Pediatr. Rep., Volume 17, Issue 3 (June 2025) – 11 articles

Objectives: Feeding and eating disorders (FED) represent a major public health issue and are the second leading cause of death among psychiatric conditions in children and adolescents. Psychopathological comorbidities play a significant role in the onset and persistence of FED, yet research on their underlying structure remains limited. This study explores the psychiatric comorbidities associated with FED, focusing on common etiopathogenetic factors and their clinical implications. Methods: Data were retrospectively collected from the Italian Regional Center for FED in the Emilia-Romagna Region between June 2023 and April 2024. Diagnoses were assigned following DSM-5 criteria using the Italian version of the semi-structured K-SADS-PL diagnostic interview. Principal component analysis (PCA) was performed to identify latent psychological dimensions underlying FED psychopathology, retaining five components based on the scree plot. Additionally, an analysis of covariance (ANCOVA) was conducted to examine differences in factor scores across FED subtypes, while adjusting for potential confounders. Results: Seventy-two participants were included (mean age: 14.6 years; mean BMI: 18.3 kg/m²; male-to-female ratio: 1:8). Diagnoses were distributed as follows: 63.9% anorexia nervosa (AN), 13.9% other specified feeding and eating disorder (OSFED), 6.9% avoidant restrictive food intake disorder (ARFID), 4.2% binge eating disorder (BED), 4.2% unspecified feeding and eating disorder (UFED), and 2.7% bulimia nervosa (BN). All participants met the criteria for at least one psychiatric comorbidity. Identified psychopathological clusters include the following: (1) mood disorders (66.5%); (2) anxiety disorders (87.5%); (3) obsessive–compulsive and related disorders (47.2%); (4) neurodevelopmental disorders, i.e., attention-deficit/hyperactivity disorder (ADHD) (30.5%); (5) disruptive and impulse-control disorders (13.9%); and (6) psychotic symptoms (40.3%). No instances of tic or elimination disorders were detected. Conduct disorder was more prevalent among UFED, BED, and BN patients compared to other FED (p = 0.005), and moderate/severe ADHD was associated with higher body mass index (BMI) (p = 0.035). PCA revealed distinct psychological dimensions underlying FED, while ANCOVA indicated significant differences in factor scores across FED subtypes, supporting the presence of shared transdiagnostic mechanisms. Conclusions: This study highlights the complex interplay between FED and psychiatric comorbidities, emphasizing the need for early intervention and personalized treatment approaches. The dimensional structure identified through PCA suggests that common psychopathological factors may drive FED development, and ANCOVA findings support their differential expression across FED types. Future research should further investigate these transdiagnostic mechanisms to optimize clinical care. Full article

Munchausen Syndrome by Proxy (MSBP) is recognized as a form of child abuse in which a caregiver induces or fabricates illnesses in their child to gain medical and social attention. MSBP represents one of the most complex and insidious forms of child abuse, characterized by an ambiguous clinical presentation that poses significant challenges for physicians, psychiatrists, and social workers. However, this condition raises critical questions regarding its diagnosis, management, and forensic implications. Traditionally, MSBP has been framed as an individual pathological manifestation of the mother, overlooking the role of the healthcare and legal systems in its identification and management. In this article, we propose a critical reflection on MSBP, emphasizing how the issue is not merely a “parental failure” but rather a systemic failure of healthcare, social, and judicial institutions in recognizing, preventing, and effectively managing such cases. Full article

