Italian Journal of Pediatrics最新文献

Background: The study aimed to evaluate the changes in mindful eating scores, anthropometric measurements, and dietary adequacy in children after the Mindful Eating Intervention Program for Children and Parents (MEIP-CP).

Methods: This study was conducted as a quasi-experimental design with a pre-test and post-test pattern. The research sample comprised 64 children (48.4% boys, 51.6% girls) aged 8-11 years and their parents. The MEIP-CP includes six sessions (preventing mindless eating, exploring the senses, recognizing hunger and fullness signals, expressing emotions, sowing the seeds of awareness, and cultural meal invitation) of 45-60 min/per week. Data was obtained using questionnaire with face-to-face interviews at the pre-test (baseline), post-test (week 6 and week 12). The survey form included the socio-demographics information, the Mindful Eating Questionnaire for Children (MEQ-C), the Emotional Eating Scale for Children and Adolescents (EES-C), anthropometric measurements, and a 24-hour dietary recall. The nutrient adequacy ratio (NAR) and mean adequacy ratio (MAR) were used to evaluate children's diets.

Results: The Mindless eating scores of children decreased, and Awareness scores increased at post-test evaluation (p < 0.05). No significant difference was found in the anthropometric measurements of both boys and girls during the study (p > 0.05). Following the MEIP-CP, there was a trend toward decreased EES-C subscales scores. The rate of those who were in the "good" group (> 80%) in terms of MAR rating baseline (46.9%) increased to 70.3% in the sixth week. While gender, the EES-C score, and Body Mass Index were associated with the Mindless eating score, age, the MAR rating, and the EES-C scores were associated with the Awareness score in regression models (p < 0.05).

Conclusions: The MEIP-CP may contribute to increasing mindful eating and dietary adequacy in addition to reducing emotional state-related behaviours in children.

Eosinophilic gastroduodenitis (EoGD) is a group of chronic inflammatory disorders characterized by an increased presence of eosinophils in the stomach and duodenum. Although relatively rare, it is an increasingly recognized form of eosinophilic gastrointestinal diseases (EGIDs) with significant clinical implications, particularly in pediatric patients. Despite advancements in diagnostic tools, considerable delays in diagnosis persist due to the nonspecific nature of clinical manifestations, which often resemble more common gastrointestinal disorders. Early referral to a gastroenterologist is critical, especially when patients present with persistent gastrointestinal signs and symptoms that do not improve with treatment for common conditions like irritable bowel syndrome. Food allergens and microbiota may play a role in the pathogenesis of this disease. Management typically involves a combination of dietary modifications, pharmacological treatments such as corticosteroids, and, in some cases, biologic agents targeting eosinophilic inflammation. However, long-term outcomes remain variable, and data on prognosis are still limited, underscoring the need for further research. Future studies should focus on validating new diagnostic markers and therapeutic strategies, better understanding long-term outcomes, and developing personalized treatment plans. A multidisciplinary approach, incorporating the expertise of gastroenterologists, allergists, dietitians, and surgeons, is crucial to ensure optimal patient care and management.

Background: Congenital hypothyroidism (CH) is the most common congenital endocrine disorder and one of the most preventable causes of intellectual disability. The underlying etiology of CH can be thyroid dysgenesis or dyshormonogenesis, and in rare cases, CH can occur as part of a genetic syndrome. Sotos syndrome is a rare overgrowth disorder caused by pathogenic variants in the NSD1 gene, characterized by excessive growth in infancy, distinctive facial features, and developmental delay.

Case presentation: We describe two unrelated children with permanent CH and genetically confirmed Sotos syndrome. Both children were referred to our Pediatric Endocrinology Centre due to abnormal thyroid-stimulating hormone (TSH) values detected through neonatal screening. A permanent CH was confirmed in both cases: one patient had thyroid hypoplasia with the presence of only the right thyroidal lobe; the other one had an in-situ thyroid gland. The diagnosis of Sotos syndrome was made later in infancy. In the first case, auxological parameters at birth were within normal ranges and overgrowth became apparent after six months of age; in the second case, overgrowth was already manifest at birth, but the diagnosis was guided primarily by the neurodevelopmental delay.

