Changes in clinical, demographic, and outcome patterns of children hospitalized with non-SARS-CoV-2 viral low respiratory tract infections before and during the COVID pandemic in Rome, Italy.

INTRODUCTION: We performed this study aiming to evaluate changes in epidemiology, clinical presentation and outcomes of children hospitalized for viral lower respiratory tract infections (LRTI). METHODS: We performed a retrospective study of children younger than 18 years of age hospitalized for LRTIs with a positive respiratory viral testing from 2018 to 2022. We compared need of pediatric intensive care unit (PICU), invasive ventilation, and other respiratory support, viral etiologies, clinical presentations, imaging, and laboratory results in the precovid (2018-2019) and covid (2020-2022) period. RESULTS: A total of 523 were included in the analysis. In the pandemic period, the detection of influenza was 95% less likely to occur (odds ratio [OR]: 0.05; 95% confidence interval [95% CI]: 0.02-0.12; p < .001), likewise the detection of adenovirus was 77% less likely to occur (OR: 0.23; 95% CI: 0.10-0.51; p < .001). In the pandemic period, the number of codetections increased from 15.52% in 2018 to 57.25% in 2022, resulting in a significantly increasing trend (p < .001). The odds of transfer to PICU was more than five times greater during the pandemic period (OR: 5.31; 95% CI: 1.78-15.86; p = .003). CONCLUSIONS: We found that the pattern of LRTI in children during COVID-19 pandemic significantly changed in terms of etiologies and increased severity.

Validation and cross-cultural adaptation of the Italian version of the paediatric eating assessment tool (I-PEDI-EAT-10) in genetic syndromes.

BACKGROUND: The Pediatric Eating Assessment Tool (PEDI-EAT-10) is a reliable and valid tool for rapid identification of dysphagia in patients aged 18 months to 18 years. AIMS: To translate and adapt the PEDI-EAT-10 into the Italian language and evaluate its validity and reliability. METHODS & PROCEDURES: The translation and cross-cultural adaptation of the tool consisted of five stages: initial translation, synthesis of the translations, back translation, expert committee evaluation and test of the prefinal version. The internal consistency of the translated tool was analysed in a clinical group composed of 200 patients with special healthcare needs aged between 18 months and 18 years. They were consecutively enrolled at the Rare Disease Unit, Paediatrics Department, Fondazione Policlinico Agostino Gemelli-IRCCS, Rome. For test-retest reliability, 50 caregivers filled in the PEDI-EAT-10 questionnaire for a second time after a 2-week period. Construct validity was established by comparing data obtained from patients with data from healthy participants (n = 200). The study was approved by the local ethics committee. OUTCOMES & RESULTS: Psychometric data obtained from patients (104 M; mean age = 8.08 ± 4.85 years; median age = 7 years) showed satisfactory internal consistency (Cronbach's α = 0.89) and test-retest reliability (Pearson r = 0.99; Spearman r = 0.96). A total of 30% of children were classified as having a high risk of penetration/aspiration. The Italian PEDI-EAT-10 mean total score of the clinical group was significantly different from that resulting from healthy participants. CONCLUSIONS & IMPLICATIONS: The PEDI-EAT-10 was successfully translated into Italian, validated and found to be a reliable one-page rapid screening tool to identify dysphagia in children and adolescents with special needs. WHAT THIS PAPER ADDS: What is already known on the subject The PEDI-EAT-10 is a valid and reliable quick discriminative paediatric tool for identifying penetration/aspiration risks. What this paper adds to the existing knowledge In the present study we successfully translated and adapted the PEDI-EAT-10 into the Italian language. What are the potential or actual clinical implications of this work? This translation and adaptation increase access to valid feeding and swallowing assessment for children of Italian-speaking families. In addition, the I-PEDI-EAT-10 can suggest further assessment of patients' swallowing abilities.

From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome.

