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Background: Respiratory Syncytial Virus (RSV) infection mainly affects newborns, infants and young children aged < 2 years. Since an RSV vaccine is in the European Medicines Agency's waitlist validation, nowadays the prevention only includes passive immunization with monoclonal antibodies (mAb). In the present study we aimed at investigating Italian paediatricians' knowledge, attitudes and behaviours towards RSV and its prevention. Methods: From February to May 2023, an anonymous online questionnaire, with answers based on the Likert scale, was administered to a sample of Italian paediatricians' members of the Italian Society of Paediatrics. Descriptive and inferential statistical analyses were performed using STATA 17. Results: The paediatricians who answered the questionnaire were 507, mostly women (70.6%), aged 30–45 (33.1%), employed in hospitals in 66.6% of cases. The 10.8% of respondents reported that RSV is transmitted only among children younger than 2 years of age and 80.33% of participants that school-age children are not at risk of developing severe forms of RSV disease. The 25% of participants thought that active immunization is currently available to prevent RSV infection and 35.7% that does not exist passive immunization to prevent RSV for infants and newborns aged < 2 years. The 97.5% of physicians managed bronchiolitis cases and 65.6% of participants did not prescribe the administration of mAb. Higher age, seniority and RSV knowledge score were found to be associated with having a higher mAb knowledge score (p < 0.001) and having a higher RSV knowledge was associated with a higher mAb knowledge score (p < 0.001). The logistic regression model found that the odds of a positive attitude towards mAB knowledge score increased by over 3 times (OR 3.23, 95% CI [1.41, 7.40], p = 0.006) for being female and the odds of a positive attitude towards mAB knowledge score increased by almost 10 times (OR 9.73, 95% CI [3.06, 30.89], p < 0.001) for a one-unit increase in RSV knowledge score. Conclusions: Paediatricians' limited knowledge or awareness could represent a barrier to the implementation of preventive strategies against RSV infection. Strategies to improve paediatricians' education on RSV prevention are, therefore, crucial. [ABSTRACT FROM AUTHOR]

Background: Mutations in lysyl-tRNA synthetase (KARS1), an enzyme that charges tRNA with the amino acid lysine in both the cytoplasm and mitochondria, have been associated thus far with autosomal recessive Charcot–Marie–Tooth type CMTRIB, hearing loss type DFNB89, and mitochondrial encephalohepatopathy (MEH) featuring neurodevelopmental disorders with microcephaly, white matter changes, and cardiac and hepatic failure in less than 30 patients. Case presentation: We report the clinical, biochemical and molecular findings of a 14-month-old girl with severe MEH compatible clinical features, profound sensorineural hearing loss, leopard spot retinopathy, pancytopenia, and advanced liver disease with portal hypertension leading to death at the age of 30 months. Conclusions: Whole exome sequencing identified two rare variants in KARS1 gene. Our report expands the allelic and clinical features of tRNA synthase disorders. Moreover, with our report we confirm the usefulness of WES as first tier diagnostic method in infants with complex multisystem phenotypes. [ABSTRACT FROM AUTHOR]

The aim of our study was to better define the clinical pattern of diencephalic syndrome, a rare but potentially lethal cause of failure to thrive in infancy. Poor weight gain or weight loss, the characteristic presenting feature, often firstly attributed to gastrointestinal or endocrinological or genetic diseases, is secondary to a malfunctioning hypothalamus, caused by a diencephalic tumor. Due to its unexpected clinical onset, diagnostic delay and misdiagnosis are common. We described a case series of 3 children with diencephalic syndrome admitted at our Hospital, over a 5-year period. Furthermore, a narrative review on all pediatric cases published in the last seventy years was performed. Clinical pattern, timing to diagnosis, neuroimaging, management, and outcome were analyzed. Our three cases are singularly described in all clinical and diagnostic findings. Overall, 100 children were selected; all these cases as well as our children presented with failure to thrive: 96% had body mass index or weight-length/height ratio lower than 5th percentile. Vomiting and hyperactivity are reported in 35 and 26% of cases, respectively. The neurological features, mainly nystagmus reported in 43%, may occur late in the disease course. In conclusion, the diagnostic delay is the hallmark of diencephalic syndrome, confirming the lack of knowledge by clinicians. The poor weight gain/loss despite adequate length growth and food intake, especially in children with hyperactivity and good psychomotor development, should alert pediatricians towards this condition, before neurological signs/symptoms occurrence. [ABSTRACT FROM AUTHOR]

The sample collection procedure for SARS-CoV-2 has a strong impact on diagnostic capability, contact tracing approach, ultimately affecting the infection containment performance. This study demonstrates that self-collected nasal-swab has shown to be a valid and well tolerated procedure to SARS-CoV-2 surveillance in a healthcare system. More significantly, no performance adequacy difference was detected in self-administered swabs between healthcare worker (HCW) and non-HCW which allows to speculate that this procedure could be successfully extended to the entire population for mass screening. [ABSTRACT FROM AUTHOR]

A practical guidance on the management of children with COVID-19 to insure homogeneous criteria for referral to a higher-level facility, according to the disease severity, is pivotal in the pandemic era. A panel of experts in pediatric infectious diseases and intensive care at the tertiary-care Meyer Children's University Hospital, Florence, Italy, issued a practical document shared with Tuscany hospitals. The rationale was to target the referral for those children at risk of requiring an intensive support, since the above mentioned hospital has the pediatric intensive care unit. Overall, 378 patients between 0 and 19 years of age were diagnosed with COVID-19 infection in the Tuscany region with 24 (6.3%) hospitalizations. Only three children were centralized to Meyer Children's University Hospital according to reported criteria. Considering that appropriate referral criteria have been associated with reduced mortality in other conditions, our document might be useful to improve outcomes of children with COVID-19. [ABSTRACT FROM AUTHOR]

We describe a 14-month-old boy, with a previous diagnosis of propionic acidemia (PA) by expanded newborn screening, who, admitted for a suspected metabolic crisis, tested positive for SARS-CoV-2. Since propionic acidemia was diagnosed, the patient has followed the recommended diet for this inborn error of metabolism. Although propionic acidemia patients are at a high risk of suffering metabolic crises, frequently associated with permanent clinical complications, psychomotor development of this patient was normal. The SARS-CoV-2 infection (at about 1 year of age) caused the patient's first metabolic crisis. However, his clinical course was in keeping with a mild clinical form of COVID-19, and he recovered without experiencing severe clinical consequences. We describe this patient in order to improve the knowledge about follow up of PA patients identified by newborn screening and to increase the limited number of reports of SARS-CoV-2 infection in children with comorbidities, especially inborn errors of metabolism. [ABSTRACT FROM AUTHOR]