Italy

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

Subclinical myocardial dysfunction in Rett syndrome

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Reference: Abstract: Aims Rett syndrome (RTT) is a rare neurodevelopmental disorder frequently linked to methyl-CpG-binding protein 2 (MeCP2) gene mutations. RTT is associated with a 300-fold increased risk of sudden cardiac death. Rhythm abnormalities and cardiac dysautonomia do not to fully account for cardiac mortality. Conversely, heart function in RTT has not been explored to … Read more

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