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Abstract Background Aim of this prospective study was to compare clinical and genetic findings in children with idiopathic or heritable pulmonary arterial hypertension (I/HPAH) with children affected with congenital heart defects associated PAH (CHD-APAH). Methods Prospectively included were 40 consecutive children with invasively diagnosed I/HPAH or CHD-APAH and 117 relatives. Assessment of family members, pedigree analysis and systematic screening for mutations in TGFß genes were performed. Results Five mutations in the bone morphogenetic protein type II receptor (BMPR2) gene, 2 Activin A receptor type II-like kinase-1 (ACVRL1) mutations and one Endoglin (ENG) mutation were found in the 29 I/HPAH children. Two mutations in BMPR2 and one mutation in ACVRL1 and ENG, respectively, are described for the first time. In the 11 children with CHD-APAH one BMPR2 gene mutation and one Endoglin gene mutation were found. Clinical assessment of relatives revealed familial aggregation of the disease in 6 children with PAH (HPAH) and one CHD-APAH patient. Patients with mutations had a significantly lower PVR. Conclusion Mutations in different TGFß genes occurred in 8/29 (27.6%) I/HPAH patients and in 2/11 (18.2%) CHD-APAH patients and may influence the clinical status of the disease. Therefore, genetic analysis in children with PAH, especially in those with I/HPAH, may be of clinical relevance and shows the complexity of the genetic background.

Background: Knowledge of the factors affecting the development of preterm children in Germany is limited. We analysed the prevalence of preterm birth in Germany using the German Health Interview and Examination Survey for Children and Adolescents 2003-2006 and assessed factors associated with quality of life (QOL) and behavioural development in preterm children (< 37 weeks' gestational age)., Methods: Data were weighted and preterm prevalence was calculated by socioeconomic status (SES) and year of birth for  1,106 preterm children. Using linear regression models, the relationship between sociodemographic, pre- and perinatal, lifestyle, and contextual determinants on the one hand, and the QOL (KINDL® parent questionnaire) and behavioural problems (the total problem behaviour scale, the Strengths and Difficulties Questionnaire [SDQ]) on the other was calculated., Results: Prevalence of preterm birth (mean 7.5 %) was higher in families with low compared with high SES (8.4 versus 7.0 %). In the final regression models, preterm children with high SES had higher QOL scores (+ 3.3 KINDL points, p = 0.024) compared with children with low SES, and adolescents (aged 14-17 years) had a higher QOL than children aged 7-13 years. All other variables (contextual, pre- and perinatal) were not related to QOL. In contrast, there were many determinants of behavioural development in preterms: the SDQ total score was lower in girls, children with older mothers, those from high SES and those with a high level of physical activity. However, both very low birth weight (< 1,500 g) and birth at > 34 weeks' gestation were associated with a higher SDQ total score., Conclusion: Given its high prevalence, preterm birth is a relevant public health issue in Germany. While SES may be the most important determinant of QOL in preterms, determinants of behavioural problems are the same as those in term children and also encompass perinatal factors.