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  • Author: Simona Maria Stănescu x
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Abstract

The article intends to be a screening of family benefits in the 28 Member States of the European Union (EU) and to contribute to the research of shared trends with respect to family approach in these countries. Four types of family benefits including eight distinctive categories are analysed: child-benefit, child care allowances, child-raising allowances, and other benefits (birth and adoption grants, allowance for single parents, special allowances for children with disabilities, advance payments for maintenance and other allowances). The paper is based on primary and secondary analysis of 28 sets of national data provided through the European Union's Mutual Information System on Social Protection (MISSOC). Three categories of member states are considered: founder member states of the EU, other “old” member states, and the new Central and Eastern ones. Chronological development of national regulations with impact on family benefits is analysed in connection with the moment of becoming a member state. Various forms of family benefits legislation and their main subjects of interest are further researched. The last part of the article looks at the coverage of family benefits. Seven member states operate in this respect based on regulations adopted before EU accession. Belgium, Finland, and Lithuania have the “most preserved” family regulations per category of member states. The first three topics of family regulations are: child, family, and allowance / benefit. The most frequently provided family benefits are: birth and adoption grants, and special allowance for children with disabilities. All eight family benefits are provided in France, Finland, Hungary, and Slovenia. Only two types of family benefits are available in Ireland, Spain, and Cyprus.

Abstract

The discovery of the methyl-CpG binding protein 2 (MECP2) gene located on Xq28 as being involved in Rett syndrome (RTT) has been followed by a broad spectrum of phenotypes being associated with mutations in MECP2. The distribution of MECP2 mutations has been studied in many populations, but only recently in Romania. We started the first local study searching for MECP2 mutations using PCR (polymerase chain reaction) - based methods and Sanger sequencing. We have investigated 9 patients, all girls, 7 with classical RTT and 2 with atypical RTT from the Western part of Romania. Mutation screening revealed 3 different mutations present in 4 patients and 5 nonpathogenic genetic variations. One of the frameshift mutations has not been previously described: c.225delG (p.P75fs). The detection rate for missense and frameshift mutations was 44 %. In this study we focused on a practical approach necessary for the molecular geneticist in the process of screening RTT patients for MECP2 mutations. The aim is to extend this protocol for screening MECP2 mutations in all cases of MECP2-related Disorders, to offer prenatal diagnosis, and subsequently complete it with techniques which can detect large rearrangements of this gene.