Frontiers in Pediatrics最新文献

{"title":"S100A8/A9 as a biomarker for differentiating pulmonary tuberculosis from community-acquired pneumonia in children: a multicenter cohort study in China.","authors":"Xiaoxue Li, Xu Li, Min Fang, Xiaomei Liu, Li Duan, Ming Li, Yanan Fu, Yanchun Wang, Li Jiang, Xiaotao Yang, Tingting Jiang, He Tang, Li Tan, Meifen Wang, Yang Liu, Yu Zhu, Jing Bi, Adong Shen","doi":"10.3389/fped.2026.1910674","DOIUrl":"10.3389/fped.2026.1910674","url":null,"abstract":"<p><strong>Background: </strong>Differentiating pulmonary tuberculosis (PTB) from community-acquired pneumonia (CAP) in children remains a significant diagnostic challenge. This study aimed to evaluate the diagnostic value of serum S100A8/A9 in pediatric populations.</p><p><strong>Methods: </strong>This multicenter prospective study enrolled 1,629 children aged 0∼≤ 18 years with definitive diagnostic classifications, including a discovery cohort (<i>n</i> = 1,092) and a validation cohort (<i>n</i> = 537). Participants were stratified into three groups: PTB (Confirmed, Unconfirmed), CAP (Viral, Bacterial, <i>Mycoplasma pneumoniae</i>, Mixed), and healthy controls (HC). Serum S100A8/A9 levels were quantified by enzyme-linked immunosorbent assay, and diagnostic performance was assessed using ROC analysis.</p><p><strong>Results: </strong>In both cohorts, S100A8/A9 levels were markedly lower in PTB than in CAP but higher than in healthy controls. (both <i>p</i> < 0.001). For distinguishing PTB from CAP, S100A8/A9 achieved AUC values of 0.916 (95% CI: 0.895-0.937, sensitivity 87.1%, specificity 81.8%) in the discovery cohort and 0.932 (95% CI: 0.906-0.958, sensitivity 87.5%, specificity 86.4%) in the validation cohort. Compared with all CAP etiological subgroups, PTB children had the lowest S100A8/A9 levels, with the highest AUC of 0.954 for PTB vs. <i>Mycoplasma pneumoniae</i> CAP. Age-stratified analysis revealed excellent discriminatory performance in children aged 5-18 years (AUC = 0.955 for PTB versus overall CAP). but impaired in children under 5 years (AUC = 0.838 for PTB versus overall CAP), with lower sensitivity (57.4%) for discriminating PTB from Viral-CAP. Furthermore, a concentration-dependent distribution was observed, with higher S100A8/A9 levels associated with a decreasing proportion of PTB and an increasing proportion of CAP. In children aged 5-18 years, levels < 1,000 ng/mL were predominantly PTB (92.1%), and levels > 1,900 ng/mL were highly predictive of CAP (96.8%).</p><p><strong>Conclusions: </strong>Serum S100A8/A9 is a promising potential biomarker for distinguishing pediatric PTB from CAP, characterized by age-related distribution and concentration-dependent diagnostic pattern.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"14 ","pages":"1910674"},"PeriodicalIF":2.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13670915/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149216010","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case Report: Early-onset portal hypertension revealing pediatric ADPKD with a truncating PKD1 variant.","authors":"Ana Katerin Minota Idarraga, Ivan Mauricio Llanos Arango","doi":"10.3389/fped.2026.1851979","DOIUrl":"10.3389/fped.2026.1851979","url":null,"abstract":"<p><strong>Background: </strong>Autosomal dominant polycystic kidney disease (ADPKD) is a multisystemic ciliopathy whose clinical spectrum extends into childhood. Although hepatic cysts are the most common extrarenal manifestation, early portal hypertension associated with congenital hepatic fibrosis (CHF)-like features is uncommon and likely underrecognized.</p><p><strong>Case presentation: </strong>We report a 10-year-old girl with no known family history of ADPKD who presented at 9 years of age with upper gastrointestinal bleeding secondary to grade III esophageal varices. The diagnostic evaluation established non-cirrhotic portal hypertension, and she underwent endoscopic variceal ligation followed by secondary prophylaxis with propranolol. Imaging demonstrated hepatosplenomegaly, patent portal and splenic veins, and no hepatic cysts. Liver biopsy showed mild portal fibrosis (METAVIR F1), while liver stiffness measured 6.4 kPa, consistent with mild fibrosis. Renal imaging revealed multiple bilateral cortical cysts, and whole-exome sequencing identified a heterozygous truncating PKD1 variant (p.Glu1633Ter), classified as pathogenic according to ACMG criteria. The patient remains clinically stable without recurrent bleeding during multidisciplinary follow-up.