Journal Description
Pediatric Reports
Pediatric Reports
is an international, scientific, peer-reviewed open access journal on all aspects of pediatrics, published bimonthly online by MDPI (from Volume 12 Issue 3 - 2020). The Italian Society of Pediatric Psychology (SIPPed) is affiliated with Pediatric Reports and the members receive discounts of the article processing charge.
- Open Access— free for readers, with article processing charges (APC) paid by authors or their institutions.
- High Visibility: indexed within Scopus, ESCI (Web of Science), PubMed, PMC, Embase, and other databases.
- Rapid Publication: manuscripts are peer-reviewed and a first decision is provided to authors approximately 30.4 days after submission; acceptance to publication is undertaken in 4.9 days (median values for papers published in this journal in the first half of 2025).
- Recognition of Reviewers: APC discount vouchers, optional signed peer review, and reviewer names published annually in the journal.
Impact Factor:
1.4 (2024);
5-Year Impact Factor:
1.2 (2024)
Latest Articles
Multisystem Infantile Hemangiomatosis with Cutaneous, Hepatic, and Splenic Involvement
Pediatr. Rep. 2025, 17(5), 102; https://doi.org/10.3390/pediatric17050102 - 3 Oct 2025
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Background: Hemangiomatosis is a rare condition characterized by the presence of multiple benign vascular tumors that may affect various organs, including the skin, liver, and spleen. Complications are closely linked to the location and size of the lesions. Case Presentation: We describe a
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Background: Hemangiomatosis is a rare condition characterized by the presence of multiple benign vascular tumors that may affect various organs, including the skin, liver, and spleen. Complications are closely linked to the location and size of the lesions. Case Presentation: We describe a rare presentation of infantile hemangiomatosis with widespread cutaneous and oral mucosal lesions, further complicated by splenic and hepatic involvement and secondary cholestasis. The initial progression was unfavorable, with an increase in both the number and size of the lesions. Cardiologic evaluation identified minor valvular insufficiencies, but no secondary cardiac failure. Treatment with propranolol and prednisone was initiated, with a slow favorable evolution. There were no new hemangiomas developed, and those on the face and limbs decreased in size, some disappearing entirely. Hepatic and splenic hemangiomas regressed more slowly, but their reduction and the improvement of cholestasis were progressive. Due to significant iatrogenic Cushing’s syndrome, prednisone was gradually tapered. Transient subclinical hypothyroidism occurred during treatment, resolving spontaneously. Conclusions: The present case illustrates the rarity and complexity of multifocal infantile haemangiomatosis and highlights the importance of early diagnosis, comprehensive organ evaluation, and tailored multidisciplinary management. It clearly demonstrates that prompt intervention and careful therapy adjustment can lead to favorable outcomes even in the setting of extensive visceral involvement.
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Open AccessCase Report
Extremely Premature Infant and Digestive Malformations: Case Report of Atypical Postoperative Journeys
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Elena Roxana Matran, Alexandru Dinulescu, Ana Prejmereanu, Oana-Alexandra Peta, Radu-Ioan Tiron and Mirela Luminița Pavelescu
Pediatr. Rep. 2025, 17(5), 101; https://doi.org/10.3390/pediatric17050101 - 1 Oct 2025
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Background and Clinical Significance: Extremely premature infants face complex medical challenges requiring comprehensive multidisciplinary care. Gastrointestinal malformations, while rare, pose significant diagnostic and therapeutic challenges in this vulnerable population. Case Presentation: We report a case of an extremely premature infant born at 26
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Background and Clinical Significance: Extremely premature infants face complex medical challenges requiring comprehensive multidisciplinary care. Gastrointestinal malformations, while rare, pose significant diagnostic and therapeutic challenges in this vulnerable population. Case Presentation: We report a case of an extremely premature infant born at 26 weeks gestation with very low birth weight (950 g) who developed a digestive pathology rarely encountered in neonatal intensive care: microcolon, which required surgical consultation and intervention, followed by an atypical postoperative course. Conclusions: The early recognition of gastrointestinal malformations in extremely premature infants requires high clinical suspicion and prompt multidisciplinary intervention. Despite complex postoperative course, favorable outcomes are achievable with coordinated care.
