Chromosomal anomalies and mental retardation. From genotypes to neuropsychological phenotypes of genetic syndromes at high incidence [Kindle Edition]

Genetic syndromes are diseases that can be caused by an alteration in the number or structure of one or more chromosomes. In order to address the study of genetic syndromes, we must refer to those behaviours that are an integral part of organic disorders: the genetic damage produces a sequence of behaviours through neurobiological and neuropsychological mechanisms. Every genetic syndrome presents abnormalities that are more incisive than others and not all individuals affected with a certain disease present all the characteristics. In fact, genetic syndromes can be differentiated by such aspects as: being more or less severe; IQ stability can vary with the passing of time; cognitive profiles are different; genetic conditionings on the emotional, social and behavioural development can be different. The First Part of this book will study issues related to chromosomal abnormalities and genetically based human diseases. The Second Part will deal with topics regarding mental retardation, the clinical features, the neuropsychological evaluation, the objectives of rehabilitation and the prognosis. Moreover, the genetic, phenotypic and neuropsychological traits of Down Syndrome and Fragile X Syndrome will be described, since they are respectively the first and second cause of mental retardation due to their considerable incidence. Furthermore, though the cause is attributable to chromosomal abnormalities in only an exceptionally rare number of cases, the issues related to Rett Syndrome will be dealt with, since it is one of the most common causes of female mental retardation. The Third Part will briefly describe the genetic cause and clinical picture of the rare genetic syndromes which are Cri du Chat Syndrome, Cornelia de Lange Syndrome, Williams Syndrome and Prader-Willi Syndrome. The Fourth Part will deal with the issues related to the social aspects of disability, specifically: family and disability, school and disability, occupation and disability. The book concludes with a glossary of the scientific terminology used.