Rett Disorder and the Developing Brain
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Product details:
- Publisher OUP Oxford
- Date of Publication 10 March 2005
- ISBN 9780198568155
- Binding Paperback
- No. of pages400 pages
- Size 240x168x23 mm
- Weight 683 g
- Language English
- Illustrations line figures 0
Categories
Short description:
Rett disorder, named after Andreas Rett who first described the condition in 1966, is preferentially found in females, and involves the functions on which intelligence and expression depend - learning, hand use and speech. The recent discovery of mutations in a specific gene, selectively silencing the expression of other genes, supports the hypothesis that the condition is a developmental disorder, which should be viewed in the context of early brain growth. This book presents a comprehensive review of the clinical, genetic, anatomical and physiological aspects of Rett disorder, calling on the expertise of a distinguished team of international experts in the field. The contributions bring our understanding of the 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.
MoreLong description:
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.
For clinicians involved in the diagnosis and management of patients with Rett syndrome, this book is an excellent resource, but will also have great appeal for scientists from a variety of disciplines in the neurological sciences.
Table of Contents:
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
