中国当代儿科杂志最新文献

Children with autism spectrum disorder (ASD) frequently have comorbid gastrointestinal problems, with constipation being the most prevalent. The onset and severity of constipation are closely related to the core symptoms of ASD, and improving constipation can alleviate these core symptoms. However, the mechanisms underlying comorbid constipation in ASD remain unclear. Multidisciplinary assessment is the foundation of clinical management for comorbid constipation in ASD. Targeted pharmacological therapy, dietary interventions, gut microbiota modulation, and complementary and alternative medicine interventions can be chosen for personalized treatment. This review summarizes the mechanisms, assessment, and clinical management of comorbid constipation in ASD and aims to provide a reference for comprehensive interventions in ASD.

Objectives: To identify predictors of sepsis-induced coagulopathy (SIC) in children and to establish a prediction model.

Methods: Clinical data were retrospectively collected from children with sepsis treated in the pediatric intensive care unit of Xinjiang Hospital of Beijing Children's Hospital between July 2021 and December 2023. Patients were classified into the SIC group (n=64) and the non-SIC group (n=61) according to whether SIC occurred. Multivariable logistic regression was employed to identify independent predictors of SIC. A prediction model was developed based on these factors. The predictive performance and clinical utility of the model were evaluated using the area under the receiver operating characteristic curve, calibration curve, and decision curve analysis.

Results: The multivariable logistic regression analysis showed that procalcitonin, Pediatric Sequential Organ Failure Assessment (pSOFA) score, and mean platelet volume were independent predictors of SIC in children with sepsis (P<0.05). The model developed from these three predictors yielded an area under the curve of 0.903 (95%CI: 0.852-0.953; P<0.001), with sensitivity and specificity of 0.922 and 0.738, respectively. The calibration curve analysis indicated good agreement between predicted and observed outcomes. The decision curve analysis showed favorable clinical benefit of the prediction model.

Conclusions: Procalcitonin, pSOFA score, and mean platelet volume are predictors of SIC among children with sepsis; the prediction model based on these three predictors shows high performance and has good clinical applicability.

Objectives: To explore the relationship between insulin resistance and idiopathic central precocious puberty (ICPP) in girls and the diagnostic value of insulin resistance.

Methods: Clinical data of 245 girls aged 4 to 7.5 years with low luteinizing hormone (LH) levels (0.2-0.83 IU/L), normal body weight (body mass index standard deviation score between -2 and +2), and early breast development who visited the Department of Pediatric Endocrinology, Henan Provincial Maternal and Child Health Hospital from January 2022 to March 2025 were retrospectively analyzed. According to the Expert Consensus on the Diagnosis and Treatment of Central Precocious Puberty (2022), patients were assigned to an ICPP group (n=123) or a control group (n=122). Correlations between the homeostasis model assessment of insulin resistance (HOMA-IR) and selected indices were assessed. Multivariable logistic regression was used to evaluate the association between HOMA-IR and ICPP, and the diagnostic performance of various indices for ICPP was evaluated.

Results: HOMA-IR was higher in the ICPP group than in the control group (P<0.001) and was positively correlated with LH peak (r_s=0.467, P<0.05) and the LH peak/FSH peak ratio (r_s=0.444, P<0.05). The multivariable logistic regression model including age, BMI, and basal LH showed that HOMA-IR was closely associated with ICPP (OR=2.756, 95%CI: 1.940-3.913). Receiver operating characteristic curve analysis showed that the areas under the curve for basal LH, HOMA-IR, and their combination in diagnosing ICPP were 0.735, 0.735, and 0.805, respectively (P<0.05), and the combined model had a greater area under the curve than either basal LH or HOMA-IR alone (both P<0.05).

Conclusions: HOMA-IR is closely associated with ICPP in girls with low LH and normal body weight, and combining HOMA-IR with basal LH improves early identification and diagnostic efficiency in this population.

Objectives: To analyze the serum metabolomic changes of preterm infants with bronchopulmonary dysplasia (BPD) at postmenstrual age (PMA) 36 weeks, screen potential biomarkers and associated metabolic pathways, and assess their relationship with short-term respiratory outcomes.

Methods: A retrospective case-control study was conducted. Infants with gestational age 28-32 weeks admitted to the Children's Hospital Affiliated to Zhengzhou University from January to December 2024 were included. Twenty infants with BPD and 20 gestational age-, birth weight-, and sex-matched non-BPD preterm infants were included. Serum collected at PMA 36 weeks was subjected to untargeted metabolomics analysis, and associations with short-term respiratory outcomes were analyzed.

Results: Thirteen potential biomarkers distinguishing BPD were identified (area under the curve >0.75, P<0.05). Eight biomarkers-including terephthalic acid, phosphatidylinositol, fumarate, and lysophosphatidic acid-were significantly upregulated (FC≥1.5), while five biomarkers, such as 7α-hydroxy-3-oxo-4-cholestenoate ester and phosphatidylcholine, were significantly downregulated (FC≤1/1.5). Pathway analysis indicated five pathways associated with BPD, including glycerophospholipid metabolism and phenylalanine metabolism. Dysregulation of glycerophospholipid and bile acid metabolism may affect adverse short-term respiratory outcomes in infants with BPD.