CTNNB1 syndrome is an autosomal-dominant neurodevelopmental disorder featuring developmental delay; intellectual disability; behavioral disturbances; movement disorders; visual defects; and subtle facial features caused by de novo loss-of-function variants in the CTNNB1 gene. Due to paucity of data, this study intends to describe feeding issues and oral-motor dyspraxia in an unselected cohort of 10 patients with a confirmed molecular diagnosis. Pathogenic variants along with key information regarding oral-motor features were collected. Sialorrhea was quantified using the Drooling Quotient 5. Feeding abilities were screened using the Italian version of the Montreal Children's Hospital Feeding Scale (I-MCH-FS). Mild-to-severe coordination difficulties in single or in a sequence of movements involving the endo-oral and peri-oral muscles were noticed across the entire cohort. Mild-to-profuse drooling was a commonly complained-about issue by 30% of parents. The mean total I-MCH-FS t-score equivalent was 43.1 ± 7.5. These findings contribute to the understanding of the CTNNB1 syndrome highlighting the oral motor phenotype, and correlating specific gene variants with clinical characteristics.

Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review.

Background: Smith-Magenis syndrome (SMS) is caused by either interstitial deletions in the 17p11.2 region or pathogenic variants in the RAI1 gene and is marked by a distinct set of physical, developmental, neurological, and behavioral features. Hypercholesterolemia has been described in SMS, and obesity is also commonly found. Aim: To describe and characterize the metabolic phenotype of a cohort of SMS patients with an age range of 2.9-32.4 years and to evaluate any correlations between their body mass index and serum lipids, glycated hemoglobin (HbA1c), and basal insulin levels. Results: Seven/thirty-five patients had high values of both total cholesterol and low-density lipoprotein cholesterol; 3/35 had high values of triglycerides; none of the patients with RAI1 variants presented dyslipidemia. No patients had abnormal fasting glucose levels. Three/thirty-five patients had HbA1c in the prediabetes range. Ten/twenty-two patients with 17p11.2 deletion and 2/3 with RAI1 variants had increased insulin basal levels. Three/twenty-three patients with the 17p11.2 deletion had prediabetes. Conclusion: Our investigation suggests that SMS 'deleted' patients may show a dyslipidemic pattern, while SMS 'mutated' patients are more likely to develop early-onset obesity along with hyperinsulinism.

The "FEEDS (FEeding Eating Deglutition Skills)" over Time Study in Cardiofaciocutaneous Syndrome.

Feeding, eating and deglutition difficulties are key concerns in patients with cardiofaciocutaneous syndrome (CFCS). This study intends to quantify the development of feeding skills from birth to adulthood in patients with CFCS. Twenty-seven patients (eight males; mean age: 16.7 ± 8.3 years; median age: 15 years, age range: 1.5-38 years) with molecularly confirmed clinical diagnosis of CFCS were prospectively recruited from the Rare Disease Unit, Paediatrics Department, Fondazione Policlinico Agostino Gemelli-IRCCS, Rome, Italy, over a one-year period. Pathogenic variants along with key information regarding oro-motor features were collected. Sialorrhea was quantified using the Drooling Quotient 5. Feeding abilities were screened using the Italian version of the Montreal Children's Hospital Feeding Scale (I-MCH-FS). The oral sensory processing section of the Sensory Profile completed the assessment. Mild-to-profuse drooling was experienced by 25% of patients, and food taste selectivity was a constant during infancy (65%), with persistence even beyond adolescence. Nineteen percent of participants with long-term enteral feeding dependency had BRAF, KRAS and MAP2K1 mutations. These findings document that mealtime challenges in CFCS do not remain restricted only to the paediatric age, and that supportive care until adulthood plays a key role.

Acrodermatitis enteropathica during parenteral nutrition: a pediatric case report.