Conclusion: We describe two cases in which CH occurred with Sotos syndrome, and we hypothesize that this association may not be coincidental. To our knowledge, these are among the few reported cases of genetically confirmed Sotos syndrome associated with permanent congenital hypothyroidism. Further studies are needed to determine whether CH is a clinical feature of Sotos syndrome or an unrelated finding. We recommend early thyroid function testing in patients with Sotos syndrome and suggest suspecting Sotos syndrome in children presenting with CH, cognitive delay and overgrowth or additional congenital anomalies.

Background: Beckwith-Wiedemann syndrome (BWS) is a rare congenital overgrowth disorder characterized by various clinical features and (epi)genetic defects. The study aims to elaborate on the clinical features, (epi)genetic errors, and (epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome (BWS) in the past ten years.

Methods: A retrospective study was designed on patients with BWS from July 2013 to October 2022 from Children's Hospital of Fudan University. Clinical data, including demographics, clinical features, and molecular testing results, were collected, and the (epi)genotype-phenotype correlations were systematically analyzed. The clinical diagnosis standard and scoring were referred to the international experts' consensus (2018 version). Patients suspected or clinically diagnosed with BWS underwent MS-MLPA testing for (epi)genotyping.

Results: 242 BWS patients (119 males and 123 females) aged from 0 to 69 months were in the study. The most common clinical features were macroglossia (96.3%), followed by lateralized overgrowth (63.6%) and ear creases/pits (50.4%). Two hepatoblastomas and one Wilms tumor were found in the cohort. The average BWS clinical score was 5.74 ± 1.73 points. The (epi)genotyping results identified the three most common (epi)genetics errors: IC2 LOM, pUPD11, and IC1 GOM accounted for 52.3%, 19.2%, and 9.3%, respectively, of all patients who underwent MS-MLPA testing. A characteristic pattern was found in the three different molecular groups. Macroglossia, exomphalos, and facial naevus simplex were more common in IC2 LOM than in IC1 GOM and pUPD11 (p < 0.05). Lateralized overgrowth was more common in pUPD11 than in IC2 LOM and IC1 GOM group (p < 0.001). Nephromegaly or hepatomegaly was more common in IC1 GOM than in IC2 LOM and pUPD11 (p < 0.001).

Conclusion: The (epi)genotype-phenotype correlations delineate different phenotypic profiles. Molecular testing and standardization of BWS diagnostic procedures are of great significance for the early diagnosis and surveillance of BWS.

Background: An infant requiring admission to the Neonatal Intensive Care Unit (NICU) is frequently associated with parental stress and anxiety. Irritable bowel syndrome (IBS) represents one of the most common disorders of gut-brain interaction in adult population. The primary objective of this study was to evaluate IBS symptoms in mothers and fathers of NICU infants during hospitalization. Secondary objective was to explore the relationship among NICU stressors, anxiety and IBS symptoms.

Methods: Cross-sectional study. Eighty parents (mothers = 44, fathers = 36) of NICU hospitalized infants filled out validated questionnaires on IBS symptoms, anxiety and NICU stressors (i.e., Sights and Sounds, Infant's Look and Behaviour, Parental Role Alterations). Student's t test and Chi-square test were used to compare maternal and paternal IBS symptoms, prevalence and severity. The mediating effect of anxiety among NICU stressors and IBS was tested using mediation analysis.

Results: Mothers scored above the clinical cut-off for IBS more frequently than fathers (59.1% vs. 44.6%). Symptoms were significantly higher in mothers as compared to fathers (p = .021). Anxiety fully mediated the effect of Sights and Sounds (β = 0.147, SE = 0.058, 95% CI: [ 0.046, 0.277]), Infant Look and Behaviour (β = 0.117, SE = 0.049, 95% CI: [0.024, 0.215]) and Parental Role Alterations (β = 0.132, SE = 0.050, 95% CI: [0.044, 0.241]) on IBS symptoms.

