Reference:
Abstract:
Introduction.ﾠRett syndrome (RTT) is a neurodevelopmental disorder, which is characterized by congenital variant early psychomotor retardation, hypotonia, abnormal EEG, typical absence of initial asymptomatic period.ﾠMaterials and methods.ﾠSample of 7 children with congenital variant of RTT afferite to “regional reference center of Rett Syndrome” Versilia Hospital and the University of Ferrara from 2006 to present.ﾠClinical data were collected and compiled the ‘”International Scoring System.”ﾠTo support the diagnosis, performed molecular analysis of the gene MECP2.ﾠIn 4 subjects performed the assessment of the autonomic nervous system with Neuroscope.ﾠResults.ﾠThe average age of the sample is 3 ? years.ﾠThe subjects are: normal head circumference at birth, followed by deceleration in most cases, non-specific developmental abnormalities early, severe cognitive impairment; stereotypes; auxological parameters above the 50th centile in 4 cases.ﾠThe electroencephalographic pattern in almost all show anomalies.ﾠThe degree of impairment is severe in 4 cases.ﾠThe phenotype cardiorespiratory most represented is “forced”.ﾠAll patients have mutations in MECP2.ﾠDiscussion.ﾠThe congenital variant was found in 5.8% of patients with RTT afferiti.ﾠA mutation of the MECP2 gene was identified in all cases.ﾠThis variant of RTT seems to be part of the classical form, but with earlier onset and more severe course.
PROJECT DETAILS
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Country of research: Italy
Counry of funding source: Italy
Funding organization: National Research Council
Financing: NATIONAL FUNDINGS – 0 €