</p><p><strong>Discussion: </strong>This case expands the phenotypic spectrum of pediatric ADPKD by illustrating clinically significant portal hypertension despite only mild hepatic fibrosis. It also highlights the importance of integrating histopathology, non-invasive liver assessment, imaging, and molecular testing when evaluating children with unexplained non-cirrhotic portal hypertension.</p><p><strong>Conclusion: </strong>ADPKD should be considered in the differential diagnosis of pediatric non-cirrhotic portal hypertension, even in the absence of hepatic cysts. Early genetic testing may facilitate accurate diagnosis and appropriate multidisciplinary management.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"14 ","pages":"1851979"},"PeriodicalIF":2.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13671106/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149215666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between discretionary screen time and depressive symptoms in Chinese adolescents: a cross-sectional study.","authors":"Zhi Xu, Shuye Yang, Shibin Wang, Xing Wang","doi":"10.3389/fped.2026.1957282","DOIUrl":"10.3389/fped.2026.1957282","url":null,"abstract":"<p><strong>Background: </strong>Adolescents globally exhibit growing engagement with discretionary screen time, but its association with depressive symptoms remains unclear in developing economies.</p><p><strong>Objective: </strong>To examine the relationship between discretionary screen time and depressive symptoms among Chinese adolescents.</p><p><strong>Methods: </strong>A cross-sectional study of 4,706 adolescents in Maoming City, Guangdong Province, China. Participants were stratified into four discretionary screen time categories: <1 h (<i>n</i> = 1,372), 1-2 h (<i>n</i> = 1,277), 2-4 h (<i>n</i> = 1,032), and ≥4 h (<i>n</i> = 1,025). Depressive symptoms were assessed using the validated CESD-9, with a cutoff score of ≥10. The primary analysis was a multilevel logistic regression model with random intercepts for school and class, adjusted for all measured covariates except BMI, anxiety and insomnia; a model additionally adjusted for BMI, anxiety and insomnia served as a sensitivity analysis. Subgroup analyses evaluated potential effect modification.</p><p><strong>Results: </strong>The prevalence of depressive symptoms was 29.7% (1,398/4,706). In the primary multilevel model (random intercepts for school and class; adjusted for sociodemographic, socioeconomic and lifestyle factors, without BMI, anxiety and insomnia), compared with the <1 h reference group, the odds ratios were 1.21 (95% CI: 0.98-1.49; <i>p</i> = 0.082) for 1-2 h, 1.88 (95% CI: 1.52-2.33; <i>p</i> < 0.001) for 2-4 h, and 2.54 (95% CI: 2.04-3.16; <i>p</i> < 0.001) for ≥4 h; each screen-time category increment was associated with 39% higher odds of depressive symptoms (OR = 1.39, 95% CI: 1.29-1.49; <i>p</i> < 0.001). When additionally adjusted for BMI, anxiety and insomnia (sensitivity analysis, Model 4), the associations were attenuated but remained statistically significant for the higher categories (≥4 h: OR = 1.69, 95% CI: 1.28-2.22; per-category OR = 1.19, 95% CI: 1.09-1.29). Subgroup analyses revealed no statistically significant evidence of effect modification (all <i>p</i>-interaction >0.05).</p><p><strong>Conclusion: </strong>Prolonged discretionary screen time is significantly associated with higher odds of depressive symptoms among Chinese adolescents, indicating a graded association that strengthens with increasing screen time. These findings are relevant to public-health monitoring of discretionary screen use in adolescents.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"14 ","pages":"1957282"},"PeriodicalIF":2.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13669189/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149215351","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The hope of children and families in the context of cancer: a scoping review.","authors":"Camila Garófalo, Aline Oliveira Silveira, Dhiovanna Tavares, Hellen Seganfredo, Monika Wernet, Zaida Charepe","doi":"10.3389/fped.2026.1958432","DOIUrl":"10.3389/fped.2026.1958432","url":null,"abstract":"<p><strong>Context: </strong>Childhood cancer affects children, adolescents, and their families. This sudden and uncertain context threatens hope, a vital, multidimensional, and evolving force.