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Open AccessCase Report
Life-Threatening Noninfectious Complications of Peritoneal Dialysis in an Infant with End-Stage Kidney Disease
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Chao-Ting Teng, Yi-Hsuan Tang, Hsin-Hui Wang, Yu-Sheng Lee, Chin-Su Liu, Pei-Chen Tsao, Meei-Chyi Guo, Hui-Lan Chen and Chien-Hung Lin
Pediatr. Rep. 2025, 17(5), 100; https://doi.org/10.3390/pediatric17050100 - 1 Oct 2025
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Background: Noninfectious complications of peritoneal dialysis (PD) are common in infants. Mechanical dysfunctions with abdominal compartment syndrome, hydrothorax with respiratory failure, and medication-induced chyloperitoneum are rare during PD. In this case report, we aim to present several life-threatening events and the timely
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Background: Noninfectious complications of peritoneal dialysis (PD) are common in infants. Mechanical dysfunctions with abdominal compartment syndrome, hydrothorax with respiratory failure, and medication-induced chyloperitoneum are rare during PD. In this case report, we aim to present several life-threatening events and the timely management of a PD infant. Case Presentation: This male infant is a case of infantile nephronophthisis, NPHP3/renal-hepatic–pancreatic dysplasia type 1, with end-stage kidney disease, and he received PD therapy at 4 months of age. Because of the young age with low body weight and hepatosplenomegaly with a limited abdominal cavity, intra-abdominal pressure-associated noninfectious complications frequently occurred. Acute respiratory failure with abdominal dullness was detected at 5 months of age. Abdominal compartment syndrome caused by PD catheter outflow obstruction from omental wrapping was diagnosed via laparoscopic revision surgery. Hyperkalemia, decreased PD drainage volume, and sudden respiratory distress occurred at 10 months old. Hydrothorax due to pleuroperitoneal communication was confirmed by scintigraphy. After thoracoscopic diaphragmatic bleb repair and plication surgery were performed, no recurrence of hydrothorax was observed. Calcium channel blocker-induced chyloperitoneum was observed at 13 months of age. Chylous ascites disappeared after tapering off the calcium channel blocker in 3 days. After the patient grew up with a larger peritoneal cavity, no more pressure-associated complications of PD occurred. Conclusions: The key to successful treatment of rare and life-threatening noninfectious complications of PD in young infants lies in early detection and timely intervention. A limited abdominal cavity is not a contraindication for PD therapy, especially in very young infants with low body weight, because hemodialysis is not a choice of long-term dialysis modality.
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Open AccessArticle
Use of Technological Devices in Children Aged 3–11 Years: Possible Effects on Sleep and Behavioral Difficulties
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Marta Tremolada, Roberta Maria Incardona, Sabrina Bonichini and Livia Taverna
Pediatr. Rep. 2025, 17(5), 99; https://doi.org/10.3390/pediatric17050099 - 29 Sep 2025
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Background: The use of technological devices by children has increased in recent years, as several Italian studies have shown, even if limited studies assessed the possible effects on sleep and psychological wellbeing in preschool and schoolchildren. Objectives: This cross-sectional study seeks to examine
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Background: The use of technological devices by children has increased in recent years, as several Italian studies have shown, even if limited studies assessed the possible effects on sleep and psychological wellbeing in preschool and schoolchildren. Objectives: This cross-sectional study seeks to examine the prevalence and typology of usage, as well as the potential socio-demographic factors associated with it. Additionally, it aims to assess emotional behavior and sleeping difficulties, and their possible correlations with children’s attitudes towards technological devices. Methods: The study included 314 children (52.2% males), with an average age of 7.86 years (SD = 2.02) and mainly their mothers (80.2%). Participants were given a series of self- and proxy-report questionnaires about the digital age, type of activities, hours of sleep, and their behavioral/emotional difficulties (CBCL and SDQ questionnaires). The analyses were descriptive and correlational because of the explorative nature of this study. Results: Parents declared tablets as the device most used by children (49.8%), with an average daily use time of 22.86 min (SD = 33.62). Their digital starting age was on average 5.91 years (SD = 2.25) with mostly recreational activities (Mean = 3.15; SD = 0.72). Parents and children agreed on the time spent with the technological devices reports, while they discorded on the means of creative activities use (t109 = −8.86; p < 0.001), with children reporting a higher frequency (M = 2.45; SD = 0.69) than their parents (M = 1.89; SD = 0.76). The tablet time was significantly different by gender (t309 = −2.34; p = 0.02), with boys using tablets for a longer mean time than girls (27.8 versus 18.22) and having more ADHD problems (t312 = −3.11; p = 0.002; 2.68 versus 1.74). Parents declared an average of 9.55 (SD = 0.55) hours of sleep per night for their children. A significant correlation was found between PC usage time and sleep hours duration (r = −0.13; p = 0.019). The frequency of tablet use was correlated with both the Behavioral Problems Scale (r = 0.15; p = 0.010) and the ADHD Scale (r = 0.11; p = 0.049). Conclusions: Based on these empirical results, preventive programmes and educational activities should be established.
