Rett syndrome

Title Page......Page 2
Copyright Page......Page 3
Contents......Page 4
AUTHORS’ APPOINTMENTS......Page 6
FOREWORD......Page 10
BENGT HAGBERG : LEADING THE WAY TO RETT SYNDROME TODAY......Page 12
PREFACE......Page 14
My ‘Rett’ Story......Page 16
A Mother’s Journey......Page 19
A Perspective from the British Isles......Page 22
1. THE DIAGNOSIS OF RETT SYNDROME......Page 26
2. THE NATURAL HISTORY OF RETT SYNDROME: BUILDING ON RECENT EXPERIENCE......Page 39
3. THE CLINICAL GENETICS OF RETT SYNDROME......Page 49
4. GENETIC SOURCES OF VARIATION IN RETT SYNDROME......Page 66
5. COGNITION, COMMUNICATION AND BEHAVIOR IN INDIVIDUALS WITH RETT SYNDROME......Page 75
6. MOTOR ABNORMALITIES IN RETT SYNDROME......Page 87
7. ORTHOPEDIC ISSUES IN RETT SYNDROME......Page 101
8. SLEEP ISSUES IN RETT SYNDROME......Page 117
9. EPILEPSY IN RETT SYNDROME......Page 130
10. BREATHING ABNORMALITIES IN RETT SYNDROME......Page 143
11. GROWTH, FEEDING AND NUTRITION, AND BONE HEALTH IN RETT SYNDROME......Page 152
12. MOLECULAR COMPLEXITIES OF MeCP2 FUNCTION IN RETT SYNDROME......Page 169
13. THE NEUROBIOLOGY OF RETT SYNDROME......Page 180
14. TREATMENTS FOR RETT SYNDROME: PROSPECTS FOR TARGETED THERAPIES......Page 198
15. REHABILITATION IN RETT SYNDROME......Page 226
16. PERSPECTIVES IN RETT SYNDROME: WHERE WE ARE AND WHERE WE SHOULD GO......Page 239