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Comparison and Optimization of DNA Extraction Methods for Human DNA from Dried Blood Spot Samples
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Pediatric Wernicke Encephalopathy: A Systematic Review
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Self-Efficacy and Psychological Well-Being in Adolescents: Evaluating the Moderating Role of Socioeconomic Status and Cultural Factors
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Why Do They Do It? The Psychology Behind Antisocial Behavior in Children and Adolescents
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
Potential Benefits of a Noninvasive Neuromodulation Protocol in Autism Spectrum Disorder with Multiple Comorbidities: A Case Report
Pediatr. Rep. 2025, 17(5), 92; https://doi.org/10.3390/pediatric17050092 - 12 Sep 2025
Abstract
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.
Full article
(This article belongs to the Special Issue Mental Health and Psychiatric Disorders of Children and Adolescents)
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
Abstract
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.
Full article
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.
Full article
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
Abstract
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.
Full article
(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
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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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Graphical abstract
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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Open AccessCase Report
Open Reduction and Internal Fixation of a Volar Displaced Salter–Harris III Mallet Fracture in a Pediatric Patient: A Case Report
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Alexander Baur, Taylor Anthony, Keith Lustig and Michael L. Lee
Pediatr. Rep. 2025, 17(4), 82; https://doi.org/10.3390/pediatric17040082 - 6 Aug 2025
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Introduction: Finger injuries are common in pediatric patients and typically heal well with conservative management. However, rare fracture patterns involving significant displacement and physeal injury, such as the one described in this case, require specialized surgical intervention to ensure proper healing and prevent
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Introduction: Finger injuries are common in pediatric patients and typically heal well with conservative management. However, rare fracture patterns involving significant displacement and physeal injury, such as the one described in this case, require specialized surgical intervention to ensure proper healing and prevent long-term complications. Case Presentation: A 12-year-old left-hand-dominant female presented with pain, swelling, and deformity at the distal interphalangeal (DIP) joint following hyperextension of the left fifth digit. Initial radiographs revealed a volar displaced intra-articular fracture with physis involvement, confirmed by computed tomography (CT) imaging. Conservative management with closed reduction and splinting failed to achieve adequate alignment. Surgical intervention was performed via a dorsal approach, utilizing ORIF with K-wire fixation to restore joint congruity and ensure anatomic alignment. Outcomes: Postoperative follow-up demonstrated satisfactory healing, maintained reduction, and resolution of pain with no complications. The patient regained functional use of the digit with minimal stiffness, and the growth plate remained uninvolved during the recovery period. Discussion: This case underscores the importance of advanced imaging, early referral, and tailored surgical intervention for rare mallet fractures involving volar displacement and physeal injury. ORIF provided reliable stabilization and optimal outcomes in this complex case. Conclusions: Volar displaced Salter–Harris III fractures of the DIP joint are rare and challenging injuries in pediatric patients. This case highlights the role of ORIF in achieving successful outcomes and emphasizes the importance of precise reduction and stabilization to prevent long-term complications.
