Neurodegenerative diseases share the common property of neuronal loss in the higher-order association and limbic cortices or the extrapyramidal and pyramidal motor systems. In addition, oligodendroglia, astrocytes, and microglia have been implicated in fundamental abnormalities of virtually every neurodegenerative disorder. The particular system affected, more importantly the distribution of the pathology, determines the clinical presentation. While the most common dementia and movement disorders, such as Alzheimer’s disease, Lewy body disease, and frontotemporal lobar degeneration with TDP-43 pathology, including amyotrophic lateral sclerosis, have been extensively studied, many less common, even rare neurodegenerative disorders have gained more attention in recent years. This shift in focus is perhaps driven, in part, by the severely underestimated financial costs associated with these diseases, as well as the immense emotional burden they impose on patients and their caregivers. This book presents the most recent developments in rare neurodegenerative disorders. Insights gained from the investigation of pathophysiological mechanisms of these rare disorders may lead to the development of therapeutic strategies for more prevalent neurodegenerative disorders. In addition to highlighting advancements in research, the book discusses the significant challenges faced by researchers and healthcare professionals in diagnosing and treating rare diseases. It emphasizes the critical need for continued funding and support for research, which is essential to improving patient outcomes and advancing our understanding of these complex conditions.

Recognizing patterns of disease can be the first step to successful management of the child with a neurological problem; this is emphasized by the authors throughout the book. Their concise, precise account reflects the remarkable recent advances in pediatric neurology and related disciplines, while stressing the fundamentals of clinical examination and history taking in reaching an accurate diagnosis. The book begins with a detailed discussion of neurological examination techniques and the basic formulation of differential diagnoses and management, using neuroradiology, electrophysiology, cerebrospinal fluids, genetic and metabolic testing. The second section of the book follows a problem-based approach, just as diseases present in the real world. It employs practical, symptom- and sign-based strategies for virtually all conditions encountered by the practitioner. The final section on neurological emergencies recognizes that such conditions present first to someone other than a pediatric neurologist. This new color handbook is illustrated throughout by a wealth of top-quality clinical photos and imaging, and is of interest to pediatric neurologists, general pediatricians, primary care physicians and emergency physicians, in training and practice.

This concise and comprehensive volume updates health professionals on recent advances in the field of pediatrics. It includes chapters in every subspecialty of pediatrics, such as critical care, development emergency medicine and genetics. Ranging from traditional disciplines such as infectious disease and cardiology to more current disciplines such as adolescent medicine, metabolics and genetics this is an indispensable guide for the busy clinician who wishes to stay up-to date with latest advances in the field. Through the use of summaries and bullet points, the book conciselly describes the latest recommendations and guidelines in pediatrics and provides a good overview of the available technology for each subspecialty. The team of authors is made up of experienced clinicians and researchers in their respective fields. This book appeals to pediatricians, family doctors, nurses and nurse practitioners, allied health professionals, and health researchers.

The inspiring story of a mother who took unimaginable tragedy and used her grief as a force to do good by transforming the lives of others. When Maria Kefalas’s daughter Calliope was diagnosed with a degenerative, uncurable genetic disease, the last thing Maria expected to discover in herself was a superpower. She and her husband, Pat, were head over heels in love with their youngest daughter, whose spirit, dancing eyes, and appetite for life captured the best of each of them. When they learned that Cal had MLD (metachromatic leukodystrophy), their world was shattered. But as she spent time listening to and learning from Cal, Maria developed the superpower of grief. It made her a fearless warrior for her daughter. And it gave her voice a bell-like clarity—poignant and funny all at once. This superpower of grief also revealed a miracle—not the conventional sort that fuels the prayers of friends and strangers but a realization that, in order to save themselves, Maria and Pat would need to find a way to save others. And so, with their two older children, they set out to raise money so that they, in their son PJ’s words, could “find a cure for Cal’s disease.” They had no way of knowing that a research team in Italy was closing in on an effective gene therapy for MLD. Though the therapy came too late to help Cal, this news would be the start of an unexpected journey that would introduce Maria and her family to world-famous scientists, brilliant doctors, biotech CEOs, a Hall of Fame NFL quarterback, and a wise nun, and it would also involve selling 50 thousand cupcakes. They would travel to the FDA, the NIH, and the halls of Congress in search of a cure that would never save their child. And their lives would become inextricably intertwined with the families of 13 children whose lives would be transformed by the biggest medical breakthrough in a generation. A memoir about heartbreak that is also about joy, Harnessing Grief is both unsparing and generous. Steeped in love, it is a story about possibility.

“This book is highly recommended for those who will engage with pediatric patients as an excellent starting point to learning most clinically relevant management." ---Doody's Review Service, 3 stars Comprehensive and accessible, Pediatric Neurology is the first reference designed for trainees and nonspecialists in search of targeted information on the diagnosis and management of neurologic conditions in children. Providing a broad window on the primary disorders seen in childhood, this book interweaves the expertise of field leaders from top national institutions to concisely distill the foundations of clinical pediatric neurology. Complete with up-to-date disease guidelines and evidence-based treatment recommendations, this book serves as a starting point for physicians and other health professionals who wish to delve into fundamentals of current pediatric neurology practice. Beginning with an overview of the clinical assessment of infants and children, the book features dedicated chapters to all major disorders and conditions likely to be encountered in the pediatric population. Chapters include current information on epidemiology, clinical manifestations, diagnosis, and approaches to management for each condition in addition to tables summarizing key takeaways and detailed illustrations. Using plain language and a clear presentation of information throughout, the book is packed with the clinical wisdom needed for tackling such a complex field. With special emphasis on essential patient care concepts, Pediatric Neurology is the trusted resource for residents, general neurologists, pediatricians, medical students, and other practitioners who care for children and adolescents with neurological disease. Key Features: Introduces the foundations of clinical pediatric neurology Multi-purpose resource for point-of-care use, clinical rotations, or board preparation Organized by disease category to enhance accessibility and retrieval of key information Features chapters written by leading educators and clinicians in the field Incorporates up-to-date disease guidelines, latest FDA-approved drugs, and evidence-based treatment recommendations Purchase includes digital access for use on most mobile devices or computers