Rett Syndrome

Clinics in Developmental Medicine/Mac Keith Press, Rett Syndrome, Edited by Walter E Kaufmann, 2017, ISBN 978–1-909962–83–5

Rett syndrome continues to be one of the most fascinating and incompletely understood genetic disorders in child neurology. Before the end of the genome project, at times where every single gene of interest was characterized step by step by laboratories that took years to do the job, MECP2 was first on the work list of oncologists for its relation with the chromatin complex. To my understanding, it is still not entirely clear why a MECP2 defect results in a more or less purely neurologic disorder. I found it pleasant that such an emphasis is given on the molecular origin and the neurobiologic basis of the syndrome. The book by Kaufmann and coauthors covers Rett syndrome comprehensively, starting with an ample introduction on the history and course of its recognition. In this part of the book, I found the personal view of a Rett girĺs mother (“A Motheŕs Journey”) most exceptional and touching. The book then is divided into 16 chapters:

1. The Diagnosis of Rett Syndrome

2. The Natural History of Rett Syndrome: Building on Recent Experience

3. The Clinical Genetics of Rett Syndrome

4. Genetic Sources of Variation in Rett Syndrome

5. Cognition, Communication, and Behavior in Individuals with Rett Syndrome

6. Motor Abnormalities in Rett Syndrome

7. Orthopedic Issues in Rett Syndrome

8. Sleep Issues in Rett Syndrome

9. Epilepsy in Rett Syndrome

10. Breathing Abnormalities in Rett Syndrome

11. Growth, Feeding and Nutrition, and Bone Health in Rett Syndrome

12. Molecular Complexities of MECP2 Function in Rett Syndrome

13. The Neurobiology of Rett Syndrome

14. Treatments for Rett Syndrome: Prospects for Targeted Therapies

15. Rehabilitation in Rett Syndrome

16. Perspectives in Rett Syndrome

The authors of the individual chapters are experts in their fields and cover their individual topics extensively. All current and former clinical trials, ranging from ketogenic diet, creatine monohydrate over dextromethorphan to several small molecules, are listed together with their observational outcome, side effects, etc. Nutrition, bone health, and treatment of breathing abnormalities are also covered. It must be said, however, that for many of the addressed problems of patients with Rett syndrome, there are no “miracle” remedies or cures. However, it is reassuring for any health professional to know where the possibilities and limitations of support lie. This book will suit well in the bookshelf of any health care professional who is frequented by children with Rett syndrome.