Rett disorder, first described by Andreas Rett in 1966, is a condition which involves the functions on which intelligence and expression depend. It is probably the most common genetic disorder encountered in profoundly intellectually disabled females. Its many manifestations include epilepsy, scoliosis, nutritional difficulties, and disorders of mood and movement. This book provides an up-to-date account of current research into the disorder at a time when the causative mutationshave just been discovered on the MeCP2 gene. The first section of the book presents the clinical signs and the latest research into the genetic, neuro- anatomical and neuro-chemical aspects of Rett disorder. The second section moves on to deal with the neuro-physiological research, concentratingon the autonomic system, which is deeply implicated in the disease mechanisms. The final section of the book examines the behavioural and psychological features of Rett disorder and discusses issues relating to communication. The chapters are written by a distinguished, international team of experts, all currently active in research. The contributions bring our understanding of the Rett disorder right up-to-date, as the study of the condition moves from an era of description into a time whenthere are real possibilities for beneficial interventions.
Preface; Towards the genetic basis of Rett syndrome; The Rett disorder and the developing brain; Cortical development in Rett syndrome: molecular, neurochemical & anatomical aspects; The Rett syndrome: proposed mechanism of genetic origin & inheritance; Amino acid receptor studies in Rett syndrome; Melatonin and the Rett syndrome disorder; Early abnormality in Pterin levels in Rett syndrome; Neurotrophic factors in the pathogenesis of Rett syndrome; The central autonomic disturbance in Rett syndrome; The role of genetic & environmental factors in brain development; The monoamine hypothesis in Rett syndrome; The central and peripheral autonomic nervous system & possible implications in Rett syndrome patients; Autonomic dysfunction & sudden death in Rett syndrome; Feeding in Rett syndrome; Oropharyngeal dysfunction & upper gastrointestinal dysmotility; Possible link between skeletal & electrocardiographic abnormalities & autonomic dysfunction in Rett syndrome; The electroencephalogram in Rett syndrome; Electromagnetic stimulation of motor neurons; The morphological substrate for communication; Early infant intelligence and Rett syndrome; Musical responsiveness in the Rett disorder; Behavioural & emotional features of Rett syndrome; Vision in Rett syndrome: studies using evoked potential & event-related potentials; Rett Disorder - the developmental perspective;
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