Rett syndrome. History and general overview

Abstract

The syndrome under discussion probably has a much longer history than we know. The first description of 20 years ago noted only the similarities of behavior and neurological, psychological, and social symptoms of the affected patients. The publication by B Hagberg in the US drew world-wide attention to the syndrome. Since the development of the child proceeds unremarkably during the first year of life parents find it particularly difficult to understand and to cope with the subsequent arrest of motor, language and intellectual development. The present lack of a causally effective treatment does not relieve us from the task to do all we can to preserve existing capabilities and functions. Experience tells us that the gaze of the affected children, which seems very intense and is accompanied by hypomimia or amimia, is the focus of any possibility for social contact. Parents often report on their visual contact with the child which should spur greater efforts to work on that phenomenon.