Conclusions: The 13 significantly different metabolites may serve as biomarkers for the diagnosis of BPD. Glycerophospholipid metabolism is associated with the occurrence of BPD and with adverse short-term respiratory outcomes.

Objectives: To explore the early clinical manifestations, random cortisol levels, and management of late-onset circulatory collapse (LCC) in preterm infants.

Methods: Preterm infants with LCC from October to December 2023 at the Affiliated Suzhou Hospital of Nanjing Medical University were included. Maternal perinatal factors and infants' early clinical symptoms, signs, random serum cortisol levels, treatment, and outcomes were retrospectively analyzed.

Results: Seven preterm infants with LCC were included, with gestational ages of 25 weeks + 2 days to 29 weeks and birth weights of 800-1 150 g. At 3 weeks of age, abnormal weight gain [gain rate: 21-28.5 g/(kg·d)], generalized edema, low serum sodium (129.5-135.2 mmol/L), and decreased random serum cortisol concentrations (13.6-44.6 nmol/L) were observed. After 1-2 weeks of hydrocortisone treatment, edema subsided and serum sodium increased.

Conclusions: In clinically stable preterm infants, early manifestations of LCC include abnormal weight gain, generalized edema, recurrent hyponatremia, and decreased random serum cortisol concentrations. Hydrocortisone treatment effectively improves symptoms.

Osteogenesis imperfecta (OI) is a rare genetic skeletal disorder most commonly caused by variants in COL1A1 and COL1A2, which encode type I collagen. It is characterized by increased bone fragility, recurrent fractures, and skeletal deformities that adversely affect quality of life. With advances in genetic testing and molecular pathophysiology, diagnosis has evolved from traditional imaging-based assessment to comprehensive evaluation guided by genotype-phenotype correlations. Early diagnosis and standardized management are crucial for improving prognosis; however, the rarity of OI and rapid technological progress make it challenging to keep pace with evolving diagnostic and therapeutic strategies. This article discusses the genetic and pathophysiological mechanisms, recent advances in diagnosis and treatment, and key points in the management of OI, aiming to provide up-to-date reference information for OI care and clear, actionable guidance for clinicians.

To better assist primary healthcare providers in recognizing the importance of postnatal bilirubin monitoring, and in developing the ability to promptly identify neonatal jaundice that requires intervention and to provide appropriate evaluation and management, thereby reducing severe neonatal hyperbilirubinemia requiring exchange transfusion and bilirubin encephalopathy while avoiding overtreatment, the Subspecialty Group of Neonatology, Society of Pediatrics, Chinese Medical Association and the Editorial Board of Chinese Journal of Contemporary Pediatrics organized experts who, based on the national expert consensus and guidelines on neonatal hyperbilirubinemia, integrated the latest clinical research evidence on neonatal jaundice and, after thorough discussion, formulated the "Guidelines for the diagnosis and treatment of common neonatal diseases in primary healthcare institutions: neonatal jaundice (2025)". The guideline addresses 10 common clinical questions on neonatal jaundice for primary healthcare providers and provides 16 recommendations.

Vasovagal syncope (VVS) is the most common cause of neurally mediated syncope in children. Recurrent syncope severely affects physical and mental health and may lead to unintentional injury. Based on international and domestic guidelines and clinical practice experience, standardized recommendations for the diagnosis and treatment of pediatric VVS are proposed. Management of VVS should be individualized, and non-pharmacological interventions, including lifestyle modifications, are the cornerstone for both classic and malignant VVS. Pharmacological therapy is recommended for children with VVS who have recurrent syncopal episodes, are at risk of trauma, or respond poorly to non-pharmacological interventions. For children in whom the head-up tilt test induces asystole, pacemaker implantation is not recommended as first-line therapy. In malignant VVS with recurrent syncope despite conventional treatment, pacemaker implantation may be considered after specialist evaluation. Data on cardioneuroablation in children are limited, and long-term follow-up is required.

A 3-year-10-month-old boy was admitted with a history of intermittent seizures for over one year. Global developmental delay, facial dysmorphism, and axial hypotonia were observed, with multiple seizure types including epileptic spasms and myoclonic seizures. Severe developmental delay was indicated by the Gesell Developmental Schedule, and electroencephalography showed generalized spikes and spike-and-slow-wave discharges. A de novo heterozygous missense variant in ATAD3A, c.1582C>T (p.Arg528Trp), was identified and classified as pathogenic, and a diagnosis of Harel-Yoon syndrome was made. After administration of antiseizure medications, seizures were controlled and motor development improved compared with baseline. To our knowledge, this seizure phenotype is the first report in the Chinese literature of Harel-Yoon syndrome due to a heterozygous ATAD3A variant. This case expands the clinical phenotypic spectrum of ATAD3A and provides a reference for diagnosis and management.