Reference: 1 Abstract: Some studies have used the eye tracker technology in the SR for the observation of the power of choice and recognition of the concepts of color, shape, size and spatial orientation (Baptista et al., 2006; De Lima Velloso et al., 2009). Recent studies in patients with SR (Vignoli et al., 2010) have … Read more
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
Reference: 5_M.ﾠPintaudi, Abstract: Rett syndrome (SR) is a rare disease that affects about 1/10000-15000 girls. Although epilepsy is present in about 80% of these patients, clinical studies investigating the characteristics of the crisis and the use and effectiveness of anti-epileptic drugs are scarce. The study aims to: Clinical study of epilepsy in the SR, the … Read more
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
Reference: ANR-12n.a.003-BSV1 Abstract: The MeCP2-pathies represent a field of particularly dynamic and competitive research in the field of intellectual disabilities related to the X chromosomeﾠRett syndrome (RTT) is the prototype of these diseases and account for 10% of cases of mental retardation of genetic origin in women.ﾠThe causative gene is Mecp2 encoding a multifunctional protein … Read more
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