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Aim: To examine birth characteristics that influence infant respiratory syncytial virus (RSV) hospitalisation risk in order to identify risk factors for severe RSV infections. Methods: Retrospective cohort study of 460 771 Sicilian children under 6 months old from January 2007 to December 2017. Hospital discharge records were consulted to identify cases and hospitalisations with International Classification of Diseases, Ninth Revision, Clinical Modification codes 466.11 (RSV bronchiolitis), 480.1 (RSV pneumonia) and 079.6 (RSV). RSV hospitalisation risk was estimated using adjusted odds ratios (aOR) and 95% confidence intervals (95% CI). Results: Overall, 2420 (5.25 per 1000 infants) RSV‐related hospitalisations were identified during the study, with girls accounting for 52.8%. RSV hospitalisation risk increased for full‐term, transferred, extreme immature, and preterm neonates with serious issues (aOR 3.25, 95% CI 2.90–3.64; aOR 1.86, 95% CI 1.47–2.32; aOR 1.54, 95% CI 1.11–2.07; and aOR 1.48, 95% CI 1.14–1.90). Compared to children born in June, the risk of RSV hospitalisation was significantly higher in children born in January (aOR 28.09, 95% CI 17.68–48.24) and December (aOR 27.36, 95% CI 17.21–46.99). Conclusion: This study identified birth month and diagnosis‐related groups as key predictors of RSV hospitalisations. This could help manage monoclonal antibody appropriateness criteria. [ABSTRACT FROM AUTHOR]

This study was aimed to analyze the commonalities and distinctions of voltage‐gated sodium channels, Nav1.2, Nav1.6, in neurodevelopmental disorders. An observational study was performed including two patients with neurodevelopmental disorders. The demographic, electroclinical, genetic, and neuropsychological characteristics were analyzed and compared with each other and then with the subjects carrying the same genetic variants reported in the literature. The clinical features of one of them argued for autism spectrum disorder and developmental delay, the other for intellectual disability, diagnoses confirmed by the neuropsychological assessment. The first patient was a carrier of SCN2A (p.R379H) variant while the second was carrier of SCN8A (p.E936K) variant, both involving the pore loop of the two channels. The results of this study suggest that the neurodevelopmental disorders without overt epilepsy of both patients can be the consequences of loss of function of Nav1.2/Nav1.6 channels. Notably, the SCN2A variant, with an earlier expression timing in brain development, resulted in a more severe phenotype as autism spectrum disorder and developmental delay, while the SCN8A variant, with a later expression timing, resulted in a less severe phenotype as intellectual disability. [ABSTRACT FROM AUTHOR]

We describe an additional newborn with craniofacial dysmorphisms, congenital heart disease, hypotonia, and a 2q13 deletion of 1.7 Mb. The clinical and genomic findings observed are consistent with the diagnosis of 2q13 microdeletion syndrome. [ABSTRACT FROM AUTHOR]

The human chromosome 14q32 carries a cluster of imprinted genes which include the paternally expressed genes (PEGs) DLK1 and RTL1, as well as the maternally expressed genes (MEGs) MEG3, RTL1as, and MEG8. PEGs and MEGs expression at the 14q32.2-imprinted region are regulated by two differentially methylated regions (DMRs): the IG-DMR and the MEG3-DMR, which are respectively methylated on the paternal and unmethylated on the maternal chromosome 14 in most cells. Genetic and epigenetic abnormalities affecting these imprinted gene clusters result in two different phenotypes currently known as maternal upd(14) syndrome and paternal upd(14) syndrome. However, only few patients carrying a maternal deletion at the 14q32.2-imprinted critical region have been reported so far. Here we report on the first patient with a maternal de novo deletion of 160 kb at the 14q32.2 chromosome that does not involves the IG-DMR or the MEG3-DMR but elicits a full upd (14)pat syndrome's phenotype encompassing the three mentioned MEGs. By the analysis of this unique genotype-phenotype correlation, we further widen the spectrum of the congenital anomalies associated to this rare disorder and we propose that the paternally expressed imprinted RTL1 gene, as well as its maternally expressed RTL1as antisense transcript, may play a prominent causative role. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Gastroschisis is a full‐thickness congenital abdominal wall defect usually occurring to the right of the umbilicus. About twenty cases of left‐sided gastroschisis have been reported, without reference to the laterality of the umbilical vein. This first case highlights the importance of considering and reporting this association by the perinatal team. Gastroschisis is a full‐thickness congenital abdominal wall defect usually occurring to the right of the umbilicus. About twenty cases of left‐sided gastroschisis have been reported, without reference to the laterality of the umbilical vein. This first case highlights the importance of considering and reporting this association by the perinatal team. [ABSTRACT FROM AUTHOR]