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(This article belongs to the Special Issue Mental Health and Psychiatric Disorders of Children and Adolescents)
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Open AccessArticle
Measuring Vitality and Depletion During Adolescence: Validation of the Subjective Vitality/Subjective Depletion Scale in a Sample of Italian Students
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Giulia Raimondi, Michele Zacchilli, Christina M. Frederick, Fabio Alivernini, Sara Manganelli, Elisa Cavicchiolo, Fabio Lucidi, Tommaso Palombi, Andrea Chirico and James Dawe
Pediatr. Rep. 2025, 17(5), 98; https://doi.org/10.3390/pediatric17050098 - 25 Sep 2025
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Background/Objectives: Adolescence is a critical developmental phase marked by rapid cognitive, emotional, and social changes that influence how individuals experience psychological energy and exhaustion. Self-Determination Theory recently proposed a dual-process model, based on two distinct, yet related, constructs: Subjective Vitality, associated with
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Background/Objectives: Adolescence is a critical developmental phase marked by rapid cognitive, emotional, and social changes that influence how individuals experience psychological energy and exhaustion. Self-Determination Theory recently proposed a dual-process model, based on two distinct, yet related, constructs: Subjective Vitality, associated with well-being and positive health outcomes, and Subjective Depletion, associated with illbeing and negative emotions. Since, to date, no study has investigated vitality and depletion during adolescence, this study aims to validate the Subjective Vitality/Depletion Scale (SVDS) in a large sample of adolescents. Methods: A total of 1111 Italian adolescents (Mage = 14.49, SDage = 1.49; 48% females) completed the SVDS and other validated self-report measures. Specifically, the psychometric properties of the SVDS across biological sex and age groups and latent mean differences across these groups were assessed. Results: Findings supported the dimensionality of the SVDS with two correlated factors, and its construct validity through associations with positive and negative affect and basic psychological needs satisfaction. Full invariance for the SVDS was achieved across biological sex and age groups. Latent mean analyses indicated that males reported higher levels of vitality compared to females (Cohen’s d = 0.46), with no significant differences for depletion; older adolescents reported lower levels of vitality (d = −0.23) and higher levels of depletion (d = 0.20) compared to younger adolescents. Conclusions: These findings support the SVDS as a valid and reliable instrument for assessing energy-related experiences in adolescence. The results suggest meaningful sex differences and a potential developmental trend of declining subjective energy from early to later adolescence.
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(This article belongs to the Section Pediatric Psychology)
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Open AccessArticle
Parent but Not Peer Attachment Mediates the Relations Between Childhood Poverty and Rural Adolescents’ Internalizing Problem Behaviors
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Qingfang Song, Sara S. Whipple, Stacey N. Doan, Rochelle C. Cassells and Gary W. Evans
Pediatr. Rep. 2025, 17(5), 97; https://doi.org/10.3390/pediatric17050097 - 17 Sep 2025
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Objectives: The purpose of this study was to examine the prospective, longitudinal relations among childhood poverty and rural adolescents’ internalizing and externalizing problem behaviors, and the mediational roles of adolescent attachment to parents and peers. Methods: Participants were from a longitudinal study of
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Objectives: The purpose of this study was to examine the prospective, longitudinal relations among childhood poverty and rural adolescents’ internalizing and externalizing problem behaviors, and the mediational roles of adolescent attachment to parents and peers. Methods: Participants were from a longitudinal study of rural poverty. Two home visits were conducted, roughly four years apart (Time 1: N = 226; Mage = 13.36, 52.7% male; Time 2: N = 215; Mage = 17.47 years, 51.2% male). Each family’s income-to-needs ratio was assessed at each visit. At Time 2, participants completed questionnaires reporting their attachments to parents and peers, and their externalizing and internalizing symptoms. Results: Parent attachment was found to mediate the relationship between Time 1 family income-to-needs ratio and Time 2 internalizing problems. The mediational effects of peer attachment predicting Time 2 internalizing or externalizing symptoms were not significant. Conclusions: The long-term impact of childhood poverty on adolescents’ parent attachment and their well-being is discussed.
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Open AccessCase Report
An Infant Autopsy Case of Acute Appendicitis with Lymphoid Hyperplasia
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Momoka Tanabe, Kazuho Maeda, Hikaru Kuninaka, Moe Mukai, Noriko Ogawa, Ayako Nasu, Chiaki Fuke, Yosuke Usumoto and Yoko Ihama
Pediatr. Rep. 2025, 17(5), 96; https://doi.org/10.3390/pediatric17050096 - 17 Sep 2025
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Acute appendicitis is a common cause of acute abdominal pain but is rare in infants because of anatomical and physiological characteristics that reduce the risk of the luminal obstruction of the appendix. However, when it occurs in infants, it is often difficult to
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Acute appendicitis is a common cause of acute abdominal pain but is rare in infants because of anatomical and physiological characteristics that reduce the risk of the luminal obstruction of the appendix. However, when it occurs in infants, it is often difficult to diagnose clinically and may progress rapidly to a fatal outcome. We report a forensic autopsy case of an 11-month-old infant who died 2 d after developing fever and decreased oral intake, without antemortem diagnosis. Autopsy revealed fibrinous ascitic fluid and an edematous, dark-red appendix with fibrin deposits, but no macroscopic luminal obstruction or perforation. Histopathological examination showed diffuse inflammatory cell infiltration and hemorrhage across all layers of the middle and peripheral portions of the appendix, along with lymphoid hyperplasia in the middle portion. Intestinal bacteria were detected in the ascitic fluid. The cause of death was identified as acute appendicitis with subsequent generalized peritonitis. Although luminal obstruction is a common cause of appendicitis, it was not observed macroscopically in this case. However, histopathological findings suggested that lymphoid hyperplasia in the middle portion of the appendix caused luminal narrowing and impaired circulation in the appendiceal wall, triggering appendicitis. This case demonstrates that infantile appendicitis can be fatal even without perforation and highlights the potential role of lymphoid hyperplasia in the pathogenesis. It also underscores the importance of considering appendicitis in the differential diagnosis of infants with nonspecific symptoms and illustrates the value of postmortem histopathological investigation in elucidating the disease mechanism.