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Open AccessArticle
Validation of Pediatric Acute-Onset Neuropsychiatric Syndrome (PANS)-Related Pediatric Treatment Evaluation Checklist (PTEC)
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Andrey Vyshedskiy, Anna Conkey, Kelly DeWeese, Frank Benno Junghanns, James B. Adams and Richard E. Frye
Pediatr. Rep. 2025, 17(4), 81; https://doi.org/10.3390/pediatric17040081 - 28 Jul 2025
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Background/Objectives: The objective of this study was to validate a new parent-reported scale for tracking Pediatric Acute-onset Neuropsychiatric Syndrome (PANS). PANS is a condition characterized by a sudden and severe onset of neuropsychiatric symptoms. To meet diagnostic criteria, an individual must present with
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Background/Objectives: The objective of this study was to validate a new parent-reported scale for tracking Pediatric Acute-onset Neuropsychiatric Syndrome (PANS). PANS is a condition characterized by a sudden and severe onset of neuropsychiatric symptoms. To meet diagnostic criteria, an individual must present with either obsessive–compulsive disorder (OCD) or severely restricted food intake, accompanied by at least two additional cognitive, behavioral, or emotional symptoms. These may include anxiety, emotional instability, depression, irritability, aggression, oppositional behaviors, developmental or behavioral regression, a decline in academic skills such as handwriting or math, sensory abnormalities, frequent urination, and enuresis. The onset of symptoms is usually triggered by an infection or an abnormal immune/inflammatory response. Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS) is a subtype of PANS specifically linked to strep infections. Methods: We developed a 101-item PANS/PANDAS and Related Inflammatory Brain Disorders Treatment Evaluation Checklist (PTEC) designed to assess changes to a patient’s symptoms over time along 10 subscales: Behavior/Mood, OCD, Anxiety, Food intake, Tics, Cognitive/Developmental, Sensory, Other, Sleep, and Health. The psychometric quality of PTEC was tested with 225 participants. Results: The internal reliability of the PTEC was excellent (Cronbach’s alpha = 0.96). PTEC exhibited adequate test–retest reliability (r = 0.6) and excellent construct validity, supported by a strong correlation with the Health subscale of the Autism Treatment Evaluation Checklist (r = 0.8). Conclusions: We hope that PTEC will assist parents and clinicians in the monitoring and treatment of PANS. The PTEC questionnaire is freely available at neuroimmune.org/PTEC.
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Open AccessCase Report
Eosinophilic Esophagitis in a 3-Year-Old Girl with Spinal Muscular Atrophy Type 1: The First Reported Case
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Aleksandra Marzec, Elżbieta Jarocka-Cyrta and Marta Ruskań-Bakun
Pediatr. Rep. 2025, 17(4), 80; https://doi.org/10.3390/pediatric17040080 - 28 Jul 2025
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Background: Spinal muscular atrophy type 1 (SMA1) is a severe neuromuscular disorder characterized by progressive muscle weakness and atrophy, including the muscles of the oral cavity and esophagus. Eosinophilic esophagitis (EoE), a chronic, allergic disease, presents with eosinophilic infiltration of the esophagus, leading
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Background: Spinal muscular atrophy type 1 (SMA1) is a severe neuromuscular disorder characterized by progressive muscle weakness and atrophy, including the muscles of the oral cavity and esophagus. Eosinophilic esophagitis (EoE), a chronic, allergic disease, presents with eosinophilic infiltration of the esophagus, leading to esophageal dysmotility. Feeding difficulties may occur in both conditions. So far, the coexistence of EoE and SMA1 has not been described; we present the first such case. Case presentation: The patient was a girl with SMA1 diagnosed shortly after birth, treated with nusinersen and onasemnogene abeparvovec, and fed a standard industrial diet through a gastrostomy. In her second year of life, she developed increasing symptoms: distress during feeding, regurgitation, vomiting, and weight loss. She was treated with proton pump inhibitors without clinical improvement. Gastroscopy was performed, revealing superficial epithelial damage with bleeding in the proximal esophagus. Histopathology showed chronic inflammation with up to 150 eosinophils per high-power field, microabscesses, spongiosis, and basal layer hypertrophy. The girl was diagnosed with EoE. Her diet was switched from a standard industrial formula to an amino acid-based formula, which led to marked clinical improvement, the resolution of symptoms, and appropriate weight gain. Conclusions: This case report highlights the challenges of diagnosing EoE in SMA1 patients and emphasizes the need for multidisciplinary approaches and further investigation of allergic manifestations in SMA1 patients.
