Additional file 5: of Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies

Table S5. Molecular cytogenetic and phenotypic data of patients with likely pathogenic CNVs (50 patients). [del: deletion, dup: duplication, mat: maternal, pat: paternal, NA: not available, LB: likely benign, LP: likely pathogenic; ID: intellectual disability; ASD: autism spectrum disorder; ADHD: attention deficit hyperactivity disorder; NDD: neurodevelopmental disorders; CHD: congenital heart defect]. (XLS 90 kb

Additional file 2: of Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies

Table S2 Clinical and Phenotypic features of the analyzed sample (293 patients). Total number and percentage as compared to the number of patients for which the single data was available. [ADHD: attention deficit and hyperactivity disorder, ASD: atrial septal defect, CNS: central nervous system, IUGR: intrauterine growth retardation, PDA: patent ductus arteriosus, ToF: Tetralogy of Fallot, VSD: ventral septal defect]. (DOC 90 kb

Additional file 7: of Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies

Table S7. In silico analysis of single CNVs falling in gene-desert regions. Prediction of the influence of CNVs on topologically associating domains (TADs), discrete genomic regions characterized by a high frequency of self-interaction. The presence of noncoding, potentially regulatory elements and the possible positional effect of alterations are also considered. [lincRNA: long intergenic noncoding RNA; H3K27Ac, H3K4Me1: Histone 3 acetilation/methylation, may indicate active regulatory elements; a across TAD boundary; b within TAD]. (XLS 27 kb

Additional file 6: of Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies

Table S6. Correlations between clinical and phenotypic features and aCGH results (likely pathogenic VOUS vs likely benign VOUS + negative aCGH). Statistically significant results for likely pathogenic VOUS are reported in bold [n/N, number of cases with positive variable/number of patients with available data on that variable; NA: not applicable; ADHD: Attention deficit and hyperactivity disorder; ASD: atrial septal defect; CNS: central nervous system; CTG: fetal cardiotocography; IUGR: intrauterine growth restriction; PDA: patent ductus arteriosus; PFO: patent foramen ovale; ToF: Tetralogy of Fallot; VSD: interventricular septal defect]. (DOC 170 kb

Additional file 3: of Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies

Table S3. Correlations between clinical and phenotypic features and aCGH results (pathogenic CNVs vs VOUS). Statistically significant results for pathogenic CNVs are reported in bold and significant data for VOUS are reported in italics. [ADHD: Attention deficit and hyperactivity disorder; ASD: atrial septal defect; CNS: central nervous system; CTG: fetal cardiotocography; IUGR: intrauterine growth restriction; PDA: patent ductus arteriosus; PFO: patent foramen ovale; ToF: Tetralogy of Fallot; VSD: interventricular septal defect]. (DOC 163 kb

Additional file 4: of Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies

Table S4. Correlations between clinical and phenotypic features and aCGH results (pathogenic CNVs vs likely pathogenic CNVs vs likely benign CNVs). All statistically significant features are reported in bold. From post-hoc analysis with Bonferroni correction: *Significant in the comparison of pathogenic and likely benign; §Significant in the comparison of pathogenic and likely pathogenic; ¼Significant in the comparison of likely pathogenic and likely benign. [ADHD: Attention deficit and hyperactivity disorder; ASD: atrial septal defect; CNS: central nervous system; CTG: fetal cardiotocography; IUGR: intrauterine growth restriction; PDA: patent ductus arteriosus; PFO: patent foramen ovale; ToF: Tetralogy of Fallot; VSD: ventricular septal defect]. (DOC 194 kb

Additional file 8: of Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies

Table S8. Correlations between phenotypical core features and aCGH results (positive aCGH vs negative aCGH). Statistically significant results for negative aCGH are reported in bold; statistically significant results for positive aCGH are reported in bold and italic. [MCA: multiple congenital anomalies; NDD: neurodevelopmental disorders]. (DOC 49 kb

Evidence-based neonatal unit practices and determinants of Postnatal corticosteroid-use in preterm births below 30 weeks ga in Europe. A population-based cohort study

Background: Postnatal corticosteroids (PNC) were widely used to treat and prevent bronchopulmonary dysplasia in preterm infants until studies showed increased risk of cerebral palsy and neurodevelopmental impairment. We aimed to describe PNC use in Europe and evaluate the determinants of their use, including neonatal characteristics and adherence to evidencebased practices in neonatal intensive care units (NICUs). Methods: 3917/4096 (95,6%) infants born between 24 and 29 weeks gestational age in 19 regions of 11 European countries of the EPICE cohort we included. We examined neonatal characteristics associated with PNC use. The cohort was divided by tertiles of probability of PNC use determined by logistic regression analysis. We also evaluated the impact of the neonatal unit's reported adherence to European recommendations for respiratory management and a stated policy of reduced PNC use. Results: PNC were prescribed for 545/3917 (13.9%) infants (regional range 3.1-49.4%) and for 29.7% of infants in the highest risk tertile (regional range 5.4-72.4%). After adjustment, independent predictors of PNC use were a low gestational age, small for gestational age, male sex, mechanical ventilation, use of non-steroidal anti-inflammatory drugs to treat persistent ductus arteriosus and region. A stated NICU policy reduced PNC use (odds ratio 0.29 [95% CI 0.17; 0.50]). Conclusion: PNC are frequently used in Europe, but with wide regional variation that was unexplained by neonatal characteristics. Even for infants at highest risk for PNC use, some regions only rarely prescribed PNC. A stated policy of reduced PNC use was associated with observed practice and is recommended