Background and aim Acrodermatitis enteropathica is a rare disorder characterized by the triad composed by dermatitis, alopecia and diarrhoea. Its acquired form can be caused by inadequate zinc intake, malabsorptive processes, excessive renal or intestinal loss. A rare cause of acquired zinc deficiency is iatrogenic nutritional deficiency due to parenteral nutrition. The diagnosis can be really difficult because the early clinical signs are non-specific and patient's eventual comorbidities can often mask symptoms. Methods: A 5-years-old child affected by several comorbidities, consequent to C. Koseri meningo-encephalitis occurred in the neonatal period, was admitted to Pediatric ward for acute pancreatitis and  had been fed via total parenteral nutrition for one month. Symptoms started approximately 15 days after the start of a  standardized parenteral nutrition mixture. The child presented with diarrhoea, alopecia and erythematous bullous skin lesions, distributed predominantly in acral and periorificial sites and not responsive to topical treatments. Zinc serum dosage were very low (10 µg/dL, with normal values 68-107 µg/dL). Clinical improvement was very fast after oral zinc supplementation (5mg/daily), with a rapid regularisation in the intestinal habits and re-epithelialization of the skin lesions. Results and Conclusions: Trace elements are an essential component of parenteral nutrition. The supplementation of trace elements is an important part of the parenteral nutrition prescription. Even few days of zinc shortage, especially in frail patients, may cause a severe dermatitis that can be easily prevented. Despite its rarity, acrodermatitis enteropathica should be strongly considered in the differential diagnosis of skin lesions for these patients.

Gastroenteritis is Less Severe But is More Often Associated With Systemic Inflammation in SARS-CoV-2-positive Than in SARS-CoV-2-Negative Children.

This study aims to characterize the clinical and metabolic features of acute gastroenteritis in children with and without severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). A multicenter case-control study was conducted in 2022 including 200 children. Clinical data and laboratory tests were analyzed. Children with SARS-CoV-2 presented less frequently hyponatremia and metabolic acidosis, but more often systemic inflammation as compared with children without SARS-CoV-2.

2021/22 and 2022/23 Post-Pandemic Bronchiolitis Seasons in Two Major Italian Cities: A Prospective Study.

Objectives: Bronchiolitis remains a major cause of morbidity and mortality in children under 24 months. During the first year of the pandemic, non-pharmacological interventions resulted in a significant reduction of bronchiolitis cases. Early in 2021, a rebound of bronchiolitis was reported with a description of out-of-season outbreaks. In this study, we prospectively evaluated the impact of bronchiolitis in two Italian University centers located in different geographical areas, aiming to compare two post-pandemic bronchiolitis seasons (2021/22 and 2022/23) in terms of severity, outcomes, microbiology and temporal distribution. Methods: This was a bicentric prospective observational cohort study. All consecutive children under 24 months of age assessed in the participating institutions during the specified seasons and receiving a clinical diagnosis of bronchiolitis were included. Results: A total of 900 patients were enrolled. Patients in the second season were globally younger and had comorbidities less often. Temporal distribution changed between the two seasons. Of the patients, 56% were tested for RSV; 60% of these was positive. Patients with RSV were globally younger (3.5 months vs. 4.9, p < 0.001), more often had a need for any kind of respiratory and fluid support and more often needed ward or PICU admission. At the end of the ED visit, 430 patients were discharged home, 372 (41.3%) were admitted to an inpatient ward and 46 (5.1%) to a pediatric intensive care unit. Conclusions: The 2022/23 post-COVID bronchiolitis was mostly similar to that of 2021/22, and was in line with pre-pandemic expectations.

Cross-cultural adaptation and validation of the Italian version of the Montreal Children's Hospital Feeding Scale in a special healthcare needs population.

