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Rett Syndrome

Walter Kaufmann (Editor)

ISBN: 978-1-909-96283-5 January 2018 240 Pages


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 Fabio, Jeff Sigafoos and Leopold MG Curfs

6. Motor Abnormalities in Rett Syndrome 62
Jenny Downs and Teresa Temudo

7. Orthopedic Isssues in Rett Syndrome 75
David P Roye Jr, Jenny Downs, Gordon Baikie and Brendan A Williams

8. Sleep Issues in Rett Syndrome 91
Daniel G Glaze, Sarojini Budden, Yoshiko Nomura and Carolyn Ellaway

9. Epilepsy in Rett Syndrome 103
Andreea Nissenkorn, Maria Pintaudi, Daniel G Glaze and Bruria Ben-Zeev

10. Breathing Abnormalities in Rett Syndrome 116
Jan Marino Ramirez, Christopher Scott Ward and Jeffrey L Neul

11. Growth, Feeding an Nutrition, an Bone Health in Rett Syndrome 125
Kathleen J Motil

12. Molecular Complexities of Mecp2 Function in Rett Syndrome 142
Michael L Gonzales and Janine M LaSalle

13. The Neuro Biology of Rett Syndrome 153
Walter E Kaufmann, James H Eubanks, Michael V Johnston and Mary E Blue

14. Treatments for Rett Syndrome: Prospects for Targeted Therapies 170
Wendy A Gold, SakkuBai Naidu and John Christodoulou

15. Rehabilitation in Rett Syndrome 198
Sarojini Budden

16. Perspectives in Rett Syndrome: Where We Are and Where We Should Go 210
Walter E Kaufmann, Alan K Percy, Angus Clarke, Helen Leonard and SakkuBai Naidu

Index 217