</p><p><strong>Objective: </strong>To map scientific evidence for the hope of children, adolescents, and families, the meanings, perceptions, and manifestations of hope associated with coping during childhood cancer treatment.</p><p><strong>Method: </strong>This scoping review was based on the Dufault and Martocchio model and followed Joanna Briggs Institute methodological guidelines. The search was conducted in six databases (PUBMED, CINAHL, LILACS, SCOPUS, PSYCINFO, and SCIELO) in May 2025 and updated in February 2026, returning 4,380 studies.</p><p><strong>Results: </strong>A total of 31 studies were eligible, most conducted in the United States with a qualitative approach and interviews. The predominance of the maternal perspective was identified. Evidence revealed meanings of hope as \"lifeblood\" and \"ray of light,\" undergoing transformations as the expectation of healing was redefined and culminated in hoping for relief from suffering and dignity at the end of life (Cognitive Dimension). Trust and fear coexist (Affective Dimension), but living \"day-to-day,\" maintaining family rituals and dynamics, and practicing faith help alleviate helplessness (Affiliative and Behavioural Dimension). Meaningful relationships, coping actions, and the ability to redefine healing justify the predominance of the Affiliative, Behavioral, and Cognitive Dimensions.</p><p><strong>Conclusion: </strong>Hope is a dynamic and metamorphic force that sustains the family in the face of sudden diagnosis and prognostic uncertainties. Relationships with healthcare professionals can amplify or threaten the family's sense of hope. Expanded family representation and as a systemic unit were gaps.</p><p><strong>Systematic review registration: </strong>https://osf.io/atk6v, identifier 10.17605/OSF.IO/ATK6V.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"14 ","pages":"1958432"},"PeriodicalIF":2.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13669171/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149216099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Shared reading and independent book engagement in early childhood: associations with the home literacy environment in a Turkish pediatric outpatient population.","authors":"Enes Kaan Kilic, Furkan Kalayci, Kaan Çelebier, Aybars Ataus, Metehan Yaşar Tekin, Arif İsmet Çatak, Metin Yigit","doi":"10.3389/fped.2026.1939681","DOIUrl":"10.3389/fped.2026.1939681","url":null,"abstract":"<p><strong>Objective: </strong>To explore parental reading practices and factors associated with parental reading to children and children's independent engagement with books within the Home Literacy Environment (HLE).</p><p><strong>Methods: </strong>This cross-sectional study included 362 parents of children aged 1-6 years who attended the Pediatric Outpatient Clinic of Ankara Bilkent City Hospital between October and December 2025. Parents completed a 28-item questionnaire assessing their demographic characteristics, home literacy practices, parental reading habits, access to books, and children's independent book engagement. Firth's bias-reduced penalized likelihood logistic regression was used for multivariable analyses.</p><p><strong>Results: </strong>Shared reading was common, occurring daily in 47.3% and 2-3 times per week in 29.3% of families, most often during the evening or bedtime routines (64.2%). Maternal education was strongly associated with parental reading to the child; mothers with a university degree or higher had higher odds of reading to their children than those with a high school education or below [odds ratio (OR) = 14.31; 95% confidence interval (CI): 4.73-50.21; <i>p</i> < 0.001]. Independent book engagement was associated with older child age (OR = 1.38 per year; 95% CI: 1.11-1.73, <i>p</i> = 0.004), parental reading (OR = 3.82; 95% CI: 1.50-9.79,<i>p</i> = 0.005), a home library (OR = 2.48; 95% CI: 1.18-5.23,<i>p</i> = 0.017), and at least one parent with a regular reading habit (OR = 2.35; 95% CI: 1.02-5.18,<i>p</i> = 0.044), whereas maternal education was not independently associated with this outcome (<i>p</i> = 0.121).</p><p><strong>Conclusion: </strong>Parental reading and children's independent book engagement were associated with different components of the HLE. These exploratory findings suggest that both parental characteristics and everyday home literacy practices may be relevant to shared reading and independent book engagement, and may help inform future efforts to integrate family-centered literacy guidance into pediatric care.