2008.

Taking charge of rehabilitation in the SR and the first case of targeted rehabilitation project evaluation, follow-up and training

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Reference: 10_Dr.ﾠM.ﾠRodocanachi – Medical Rehabilitation Centre responsible Istituto Don Calabria, Milan Abstract: In recent years, the advancement of Medical management in Rett syndrome has been important, especially in the form of day hospital admissions or shorter in some pediatric hospitals where the girls / girls were able to enjoy an adequate framework (growth and nutrition, … Read more

Study of the genetic differences between the classical form and the variant to preserved language of Rett Syndrome

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Reference: 1_Renieri Abstract: The preserved speech variant (Preserved Speech Variant, PSV) of Rett syndrome is characterized by a more favorable clinical course than the classical form (Zappella 1992). During the third stage, the PSV patients recover previously lost some skills: begin communicating with short sentences usually in the third person and observe an improvement in … Read more

Characterization of genetic and epigenetic mechanisms that are causative elements and / or amending the SR

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Reference: 2_Dr. S. Russian – Laboratory of Medical Genetics Institute Auxologico Milan Abstract: At the laboratories of the Institute of Molecular Genetics Auxologico Italian since 2001 is carried out diagnostics and research on Rett Syndrome. Over the years we have collected a series of 97 patients with a genetic defect known and many without defined … Read more

Construction of a notebook for multimedia communication in Rett syndrome

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Reference: 6_Prof.ﾠRA Fabio Abstract: The overall aim of the work is to build a multimedia notebook to help girls with Rett syndrome to follow a path that leads to alternative augmentative communication and the expression of individual needs. In this work we built two versions of the CAA, the first use of a structure with … Read more

Protocol for Rett Syndrome adolescence into adulthood

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Reference: 3_Dr. Vignoli, Dr. La Briola Abstract: Knowledge in the medical field of psycho-physical condition of people with Rett syndrome in adulthood is still very poor. A good knowledge of medical issues, typical of adulthood in these girls and the possibility of preventing them, are key to the “loading” of patients and their families. Objectives … Read more

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