BACKGROUND: The Montreal Children's Hospital Feeding Scale (MCH-FS) allows paediatricians and other health care professionals to identify feeding difficulties among children. AIM: To translate and adapt the MCH-FS into Italian, and to evaluate the validity and reliability of this Italian version of the Montreal Children's Hospital Feeding Scale (I-MCH-FS). METHODS & PROCEDURES: A total of 150 children with special healthcare needs were admitted to the Rare Disease Unit of the Paediatrics Department at the Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy, between March 2021 and March 2022 (74 males; mean age = 3.85 ± 1.96 years; median age = 4 years; age range = 6 months-6 years and 11 months) and 150 healthy participants (83 males; mean age = 3.5 ± 1.98 years; median age = 3 years; age range = 6 months-6 years and 11 months) were included in the study, which was approved by the local ethics committee. The original version of the MCH-FS was translated and cross-cultural adapted through five stages: (1) initial translation, (2) synthesis of the translations, (3) back translation, (4) expert committee and (5) test of the prefinal version. Test-retest reliability and internal consistency were assessed using Pearson r, Spearman r and Cronbach's alpha, respectively. Construct validity was established by comparing data obtained from patients with those of healthy participants using the Mann-Whitney U-test. OUTCOMES & RESULTS: A Pearson r of 0.98, a Spearman r of 0.95 and Cronbach's alpha value of 0.86 were obtained. In the clinical group, 40.6% children were classified as having feeding disorders (n = 61), while in the normative group 4.7% were diagnosed with feeding problems (n = 7). Mean total score of the clinical group was significatively different from the normative's. CONCLUSIONS & IMPLICATIONS: The I-MCH-FS is a valid and reliable one-page, quick screening tool used to identify feeding disorders among children with special needs in outpatient paediatric setting. WHAT THIS PAPER ADDS: What is already known on the subject The MCH-FS is a valid and reliable parent-report measure aimed at discriminating between children presenting or not feeding disorders. What this paper adds to existing knowledge This paper presents the translation and cross-cultural adaptation of the scale into the Italian language. What are the potential or actual clinical implications of this work? The Italian version of the MCH-FS can be used in the special healthcare needs population.

What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review.

Achondroplasia is an autosomal dominant genetic disease representing the most common form of human skeletal dysplasia: almost all individuals with achondroplasia have identifiable mutations in the fibroblast growth factor receptor type 3 (FGFR3) gene. The cardinal features of this condition and its inheritance have been well-established, but the occurrence of feeding and nutritional complications has received little prominence. In infancy, the presence of floppiness and neurological injury due to foramen magnum stenosis may impair the feeding function of a newborn with achondroplasia. Along with growth, the optimal development of feeding skills may be affected by variable interactions between midface hypoplasia, sleep apnea disturbance, and structural anomalies. Anterior open bite, prognathic mandible, retrognathic maxilla, and relative macroglossia may adversely impact masticatory and respiratory functions. Independence during mealtimes in achondroplasia is usually achieved later than peers. Early supervision of nutritional intake should proceed into adolescence and adulthood because of the increased risk of obesity and respiratory problems and their resulting sequelae. Due to the multisystem involvement, oral motor dysfunction, nutrition, and gastrointestinal issues require special attention and personalized management to facilitate optimal outcomes, especially because of the novel therapeutic options in achondroplasia, which could alter the progression of this rare disease.

Predictors of Urinary Abnormalities in Children Hospitalised for Their First Urinary Tract Infection.

We aimed to investigate if children with their first UTI and a concomitant positive blood culture have a higher risk of abnormalities. We performed a retrospective study of children younger than 18 years of age with their first UTI. Multivariate logistic regression and receiver operating characteristic (ROC) curves were used to evaluate if positive blood cultures are associated with urinary abnormalities. After the screening process, we considered the enrolled 161 children with UTIs. The median age was three months, and 83 were females (43.2%). In multivariate analysis, age (p = 0.001, 95% CI 1.005-1.020), the presence of Pseudomonas aeruginosa or unusual germs in urine cultures (p = 0.002, 95% CI 2.18-30.36) and the positivity of blood cultures (p = 0.001, 95% CI 2.23-18.98) were significantly associated with urinary abnormalities. A model based on these parameters has an AUC of 0.7168 to predict urinary malformations (p = 0.0315). Conclusions include how greater age, a positive blood culture and the presence of Pseudomonas aeruginosa or unusual germs in urine culture in children hospitalised for their first episode of a UTI are factors associated with a significantly higher risk of urinary abnormalities. These data can guide the implementation of more personalized strategies to screen for urinary abnormalities that may be included in future guidelines.

Management of nutritional and gastrointestinal issues in RASopathies: A narrative review.

