“Rett Syndrome”, W. E. Kaufmann, 2017

AUTHORS’ APPOINTMENTS (vii)

FOREWORD (xi)

BENGT HAGBERG: LEADING THE WAY TO RETT SYNDROME TODAY. A Tribute by Dr. Alan K Percy (xiii)

PREFACE (xv)

PROLOGUE: PERSONAL PERSPECTIVES
My ‘Rett’ Story. Bengt Hagberg (xvii)
A Mother’s Journey. Kathy Hunter (xix)
A Perspective from the British Isles. Alison Kerr (xxii)

1. THE DIAGNOSIS OF RETT SYNDROME. Walter E Kaufmann and Jeffrey L Neul (1)

2. THE NATURAL HISTORY OF RETT SYNDROME: BUILDING ON RECENT EXPERIENCE. Alan K Percy and Daniel G Glaze (14)

3. THE CLINICAL GENETICS OF RETT SYNDROME. Hayley Archer, John Christodoulou and Angus Clarke (24)

4. GENETIC SOURCES OF VARIATION IN RETT SYNDROME. Sonia Bjorum Brower, Helen Leonard, Francesca Mari, Alessandra Renieri and Jeffrey L Neul (41)

5. COGNITION, COMMUNICATION AND BEHAVIOR IN INDIVIDUALS WITH RETT SYNDROME. Gillian S Townend, Walter E Kaufmann, Peter B Marschik, Rosa Angela Fabio, Jeff Sigafoos and Leopold MG Curfs (50)

6. MOTOR ABNORMALITIES IN RETT SYNDROME. Jenny Downs and Teresa Temudo (62)

7. ORTHOPEDIC ISSUES IN RETT SYNDROME. David P Roye Jr, Jenny Downs, Gordon Baikie and Brendan A Williams (75)

8. SLEEP ISSUES IN RETT SYNDROME. Daniel G Glaze, Sarojini Budden, Yoshiko Nomura and Carolyn Ellaway (91)

9. EPILEPSY IN RETT SYNDROME. Andrea Nissenkorn, Maria Pintaudi, Daniel G Glaze and Bruria Ben-Zeev (103)

10. BREATHING ABNORMALITIES IN RETT SYNDROME. Jan Marino Ramirez, Christopher Scott Ward and Jeffrey L Neul (116)

11. GROWTH, FEEDING AND NUTRITION, AND BONE HEALTH IN RETT SYNDROME. Kathleen J Motil (125)

12. MOLECULAR COMPLEXITIES OF MeCP2 FUNCTION IN RETT SYNDROME. Michael L Gonzales and Janine M LaSalle (142)

13. THE NEUROBIOLOGY OF RETT SYNDROME. Walter E Kaufmann, James H Eubanks, Michael V Johnston and Mary E Blue (153)

14. TREATMENTS FOR RETT SYNDROME: PROSPECTS FOR TARGETES THERAPIES. Wendy A Gold, SakkuBai Naidu and John Christodoulou (170)

15. REHABILITATION IN RETT SYNDROME. Sarojini Budden (198)

16. PERSPECTIVES IN RETT SYNDROME: WHERE WE ARE AND WHERE WE SHOULD GO. Walter E Kaufmann, Alan K Percy, Angus Clarke, Helen Leonard and SakkuBai Naidu (210)

INDEX (217)