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Open AccessCase Report
Respiratory Syncytial Virus Infection in Children with Acute Lymphoblastic Leukemia (ALL): A Contemporary Emerging and Struggling Clinical Event
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Marta Arrabito, Emanuela Cannata and Luca Lo Nigro
Pediatr. Rep. 2025, 17(5), 95; https://doi.org/10.3390/pediatric17050095 - 17 Sep 2025
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Systemic viral infections are frequently life-threatening in immunocompromised children. Many viral pathogens are reported to be the cause of morbidity and mortality in these pediatric patients, but scarce evidence is related to respiratory syncytial virus infection (RSV), which is one of the main
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Systemic viral infections are frequently life-threatening in immunocompromised children. Many viral pathogens are reported to be the cause of morbidity and mortality in these pediatric patients, but scarce evidence is related to respiratory syncytial virus infection (RSV), which is one of the main viral causes of lower respiratory tract infection in infants and young children. Herein we report the experience of the Center of Pediatric Hematology Oncology of Catania regarding RSV infection in pediatric leukemia patients, describing four cases: three with only respiratory involvement and complete recovery (two of them presented mild symptoms and one evolved into severe respiratory failure) and a fourth case with an initial hepatic and pulmonary involvement leading to death. Unfortunately, some viral infections have delayed diagnoses because of lack of awareness and atypical presentation. Therefore, our intent is to highlight the importance of mindfulness of the occurrence of this infection and of its typical and atypical manifestations in order to detect it early and decrease the risk of morbidity and mortality.
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Open AccessCase Report
Case Report of Salmonella and HHV-6 Meningitis in an Infant
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Sara Abed, Tahani Asiri, Razan Alzahrani and Wujud Hunjur
Pediatr. Rep. 2025, 17(5), 94; https://doi.org/10.3390/pediatric17050094 - 15 Sep 2025
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Bacterial meningitis is one of the most serious infections. Salmonella meningitis is associated with a high prevalence of long-term adverse outcomes, often linked to acute complications and a broad range of potential neurological sequelae following the infection. Acute complications such as brain abscesses
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Bacterial meningitis is one of the most serious infections. Salmonella meningitis is associated with a high prevalence of long-term adverse outcomes, often linked to acute complications and a broad range of potential neurological sequelae following the infection. Acute complications such as brain abscesses and chronic complications such as hearing loss and developmental delay. In this report, we present a case of a 2-month-old male patient with seizures, hypoactivity and respiratory symptoms, who was found to have Salmonella bacteremia complicated by Salmonella and Human Herpes Virus-6 (HHV-6) meningitis, as well as rhinovirus bronchiolitis, along with follow-up findings. The patient’s data, including demographics, presenting symptoms, physical examination findings, and whole exome sequence results, as well as investigations such as complete blood count (CBC), cerebrospinal fluid (CSF) analysis, liver enzyme levels, and imaging findings, were collected from the electronic medical record system using a case report form. In addition, immunological workups were performed, as serious Salmonella infections were more common in immunocompromised patients. In the literature, there was no clear correlation between Salmonella and HHV-6 meningitis, rhinovirus bronchiolitis, and the complications that developed in this infant. This case report provides valuable insights into the clinical spectrum and long-term outcomes of patients with Salmonella meningitis.
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Open AccessArticle
Alarmin Levels and Gastroesophageal Reflux Disease in Children: Significant Elevation of Thymic Stromal Lymphopoietin
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Ola Sobieska-Poszwa, Szymon Suwała, Aneta Mańkowska-Cyl and Aneta Krogulska
Pediatr. Rep. 2025, 17(5), 93; https://doi.org/10.3390/pediatric17050093 - 15 Sep 2025
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Background/Objectives: In children, gastroesophageal reflux disease (GERD) may lead to epithelial barrier dysfunction and the release of thymic stromal lymphopoietin (TSLP), interleukin-25 (IL-25), interleukin-33 (IL-33) and periostin, known as alarmins. These cytokines are associated with type 2 inflammation and may contribute to
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Background/Objectives: In children, gastroesophageal reflux disease (GERD) may lead to epithelial barrier dysfunction and the release of thymic stromal lymphopoietin (TSLP), interleukin-25 (IL-25), interleukin-33 (IL-33) and periostin, known as alarmins. These cytokines are associated with type 2 inflammation and may contribute to respiratory and allergic conditions. The main purpose of this study is to evaluate serum concentrations of TSLP, IL-25, IL-33, and periostin in children with and without GERD and to assess their relationships with bronchial hyperresponsiveness (BHR) and sensitization to inhaled allergens. Methods: The study included 93 children aged 7–17 years. GERD was diagnosed based on 24-h esophageal pH impedance monitoring. Serum levels of TSLP, IL-25, IL-33, and periostin were measured using enzyme-linked immunosorbent assay (ELISA). It should be noted that the assay used does not distinguish between TSLP isoforms, which represents a limitation of the study. BHR was assessed via a methacholine challenge test, and allergen sensitization was determined using skin prick tests and allergen-specific immunoglobulin E (asIgE). Results: Serum TSLP levels were significantly higher in children with GERD compared to those without, whereas IL-25, IL-33 and periostin did not differ notably between groups. Periostin was associated with the degree of sensitization to inhalant allergens, but no significant links were found between cytokine levels and bronchial hyperresponsiveness. Conclusions: Significantly higher TSLP levels were noted in children with GERD than in those without. Hence, TSLP may have a potential role as a biomarker of epithelial immune activation in pediatric GERD. In addition, periostin was associated with sensitization to inhalant allergens, although it did not differentiate between children with and without GERD.