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Open AccessSystematic Review
The Relationship with Meeting Physical Activity Guidelines in Preschool-Aged Children: A Systematic Review
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Markel Rico-González, Ursula Småland Goth, Ricardo Martín-Moya and Luca Paolo Ardigò
Pediatr. Rep. 2025, 17(4), 79; https://doi.org/10.3390/pediatric17040079 - 22 Jul 2025
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Background/Objectives: Physical activity (PA) during preschool is vital for supporting physiological development, enhancing cognitive abilities and fostering socio-emotional growth. However, consistent disparities in meeting PA guidelines have been observed. This systematic review aims to identify studies that compared preschoolers’ PA, as measured
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Background/Objectives: Physical activity (PA) during preschool is vital for supporting physiological development, enhancing cognitive abilities and fostering socio-emotional growth. However, consistent disparities in meeting PA guidelines have been observed. This systematic review aims to identify studies that compared preschoolers’ PA, as measured by technological devices, with recommended PA guidelines. Specifically, it examines (i) factors associated with meeting PA guidelines and (ii) the outcomes observed when children meet these guidelines. Methods: The search strategy was designed based on the PICOS framework. Then, a systematic review was conducted using four databases to identify studies that included children from 0 to 6 years old participating in PA sessions recorded through technological devices. PA is compared with guidelines, and correlations were reported. Results: Of the 52 studies reviewed, most found that meeting PA guidelines in preschool-aged children was linked to favourable outcomes across multiple domains. Children who met the guidelines tended to show better motor competence, emotional regulation and cognitive skills, particularly in areas like working memory and social understanding. However, the relationship with body composition and body mass index was inconsistent, suggesting that the benefits of PA in early childhood extend beyond weight-related measures. Conclusions: Meeting PA guidelines in early childhood is strongly associated with cognitive development, emotional regulation, motor skills and social behaviours. However, adherence varies significantly due to a complex mix of individual, familial, socioeconomic and environmental factors.
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Open AccessArticle
Pilot Study on the Evaluation of the Diet of a Mexican Population of Adolescents
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Karen Rubí Escamilla-Gutiérrez, Alejandra López-García, Nelly del Socorro Cruz-Cansino, José Alberto Ariza-Ortega, Eli Mireya Sandoval-Gallegos, Esther Ramírez-Moreno and José Arias-Rico
Pediatr. Rep. 2025, 17(4), 78; https://doi.org/10.3390/pediatric17040078 - 22 Jul 2025
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Background: Adolescence is characterized by physical and psychosocial changes. This implies modifying or implementing correct nutritional habits at an early age, which would have an impact on a healthy adult life. Objectives: The FFQ of dietary patterns has not been estimated in the
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Background: Adolescence is characterized by physical and psychosocial changes. This implies modifying or implementing correct nutritional habits at an early age, which would have an impact on a healthy adult life. Objectives: The FFQ of dietary patterns has not been estimated in the population of adolescents. Therefore, conducting a pilot, cross-sectional, comparative, and correlational study, we sought to identify frequently consumed foods in an adolescent population. Methods: As part of the methodology, a Food Frequency Questionnaire (FFQ) was given to a non-probability convenience sample of 178 subjects aged 14 to 19 years to evaluate the most frequently consumed foods. Results: This study showed that the diet of Mexican adolescents was characterized with little variability in the foods consumed: 28.20% of the population had a good consumption of milk (1 to 5 serving/day), 16.50% of sugars, and 16% of cereals, while only less than 15% had a good consumption of source animal foods, fruits and vegetables, oils, and fat. Conclusions: Mexican adolescents have demonstrated that their diet is poorly varied. Adolescence is an important period in life that can define habitual dietary intake, and therefore, it is crucial to promote healthy eating at this age. Further research and appropriate public policies are needed.