Noonan, Costello, and cardio-facio-cutaneous syndrome are neurodevelopmental disorders belonging to the RASopathies, a group of syndromes caused by alterations in the RAS/MAPK pathway. They are characterized by similar clinical features, among which feeding difficulties, growth delay, and gastro-intestinal disorders are frequent, causing pain and discomfort in patients. Hereby, we describe the main nutritional and gastrointestinal issues reported in individuals with RASopathies, specifically in Noonan syndrome, Noonan syndrome-related disorders, Costello, and cardio-facio-cutaneous syndromes. Fifty percent of children with Noonan syndrome may experience feeding difficulties that usually have a spontaneous resolution by the second year of life, especially associated to genes different than PTPN11 and SOS1. More severe manifestations often require artificial enteral nutrition in infancy are observed in Costello syndrome, mostly associated to c.34G>A substitution in the HRAS gene. In cardio-facio-cutaneous syndrome feeding issues are usually present (90-100% of cases), especially in individuals carrying variants in BRAF, MAP2K1, and MAP2K2 genes, and artificial enteral intervention, even after scholar age, may be required. Moreover, disorders associated with gastrointestinal dysmotility as gastro-esophageal reflux and constipation are commonly reported in all the above-mentioned syndromes. Given the impact on growth and on the quality of life of these patients, early evaluation and prompt personalized management plans are fundamental.

Comparison between Short Therapy and Standard Therapy in Pediatric Patients Hospitalized with Urinary Tract Infection: A Single Center Retrospective Analysis.

Introduction: There is marked heterogeneity in clinicians' choice of antibiotic duration for pediatric urinary tract infections (UTIs). Most patients with bacterial UTIs still receive between 7 and 10 days of antibiotics. Prolonged antibiotic exposure drives the emergence of resistance and increases the occurrence of adverse effects. There is increasing evidence that shorter antibiotic regimens may be equally effective compared with longer ones. However, studies evaluating shorter therapies in children hospitalized with urinary tract infections have not yet been performed. Methods: We performed a retrospective study comparing children hospitalized with UTIs treated with a short antibiotic (<7 days) or standard antibiotic treatment. The primary aim of our study was to assess the efficacy of a shorter antibiotic therapy for children with UTIs, compared with an historical group of children treated with a standard 7−14 days course. Results: 112 patients, 46 of which were females (41.1%) with a median age 6 months were enrolled. A total of 33 patients (29.5%) underwent a short therapy. All patients were successfully discharged from the acute episode, independently from antibiotic duration. Short therapy was associated with a lower risk of urinary tract relapse (22 relapses (95.6%) in the standard group, 1 (4.4%) in the short group; OR 0.081; 95%CI 0.01−0.63). Conclusions: Short antibiotic therapy was equivalent to standard duration therapy for the cure of UTIs in hospitalized children and was also associated with a lower rate of recurrences. This study provides the basis for a larger prospective randomized study to address the role of short antibiotic therapies in children with UTIs requiring hospitalization

Intestinal Permeability in Children with Functional Gastrointestinal Disorders: The Effects of Diet.

Functional gastrointestinal disorders (FGIDs) are very common and life-impacting in children and young adults, covering 50% of pediatric gastroenterologist consultations. As it is known, FGIDs may be due to alterations in the gut-brain axis, dysbiosis and dysregulation of intestinal barrier, causing leaky gut. This may enhance increased antigen and bacterial passage through a damaged mucosa, worsening the impact of different medical conditions such as FGIDs. Little is known about the role of nutrients in modifying this "barrier disruption". This narrative review aims to analyze the clinical evidence concerning diet and Intestinal Permeability (IP) in FGIDs in children. We searched the PubMed/Medline library for articles published between January 2000 and November 2021 including children aged 0-18 years old, using keywords related to the topic. Since diet induces changes in the intestinal barrier and microbiota, we aimed at clarifying how it is possible to modify IP in FGIDs by diet modulation, and how this can impact on gastrointestinal symptoms. We found that) is that small changes in eating habits, such as a low-FODMAP diet, an adequate intake of fiber and intestinal microbiota modulation by prebiotics and probiotics, seem to lead to big improvements in quality of life.