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Open AccessCase Report
Potential Benefits of a Noninvasive Neuromodulation Protocol in Autism Spectrum Disorder with Multiple Comorbidities: A Case Report
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Clarissa Aires de Oliveira, Eugenio Luigi Iorio and Foued Salmen Espíndola
Pediatr. Rep. 2025, 17(5), 92; https://doi.org/10.3390/pediatric17050092 - 12 Sep 2025
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This case report describes a patient (male, 10 years old) with Autism Spectrum Disorder (ASD) and multiple comorbidities, including epilepsy, gastrointestinal and sleep disturbances, and obesity. Whole-exome sequencing (WES) identified two variants of uncertain significance (VUS) in the GRID2 gene. Mutations in this
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This case report describes a patient (male, 10 years old) with Autism Spectrum Disorder (ASD) and multiple comorbidities, including epilepsy, gastrointestinal and sleep disturbances, and obesity. Whole-exome sequencing (WES) identified two variants of uncertain significance (VUS) in the GRID2 gene. Mutations in this gene are associated with spinocerebellar ataxia type 18 (SCA18). However, this finding did not correlate with the clinical presentation of the patient. This study evaluates the effects of Radio Electric Asymmetric Conveyer (REAC) stimulation on the cognitive–behavioral dysfunctions of a child with severe ASD and multiple comorbidities. Two stimulation protocols—Neuro Postural Optimization (NPO) and Neuro Psychophysical Optimization (NPPO)—and REAC were performed sequentially. After five weeks of treatment, a 34.9% reduction in total scores on the Autism Treatment Evaluation Checklist (ATEC) and an 8.2% on the Autism Behavior Checklist (ABC) were observed. Assessment of the severity of ASD symptoms using the Childhood Autism Rating Scale (CARS) tool showed less pronounced improvement. The REAC intervention yielded a reduction in Social Relating impairment and an improvement in Sensory/Cognitive Awareness. Further research in this area should employ extended REAC protocols to replicate and amplify clinical responses among individuals with ASD.
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(This article belongs to the Special Issue Mental Health and Psychiatric Disorders of Children and Adolescents)
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Open AccessArticle
The Diversity of Developmental Age Gynecology—Selected Issues
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Ewa Majcherek, Justyna Jaskulska, Michalina Drejza, Katarzyna Plagens-Rotman, Karina Kapczuk, Witold Kędzia, Maciej Wilczak, Magdalena Pisarska-Krawczyk, Małgorzata Mizgier, Justyna Opydo-Szymaczek, Julia Linke, Małgorzata Wójcik and Grażyna Jarząbek-Bielecka
Pediatr. Rep. 2025, 17(5), 91; https://doi.org/10.3390/pediatric17050091 - 8 Sep 2025
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Background/Objectives: Pediatric and adolescent gynaecology addresses the distinct developmental needs of the reproductive systems of young patients. Diagnosing and treating gynaecological issues in this age group are challenging due to overlapping symptoms and the developmental stage. This study aimed to identify common gynecological
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Background/Objectives: Pediatric and adolescent gynaecology addresses the distinct developmental needs of the reproductive systems of young patients. Diagnosing and treating gynaecological issues in this age group are challenging due to overlapping symptoms and the developmental stage. This study aimed to identify common gynecological issues based on retrospective analysis of medical documentation from the Developmental Gynecology and Sexology Laboratory of the Gynecology Clinic, Department of Gynecology, Poznan University of Medical Sciences (UMP) from the years 2012–2023. Methods: The study involved 4942 patients under 18 years old. Medical records from the years 2012–2023 were analyzed, focusing on the most frequent diagnoses. Statistical analyses were performed using StatSoft STATISTICA PL 10 software, with a significance threshold of p < 0.05. Results: The most frequent diagnosis was pelvic pain syndrome (77.8%), followed by androgenization syndromes (13.2%). While the number of admissions remained stable over the years (r = 0.131, p > 0.05), there was a significant increase in the percentage of androgenization syndromes (p = 0.0040) and a decrease in pelvic pain syndrome cases (p = 0.0018). Other conditions such as eating disorders and psychosexual issues were also prevalent, highlighting the need for a multidisciplinary approach. Conclusions: The analysis indicates a shift in adolescent gynaecological diagnoses over time, with pelvic pain syndrome decreasing and androgenization syndromes increasing. The findings underline the importance of specialised, multidisciplinary care and further research to adapt diagnostic and therapeutic strategies to the changing landscape of pediatric gynaecology.
