12 research outputs found

    FRA2A is a CGG repeat expansion associated with silencing of AFF3

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    Folate-sensitive fragile sites (FSFS) are a rare cytogenetically visible subset of dynamic mutations. Of the eight molecularly characterized FSFS, four are associated with intellectual disability (ID). Cytogenetic expression results from CGG tri-nucleotide-repeat expansion mutation associated with local CpG hypermethylation and transcriptional silencing. The best studied is the FRAXA site in the FMR1 gene, where large expansions cause fragile X syndrome, the most common inherited ID syndrome. Here we studied three families with FRA2A expression at 2q11 associated with a wide spectrum of neurodevelopmental phenotypes. We identified a polymorphic CGG repeat in a conserved, brain-active alternative promoter of the AFF3 gene, an autosomal homolog of the X-linked AFF2/FMR2 gene: Expansion of the AFF2 CGG repeat causes FRAXE ID. We found that FRA2A-expressing individuals have mosaic expansions of the AFF3 CGG repeat in the range of several hundred repeat units. Moreover, bisulfite sequencing and pyrosequencing both suggest AFF3 promoter hypermethylation. cSNP-analysis demonstrates monoallelic expression of the AFF3 gene in FRA2A carriers thus predicting that FRA2A expression results in functional haploinsufficiency for AFF3 at least in a subset of tissues. By whole-mount in situ hybridization the mouse AFF3 ortholog shows strong regional expression in the developing brain, somites and limb buds in 9.5-12.5dpc mouse embryos. Our data suggest that there may be an association between FRA2A and a delay in the acquisition of motor and language skills in the families studied here. However, additional cases are required to firmly establish a causal relationship

    Teacher participation in decision making and its impact on school and teachers

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    Purpose: The purpose of this paper is to examine teacher involvement in different domains of decision making in Greek primary schools and explore associations with school and teacher variables. Design/methodology/approach: A survey employing self-administered questionnaires, with a Likert-type scale assessing teachers' actual and desired participation in three domains of decision making, was used. Scales measuring perceived school climate, self-efficacy and job satisfaction were also included. Data were collected from 143 teachers working in primary schools located in different areas in Greece. Findings: The multidimensional approach to measuring teacher participation in decision making revealed quite high actual participation in decisions concerning students' and teachers' issues, but low levels of participation in managerial decisions. The discrepancy between the actual and desired levels of participation showed significant deprivation across all decision-making domains. Greater participation in decisions concerning teacher issues and lower levels of deprivation of participating in managerial issues were associated with teachers' perceptions of better leadership and higher collegiality in schools. The strongest predictor of both teachers' sense of efficacy and job satisfaction was their participation in decisions concerning teacher issues. Practical implications: Educational leaders should promote forms of participation in decision making that increase teachers' actual involvement in decisions concerning their duties and opportunities for development and also provide for more sharing on issues concerning the school management, particularly for women. Originality/value: The study underlines the value of dimensionality in investigating decision making in schools. © Emerald Group Publishing Limited

    School leadership and teachers' attitudes towards school change: The case of high schools in Greece

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    The Principal's role as facilitator of school change as well as school climate and teachers' previous experience of school changes on teachers' attitudes towards change were investigated. Participants in this study were 318 high school teachers working in urban and rural areas all over Greece. Measurement instruments included: a) the Principals' Change Facilitator Style Questionnaire (Hall & George, 1999), b) a scale based on the 18 items of the Attitudes Towards Change Inventory by Dunham, et al.(1989) and 13 items from the Multidimensional Response to Planned Change (Szabla, 2007) together with three subscales concerning the cognitive, behavioral and affective attitudinal components, following factor analysis, c) a 29-items questionnaire assessing the school climate for change and innovation and d)a scale assessing 9 different emotions resulting from past experiences of school changes. Perceptions of the principal as 'responder' to change (low level of facilitation) were held by 33% of the teachers and were associated with less positive attitudes towards school change. Half of the teachers perceived their principal as 'manager' of change (medium level of facilitation) and only 17% as 'initiator'. All three components of teachers' attitudes towards change were significantly correlated with the perceived degree of school change facilitation by the school leader. Hierarchical regression showed that negative emotions resulting from previous experience of changes in school had a negative effect on teachers' attitudes, after controlling for the effect of leadership style. © Common Ground, Jasmin-Olga Sarafidou, Dimitrios I. Nikolaidis