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"14 ","pages":"1939681"},"PeriodicalIF":2.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13668856/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149216096","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Building a framework for successful transition from pediatric to adult healthcare in Down syndrome.","authors":"J Hubrechts, N Mahlaoui, H Franckx, I Loeckx, A Monier, T Boiy, G Wieërs","doi":"10.3389/fped.2026.1932363","DOIUrl":"https://doi.org/10.3389/fped.2026.1932363","url":null,"abstract":"<p><strong>Background: </strong>Adults with Down syndrome (DS) increasingly require structured transition from pediatric to adult healthcare, yet disease-specific guidance remains limited.</p><p><strong>Methods: </strong>We reviewed current evidence and combined it with the multidisciplinary clinical experience of the Belgian National Scientific Board for Down Syndrome to identify barriers and propose practical recommendations.</p><p><strong>Results: </strong>Transition in DS is challenged by intellectual disability, multimorbidity, fragmented adult care, structural healthcare inequalities, delayed primary care involvement, parental ageing, and poor coordination between medical and social services. We propose a person-centered framework emphasizing early preparation, supported decision-making, multidisciplinary collaboration, early engagement of general practitioners, accessible communication, and integrated medico-social support.</p><p><strong>Conclusions: </strong>Disease-specific transition pathways are needed to improve continuity of care, promote autonomy, and reduce health inequalities. Prospective studies should evaluate transition models and include the perspectives of people with DS and their families.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"14 ","pages":"1932363"},"PeriodicalIF":2.2,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13663021/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149192181","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transcatheter arterial embolization for hemoptysis in children with bronchopulmonary artery fistulas: a single-center retrospective analysis.","authors":"Zhuang Liu, Liang Wang, Jing Li, Xin Zhang, Jie Zhou, Dan Song","doi":"10.3389/fped.2026.1822389","DOIUrl":"10.3389/fped.2026.1822389","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the safety and efficacy of transcatheter interventional embolization for hemoptysis secondary to bronchopulmonary artery fistula (BPAF) in pediatric patients.</p><p><strong>Methods: </strong>A retrospective review was conducted on the clinical profiles and digital subtraction angiography (DSA) characteristics of 17 pediatric patients with BPAF-related hemoptysis. Clinical outcomes and follow-up data were analyzed.</p><p><strong>Results: </strong>The cohort comprised 11 boys and 6 girls, aged 7 months to 14 years. DSA demonstrated varying degrees of bronchopulmonary shunts. All patients successfully underwent super-selective embolization of the target vessels via a microcatheter. During hospitalization, hemoptysis was immediately resolved in 16 patients (94. 1%), while Patient No. 17 experienced persistent bleeding post-intervention and required immediate surgical treatment. During the long-term post-discharge follow-up, three patients experienced recurrence: Patient No. 12 developed recurrent hemoptysis at 2 years post-procedure, which was managed with a second and a subsequent third embolization due to another recurrence 3 months later, achieving long-term remission thereafter; Patient No. 15 experienced recurrence 1 year post-procedure and remained symptom-free after a second embolization; Patient No. 14 recurred 2 months post-procedure, and due to the inability of the microcatheter to reach the target vessel during the second angiography, the patient was successfully treated with surgery.</p><p><strong>Conclusion: </strong>Transcatheter interventional therapy is a safe and effective approach for managing BPAF-related hemoptysis in pediatric patients. For fistulas with high-volume shunts, positioning the microcatheter as close to the fistula orifice as possible for embolization may optimize technical and clinical success. Considering the relatively small sample size, the present results should be interpreted with caution and verified by larger follow-up studies.