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

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

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

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

Rett syndrome: approach to nutrition and gastrointestinal disorders

Reference: 4_ᅠDr. V.ᅠCarmine Abstract: The nutritional problems in the context of complex neurological conditions, involving different aspects, behavioral and neurological dysfunctions oromotorie closely. These include oropharyngeal dysfunction, sensory deficits, reduced mobility of the tongue, difficulty in chewing and swallowing food, in fact a reduced tone of the muscles of the head and neck may cause … Read more

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