Neuropediatrics Recent Advances And Novel Therapeutic Approaches

Neuropediatrics is a branch of health care that involves the diagnosis and treatment of congenital and acquired diseases of the central and peripheral nervous systems in children and adolescents. In history, as the medical care opportunities for severe neural injuries were minimal, children with brain damage were usually rejected and many of them died early from infections, inappropriate treatment, and neglect. Since the middle of the twentieth century, due to the development of neuropathology and advanced brain diagnostic tools, neural damage during childbirth was for the first time defined as the most fundamental cause of cerebral injury, bringing attention to the focus of brain damage. Since then, novel scientific approaches have made extraordinary improvements in the prevention, diagnosis, and therapy of infants and children with neural injuries. However, there are still major scientific, ethical, and therapeutic challenges for the future, especially in prenatal diagnosis, neonatology, intensive care, therapy, and more. This book offers comprehensive knowledge about the current state of the art in neuropediatrics, concentrating on the most significant evidence-based advances in this important field.

The neuromuscular disorders (NMDs) involve many different genetic and acquired diseases. Corticosteroids (e.g., prednisone and deflazacort) are prescribed for some NMDs as a palliative treatment to slow down disease progression to some extent. For the vast majority of NMDs, no specific therapy is currently available that stops progression or reverses the clinical deficits of the diseases. However, recent progress with different therapeutic approaches is now resulting in numerous clinical trials. In this chapter, we give an overview of the current state of the art, opportunities and challenges for gene therapy, cell therapy, antisense-mediated modulation of splicing, and numerous drug therapies for NMDs in general, and Duchenne muscular dystrophy as a paradigm in particular. Although none of the proposed strategies has yet proven to be of therapeutic value in patients, it is reasonable to expect that clinical efficacy will soon be demonstrated for some of the more advanced approaches.

The child is neither an adult miniature nor an immature human being: at each age, it expresses specific abilities that optimize adaptation to its environment and development of new acquisitions. Diseases in children cover all specialties encountered in adulthood, and neurology involves a particularly large area, ranging from the brain to the striated muscle, the generation and functioning of which require half the genes of the whole genome and a majority of mitochondrial ones. Human being nervous system is sensitive to prenatal aggression, is particularly immature at birth and development may be affected by a whole range of age-dependent disorders distinct from those that occur in adults. Even diseases more often encountered in adulthood than childhood may have specific expression in the developing nervous system. The course of chronic neurological diseases beginning before adolescence remains distinct from that of adult pathology – not only from the cognitive but also motor perspective, right into adulthood, and a whole area is developing for adult neurologists to care for these children with persisting neurological diseases when they become adults. Just as pediatric neurology evolved as an identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy, neuromuscular disease, stroke, malformations, neonatal neurology, metabolic diseases, etc., that the general pediatric neurologist no longer can reasonably possess in-depth expertise in all areas, particularly in dealing with complex cases. Subspecialty expertise thus is provided to some trainees through fellowship programmes following a general pediatric neurology residency and many of these fellowships include training in research. Since the infectious context, the genetic background and medical practice vary throughout the world, this diversity needs to be represented in a pediatric neurology textbook. Taken together, and although brain malformations (H. Sarnat & P. Curatolo, 2007) and oncology (W. Grisold & R. Soffietti) are covered in detail in other volumes of the same series and therefore only briefly addressed here, these considerations justify the number of volumes, and the number of authors who contributed from all over the world. Experts in the different subspecialties also contributed to design the general framework and contents of the book. Special emphasis is given to the developmental aspect, and normal development is reminded whenever needed – brain, muscle and the immune system. The course of chronic diseases into adulthood and ethical issues specific to the developing nervous system are also addressed. A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology International list of contributors including the leading workers in the field Describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care