    The subtle-blatant distinction of ethnic prejudice among ethnic majority chidren

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    Research on ethnic prejudice among children is important for contemporary multicultural schools seeking to enhance communication among students from different ethnic groups and provide effective intercultural education. Current scientific discourse points to the appearance of new implicit forms of prejudice, witnessed in modern multicultural societies, while traditional explicit prejudice tends to decline. However, empirical studies concerning the blatant-subtle distinction of prejudice in children are scarce. This paper examines ethnic prejudice in 329 ethnic majority preadolescents (aged 10-13 years) attending 10 urban and rural schools in central Greece. Data were collected using questionnaires constructed on the basis of focus group discussions with children, in addition to sociometric tests. Findings support the subtle-blatant distinction of prejudice in children and indicate that although blatant prejudice expressed as personal rejection is indeed low, perceptions of ethnic minority groups as a 'problem' for school life, as well as subtle prejudice, are substantial. Ethnic minority children are less popular and stigmatizing behaviour is common. Intimacy with an ethnic minority classmate is associated with lower levels of blatant prejudice at the individual level but the other forms of prejudice are not affected. © 2013 Taylor & Francis

    Recognitive justice and educational inequalities: An intersectional approach involving secondary grade school students in Greece

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    Adopting the theoretical approach of recognitive justice and the degree of students’ recog-nitive experiences regarding empathy, respect, and social esteem, the present study focused on educational inequalities in the multicultural school and the factors that affect their appearance and reproduction. We examined the existence of social relations’ differences in a sample of 1303 students from 69 secondary schools in Greece, using a questionnaire constructed to investigate students’ recog-nitive experience of their relationships with teachers. By applying an intersectional approach, mainly through multiple regression analysis and multivariate interaction tests with MANOVA, we were able to identify that migrant students and students from families with a low educational level experienced a significantly lower degree of recognition, mainly with the forms of respect and social esteem, both in their relationships with teachers and with peers. Additionally, levels of recognition among teachers explained the large amount of variability in academic achievement and self-esteem, while higher levels of recognition among peers were a significant predictor of the respective students’ higher self-esteem. These deficits in recognition concern pedagogical practices that deprive these groups of students of opportunities and possibilities for equal participation in teaching and school life. © 2021 by the authors. Licensee MDPI, Basel, Switzerland

    Cognitive development of 12 month old Greek infants conceived after ICSI and the effects of the method on their parents

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    BACKGROUND: ICSI is widely used as a method of assisted reproduction in Greece. Research shows that children conceived after the application of ICSI develop normally. However, Bowen et al. (1998) reported that children conceived after ICSI had lower scores in the Mental Development Index (MDI) of the Bayley Scales of Infant Development compared with infants conceived naturally or by standard IVF treatment. This finding raised concerns about the effects of ICSI on infants’ cognitive development. The aim of the present study was twofold. First to compare the cognitive development of Greek infants conceived after ICSI treatment to a control group of infants conceived after IVF treatment and to a further control group conceived naturally (NC). Second, to investigate the psychological effects of ICSI compared to IVF on Greek parents. METHODS: The Bayley Scales of Infant Development were employed to assess cognitive development of infants. A 37 item semi-structured interview was devised to obtain demographic information and to assess and compare the psychological effects of ICSI and IVF on parents. RESULTS: The mental development of infants in all three groups was within the normal range (ICSI 101.4, IVF 95.7, NC 98.9). The differences between the three groups were not statistically significant. The duration of pregnancy and the birthweight differed in the three groups. Furthermore, mothers in the IVF and the ICSI groups experienced anxiety during pregnancy. IVF mothers differed in the mode of delivery and a smaller number of these mothers breastfed their infants. CONCLUSIONS: This study has shown that Greek infants, born after the application of ICSI, have mental and motor scores within the normal range. With regard to the psychological effects, it appears that mothers in the ICSI and IVF groups experience greater anxiety during their pregnancies than those in the NC group
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