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Aim: This review aimed to provide a comprehensive overview of the psychosocial developmental trajectory of various diseases during childhood and adolescence., Methods: Studies of Dutch young adults aged 18-35 years, who had grown up with a chronic disease, were included if the Course of Life Questionnaire had been used to assess psychosocial developmental milestones in three domains: social, autonomy and psychosexual. Differences between the disease groups and the general population were presented as Cohen's d and odds ratios., Results: We included 17 studies comprising 1899 young adults, who had grown up with 18 different paediatric diseases. Psychosocial development was delayed in all three questionnaire domains. Remarkable findings with regard to specific milestones were as follows: less participation in sports clubs in the social domain, less likely to have had paid jobs in the autonomy domain and later sexual intimacy in the psychosexual domain. End-stage renal disease, galactosaemia (males), childhood cancer and orthotopic liver transplants were the most affected disease groups., Conclusion: Children and adolescents with chronic diseases risked delays in psychosocial development. This should be addressed by healthcare providers, along with the physical aspects of diseases, and they should focus on the optimal psychosocial development of the patient., (©2019 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.)

Aim: We studied the accuracy of a screening checklist (SPUTOVAMO), complete physical examination (top-to-toe inspection, TTI) and their combination in detecting child abuse in the emergency department (ED)., Methods: Consecutive patients admitted to the ED of the Academic Medical Center in Amsterdam between January 2011 and 1 July 2013 were included. An Expert Panel assigned a consensus diagnosis to positive cases. For all other and missed cases, the Child Abuse Counselling and Reporting Centre diagnosis was used., Results: We included 17 229 admissions of 12 198 patients. In 46%, SPUTOVAMO was performed, in 33% TTI; 421 children (4.3%) tested positive on either or both, with 68 positive consensus diagnoses. In eight children not reported to the Expert Panel, the Child Abuse Counselling and Reporting Center diagnosis was positive. Ten of 3519 (0.3%) children testing negative on both were child abuse cases; 0.88% of the study group had a final child abuse diagnosis. The estimated PPV was 0.46 for SPUTOVAMO, 0.44 for TTI and 0.43 for the combination., Conclusion: Combining screening tests significantly increased the number of test positives and led to more child abuse cases detected. Combined screening for child abuse in all children less than 18 years old presenting to an ED is recommended., (©2018 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.)

The natriuretic peptide signaling pathway has been implicated in many cellular processes, including endochondral ossification and bone growth. More precisely, different mutations in the NPR-B receptor and the CNP ligand have been identified in individuals with either short or tall stature. In this study we show that the NPR-C receptor (encoded by NPR3) is also important for the regulation of linear bone growth. We report four individuals, originating from three different families, with a phenotype characterized by tall stature, long digits, and extra epiphyses in the hands and feet. In addition, aortic dilatation was observed in two of these families. In each affected individual, we identified a bi-allelic loss-of-function mutation in NPR3. The missense mutations (c.442T>C [p.Ser148Pro] and c.1088A>T [p.Asp363Val]) resulted in intracellular retention of the NPR-C receptor and absent localization on the plasma membrane, whereas the nonsense mutation (c.1524delC [p.Tyr508 ∗ ]) resulted in nonsense-mediated mRNA decay. Biochemical analysis of plasma from two affected and unrelated individuals revealed a reduced NTproNP/NP ratio for all ligands and also high cGMP levels. These data strongly suggest a reduced clearance of natriuretic peptides by the defective NPR-C receptor and consequently increased activity of the NPR-A/B receptors. In conclusion, this study demonstrates that loss-of-function mutations in NPR3 result in increased NPR-A/B signaling activity and cause a phenotype marked by enhanced bone growth and cardiovascular abnormalities., (Copyright © 2018 American Society of Human Genetics. All rights reserved.)

Aim: This study described cases of child abuse and neglect (CAN) that were reported to the multiagency CAN team at the Emma Children's Hospital in Amsterdam and the resulting interventions., Methods: We carried out a retrospective review of all cases that were reported to the CAN team from 1 January 2010 to 31 December 2012., Results: There were 27 prenatal cases, 92 referrals based on parental characteristics and 523 children. Overall, 1.2% of the children visiting the emergency department of our hospital, attending the outpatients department or being admitted were reported to the team. More than half of the referrals (55.1%) were confirmed as CAN. The most common diagnoses were as follows: witnessing intimate partner violence, physical neglect and emotional abuse. If CAN was confirmed an intervention was offered in 98.3% of cases. If a CAN diagnosis was undetermined or rejected, the figures were still 83.5% and 64.2%, respectively., Conclusion: Our results showed that CAN affected more than one in every 100 children visiting our hospital, and the expertise of our hospital-based CAN Team led to an intervention in the majority of the reported cases. The broad scope of problems that were encountered underlined the importance of a multidisciplinary CAN team., (©2016 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.)