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"14 ","pages":"1822389"},"PeriodicalIF":2.2,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13661536/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149181360","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Duration of surfactant administration and its impact on stabilisation of vital parameters in very preterm neonates <28 weeks of gestational age (SurfStab): 1 min versus 5 min-study protocol for a prospective randomised-controlled phase IV trial.","authors":"C H Wolfsberger, B Schwaberger, N Baik-Schneditz, A Avian, M Holter, G Pichler","doi":"10.3389/fped.2026.1939771","DOIUrl":"https://doi.org/10.3389/fped.2026.1939771","url":null,"abstract":"<p><strong>Background: </strong>Respiratory distress syndrome remains one of the leading causes of morbidity and mortality in extremely preterm neonates. Surfactant replacement therapy substantially improves survival. Current European Consensus Guidelines recommend the less invasive surfactant administration (LISA) technique. However, no evidence exists on whether the duration of administration affects physiological stability. Rapid surfactant administration may provoke transient hypoxia or bradycardia due to airway obstruction, whereas slower delivery could potentially reduce such fluctuations.</p><p><strong>Methods/design: </strong>The SurfStab Trial is a single-centre, randomised, controlled phase IV clinical trial conducted at the Division of Neonatology, Medical University of Graz, Austria. Extremely preterm neonates (< 28 weeks of gestation) requiring surfactant via LISA will be randomly allocated (1:1) to receive surfactant administration over either 1 min (\"1-min group\") or 5 min (\"5-min group\"). The primary outcome is the maximum change in cerebral oxygen saturation (crSO₂), measured continuously using near-infrared spectroscopy (NIRS) from 5 min before LISA catheter insertion (baseline) to 15 min after completion of the procedure. Secondary outcomes include changes in arterial oxygen saturation (SpO₂), heart rate (HR), arterial blood pressure (ABP), thoracic electrical impedance tomography (EIT), lung ultrasound, and the need for repeat surfactant administration, invasive ventilation, or supplemental oxygen up to three and up to 48 h after study intervention, as well as short-term outcomes at hospital discharge. The planned sample size is 76 neonates.</p><p><strong>Discussion: </strong>This trial will address a crucial gap in neonatal care by determining whether the duration of surfactant administration influences cerebral and systemic oxygen stability in extremely preterm neonates. The findings may refine evidence-based recommendations for optimal LISA procedure and may contribute to improved outcomes.</p><p><strong>Clinical trial registration: </strong>ClinicalTrials.gov, Identifier: NCT NCT07261787. Registered 02/12/2025. Eu CT number 2025-522754-39-00. Registered 01/12/2025.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"14 ","pages":"1939771"},"PeriodicalIF":2.2,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13662143/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149192653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Temporal association between adjunctive repetitive transcranial magnetic stimulation and seizure reduction in a pediatric patient with DNM1L-associated EMPF1: a case report.","authors":"Xianghui Chen, Pinglian Sun, Xiaohong Ren, Gege Liu, Xiaoyuan Bai, Feng Guo, Rui Guo, Shirun Wu, Huifang Wang","doi":"10.3389/fped.2026.1933161","DOIUrl":"https://doi.org/10.3389/fped.2026.1933161","url":null,"abstract":"<p><strong>Background: </strong>Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission 1 (EMPF1) is a rare, severe mitochondrial disorder characterized by acute-onset refractory seizures that rapidly progress to status epilepticus and are associated with a poor prognosis. Conventional therapies, including antiepileptic drugs and the ketogenic diet, exhibit limited efficacy. Although repetitive transcranial magnetic stimulation (rTMS) has shown promise in other forms of drug-resistant epilepsy, its potential role in managing EMPF1 remains unexplored.