Abstract Background: Nutritional habits are a useful way to characterize whole diets and they are also known to be influenced by a wide range of social and economic factors. The above factors in each country may have different effect on children's eating habits. In Lithuania the data of children nutrition in association with socio-economic status of family is poor. There are few studies done, where links between nutrition habits of children and socio-economic status of family was evaluated. The aim of this paper is to evaluate association among nutrition habits of first-formers and family socio-economic status in Lithuania. Methods: Data were obtained participating in the international study, which was performed in all ten districts of Lithuania. A cross-sectional study was carried out in 2010, using the protocol and methodology prepared by the experts from the WHO and countries participating in the Initiative. The data were collected by means of COSI standardized questionnaire, which was filled out by parents of selected first-formers'. In this paper a part of questions regarding children nutrition habits and parents' socio-economic status is presented. Statistical analysis was performed by using SPSS 20.0 software for Windows. Correlation among variables was evaluated by χ 2. Links among nutrition habits of first-formers and family socioeconomic status were determined using binary logistic regression to calculate odds ratios (OR) and 95% confidence intervals (CI). For all tests p < 0.05 was considered significant. Results: It was established that the majority (76%) of Lithuanian first-formers eat breakfast every day or 4-6 times a week. Significant differences were found between breakfast consumption and gender - girls eat breakfast less frequently than boys. Odds ratio of children daily breakfast consumption were 1.3 times higher in families where fathers' were older than 30 years comparing with younger fathers. Meanwhile mothers' age had significant influence just on children daily soft drinks with sugar consumption. Conclusions: Results from the national survey of primary school age children of Lithuania reveals that family socio-economic position plays one of the major role in breakfast, fresh fruit and soft drinks with sugar consumption among younger school age children.
BackgroundRubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant genetic disease, with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical facial features, microcephaly, broad thumbs and first toes, intellectual disability, and postnatal growth retardation. However, no standard diagnostic criteria are available for RSTS. In this review, we summarized the clinical features and genetic basis of RSTS and highlighted areas for future studies on an appropriate diagnostic protocol and follow-up care for RSTS.DiscussionRSTS is primarily characterized by delayed growth in height and weight, microcephaly, dysmorphic facial features, and broad thumbs and big toe. Over 90% RSTS individuals with disabilities survive to adulthood, but healthcare for these patients is particularly complex, time-consuming, and costly. In addition, no standard diagnostic criteria and follow-up care guidelines are available for RSTS. It has been shown that mutations in the genes encoding the cyclic-AMP-regulated enhancer binding protein (CREBBP) and the E1A-binding protein p300 (EP300) contributed to the development of RSTS. Therefore, genetic tests are useful for the diagnosis of RSTS, although most RSTS cases are currently diagnosed based on clinical features.SummaryThe clinical features of RSTS have been extensively studied, which significantly contributes to the diagnosis of this extremely rare syndrome. However, the pathogenesis and genotype-phenotype associations of RSTS are largely unknown. Therefore, multicenter studies and international cooperation are highlighted for better understanding of this disease, establishing standard diagnostic criteria, and providing professional management and follow-up care of RSTS.
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management
Esposito, Susanna Maria Roberta
2015
Abstract
BackgroundRubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant genetic disease, with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical facial features, microcephaly, broad thumbs and first toes, intellectual disability, and postnatal growth retardation. However, no standard diagnostic criteria are available for RSTS. In this review, we summarized the clinical features and genetic basis of RSTS and highlighted areas for future studies on an appropriate diagnostic protocol and follow-up care for RSTS.DiscussionRSTS is primarily characterized by delayed growth in height and weight, microcephaly, dysmorphic facial features, and broad thumbs and big toe. Over 90% RSTS individuals with disabilities survive to adulthood, but healthcare for these patients is particularly complex, time-consuming, and costly. In addition, no standard diagnostic criteria and follow-up care guidelines are available for RSTS. It has been shown that mutations in the genes encoding the cyclic-AMP-regulated enhancer binding protein (CREBBP) and the E1A-binding protein p300 (EP300) contributed to the development of RSTS. Therefore, genetic tests are useful for the diagnosis of RSTS, although most RSTS cases are currently diagnosed based on clinical features.SummaryThe clinical features of RSTS have been extensively studied, which significantly contributes to the diagnosis of this extremely rare syndrome. However, the pathogenesis and genotype-phenotype associations of RSTS are largely unknown. Therefore, multicenter studies and international cooperation are highlighted for better understanding of this disease, establishing standard diagnostic criteria, and providing professional management and follow-up care of RSTS.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
