Analysis of HLA genes to assess genetic susceptibility to vaccines as part of the pathogenesis of Rett syndrome.

Reference: 5 Abstract: The acute phase of regression (6-12 months) of Rett syndrome coincides with the period of childhood vaccinations. Data that come both from our own experience and from the literature indicate that different RTT girls were initially classified as suffering from encephalopathy for damage caused by the vaccine (Moeschler JB, et al, 1988) … Read more

Characterization of motor performance in patients with SR and evaluating the effectiveness of new tools orthotic

Reference: 8_ Dr.ᅠA.ᅠCosentino, Dr. B.ᅠMontagnana – Centre Don Calabria, Verona Abstract: This project aims initially to quantify and define the individual motor abnormalities, and then test the effectiveness of the proposed therapy. Specifically, this paper aims to differentiate and characterize the population instrumentally examined in terms of motor skills between subjects with residual powers to … Read more

Multifactorial analysis of the movement and the way in Rett syndrome

Reference: 4 Abstract: Rett syndrome (RTT) is a rare and complex factors for multiproblematicit? disabling. One of the main and most serious is the progressive loss of control of locomotor and gait, often affected by the presence of involuntary movements, dystonia, ataxia and spasticity. Only rarely treatment strategies used in the neuromotor pathologies infant may … Read more

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

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

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