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Tuberous Sclerosis Complex
Correlating new genetic data and basic science regarding tuberous sclerosis, this collection covers clinical presentation; reviews history and current diagnostic criteria; and notes recent advances in neuropathology, molecular genetics and neurobiology. Tuberous sclerosis incorporates malformations characterized by disturbances in cellular differentiation and growth. It appears with a complex association of different neurological phenotypes, including seizures, cognitive impairments and autism.
Neurocutaneous Syndromes in Children
Neurocutaneous Syndromes unify a group of rare neurological disorders in which the initial identification depends on simple visual disgnosis. They include a large group of neurological disorders which feature cutaneous and ocular lesions, brain malformations, central and peripheral brain tumours, mental retardation, seizures and psychiatric problems. In the last few years, our knowledge of neurocutaneous syndromes has increased substantially. The aim of this volume is to provide an updated developmental perspective on these multifaceted conditions and to review their major clinical features, in particular their embryological basis, clinical molecular genetics, diagnostic protocols and novel therapeutic approaches.
Malformations of the Nervous System
This volume deals with brain development malformations of the central nervous system, showcasing a unique approach that furthers research through systematic integration of exciting new developments from fields including molecular genetics, neuroimaging, and neuropathology. By integrating data and research from these disciplines, better conceptualization of the mechanisms of the developmental processes is achieved. Clinicians will find invaluable insights into complex issues, including midline hypoplasias, disorders of segmentation of the neural tube, and hamartomatous disorders of cellular lineage, amongst others. The clinical manifestations of central nervous system malformations are also d...
Autistic Spectrum Disorders
Autism is a complex disorder of neurodevelopment resulting in pervasive abnormalities in social interaction and communication, repetitive behaviours and restricted interests. It presents difficult challenges to physicians and other professionals and especially to the parents and families of affected individuals. The aim of this volume is to provide an update on this multi-faceted condition, and to review most of its major features, in particular its biology, genetics and current understanding of its brain basis. The book emphasises the importance of early detection, and spells out appropriate steps for clinical diagnosis and investigations such as neuropsychology, electrophysiology and imaging. Of particular interest are chapters that focus on differential diagnosis, advances in neurogenetics and molecular biology, possible consequences of immunisations and the relation between autism and epilepsy.
Neurocutaneous Syndrome in Development Age
Neurocutaneous syndromes unify a group of rare neurological disorders in which the initial identification depends on simple visual diagnosis. They include a large group of neurological disorders (neurofibromatosis type I, tuberous sclerosis complex, Sturge-Weber Syndrome, Von Hippel Lindau syndrome, hypomelanosis of Ito, and others) which feature cutaneous and ocular lesions, brain malformations, central and peripheral brain tumours, mental retardation, seizures, and psychiatric problems. In the past few years our knowledge of neurocutaneous syndromes has increased dramatically. Detailed information about the clinical features, natural history, and management of these complex multisystem disorders, and new data on the genetics of these conditions, has provided insight into their classification, pathophysiology, molecular biology, and genotype–phenotype correlations.
Neurodevelopmental Disorders: Cognitive Behavioural Phenotypes
In recent years our approach to neurodevelopmental disorders has undergone extraordinary change. This has resulted from tremendous progress in various different disciplines including developmental neuroscience, behavioural and molecular genetics, and developmental neurobiology, and from the very high quality now achievable in neuroimaging and neurophysiological techniques. This publication aims to provide a concise and interdisciplinary approach to the study of the different cognitive/behavioural phenotypes encountered in a wide range of neurodevelopmental disorders. Starting from methodological, nosographic, and assessment premises, the book deals with selected disorders of a defined but still complex genetic aetiology, and concludes with a description of the neuropsychiatric disorders that are most commonly encountered during development.
Current Management in Child Neurology
One in ten children seen in primary care practice and 25% of hospitalized children appear with a neurologic complaint. The fourth edition of Current Management in Child Neurology provides succinct reviews in the form of superb "how-to" chapters on the most common neurological complaints and pathologic conditions seen in pediatric practice. This volume provides clinicians with a state-of-the-art "toolbox" for diagnosis and treatment of the most commonly presented neurologic disorders and dysfunctions in children, including headache, seizures and epilepsy, neurobehavioral disorders, school readiness, developmental delay, trauma, meningitis and encephalitis, injury to the preterm and term brain...
Tuberous Sclerosis Complex
The only comprehensive overview of the molecular basis and clinical features of the genetic disorder tuberous sclerosis, which affects approximately 50,000 people in the US alone. Special focus is placed on novel insights into the signal transduction pathways affected by the disease as well as genotype phenotype correlations, while existing and potential therapies are also discussed in depth. The editors are leading experts in research and treatment of the disease as well as the Vice President of the Tuberous Sclerosis Alliance, the only voluntary health organization for TSC in the US.
