Rett Syndrome [Hardcover]

Among the vast body of literature that has grown around Rett syndrome, this volume is the first to be aimed at both clinicians and researchers. It presents a comprehensive overview of the disorder and examines the areas where gaps in knowledge are most significant.  Rett Syndrome is intended to be a guide for both initial examination and in-depth study of the disorder.   It is a practical text for the physician approaching the disorder for the first time and a valuable reference resource for the specialist or researcher.

Authors’ Appointments vii

Foreword xi

Bengt Hagberg : Leading the Way to Rett Syndrome Today xiii
A tribute by Dr Alan K Percy

Preface xv

Prologue: Personal Perspectives

My ‘Rett’ Story xvii
Bengt Hagberg

A Mother’s Journey xix
Kathy Hunter

A Perspective from the British Isles xxii
Alison Kerr

1. The Diagnosis of Rett Syndrome 1
Walter E Kaufmann and Jeffrey L Neul

2. The Natural History of Rett Syndrome: Building on Recent Experience 14
Alan K Percy and Daniel G Glaze

3. The Clinical Genetics of Rett Syndrome 24
Hayley Archer, John Christodoulou and Angus Clarke

4. Genetic Sources of Variation in Rett Syndrome 41
Sonia Bjorum Brower, Helen Leonard, Francesca Mari, Alessandra Renieri and Jeffrey L Neul

5. Cognition, Communication and Behavior in Individuals with Rett Syndrome 50
Gillian S Townend, Walter E Kaufmann, Peter B Marschik, Rosa Angela FabiolC3