</p><p><strong>Case presentation: </strong>A 7-year-old boy, previously healthy with normal development, presented with right-hand clonic movements and impaired consciousness, which progressed to status epilepticus. Brain MRI revealed diffuse cytotoxic edema involving the bilateral frontal, parietal, and temporal cortices, basal ganglia, and thalami. EEG recording showed generalized periodic spike-wave discharges with background slowing. Genetic testing identified a novel <i>de novo</i> DNM1L mutation (c.1949T > C, p.Leu650Pro), which was classified as likely pathogenic according to ACMG/AMP guidelines and provided strong support for the diagnosis of EMPF1. In addition to a regimen of antiepileptic drugs and a metabolic \"cocktail,\" 1-Hz rTMS (90% of the resting motor threshold, 40 trains daily) was applied over the left primary motor cortex on Day 16. Following initiation of this combined therapy, seizure frequency was temporally associated with a marked reduction, decreasing from ∼20 to 5-6 episodes/day after one day, 2-3 by Day 27 (12 days after rTMS initiation), and 0-1 by Day 36 (21 days after rTMS initiation). Despite this reduction in clinical seizure burden, the patient developed progressive pneumonia leading to sepsis and acute heart failure, and died on Day 65 (hospital day 65).</p><p><strong>Conclusions: </strong>In this case, adjunctive rTMS applied alongside standard antiepileptic and metabolic \"cocktail\" therapy was temporally associated with a pronounced reduction in seizure frequency in a patient with DNM1L-associated EMPF1. This temporal association is hypothesis-generating and does not permit attribution of the observed seizure reduction to rTMS; further investigation in larger cohorts is warranted.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"14 ","pages":"1933161"},"PeriodicalIF":2.2,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13662016/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149192707","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Age-dependent dissociation between sleep-disordered breathing severity and ventilatory impairment in children with Prader-Willi syndrome.","authors":"Mihail Basa, Jelena Visekruna, Tijana Grba, Sanja Cirkovic, Danijela Radivojevic, Bojana Dobric, Marijana Miskovic, Slavica Ostojic, Aleksandar Sovtic","doi":"10.3389/fped.2026.1919314","DOIUrl":"https://doi.org/10.3389/fped.2026.1919314","url":null,"abstract":"<p><strong>Introduction: </strong>Sleep-disordered breathing (SDB) is highly prevalent in children with Prader-Willi syndrome (PWS), encompassing central, obstructive, and ventilatory abnormalities. However, its longitudinal evolution remains incompletely understood.</p><p><strong>Methods: </strong>We conducted a retrospective longitudinal study of children with genetically confirmed PWS who underwent serial respiratory polygraphy with concurrent transcutaneous carbon dioxide (TcCO₂) monitoring. Clinical characteristics, therapeutic interventions, and longitudinal respiratory parameters were analyzed using linear mixed-effects models.</p><p><strong>Results: </strong>Twenty-nine children were included. SDB demonstrated an age-dependent pattern, with central respiratory abnormalities predominating in early childhood and obstructive events becoming more prominent during preschool and school age. In contrast, nocturnal ventilatory impairment was mainly observed in older children and adolescents. Clinical symptoms were independently associated with ENT intervention, whereas higher body mass index was associated with a greater likelihood of requiring non-invasive ventilation, supporting distinct obstructive and ventilatory phenotypes. Although unadjusted analyses suggested increasing TcCO₂ values with age, adjusted mixed-effects models indicated that this relationship was largely explained by obesity and treatment-related factors.</p><p><strong>Conclusions: </strong>SDB in children with PWS appears to represent an evolving continuum of central, obstructive, and ventilatory abnormalities. Conventional apnea indices alone may not adequately reflect ventilatory impairment, supporting longitudinal assessment of nocturnal gas exchange in addition to standard respiratory event indices.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"14 ","pages":"1919314"},"PeriodicalIF":2.2,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13662172/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149192912","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}