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Open AccessCase Report
Congenital Glucose–Galactose Malabsorption Presenting as Hypertriglyceridemia and Medullary Nephrocalcinosis
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Malika Goel, Renu Suthar and Lesa Dawman
Pediatr. Rep. 2025, 17(5), 90; https://doi.org/10.3390/pediatric17050090 - 5 Sep 2025
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A 4-month-old male child was admitted with failure to thrive, persistent osmotic diarrhea, and presence of multiple metabolic abnormalities, which included hypertriglyceridemia, hypercholesterolemia, hypercalcemia, and medullary nephrocalcinosis. He was diagnosed with congenital glucose–galactose malabsorption (CGGM). The exome analysis showed presence of pathogenic mutation
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A 4-month-old male child was admitted with failure to thrive, persistent osmotic diarrhea, and presence of multiple metabolic abnormalities, which included hypertriglyceridemia, hypercholesterolemia, hypercalcemia, and medullary nephrocalcinosis. He was diagnosed with congenital glucose–galactose malabsorption (CGGM). The exome analysis showed presence of pathogenic mutation in exon 8 of the SLC5A1 gene (c875G>A, p.Cys292Tyr). This gene codes for a sodium–glucose cotransporter called SGLT1. To date, no clinical case reports have reported hypertriglyceridemia and hypercholesterolemia with CGGM. Hypercalcemia and medullary nephrocalcinosis have also been reported only in a handful of CGGM cases worldwide. Through this case, the authors attempt to highlight the uncommon manifestation of this rare disease to facilitate timely management. Although the child died due to healthcare-associated infection (HCAI), pre-natal counseling of the family was carried out for the management of future pregnancies.
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Open AccessCase Report
A Rare Tetrad of Sickle Cell Disease, Vascular Ehlers–Danlos Syndrome, Primary Ciliary Dyskinesia, and Phelan–McDermid Syndrome in a Saudi Child: A Complex Multisystem Pediatric Case Report
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Gassem Gohal
Pediatr. Rep. 2025, 17(5), 89; https://doi.org/10.3390/pediatric17050089 - 4 Sep 2025
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Background: The coexistence of sickle cell disease (SCD), vascular Ehlers–Danlos syndrome (vEDS), primary ciliary dyskinesia (PCD), and Phelan–McDermid syndrome (PMS) in a single pediatric patient is extremely rare and poses substantial diagnostic and management challenges. Case presentation: We report an 8-year-old male from
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Background: The coexistence of sickle cell disease (SCD), vascular Ehlers–Danlos syndrome (vEDS), primary ciliary dyskinesia (PCD), and Phelan–McDermid syndrome (PMS) in a single pediatric patient is extremely rare and poses substantial diagnostic and management challenges. Case presentation: We report an 8-year-old male from Jazan, Saudi Arabia, born to consanguineous parents, with early-onset SCD, followed by the identification of vEDS, PCD, and PMS through clinical presentation and whole exome sequencing. His disease course has been exceptionally severe, marked by monthly hospitalizations, multiple PICU admissions, and a wide spectrum of systemic complications. Conclusions: The coexistence of SCD, vEDS, PCD, and PMS may lead to synergistic vascular, pulmonary, and neurodevelopmental compromise, demanding multidisciplinary long-term management. This case underscores the need for a comprehensive targeted genetic assessment in patients with unusually aggressive or syndromic SCD phenotypes, particularly in regions with high levels of consanguineous marriages.
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Open AccessArticle
Caregiver Socio-Economic Factors and Perceived Effectiveness of Care Delivery in Relation to US Adolescent Vision Care: A Retrospective Analysis from a National Database
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Erik Miron, Nada Eldawy, Ayden Dunn, Austin Lent and Lea Sacca
Pediatr. Rep. 2025, 17(5), 88; https://doi.org/10.3390/pediatric17050088 - 31 Aug 2025
Abstract
Objective: The objective of this retrospective cross-sectional study is to explore how caregiver social determinants of health, appraisal of healthcare provider effectiveness, and insurance coverage influence caregiver ability to have their adolescent child access vision care, including completion of annual vision screening, visiting
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Objective: The objective of this retrospective cross-sectional study is to explore how caregiver social determinants of health, appraisal of healthcare provider effectiveness, and insurance coverage influence caregiver ability to have their adolescent child access vision care, including completion of annual vision screening, visiting an ophthalmologist or optometrist, and completion of recommended additional screenings. Study Design: We used National Survey of Children’s Health (NSCH) data for 12–17-year-old adolescents for the years 2022 and 2023 (n = 37,425). Summary statistics for the selected sample were generated and binary logistic regressions were conducted. Outcome variables were the type of vision screening that occurred or not. Covariates were socioeconomic and demographic data of the adolescent’s primary caregiver. Independent variables were insurance coverage and healthcare provider’s skill and effectiveness. Results: Significant associations were reported between visiting an ophthalmologist or optometrist and each of spending enough time with patients; listening carefully to patients; and making patients feel like care is a partnership. Additionally, significant associations were reported between insurance coverage and both successful completion of vision screening and visiting an eye doctor. Conclusions: This study underscores the substantial impact of effectiveness of eye doctors in delivering annual vision exams and insurance adequacy on adolescent vision care engagement. Our results will inform the development of future evidence-based educational interventions to raise awareness on the importance of annual vision screenings in US adolescents and emphasize the need for screening mandates to advocate for this important public health issue.
