
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 mutations have 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, concentrating on 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 when there are real possibilities for beneficial interventions.
This text investigates the clinical, genetic, and neuro-physiological mechanisms underlying Rett disorder to provide a comprehensive framework for understanding its impact on the developing brain. Authors Alison Kerr and Ingegerd Witt Engerström synthesize contributions from an international team of active researchers to document the transition from descriptive clinical observation to molecular understanding following the discovery of MeCP2 gene mutations. The work integrates neuro-anatomical, neuro-chemical, and autonomic system data to explain the complex manifestations of the condition.
What You Will Find
Scope Limits
Experts recognize this volume as a foundational text that captures a critical turning point in the study of Rett disorder. Readers frequently note the academic density of the prose, which is tailored for clinicians and researchers seeking a deep dive into the biological underpinnings of the condition.
Page Count:
400
Publication Date:
2001-04-26
Publisher:
Oxford University Press
ISBN-10:
0192630830
ISBN-13:
9780192630834
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