Mindfulness-Based Interventions (MBIs) are important tools to address mental health issues in children and adolescents. However, previous studies provided variable results that suggest that the effectiveness of those third-wave Cognitive Behavioral Therapies remains uncertain. Objectives: The main objective is to assess the impact of MBIs on anxiety, depression, and stress in children and adolescents. The secondary objective is to examine the modalities of MBIs used, the duration of interventions, and potential confounding factors, such as age. Methods: A comprehensive search of multiple databases was conducted to identify randomized clinical trials (RCTs) evaluating the effects of MBIs on mental health outcomes in children and adolescents. The research was registered in PROSPERO, adhered to PRISMA guidelines, employed the Cochrane Risk of Bias 2 tool, and calculated the effect sizes using mean differences. Results: Thirteen RCTs were included; ten were identified as having some concerns, while three were classified as having a low risk of bias. Mindfulness-Based Stress Reduction (MBSR) demonstrated a small positive effect on depression and anxiety, while non-specific MBIs showed a moderate positive effect both on depression and anxiety. Mindfulness-Based Cognitive Therapy (MBCT) was effective in reducing anxiety, depression (moderate positive effects on both), and stress symptoms. In one study, no significant improvements were seen on both anxiety and depression (for MBCT) and in another study on anxiety (for MBCT/MBSR). The meta-analysis did not identify a significant effect of mindfulness interventions on depression or anxiety. The high heterogeneity suggests varying outcomes, requiring further study of moderating factors. Conclusions: While some studies suggest benefits from MBIs, mainly MBCT’s ability to improve mental health outcomes in children and adolescents, their overall efficacy remains uncertain due to the high heterogeneity. The findings underscore the importance of considering the intervention type, duration, and moderating factors, such as age, when implementing MBIs. Full article

Background/Objectives: Pediatric postoperative respiratory failure in the United States is increasingly considered a significant adverse event due to the increased risk of co-morbidities, suffering, and cost of healthcare. This study investigates associations between pediatric adverse events (PAEs) and hospital and patient characteristics within the inpatient hospital setting, focusing solely on the framework of pediatric quality indicators (PDIs) from the Agency for Healthcare Research and Quality (AHRQ). Specifically, the study focuses on PDI 09-Postoperative Respiratory Failure (PORF). Methods: This quantitative research analyzed the inpatient discharge data from the Healthcare Cost and Utilization Project (HCUP) Kids’ Inpatient Databases (KID) for 2019. We performed multivariate logistic regression to analyze patient-level encounters with PORF. Results: The results indicate that smaller, rural, and non-teaching hospitals exhibit significantly lower odds of PDI 09 than large, urban, and urban teaching hospitals, reflecting a concentration of operative procedures. In comparison, the Western United States exhibits higher odds of PDI 09. Various individual factors such as gender, age, race, service lines, payment sources, and major operating room procedures demonstrate differing levels of significance concerning PDI 09, warranting further investigation into confounding factors. In contrast, hospital ownership consistently shows lower odds of PORF risk for private, investor-owned hospitals. Conclusions: This study provides contextual expansion on the findings and offers valuable insights into PAEs in the inpatient hospital setting. It highlights areas for developing evidence-based interventions and guidelines for clinicians and policymakers. Ultimately, the findings contribute to the growing understanding of factors influencing PORF and emphasize the importance of targeted strategies for improving pediatric patient safety. Full article

Background/Objectives: Pediatric multiple sclerosis (MS) is a rare and complex neuroinflammatory disease characterized by demyelination and neurological dysfunction in individuals under 18 years of age. This systematic review and activation likelihood estimation (ALE) meta-analysis aimed to synthesize the existing literature on functional and structural brain alterations in pediatric MS patients. Methods: Following the PRISMA guidelines, we analyzed 21 studies involving 917 pediatric MS patients and 320 healthy controls, assessing brain structure and function using MRI and fMRI techniques. Results: The results reveal consistent alterations in brain regions critical for cognitive and motor functions, including reduced brain volume, increased lesion load, and disrupted functional connectivity, particularly in the thalamus, cerebellum, and hippocampus. The ALE meta-analysis identified significant activation clusters in the dorsal anterior cingulate cortex, angular gyrus, and superior parietal lobes, regions associated with cognition, attention, and working memory. Conclusions: These findings suggest that pediatric MS uniquely affects brain development, contributing to cognitive impairments that differ from those observed in adult MS. Our study underscores the importance of early diagnosis and tailored therapeutic interventions to mitigate neurodevelopmental disruptions and improve long-term outcomes in pediatric MS patients. Full article

