Rett syndrome

This volume provides a detailed survey of the clinical development of Rett syndrome from its earliest manifestations in childhood through to adulthood in 130 Swedish females. The volume surveys the developmental profile of the disease, its characteristic cluster of symptoms and signs, and categorises the four main clinical stages in the development of motor disability. Particular emphasis is given to Rett syndrome variants and other clinical conditions which manifest themselves in a similar way to Rett syndrome. The development of scoliosis with age and disease stage is analysed. The neurophysiologic, neuropathologic and neurochemical characteristics are also examined. In addition, the volume looks at the molecular genetics of the syndrome. The final two chapters cover drug treatment and look ahead at future developments in the study of Rett syndrome.