Variation of plasma citrulline as a predictive factor for weaning off long-term parenteral nutrition in children with neonatal short bowel syndrome.

BACKGROUND & AIMS: Long-term parenteral nutrition (PN) is the mainstay of the therapeutic strategy in intestinal failure (IF) due to neonatal short bowel syndrome (SBS). Our aim was to identify prognostic factors for PN weaning and to assess if measuring plasma citrulline concentrations over time could account for the intestinal adaptation in progress. METHODS: This retrospective study included children with neonatal SBS with surgical measurement of the residual bowel length and repeated plasma citrulline assessments during a 4-year follow-up. The degree of IF was assessed by the PN dependency index (PN caloric intake/Resting energy expenditure). The analysis was carried out according to SBS anatomical groups: end-jejunostomy (type 1), jejuno-colic (type 2) and jejuno-ileal anastomosis (type 3). RESULTS: Fifty-five patients (8 type 1, 27 type 2, 20 type 3) were included. None of the patients with SBS type 1, 11 (41%) with type 2 and 11 (55%) with type 3 were weaned off during the follow-up period. Plasma citrulline levels significantly increased with time in patients who were finally weaned off PN; conversely, the levels did not consistently increase in patients who were still on PN at the end of the study period. There was an inverse relationship between plasma citrulline levels and the PN dependency index. The increasing citrulline levels had a positive effect on the probability of weaning, 2.7 times higher for each point increase in citrulline. No significant effect of age and residual bowel length at baseline was found. CONCLUSION: The increased plasma citrulline level over time in addition to the SBS anatomical type is a reliable marker for subsequent PN weaning. The prediction of PN weaning assessed solely by the residual bowel length or a single measurement of citrulline is insufficient and should also take into account the anatomical type of SBS and repeated measurements of plasma citrulline levels.

Quality of life in long term survivors of pediatric intestinal transplantation compared with liver transplantation and home parenteral nutrition: A prospective single-center pilot study.

Health-related quality of life (HRQOL) after intestinal transplantation (IT) is important, as many psychological troubles have been reported in these patients on the long term. Our aim was to assess and compare HRQOL of patients after IT to patients after liver transplantation (LT) or on home parenteral nutrition (HPN) for intestinal failure. A cross-sectional study included patients and their parents between 10 and 18 years of age, on HPN for more than 2 years, or who underwent IT or LT, with a graft survival longer than 2 years. Quality of life was explored by Child Health Questionnaire. Thirteen children-parents dyads after IT, 10 after LT, and eight children on HPN completed the survey. Patients were a median age of 14 years old, a median of 10 years post-transplantation or on HPN. Patients after IT scored lower than patients after LT or on HPN in "social limitations due to behavioral difficulties" and in "behavior." They scored higher than those on HPN in "global health." Parents of children after IT scored lower than those after LT in many domains. No relevant correlation with clinical data was found. Our study showed the multi-level impact of IT on quality of life of patients and their parents. It highlights the importance of a regular psychological follow-up for patients, but also of a psychological support for families. Helping the patients to overcome the difficulties at adolescence may improve their mental health in adulthood.

Embryopathy Following Maternal Biliopancreatic Diversion: Is Bariatric Surgery Really Safe?

Pregnancy after bariatric surgery is usually considered safe. Recently, a few studies reported that bariatric surgery represents a risk factor for birth defects. A case series of six patients, born from women who had undergone biliopancreatic diversion, is reported. The clinical pattern was characterized by psychomotor development delay (100%), microphthalmia (83%), growth retardation (66%), hearing loss (66%), and variable facial dysmorphism. Based on the clinical profile and symptoms reported by women during pregnancy, a causal association between maternal chronic post-surgical malabsorption, congenital anomalies, and neonatal outcome is proposed, with vitamin A deficiency representing a major causing factor. Educational follow-up support, continuous clinical monitoring, and appropriate nutritional assessment appear to be crucial to reduce the potential risk of congenital malformations and child disability.