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Open AccessCase Report
Hyperventilation Syndrome in a Child: Electrolyte Disturbances and Cardiac Involvement in Anxiety-Related Presentations
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Andrea Calandrino, Anna Carla Defilippi, Gemma Eftimiadi, Luca Antonio Ramenghi and Diego Minghetti
Pediatr. Rep. 2025, 17(5), 87; https://doi.org/10.3390/pediatric17050087 - 29 Aug 2025
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Background: Hyperventilation Syndrome (HVS) is a well-recognized physiological consequence of acute anxiety, often resulting in respiratory alkalosis and subsequent electrolyte imbalances. Among these, a reduction in ionized calcium levels can lead to neuromuscular irritability and electrocardiographic abnormalities such as QTc prolongation. Although well-documented
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Background: Hyperventilation Syndrome (HVS) is a well-recognized physiological consequence of acute anxiety, often resulting in respiratory alkalosis and subsequent electrolyte imbalances. Among these, a reduction in ionized calcium levels can lead to neuromuscular irritability and electrocardiographic abnormalities such as QTc prolongation. Although well-documented in specific settings, including autism spectrum disorders and drug-induced crises, such complications are rarely described in otherwise healthy pediatric patients presenting with isolated anxiety episodes. This report aims to raise awareness of anxiety-driven somatic manifestations, particularly in the context of the rising prevalence of mental health disorders among children and adolescents. Methods: We report the case of a previously healthy 10-year-old girl presenting to the emergency department with acute agitation and hyperventilation. Clinical examination revealed neuromuscular symptoms, including Trousseau’s sign and flexion posture. Initial laboratory testing and arterial blood gas analysis indicated respiratory alkalosis with decreased ionized calcium levels, and a resting ECG showed QTc prolongation (510 ms). Treatment included intravenous midazolam, a balanced electrolyte solution, and oral bromazepam during intensive observation with cardiac monitoring. Results: The patient’s symptoms progressively improved following anxiolytic and supportive therapy. Electrolyte abnormalities normalized within 48 h, with complete resolution of the prolonged QTc (430 ms). No arrhythmias or other complications occurred. Outpatient psychological follow-up was arranged upon discharge. Conclusions: This case underscores the importance of considering anxiety as a primary etiology in pediatric patients with apparent metabolic or cardiac abnormalities. Early psychiatric recognition and targeted supportive care can prevent overtreatment and reduce the burden on emergency and cardiologic resources.
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(This article belongs to the Special Issue Mental Health and Psychiatric Disorders of Children and Adolescents)
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Open AccessCase Report
Case Report of a Neonate with Severe Perinatal Asphyxia: A Multidisciplinary Approach Involving Therapeutic Hypothermia and Physiotherapy
by
Marcelina Powązka, Maciej Grzeszczuk, Tatiana Jagodzińska, Ewa Syweńki, Rita Suchanska and Ewa Gieysztor
Pediatr. Rep. 2025, 17(4), 86; https://doi.org/10.3390/pediatric17040086 - 11 Aug 2025
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Hypoxic–ischaemic encephalopathy (HIE), a leading cause of perinatal mortality and neurological impairment, affects 1–8/1000 live births in developed countries. Therapeutic hypothermia (TH), the standard treatment for moderate to severe HIE, reduces brain injury by lowering metabolic demand and inhibiting apoptosis. This case study
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Hypoxic–ischaemic encephalopathy (HIE), a leading cause of perinatal mortality and neurological impairment, affects 1–8/1000 live births in developed countries. Therapeutic hypothermia (TH), the standard treatment for moderate to severe HIE, reduces brain injury by lowering metabolic demand and inhibiting apoptosis. This case study presents a full-term female newborn delivered via caesarean section due to intrauterine asphyxia, with meconium aspiration syndrome and severe HIE (Apgar 0/0/0/2). Notwithstanding the presence of multiorgan failure and grade II intraventricular haemorrhage, TH was initiated within six hours. The patient received circulatory and respiratory support, sedation, and nitric oxide. Early rehabilitation was initiated immediately. Neurofunctional assessment using the TIMP test revealed initial delays (16–25th percentile) at 11 weeks of age; however, the subsequent two evaluations, conducted approximately every two weeks, indicated that the patient was within normal developmental ranges. A similar outcome was observed in the AIMS assessment conducted at seven months of age, which also yielded normal results. Despite MRI findings post-TH showing hypoxic and haemorrhagic lesions, the patient achieved normal development. This case demonstrates the effectiveness of combining TH with early physiotherapy in mitigating severe consequences of HIE, such as cerebral palsy and epilepsy. Long-term follow-up remains crucial for detecting later deficits, particularly during school age. The outcome of this case underscores the significance of timely intervention and multidisciplinary care. While TH and rehabilitation have been shown to improve prognosis, ongoing monitoring is crucial to ensure optimal neurological development trajectories.
