In  recent years our approach to neurodevelopmental disorders has undergone |l|extraordinary change.This has resulted from tremendous progress in various several 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.

Fondazione Pierfranco e Luisa Mariani neurologia infantile
John Libbey Eurotext

This is the first book of a series dedicated to developmental cognitive neuroscience. It collects together the scientific contributions to an updating course that recently outlined the emerging concepts of cognitive/behavioural phenotypes in some of the neurodevelopmental disorders.

Over the past few years, the study of these disorders has undergone remarkable change, gaining greater accuracy in both nosography and clinical description. The study of neurodevelopmental disorders once relied on data obtained directly from the clinical and neuropsychological evaluation of the patient, where the diseased condition was considered a sort of 'natural experi­ment'; the intention of that approach was to study in vivo the deviant neuropsychological development and to provide clues that could be useful in the study of normal development. However, studies focusing on either the genetic or the neuroanatomical basis of neurodevelop­mental disorders involved different disciplines and the results were difficult to synthesize -researchers were often unaware of studies being carried out on the same disorder in other fields.

The approach to neurodevelopmental disorders has changed dramatically in the last few years as tremendous development has taken place simultaneously in different disciplines. The extra­ordinary advances in molecular biology, behavioural genetics, developmental neurobiology, and in vivo imaging techniques, together with the conceptual and methodological progress made in the field of cognitive neuroscience, has allowed the accurate and subtle dissection of the various mental and cognitive processes, producing operational models within the different domains of the human mind.

There is now a strictly integrated connection between the different disciplines, and research studies are designed to obtain data that correlate the features of cognitive/behavioural devel­opment and the genetic and neuropathological aetiology in the one disorder. These researches cross the boundaries between biology and cognitive neuroscience in an attempt to elucidate how a given genetic alteration may lead to 'altered neural development', particularly of those cerebral areas and structures that will subsequently be responsible for processing certain cog­nitive and behavioural functions.

The intrinsic meaning of such a biological/evolutionary perspective on disorders featuring pri­marily cognitive/behavioural deficits emphasizes the environmental variables and their com­bined effect with the genetic background from the earliest stages of embryonic development; it thus sharply distinguishes these disorders from those with their onset in adulthood.

The aim of this book is therefore to outline and propose these models of the cross-disciplinary approach, and to provide a stimulus for studies in a currently most exciting field.

The book is laid out in several sections. The opening chapter defines the current view of developmental cognitive neuroscience, including the study and future perspectives of neurode-velopmental disorders. The following chapters deal with the proper definition of the behavioural phenotype and with the genotype/phenotype correlations; in succession are described - both in general and in selected cases - the methods of neurocognitive and behavioural evaluation necessary for the correct identification of the different phenotypes.

The next section collects together several chapters dedicated to the cognitive/behavioural phe­notypes that are typical of certain genetically defined syndromes and neurological disorders (fragile X syndrome, Williams syndrome, Turner syndrome, tuberous sclerosis, and Duchenne progressive muscular dystrophy).

The following chapters deal with the neurodevelopmental disorders of complex genetic aeti­ology, for which the precise molecular basis remains to be defined, such as dyslexia, specific language impairment disorders, and autism.

Finally, the closing section comprises chapters dedicated to the clinical phenotypes of the most frequent neuropsychiatric disorders: attention deficit and hyperactivity disorder, disorders of mood, Gilles de la Tourette syndrome, and the obsessive/compulsive disorders.