Mariani Foundation Paediatric Neurology

Progressive myoclonus epilepsies are a group of rare genetic diseases. The onset generally occurs around puberty in otherwise healthy children. They all involve myoclonus and epilepsy but then differ depending on the different symptoms that are related.The outlook of these diseases is nearly always unfavourable and treatment only focuses on symptoms. Much planning will be needed to improve the quality of life for these children who will gradually become over time more and more severely disabled.Among these diseases, the most notable is Unverricht-Lundborg disease and Lafora disease, among others. However, the genetic mechanism of these diseases is simple and has been perfectly identified over time thanks to advancements in scientific discoveries. Hope lies in gene therapy, which in the near future will most likely be able to optimise treatment and even cure these children.This book addresses the situation by relying on clinicians' descriptions, studies led by biologists on genetic variations and mutations and the work carried out daily by numerous scientists researching into treatment.By retracing the history of these diseases, from discovery and identification of mutated genes to the review of syndromes they encompass, this book marks the path we have travelled but also the distance we have yet to go. Issue paired with Epileptic Disorders The Educational ILAE Journal.

The rising number of cases in visual disorders during development, over the last decade, has strongly influenced approaches to diagnosis and rehabilitation.Moreover, the study of visual function has evolved not only within an ophthalmological, but also a neurodevelopmental framework: advances in our understanding of the maturation and plasticity of visual system functioning have further guided the progress of such approaches. As a result, the key importance of the developmental age is now widely acknowledged, from as early as the first months of life.This book provides an overview of the diagnosis and treatment of visual disorders in relation to advances in neurodevelopmental studies. The concept of early and multimodal management is discussed, with a focus on neuro-psycho-ophthalmological issues. The need for training courses aimed at updating semiological aspects and methodological and rehabilitative strategies is established, as being of significant value to clinical practice.4 parts:General overviewCerebral visual impairments: from diagnosis to rehabilitationRehabilitation of visual impairmentsVisual disorders and neurological diseases

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 palsy CNS 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.

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. Table of content: The cerebellum : structure and function Cerebellar congenital malformations : neuroimaging and neuropathology Cerebellar congenital malformations : syndromes Acquired cerebellar disorders Assistance and rehabilitation in cerebellar disorders