This book provides an update on pediatric neurological disorders with cerebellar involvement. The opening section of the volume is dedicated to the structure and function of cerebellum: the specific development of the cerebellum, unlike other structures of the central nervous system, begins at a later stage of foetal development and lasts longer, even after birth, thus making the cerebellum particularly vulnerable to a wide range of insults, both genetic and acquired. Of particular interest are chapters that focus on cerebellar disorders, which may occur in isolation, or else as part of more complex malformations of the posterior fossa or in association with other supratentorial anomalies. Such conditions may be encountered both as part of ‘static’ congenital encephalopathies as well as in the frame of neurodegenerative or neurometabolic disorders. The recent advances in neuroimaging and genetics have enabled us to characterize and define the genetic basis of an increasing number of paediatric cerebellar disorders. The last part of the volume is dedicated to care and rehabilitation in cerebellar diseases : their correct diagnosis is pivotal in order to address patients to the appropriate genetic testing, plan clinical management and therapeutic strategies, and provide adequate genetic counselling.
An exhaustive review of a fast-growing discipline: cognitive and behavioural neurology Cognitive and behavioural neurology is increasingly the focus of attention from the neurosciences, both in adults and children.This field combines a number of specialties to ensure that neurological conditions are approached from different standpoints. Appropriate cognitive/behavioural evaluation methods should based upon the known characteristics of neuropathology, molecular genetics and neurophysiology of the disorders. This book provides an update on neurocognitive and behavioural deficits observed in developmental neurology: epilepsy,brain malformations,tumours,autistic spectrum disorders,syndromic and non-syndromic intellectual disabilities,cerebral palsyCNS progressive disorders. It aims to describe cognitive/behavioural phenotypes, define indications for treatment and rehabilitation, and enhance knowledge acquired from clinical studies. The contents are addressed to child neurologists and psychiatrists, psychologists, paediaricians, behavioural and speech therapists.
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.
Autism is an extremely complex neurodevelopmental disorder that is expressed in a spectrum of phenotypes and is characterised by impaired reciprocal social communication and stereotyped patterns of interests and activities. Its aetiopathogenesis remains poorly understood. This exhaustive synthesis discusses various aspects: A focus on the neurobiology of autism: the candidate genes implicate an involvement of numerous brain regions and a concomitant malfunctioning of neurotransmitter, immunologic, and other mechanisms; The most incisive rehabilitation models in their original formulation and the results achieved with the same or similar protocols in Italian centres (understanding, language therapy, social skill training; The psychopharmacologic options for the condition of autism per se and for its associated, very frequent, comorbidities. It suggests a potential influence on professional practice and enables an up-to-date approach to effective diagnosis and treatment.
Advances in the neurocognitive sciences, aided by increased imaging power, have extensively confirmed that during early development specific areas of a child’s brain are designed to process specific functions — neurologic, cognitive, linguistic, motoric, and visuospatial, among others — and that this processing involves globally complex interconnections with other areas distributed throughout the brain: a lesion in a given area interferes with the functioning and coherence of the system as a whole. This volume discusses the consequences of early brain injury to many parts of the brain, including the basal ganglia, with their related disorders of aphasia, OCD, and AD/HD, as well as white matter and its associated neuropsychological impairment of intelligence, language, and visuoperception. The corpus callosum and cerebellum are studied as they relate to learning motor sequences and language as well as communication disorders and social behavior. This book also looks at mirror neurons as they affect the understanding of others’ intentions and the development of empathy and gestural and other forms of language. The implications of these findings are examined since they have a critical effect on the rehabilitative and educational efforts that are being designed to mitigate the effects of early brain lesions on the growing child.
An exhaustive review of a fast-growing discipline: cognitive and behavioural neurology Cognitive and behavioural neurology is increasingly the focus of attention from the neurosciences, both in adults and children.This field combines a number of specialties to ensure that neurological conditions are approached from different standpoints. Appropriate cognitive/behavioural evaluation methods should based upon the known characteristics of neuropathology, molecular genetics and neurophysiology of the disorders. This book provides an update on neurocognitive and behavioural deficits observed in developmental neurology: epilepsy,brain malformations,tumours,autistic spectrum disorders,syndromic and non-syndromic intellectual disabilities,cerebral palsyCNS progressive disorders. It aims to describe cognitive/behavioural phenotypes, define indications for treatment and rehabilitation, and enhance knowledge acquired from clinical studies. The contents are addressed to child neurologists and psychiatrists, psychologists, paediaricians, behavioural and speech therapists.
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.
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