Correlation between the clinical severity  and the type of mutation in Romanian  patients with Rett syndrome

Dumitriu Simona; Ageu Luminita; Gradinaru Raluca; Puiu Maria

Volume : II, Issue : XI, November - 2013

Correlation between the clinical severity and the type of mutation in Romanian patients with Rett syndrome

Dumitriu Simona, Ageu Luminita, Gradinaru Raluca, Puiu Maria

Abstract :

Since the discovery of mutations in the methyl–CpG binding protein–2 (MECP2) gene in Rett Syndrome (RTT), a large number of mutations have been identified both in the classical and the atypical forms of this disorder, their variability and correlation between phenotype and genotype being studied in different populations. In this study, by using a composite score including clinical, functional and anamnestic items, we analyzed the severity of the phenotype and the family impact of the mutations identified in the Romanian patients. The clinical severity and the impact on the functioning of patients and of their families have been assessed using Kerr profile scores1, Percy severity scores2 , Functional Independence Measure (WeeFIM)3 and PedsQLTM 2.0 Family impact module4 .