Conclusions: Our study demonstrated for the first time that parents of NICU infants experience IBS symptoms during hospitalization and distinguished the somatic experience among mothers and fathers during their infant NICU stay. Parental experience of NICU hospitalization deserve to be studied as a potential stressful life event implying both psychological and somatic distress. Integrating tailored stress-reduction interventions sensitive to gender differences into Family Centered-Care practices is essential to reduce parental distress and support parental involvement during NICU hospitalization.

Background: The emergence of Multisystem Inflammatory Syndrome in Children (MIS-C) during the COVID-19 pandemic has posed new challenges in differentiating it from classical Kawasaki disease (KD). Understanding their distinct presentations and outcomes is crucial for appropriate management strategies. We aimed to characterize and compare the clinical presentations, laboratory findings, cardiac manifestations, and treatment outcomes of KD and MIS-C in pediatric patients during the COVID-19 pandemic at a tertiary care center in Saudi Arabia.

Methods: In this retrospective cohort study, we analyzed data from 41 pediatric patients (ages 0-14 years) diagnosed with either KD (n = 31) or MIS-C (n = 10) between January 2020 and December 2023. Diagnoses were established using the American Heart Association criteria for KD and World Health Organization criteria for MIS-C. Clinical features, laboratory parameters, cardiac findings, and treatment responses were compared between groups.

Results: Among the 41 patients (median age 5.6 years, 56.1% male), KD patients demonstrated significantly higher rates of conjunctivitis (64.5% vs. 0%, p < 0.001) and rash (80.6% vs. 40%, p = 0.014) compared to MIS-C patients. Laboratory findings showed distinct patterns: KD patients had higher ESR (92.9 ± 50.7 vs. 58.4 ± 28.6 mm/hr, p = 0.042) and albumin levels (3.4 ± 0.4 vs. 3.1 ± 0.3 g/dL, p = 0.026), while MIS-C patients exhibited higher ferritin (1907 ± 3602 vs. 239 ± 397 ng/mL, p = 0.05), AST (398 ± 554.7 vs. 39.03 ± 23.8 U/L, p = 0.013), and LDH levels (973 ± 991.1 vs. 297.0 ± 96.6 U/L, p = 0.006). Coronary artery abnormalities were more frequent in KD (35.5% vs. 10% for diameter > 2 mm), with one case developing a coronary aneurysm. One mortality occurred in the MIS-C group due to sepsis.

Conclusions: This study identifies distinct clinical and laboratory profiles between KD and MIS-C during the COVID-19 pandemic. While both conditions can affect the coronary arteries, our findings suggest potentially different pathophysiological mechanisms. These observations may help inform diagnostic approaches and treatment strategies, though larger multicenter studies are needed to validate these findings.

Background: Due to the non-specific symptoms of pulmonary tuberculosis (PTB) in children, the diagnosis of PTB in children is a major challenge for clinicians in the absence of microbiological confirmation. This study aims to construct a simple clinical prediction model for empiric diagnosis of PTB through careful clinical symptoms and medical history.

Methods: Retrospective analysis of clinical data and laboratory data of children with PTB and community acquired pneumonia (CAP) diagnosed at Tianjin Children's Hospital from January 2018 to October 2023. All patients were randomly divided into a 7:3 ratio into a modeling group and a validation group. The modeling group was used to perform logistic analysis to identify independent risk factors and construct a clinical prediction model for PTB in children. The validation group was used to further assess the clinical efficacy of the model.

Results: A total of 434 children were included in this study. The modeling group included 305 patients (125 with PTB, 180 with CAP) and validation group included 129 patients (53 with PTB, 76 with CAP). Four variables including basic disease, tuberculosis contact history, maximum body temperature and weight loss were identified as potential predictors used for developing a nomogram. The nomogram showed a good diagnostic performance in the modeling group [area under the curve (AUC) (95% confidence interval (CI)), 0.810(0.759 ~ 0.860)]. The decision curve analysis (DCA) and calibration curve indicated that the clinical prediction model for pediatric PTB has good clinical practicality and accuracy. The validation group also showed good clinical efficacy [AUC (95%CI), 0.864(0.794 ~ 0.934)], indicating that the model is feasible and reproducible.

Conclusions: This study developed and validated a nomogram for predicting PTB in children. This nomogram represents good clinical performance and might be utilized clinically in the empirical diagnosis of PTB in children.