Introduction: The psychosocial impact of living with an Inherited Metabolic Disorder (IMD) is becoming increasingly relevant and can have a significant impact on planning the future, conditioning the reproductive decisions made during adolescence and young adulthood. The aim of this paper is to explore thoughts about partner choices, parenthood and pregnancy among adolescents and young adults affected by IMDs. Methods: A cross-sectional study was performed. A sample of 23 patients affected by a range of IMDs were interviewed. Twenty-two questions were provided, distinguished into four main themes: partners, parenthood, pregnancy and need for information. Results: More than half of participants (57%) reported insecurities about relationships and declared that they were single for this reason, with most (70%) having a hope of having children in the future, although with the awareness and fear that they could also be affected. Almost all females (90%) consider themselves able to carry a pregnancy in a way similar to other women. There was the common need for more information about their potential fertility and parenthood linked to their condition. Conclusion: Being diagnosed with an IMD can influence personal decisions regarding relationships and reproduction. The early identification of issues in these domains may enhance referrals for personalized interventions and build more focused support programmes. Full article

Background/Objectives: This study of endophenotypes represents a new research approach to overcome the limits of a syndromic model to psychiatric diseases. The Affective Neuroscience Personality Scales (ANPS, 31) is a self-report questionnaire used to facilitate the transition from the syndromic to the endophenotypic model through the assessment of basic emotional systems described by Panksepp (1): SEEKING, PLAY, CARE, FEAR, RAGE, PANIC, and LUST. The ANPS was used with adults, but it may be important to investigate the expression of basic emotional systems in childhood clinical disorders. Methods: The present study compares the ANPS scores of a group of children (n = 71) with internalizing disorders (diagnoses of depression and anxiety) with those of a normative group (n = 208) (8–13 years). Conclusions: We found that the group with internalizing disorders showed significantly lower scores for SEEKING and PLAY and significantly higher scores for ANGER and SADNESS than the control group. Furthermore, depressed children reported significantly lower scores in the SEEKING, PLAY, CARE scales and higher scores in the ANGER and SADNESS scales than healthy children. The children with anxiety disorder had significantly lower scores in the SEEKING and PLAY scales and higher scores in the FEAR and SADNESS scales than control children. No significant effect was found in reference to the age of the children. The results indicate that the ANPS might be a useful instrument to assess the expression of emotional endophenotypes in childhood. Full article

Cowden syndrome (CS) is a rare hereditary disorder characterized by benign overgrowth in various tissues and a high risk of breast and thyroid cancer. CS is closely associated with pathogenic variants (PVs) in the phosphatase and tensin homolog (PTEN) tumor suppressor gene. PVs in PTEN are usually inherited and estimates of de novo frequencies remain inconclusive. The diagnosis of PTEN-associated syndromes remains a challenge in clinical practice, due to patients showing seemingly unrelated symptoms. We report on the clinical management of a now 18-year-old female CS patient, who initially presented with macrosomia, motor development delay and later, lipomas on the abdominal wall. Genetic testing revealed a de novo PTEN PV c.1003C>T(p.Arg335X). The PV was detected in leukocyte DNA of the patient. Using direct DNA sequencing, as well as NGS, the PV was not found in any of the tissues derived from immediate family members. However, the PV was detected in multiple samples representing other germ layers of the affected patient, which renders constitutional mosaicism unlikely. This case constitutes the first description of a de novo PTEN PV, in which constitutional mosaicism was systematically ruled out and underscores the importance of timely genetic testing of patients and their relatives. The diagnosis of a PTEN PV in early childhood allows for the implementation of a comprehensive, lifelong care plan that addresses both pediatric and adult medical needs as well as cancer risk surveillance and family planning. This not only accounts for the affected patients, but also their close family members who might be susceptible to the same PV. Full article

