurology - October 19, 2016 Category: Neurology Authors: Lisa B. Namerow, Emily Kutner, Emily Wakefield, Barbara Rzepski, Robert Sahl Source Type: research
Inherited Pain Syndromes and Ion Channels
Individuals rely on the perception of pain to avoid injury, signal disease and warn about tissue inflammation and damage. However, the inheritance of inappropriate, extreme or inadequate pain production is a source of significant human suffering.Substantial progress has been made in our understanding of the genetics and pathophysiology of pain through the study of individuals and families with several specific inherited pain syndromes. These studies have led to the discovery of a number of gene mutations associated with specific ion channel disturbances that produce familial inherited pain sensitivity and insensitivity syn...
Source: Seminars in Pediatric Neurology - October 19, 2016 Category: Neurology Authors: Francis J. DiMario Source Type: research
Pediatric Pain Measurement, Assessment, and Evaluation
Assessment provides the foundation for diagnosis, selection of treatments, and evaluation of treatment effectiveness for pediatric patients with acute, recurrent, and chronic pain. Extensive research has resulted in the availability of a number of valid, reliable, and recommended tools for assessing children ʼs pain. Yet, evidence suggests childrenʼs pain is still not optimally assessed or treated. In this article, we provide an overview of pain assessment for premature neonates to adolescents. The difference between pain assessment and measurement is highlighted; and the key steps in pain assessment are identified. (Sou...
Source: Seminars in Pediatric Neurology - October 16, 2016 Category: Neurology Authors: Renee C.B. Manworren, Jennifer Stinson Source Type: research
Seminars in Pediatric Neurology Pediatric Pain Measurement, Assessment and Evaluation
Assessment provides the foundation for diagnosis, selection of treatments, and evaluation of treatment effectiveness for pediatric patients with acute, recurrent and chronic pain. Extensive research has resulted in the availability of a number of valid, reliable and recommended tools for assessing children ′s pain. Yet, evidence suggests children′s pain is still not optimally assessed or treated. In this article, we provide an overview of pain assessment for premature neonates to adolescents. The difference between pain assessment and measurement will be highlighted; and the key steps in pain asse ssment identified. (S...
Source: Seminars in Pediatric Neurology - October 16, 2016 Category: Neurology Authors: Renee C.B. Manworren, Jennifer Stinson Source Type: research
Neuropathic and Myopathic Pain
The evaluation and management of childhood pain syndromes of neuromuscular origin have distinct challenges, as the patterns of disease presentation and the ability of a child to describe symptoms may differ from that of an adult. Advances in scientific and clinical knowledge are leading to significant progress in the care of affected children. The genetic origins of Fabry disease and the inherited form of erythromelalgia are better understood. The increasing interest in neuroimmunology among pediatric neurologists has led to more sophisticated diagnostic and therapeutic approaches. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - October 13, 2016 Category: Neurology Authors: Anthony C. Rodrigues, Peter B. Kang Source Type: research
Pathogenesis of Pain
The pathogenesis of pain sensation includes mechanisms that result in acute and chronic pain. Pain itself is described as an unpleasant sensory and emotional experience beginning with a peripheral stimulus that undergoes a physiologic process ultimately resulting in the sensation of pain.1 Biologists recognize pain to be a common sign of potential tissue damage. Hence pain sensation is protective in function. However, pathological states of pain exist secondary to disruption of the nociceptive process both peripherally and centrally and / or secondary to psychological conditions. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - October 13, 2016 Category: Neurology Authors: Pradeep Dinakar, Alexandra Marion Stillman Source Type: research
