Italy

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

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

Rett syndrome: approach to nutrition and gastrointestinal disorders

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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

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

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