Introduction: Acute abdominal pain is a prevalent complaint in pediatric emergency departments. Primary care physicians can find it challenging to treat such pain and, in particular, to determine whether it requires emergent surgical intervention. Acute appendicitis is the most common surgical cause of abdominal pain, but it is important to understand that other rare conditions can also be life-threatening. Case presentation: We report the case of a 6-year-old girl who presented to our pediatric emergency center with complaints of acute abdominal pain, vomiting, and diarrhea. She had no notable medical history, including perinatal, surgical, or psychiatric disorders. After finding a bezoar-like structure through a combined enteritis CT scan, reassessing the child’s dietary concerns revealed that the child had experienced symptoms of trichophagia for approximately 3 to 4 years. Enterotomy and the removal of the bezoar were successfully performed. A pediatric psychiatric consultation was carried out to prevent further trichophagia-induced complications. Conclusions: Despite our patient’s relatively young age and the failure to obtain a history of trichophagia at the onset, we successfully diagnosed a rare condition called Rapunzel syndrome. Although several cases of this condition have been reported by pediatric surgeons, we emphasize the role of physicians in pediatric emergency departments when examining children with this rare syndrome. Full article

Background/Objectives: The aim of this retrospective study was to investigate the supernumerary teeth located in the anterior region of the maxilla of non-syndromic Greek children and adolescents, as well as their possible correlation with demographic characteristics and radiographic findings. Methods: The study sample comprised cone-beam computed tomography (CBCT) scans from 224 children and adolescents aged up to 18 years. The following parameters were studied: location of supernumerary teeth in the anterior maxillary area, their morphology, their relationship to adjacent anatomical structures and adjacent teeth, and potential implications. Results: Out of the 224 cases 26 (11.6%) presented supernumerary teeth. There was higher prevalence in males than females (61.5% versus 38.5%, respectively). Among the 26 participants diagnosed with supernumerary teeth, one supernumerary tooth was found in 80.8% of children/adolescents, while 19.2% had two supernumerary teeth. The vast majority of supernumerary teeth were impacted (92.3%), and their morphology in 57.7% of cases was conical. A total of 38.5% of cases had normal orientation, 26.9% inverted orientation, 19.2% horizontal orientation, and 15.4% other. The localization was palatal in 84.6%, and the area of localization for 50% of cases was the midline. Conclusions: The prevalence of supernumerary teeth in the studied sample of Greek children and adolescents was 11.6% and tended to appear as single, impacted, conical, and with normal orientation. However, these results should be interpreted with caution, due to the limitations in the sampling strategy and the restricted generalizability of this study. The need for further research to enhance broader applicability for different populations is highlighted. These findings are instrumental for a more comprehensive understanding of the prevalence of supernumerary teeth, contributing to more accurate and individualized dental treatment planning in children and adolescents. This will help to avoid future issues in the patient’s dentition. Full article

Background/Objectives: This study analyzes the impact of PFAPA syndrome (periodic fever, aphthous stomatitis, pharyngitis, and adenitis) on health-related quality of life (HRQoL) and the psychological functioning of children and adolescents aged 2 to 1 years. Methods: A cross-sectional descriptive study was conducted with 62 participants (31 males and 31 females) diagnosed with PFAPA. The Strengths and Difficulties Questionnaire (SDQ) and the Family Impact Module scale of Pediatric Quality of Life Inventory (PedsQL) were used to assess psychological functioning and HRQoL, respectively. Results: Participants exhibited predominantly low HRQoL, particularly in physical health and emotional functioning. School functioning was also affected. However, social functioning and family relationships showed more favorable scores. A positive correlation was observed between age and emotional symptoms. Family concern was the most significantly impacted aspect. Conclusions: PFAPA syndrome has a significant impact on the HRQoL of affected children and adolescents, particularly in physical and emotional aspects. A holistic approach is necessary for disease management, considering not only physical symptoms but also psychosocial and academic factors, as well as the impact on the family. Full article