Italy

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

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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

Study of the action of the complex moderating ENA / VASP on synaptic defect induced by mutation of MeCP2 in neurons obtained from mice and induced pluripotent stem cells (iPSCs) derived from patients.

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Reference: 1 Abstract: The central hypothesis that there is a tendency to evaluate this project is that the mechanisms that regulate actin polymerization-dependent proteins of the ENA / VASP are able to modulate the effects of the mutation of MeCP2. In the case of positive results, then you might investigate whether a similar phenomenon also … Read more

Training Course on-line

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Reference: 4 Abstract: Provide parents, therapists and teachers of different types and levels the theoretical and practical tools for working with girls with Rett syndrome and use Alternative communication systems in order to falicitarle in everyday interactions and communication of their needs and their needs. PROJECT DETAILS  beginning: 2012. end: 2013. Country of research: Italy … Read more

Sleep disorders in Rett syndrome: a clinical study – polysomnography.

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Reference: 11_ Vignoli Abstract: The girls with RS, in analogy to what happens in other conditions of neurological disability, frequently have sleep disorders, mainly investigated through the use of questionnaires, being affected by specific sleep abnormalities characterized by intrusion of behavioral episodes such as laughing or screaming, sonniloquio, sleepwalking, bruxism and night terrors. There are … Read more

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

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