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Open AccessArticle
Percentile Distribution of Habitual-Correction Visual Acuity in a Sample of 1500 Children Aged 5 to 15 Years in Italy
by
Alessio Facchin, Marilena Mazzilli and Silvio Maffioletti
Pediatr. Rep. 2025, 17(4), 85; https://doi.org/10.3390/pediatric17040085 - 11 Aug 2025
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Background: Early identification of visual disorders in children is essential to prevent long-term visual impairment and support academic development. Despite the recognized importance of visual screenings, no universal consensus exists on which visual parameters or threshold values should be used, particularly for measuring
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Background: Early identification of visual disorders in children is essential to prevent long-term visual impairment and support academic development. Despite the recognized importance of visual screenings, no universal consensus exists on which visual parameters or threshold values should be used, particularly for measuring visual acuity (VA) in pediatric populations. Objectives: This study aimed to develop age-related percentile norms for VA using LEA symbol charts. Methods: A sample of Italian schoolchildren aged 5 to 15 years (n = 1510) participated in the study. Data were collected retrospectively from school-based vision screenings conducted across 12 schools in the Lombardy and Piedmont regions from 2010 to 2019. Monocular and binocular VA were measured at 3 m using a standardized LEA symbol chart, and values were scored letter-by-letter on a LogMAR scale. Smoothed percentile curves were derived using Box–Cox, Cole, and Green distribution modeling and regression analysis. Results: The results showed a non-linear improvement in VA with age. Compared to prior studies, LEA symbols yielded slightly lower VA scores, reinforcing the need for chart-specific norms. The 50th percentile VA improved from approximately +0.07 LogMAR at age 6 to about −0.09 LogMAR at age 15. Conclusions: These findings highlight the importance of age-specific, chart-specific, and statistically robust reference data for VA screening in children. The derived percentile tables offer a more sensitive tool than fixed cut-offs for identifying visual anomalies and tailoring clinical interventions. This work contributes to standardizing pediatric VA screening practices and improving early detection of visual deficits.
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Open AccessCase Report
A Rare Case of Aortic Dissection 10 Years Post Percutaneous Catheterization Retrieval of an Embolized PDA Device in a Patient with Down Syndrome
by
Youna Park, Hong Ryang Kil, Sang Yoon Kim and Geena Kim
Pediatr. Rep. 2025, 17(4), 84; https://doi.org/10.3390/pediatric17040084 - 8 Aug 2025
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There are no recorded cases of catheter-induced aortic dissection in pediatric patients. We report a unique case of a pediatric patient with Down syndrome who developed a long-standing dissecting aortic aneurysm. The patient underwent successful stent insertion 10 years after experiencing difficulty retrieving
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There are no recorded cases of catheter-induced aortic dissection in pediatric patients. We report a unique case of a pediatric patient with Down syndrome who developed a long-standing dissecting aortic aneurysm. The patient underwent successful stent insertion 10 years after experiencing difficulty retrieving an embolized patent ductus arteriosus device. The Down syndrome presented a complex clinical scenario, making diagnosis challenging due to a lack of cooperation and uncertainty about when the dissection occurred, as symptoms like pain were not reported. Though rare in children, it is vital to recognize procedures such as percutaneous closure of patent ductus arteriosus followed by device retrieval as potential risk factors for aortic dissections in the pediatric population.
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Open AccessArticle
Metabolic Syndrome Prevalence and Its Components in Adolescents from Western Mexico
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Diego Ortega-Pacheco, Roberto Carlos Rosales-Gómez, Teresa Arcelia García-Cobián, Lidia Ariadna Rubio-Chávez, Angélica Adriana Gutiérrez-Rubio, José Hugo Rivera-Ramírez and Susan Andrea Gutiérrez-Rubio
Pediatr. Rep. 2025, 17(4), 83; https://doi.org/10.3390/pediatric17040083 - 8 Aug 2025
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Objective: To evaluate the predictive risk factors associated with the prevalence of metabolic syndrome (MetS) in adolescents from the western region of Mexico. Materials and Methods: An analytical cross-sectional study was conducted with a sample of 516 adolescents. Anthropometric data, blood pressure, and
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Objective: To evaluate the predictive risk factors associated with the prevalence of metabolic syndrome (MetS) in adolescents from the western region of Mexico. Materials and Methods: An analytical cross-sectional study was conducted with a sample of 516 adolescents. Anthropometric data, blood pressure, and biochemical determinations were obtained. The diagnosis of MetS was based on the criteria proposed by de Ferranti in 2004. The triglyceride–glucose index (TyG index) was calculated, where a value >4.68 indicates insulin resistance (IR). Risk factors associated with MetS were evaluated using a logistic regression model. The statistical analysis was performed with the level of statistical significance established was p < 0.05. Results: The MetS prevalence was 17.2% among adolescents. One out of every two adolescents with obesity presented with MetS. Abdominal obesity and dyslipidemia are the most common components. Predictors of MetS included male sex, early adolescence, waist-to-height ratio (WHtR) > 0.5, increased body fat percentage, and TyG Index > 4.68 (IR). In the sex-specific analysis, a WHtR > 0.5 and IR were associated with MetS in female adolescents. In male adolescents, IR and body fat percentage were associated with MetS. The WHtR was associated with IR, and hypertriglyceridemia was associated with elevated alanine aminotransferase. Conclusions: In this study, two out of ten adolescents presented with MetS. In boys, a high prevalence of abdominal obesity, hypoalphalipoproteinemia, insulin resistance and MetS was observed. The risk of developing MetS is greater in preadolescent boys with abdominal obesity, high levels of body fat, and a TyG index > 4.68.
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