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Open AccessArticle
Antibiotic Effect on Clinical Response and Remission in Pediatric Inflammatory Bowel Disease
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Caeley Dye, Caroline M. Sierra, Khaled Bahjri, Mallory Cohen and Gautam Nagendra
Pediatr. Rep. 2025, 17(4), 77; https://doi.org/10.3390/pediatric17040077 - 21 Jul 2025
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Objective: Gut dysbiosis has been implicated in the pathology of inflammatory bowel disease (IBD). There is some evidence to suggest that the use of antibiotic treatment can incite an early clinical response or remission when used in conjunction with standard-of-care (SOC) therapy
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Objective: Gut dysbiosis has been implicated in the pathology of inflammatory bowel disease (IBD). There is some evidence to suggest that the use of antibiotic treatment can incite an early clinical response or remission when used in conjunction with standard-of-care (SOC) therapy to treat IBD-related flares. Furthermore, antibiotics have been historically investigated for use as a bridge when initiating biologic therapy while waiting for peak biologic treatment effect to occur. This study investigated and compared the time to clinical response when treated with combination antibiotics, metronidazole monotherapy, or SOC therapy in pediatric patients with an active IBD flare. Methods: This study was a retrospective, Institution Review Board-approved, single-centered cohort study which included patients who were less than 18 years of age with a confirmed diagnosis of IBD who received conventional treatment alone or with either combination antibiotic therapy or metronidazole monotherapy to treat an active IBD flare between March 2013 and January 2024. Patients were excluded if they received antibiotic therapy to treat an active infection, had positive stool cultures or enteric pathogen polymerase chain reaction panel, or had colonic disease limited to the rectum. Results: Fifty-nine patients were included and divided into metronidazole monotherapy (n = 18), SOC therapy (n = 20), and combination antibiotics (n = 21). The primary outcome of days to clinical response was not significantly different across all groups; however, patients who received combination antibiotics achieved the fastest time to clinical response (median (IRQ))—4 days (1, 65), compared to 7.5 days (1, 119) for the SOC group and 9 days (2, 217) for the metronidazole group. Secondary outcomes of achievement of clinical response, remission, or failure were determined to be non-significant between all groups. Conclusions: There is no significant difference in time to clinical response, attaining clinical response or remission, or treatment failure rate for patients treated with combination antibiotics, metronidazole monotherapy, or SOC. However, results of this study suggest that the use of combination antibiotics plus SOC may lead to a faster time to clinical response and remission compared to SOC therapy alone. Further studies are warranted to elucidate the role of antimicrobial therapy in management of pediatric IBD.
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Open AccessArticle
From Early Stress to Adolescent Struggles: How Maternal Parenting Stress Shapes the Trajectories of Internalizing, Externalizing, and ADHD Symptoms
by
Katerina Koutra, Chrysi Mouatsou, Katerina Margetaki, Georgios Mavroeides, Mariza Kampouri and Lida Chatzi
Pediatr. Rep. 2025, 17(4), 76; https://doi.org/10.3390/pediatric17040076 - 18 Jul 2025
Abstract
Background/Objectives: Parenting stress, the emotional strain resulting from the demands of child-rearing, can profoundly affect both parental well-being and children’s emotional and behavioral development. This study examined the impact of maternal parenting stress during early childhood on the longitudinal progression of children’s internalizing,
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Background/Objectives: Parenting stress, the emotional strain resulting from the demands of child-rearing, can profoundly affect both parental well-being and children’s emotional and behavioral development. This study examined the impact of maternal parenting stress during early childhood on the longitudinal progression of children’s internalizing, externalizing, and attention deficit hyperactivity disorder (ADHD) symptoms, from early childhood through adolescence. Methods: The study included 406 mother–child pairs from the Rhea mother–child cohort in Crete, Greece. Maternal parenting stress was assessed at age 4 using the Parental Stress Scale (PSS). Children’s symptoms were evaluated at ages 4 (Strengths and Difficulties Questionnaire, ADHD Test), 6, 11, and 15 years (Child Behavior Checklist, Conners’ Parent Rating Scale) through maternal reports. Multivariate mixed regression models, incorporating a random intercept for each child and a random slope for age at follow-up, were used to analyze the trajectories of symptoms from ages 4 to 15. Group-based trajectory modeling was applied to identify trajectory groups from 4 to 15 years, and multinomial logistic regression models were implemented to examine the associations between parental stress and group trajectories. Results: The results revealed that higher parental stress at age 4 was significantly associated with increased internalizing (b = 0.94, 95% CI: 0.68, 1.21), externalizing (b = 1.03, 95% CI: 0.75, 1.30), and ADHD symptoms (b = 0.86, 95% CI: 0.58, 1.14) over the study period. Notably, the impact of parenting stress on behavioral problems decreased with age (interaction with age, p = 0.032). Additionally, higher parenting stress at age 4 was linked to a greater likelihood of belonging to adverse symptom trajectories, including high decreasing, low increasing, and stable high trajectories for both internalizing and externalizing problems. Conclusions: These findings underscore the importance of early maternal parenting stress as a predictor of long-term emotional and behavioral difficulties in children, emphasizing the need for early intervention programs that support maternal mental health and children’s emotional development.