Background: Hereditary Hemorrhagic Telangiectasia (HHT) is a rare, hereditary, autosomal dominant vascular disease, characterized by visceral arteriovenous malformations (AVMs), mucocutaneous telangiectasias and epistaxis. While symptomatic medical and surgical therapies are used in the management of pediatric patients, data comparing phenotypic presentation between genetically related individuals (e.g., parent-child pairs) remain limited.

Aims and methods: We conducted a single-center retrospective study involving pediatric patients with genetically confirmed HHT and their affected parents at Fondazione Policlinico Universitario A. Gemelli IRCCS in Rome, Italy. The aim of our study was to assess genotype-phenotype correlation and intrafamilial HHT-phenotypic variability. Clinical, laboratory, imaging, and therapeutic data were collected between May 2022 and May 2023. Variables including presence of AVMs, epistaxis, telangiectasias, anemia, and need for interventions were compared between children and their parents.

Results: The study included 11 children (mean age 11.8 years) and 9 adults (mean age 47 years), all exhibiting ENG or ACVRL1 variants. While epistaxis was common in both cohorts (91% in children vs. 100% in adults), mucocutaneous telangiectasias and AVMs were more prevalent in adults. AVMs were more frequently detected in adults, especially among ENG carriers. Notably, phenotype concordance between parent-child pairs with the same mutation was observed in only 3 up to 9 families (33.3%), with substantial intrafamilial variability in AVM distribution and disease severity.

Conclusions: Our findings confirm the variable expressivity of HHT, even among first-degree relatives sharing the same pathogenic variant. No consistent overlap was observed between parent and child phenotypes, reinforcing the need for individualized pediatric screening and follow-up. Early genetic testing remains essential to prevent complications and guide appropriate management.

Background: Community-acquired pneumonia (CAP) is a leading cause of morbidity and mortality in the pediatric population worldwide. Establishing a definitive etiological diagnosis in children with CAP remains challenging, as clinical, laboratory, and radiologic findings are often insufficient. Consequently, empirical and frequently unnecessary antibiotic treatments are commonly prescribed.

Main body: Lung ultrasound (LUS) has demonstrated diagnostic accuracy comparable to chest X-ray (CXR) for CAP, while eliminating radiation exposure. Emerging evidence suggests that LUS may also differentiate the underlying etiologies of CAP. Assuming that distinct CAP etiologies exhibit characteristic LUS features, we aim to design a study protocol to develop a predictive model that integrates a child's clinical information with their specific LUS patterns to inform individualized treatment strategies.

Conclusions: This clinical approach will comprehensively evaluate clinical, laboratory, LUS, and outcome data from pediatric patients with CAP of various causes. If more centers will use the same approach, this will allow to gather in the short time data from large and diverse cohorts to facilitate the optimization and understanding of how LUS can potentially help understanding the etiology of CAP. The integrated data will be used to support tailored management strategies for pediatric CAP.

Electronic nicotine delivery systems (ENDS), heated tobacco products (HTP), and nicotine pouches have rapidly gained popularity among adolescents, driven by appealing flavors, targeted marketing strategies, and widespread misperceptions of reduced harm. This joint position paper, endorsed by the Italian Society of Pediatrics (SIP) and the Italian Pediatric Respiratory Society (SIMRI), considers current evidence on patterns of youth use and outlines potential prevention strategies. We examine industry tactics, including social-media influencer campaigns and product design features that disproportionately attract adolescents, and discuss the influence of peer, family, and environmental factors on product uptake. Parents and caregivers play a pivotal role through open dialogue, modeling nicotine-free behaviors, and monitoring access. Pediatricians and primary-care providers should incorporate routine screening for all nicotine products into well-child visits, deliver brief motivational counseling, and connect families with cessation resources tailored to teens. Continuous surveillance of youth consumption patterns and systematic evaluation of intervention effectiveness will ensure strategies remain responsive to evolving product designs and marketing practices. Through coordinated policy changes, healthcare support, community action, and education, it is possible to prevent nicotine initiation among adolescents and foster a generation free from smoke and vaping addiction.