Rett Syndrome – Chapter 16: Perspectives in Rett Syndrome (ebook)


ChapterĀ 16 – Perspectives in Rett Syndrome: Where We Are and Where We Should Go

Rett syndrome (RTT) became known worldwide following the landmark paper of Hagberg and colleagues. They had made independent assessments of girls or women who had the same profile as those described by Andreas Rett in 1966. Based on the work of these eminent clinicians, the understanding of RTT has advanced in clinical and laboratory studies, guided by the important identification of the gene, which is modified in most girls and women with features of this disorder. This remarkable progress, only 16 years after the worldwide reporting of this disorder has led to critical laboratory progress in understanding and correcting abnormalities in MeCP2-deficient animal and human cells. Looking back on this progress, it is informative to understand the perspective of three individuals who devoted much of their lives to improving our understanding of this unique neurodevelopmental disorder: Bengt Hagberg, Kathy Hunter, and Alison Kerr. Their viewpoints can guide researchers and clinicians in the next 50 years and beyond. Taking inspiration from the aforementioned foundational work, here we provide perspectives on where we are and where we should go.

About the book

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.