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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 AccessReview
Cannabinoid Hyperemesis Syndrome in Adolescents: A Narrative Review
by
Camilla Pietrantoni, Gaia Margiotta, Giuseppe Marano, Marianna Mazza, Francesco Proli, Giuseppe Stella, Alessia Cherubino, Francesca Viozzi, Fabiana Rita Guida, Claudia Rendeli, Roberto Pola, Eleonora Gaetani and Valentina Giorgio
Pediatr. Rep. 2025, 17(4), 75; https://doi.org/10.3390/pediatric17040075 - 14 Jul 2025
Abstract
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Cannabinoid hyperemesis syndrome (CHS) is characterized by a pattern of cyclic vomiting and abdominal pain despite an absence of an organic cause, occurring in regular cannabis users. This syndrome was first described in 2004. Initially considered rare, with the increased use and legalization
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Cannabinoid hyperemesis syndrome (CHS) is characterized by a pattern of cyclic vomiting and abdominal pain despite an absence of an organic cause, occurring in regular cannabis users. This syndrome was first described in 2004. Initially considered rare, with the increased use and legalization of cannabis, a growing incidence of diagnoses has been observed. Data on the pediatric population are still scant despite the high rate of cannabis consumption in young people. In this narrative review, we aim to synthesize the growing knowledge about CHS and its epidemiology, pathophysiology, diagnosis, and management in the pediatric population. Findings in this review highlight the diagnostic challenges in pediatric patients, the limited efficacy of standard anti-emetic therapies, and the central role of cannabis cessation in treatment. This review underscores the need for increased awareness of CHS in pediatric practice to ensure timely diagnosis and avoid unnecessary investigations and interventions.