Since 1975, Dr. Kenneth Swaiman’s classic text has been the reference of choice for authoritative guidance in pediatric neurology, and the 6th Edition continues this tradition of excellence with thorough revisions that bring you fully up to date with all that’s new in the field. Five new sections, 62 new chapters, 4 new editors, and a reconfigured format make this a comprehensive and clearly-written resource for the experienced clinician as well as the physician-in-training. Nearly 3,000 line drawings, photographs, tables, and boxes highlight the text, clarify key concepts, and make it easy to find information quickly. New content includes 12 new epilepsy chapters, 5 new cerebrovascular chapters, and 13 new neurooncology chapters, as well as new chapters on neuroimmunology and neuromuscular disorders, as well as chapters focused on clinical care (e.g., Counseling Families, Practice Guidelines, Transitional Care, Personalized Medicine, Special Educational Law, Outcome Measurements, Neurorehabilitation, Impact of Computer Resources, and Training Issues). Additional new chapters cover topics related to the developmental connectome, stem cell transplantation, and cellular and animal models of neurological disease. Greatly expanded sections to increase your knowledge of perinatal acquired and congenital disorders, neurodevelopmental disabilities, pediatric epilepsy, and nonepileptiform paroxysmal disorders and disorders of sleep. Coverage of new, emerging, or controversial topics includes developmental encephalopathies, non-verbal learning disorders, and the pharmacological and future genetic treatment of neurodevelopmental disabilities.

The child is neither an adult miniature nor an immature human being: at each age, it expresses specific abilities that optimize adaptation to its environment and development of new acquisitions. Diseases in children cover all specialties encountered in adulthood, and neurology involves a particularly large area, ranging from the brain to the striated muscle, the generation and functioning of which require half the genes of the whole genome and a majority of mitochondrial ones. Human being nervous system is sensitive to prenatal aggression, is particularly immature at birth and development may be affected by a whole range of age-dependent disorders distinct from those that occur in adults. Even diseases more often encountered in adulthood than childhood may have specific expression in the developing nervous system. The course of chronic neurological diseases beginning before adolescence remains distinct from that of adult pathology – not only from the cognitive but also motor perspective, right into adulthood, and a whole area is developing for adult neurologists to care for these children with persisting neurological diseases when they become adults. Just as pediatric neurology evolved as an identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy, neuromuscular disease, stroke, malformations, neonatal neurology, metabolic diseases, etc., that the general pediatric neurologist no longer can reasonably possess in-depth expertise in all areas, particularly in dealing with complex cases. Subspecialty expertise thus is provided to some trainees through fellowship programmes following a general pediatric neurology residency and many of these fellowships include training in research. Since the infectious context, the genetic background and medical practice vary throughout the world, this diversity needs to be represented in a pediatric neurology textbook. Taken together, and although brain malformations (H. Sarnat & P. Curatolo, 2007) and oncology (W. Grisold & R. Soffietti) are covered in detail in other volumes of the same series and therefore only briefly addressed here, these considerations justify the number of volumes, and the number of authors who contributed from all over the world. Experts in the different subspecialties also contributed to design the general framework and contents of the book. Special emphasis is given to the developmental aspect, and normal development is reminded whenever needed – brain, muscle and the immune system. The course of chronic diseases into adulthood and ethical issues specific to the developing nervous system are also addressed. A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology International list of contributors including the leading workers in the field Describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care

Swaiman's Pediatric Neurology - E-Book

Cortical maturation is associated with a series of developmental programs encompassing neuronal and network-driven patterns. Thus, voltage-gated and synapse-driven ionic currents are very different in immature and adult neurons with slower kinetics in the former than in the latter. These features are neuron and developmental stage dependent. GABA, which is the main inhibitory neurotransmitter in adult brain, depolarizes and excites immature neurons and its actions are thought to exert a trophic role in developmental processes. Networks follow a parallel sequence with voltage-gated calcium currents followed by calcium plateaux and synapse-driven patterns in vitro. In vivo, early activity exhibits discontinuous temporal organization with alternating bursts. Early cortical patterns are driven by sensory input from the periphery providing a basis for activity-dependent modulation of the cortical networks formation. These features and notably the excitatory GABA underlie the high susceptibility of immature neurons to seizures. Alterations of these sequences play a central role in developmental malformations, notably migration disorders and associated neurological sequelae.