%0 Journal Article
%T Rett Syndrome: Coming to Terms with Treatment
%A Alan Percy
%J Advances in Neuroscience
%D 2014
%R 10.1155/2014/345270
%X Rett syndrome (RTT) has experienced remarkable progress over the past three decades since emerging as a disorder of worldwide proportions, particularly with discovery of the linkage of RTT to MECP2 mutations. The advances in clinical research and the increasing pace of basic science investigations have accelerated the pattern of discovery and understanding. Clinical trials are ongoing and others are planned. A review of these events and the prospects for continued success are highlighted below. The girls and women encountered today with RTT are, overall, in better general, neurologic, and behavioral health than those encountered earlier. This represents important progress worldwide from the concerted efforts of a broadly based and diverse clinical and basic research consortium as well as the efforts of parents, family, and friends. 1. Introduction: Early History of Rett Syndrome Rett syndrome (RTT; Online Mendelian Inheritance in Man #312750; http://www.ncbi.nlm.nih.gov/omim/) was first recognized by Andreas Rett, a neurodevelopmental pediatrician in Vienna, more than fifty years ago when he observed two girls in his clinic simultaneously engaged in hand stereotypies [1, 2]. His attempts to raise awareness of this observation among physicians in Europe met with little success in creating interest in expanding understanding of this unique neurodevelopmental disorder. As it happened, most of his written efforts were in German and were not widely circulated beyond Austria. Bengt Hagberg, a Swedish child neurologist, had also identified young girls with virtually identical features, but unlike Rett, he did not report these observations or extend his information beyond Sweden. RettĄ¯s single major English publication appeared in the Handbook of Clinical Neurology in 1977 [3]. However, a series of extensive metabolic tests on blood and urine in his participants with this disorder had identified hyperammonemia, the subject of this Handbook volume. Fortunately, this finding turned out to be spurious. At a gathering of child neurologists in Europe near the end of the 1970s, Hagberg became aware of this change in the association of these clinical features and hyperammonemia, realized that they were observing the same disorder, and planned together with Jean Aicardi, Karin Dias, and Ovidio Ramos to publish their own combined experiences. Shortly thereafter in 1981, Hagberg had a chance meeting with Rett in Toronto and following this discussion elected to name the disorder Rett syndrome. At the time, RTT was scarcely known outside of Europe, but with the 1983
%U http://www.hindawi.com/journals/aneu/2014/345270/