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Open AccessArticle
Disparities in Treatment Outcomes for Cannabis Use Disorder Among Adolescents
by
Helena Miranda, Jhon Ostanin, Simon Shugar, Maria Carmenza Mejia, Lea Sacca, Mitchell L. Doucette, Charles H. Hennekens and Panagiota Kitsantas
Pediatr. Rep. 2025, 17(4), 74; https://doi.org/10.3390/pediatric17040074 - 10 Jul 2025
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Background: This study examined treatment outcomes for cannabis use disorder (CUD) among adolescents (12–17 years old) in the United States. Methods: Data from the 2018–2021 Treatment Episode Data Set-Discharges (TEDS-D) included 40,054 adolescents diagnosed with CUD. Descriptive statistics, Chi-square tests, and multivariable logistic
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Background: This study examined treatment outcomes for cannabis use disorder (CUD) among adolescents (12–17 years old) in the United States. Methods: Data from the 2018–2021 Treatment Episode Data Set-Discharges (TEDS-D) included 40,054 adolescents diagnosed with CUD. Descriptive statistics, Chi-square tests, and multivariable logistic regression assessed treatment outcomes and factors associated with treatment completion. Results: Only 36.8% of adolescents completed treatment. The most common reasons for not completing treatment were dropping out (28.4%) and transferring to another facility/program (17.0%). Males and Black non-Hispanic adolescents had lower odds of completing treatment (OR = 0.79, 95%CI: 0.75–0.84), while Hispanic (OR = 1.13, 95%CI: 1.08–1.18), Asian (OR = 1.56, 95%CI: 1.3–1.86) and Native Hawaiian/Pacific Islander adolescents (OR = 2.31, 95%CI: 2.04–2.61) had higher odds of completion compared to their White counterparts. Independent living arrangements, homelessness, arrests in the past 30 days and younger age (<15 years old) decreased the likelihood of treatment completion. Adolescents with co-occurring mental health and substance use disorders also had lower completion rates (OR = 0.79, 95%CI: 0.77–0.86). Referral from schools/employers and treatment settings were associated with a higher success, particularly with stays of 4–6 months and 7–12 months. Conclusion: This study highlights the need for targeted CUD treatment programs that support at-risk adolescents, especially those experiencing homelessness or facing legal issues. High dropout and transition rates suggest a need for continuity of care and program integration between facilities. Strengthening coordination among public health officials, community organizations, and stakeholders is essential to developing culturally responsive treatment interventions that address social determinants of health, substance use, and mental health in this vulnerable population.
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Open AccessCase Report
The Co-Occurrence of Autism Spectrum Disorder and Aarskog–Scott Syndrome in an Accomplished Young Man
by
Raisa S. Romanova, Oksana I. Talantseva, Katerina V. Lind, Victoria A. Manasevich, Julia E. Kuznetsova and Elena L. Grigorenko
Pediatr. Rep. 2025, 17(4), 73; https://doi.org/10.3390/pediatric17040073 - 8 Jul 2025
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Objectives/Background: Aarskog–Scott syndrome (AAS), also known as faciogenital dysplasia, is a rare X-linked genetic disorder primarily characterized by its diverse physical manifestations. Previous evidence suggests a potential association between AAS and neurodevelopmental disorders, including autism spectrum disorder (ASD). Methods: This case study presents
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Objectives/Background: Aarskog–Scott syndrome (AAS), also known as faciogenital dysplasia, is a rare X-linked genetic disorder primarily characterized by its diverse physical manifestations. Previous evidence suggests a potential association between AAS and neurodevelopmental disorders, including autism spectrum disorder (ASD). Methods: This case study presents a male adolescent with ASD and a novel genetic variant in FGD1 underlying AAS. We conducted comprehensive clinical, genetic, and behavioral assessments to characterize the neurodevelopmental presentation. Moreover, we examined the existing literature on AAS and comorbid neurodevelopmental disorders. Results: The patient demonstrated features consistent with both AAS and ASD, presenting with characteristic physical features of AAS and meeting diagnostic criteria for ASD on both ADI-R and ADOS-2. Cognitive assessment revealed above-average nonverbal IQ (Leiter-3, NVIQ = 115), while adaptive functioning was notably impaired (Vineland composite score = 65). Executive function deficits were identified through several assessments, though ADHD diagnostic criteria were not met. The literature review considered 64 studies, including 151 individuals with AAS. ASD was observed in 4.0%, Attention Deficit/Hyperactivity Disorder (ADHD) in 10.6%, and Intellectual Disability (ID) in 14.2% of cases. Conclusions: The combination of ASD with preserved nonverbal intelligence but impaired adaptive functioning in this AAS case demonstrates the complex neurodevelopmental manifestations possible in this rare genetic condition. The prevalence of neurodevelopmental disorders among people with AAS may be higher than their prevalence in the general population. However, a comprehensive assessment of developmental progress was rarely performed in previous studies, which may lead to systematic underestimation of co-occurring neurodevelopmental difficulties in AAS.
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