中国当代儿科杂志最新文献

Objectives: To explore the clinical characteristics and prognostic factors of pediatric acute myeloid leukemia (AML) with monosomy 7 (-7) and deletion of the long arm of chromosome 7 (7q-).

Methods: A retrospective study was conducted on the clinical data, treatment, and prognosis of children with -7/7q- AML who were admitted to the Department of Pediatrics at Peking University People's Hospital from January 2010 to December 2024.

Results: A total of 869 children with AML who had complete karyotype data were included, of whom 32 (3.7%) had -7/7q- chromosomal abnormalities. There were 20 males and 12 females, and the median age at diagnosis was 6 years. Six children (19%) had isolated -7; 2 (6%) had isolated 7q-; and 24 (75%) had additional chromosomal abnormalities. After induction chemotherapy, complete remission (CR) was achieved in 16 children (50%). At the last follow-up, 15 children (47%) had died and 17 (53%) were alive. The 3-year disease-free survival (DFS) rate was (54.1±0.1)%, and the 3-year overall survival (OS) rate was (52.6±0.1)%. The multivariable analysis showed that hematopoietic stem cell transplantation (HSCT) was an independent prognostic factor for DFS (HR=0.17, 95%CI: 0.04-0.62, P=0.008) and OS (HR=0.16, 95%CI: 0.04-0.59, P=0.006), with better outcomes in children who underwent HSCT.

Conclusions: The incidence of -7/7q- chromosomal abnormalities in children with AML is 3.7%. Additional chromosomal aberrations are common, and the CR rate after induction chemotherapy is low. HSCT is associated with improved prognosis and survival.

Objectives: To investigate the correlation between induction therapy response and prognosis in children with high-risk neuroblastoma, and to analyze factors associated with the induction therapy response.

Methods: Data of 55 children with high-risk neuroblastoma diagnosed and treated at Shanghai Children's Hospital from January 2019 to December 2023 were retrospectively reviewed. Induction response was assessed according to the International Neuroblastoma Response Criteria and patients were categorized into a good-response group (complete response or very good partial response) and a poor-response group (partial response, progressive disease, mixed response, or no response). Clinical and biological characteristics, treatments, and prognostic factors were analyzed.

Results: Among the 55 children, 29 were male and 26 were female; the median age at onset was 39 months. Follow-up was performed until December 31, 2024. The 3-year overall survival (OS) and event-free survival (EFS) rates were (83.8±5.3)% and (47.0±10.3)%, respectively. Neuron-specific enolase level at initial diagnosis, induction therapy response, radiotherapy, and recurrence were prognostic factors for EFS and OS (P<0.05). The 3-year OS was (83.5±7.4)% in the good-response group and (66.7±13.6)% in the poor-response group (P=0.012), while the 3-year EFS was (62.8±10.4)% and (27.8±14.8)%, respectively (P<0.001). Intracranial metastasis at initial diagnosis was associated with a poor induction response (P=0.033). A platelet count ≥400×10⁹/L was associated with a better induction response (P=0.002).

Conclusions: Induction therapy response is a significant prognostic factor in high-risk neuroblastoma. Absence of intracranial metastasis and a platelet count ≥400×10⁹/L at initial diagnosis are associated with a favorable induction therapy response.

The "International consensus on early rehabilitation and nutritional management for infants at high risk of neurological impairment" was jointly developed by the Rehabilitation Group of the Pediatrics Branch of the Chinese Medical Association in collaboration with international experts. It aims to provide standardized guidance for early rehabilitation and nutritional management in infants at high risk of neurological impairments. Based on existing evidence and expert opinion, the consensus addresses 10 key clinical questions, including early identification, rehabilitation intervention, and nutritional management, and provides scientific and practical guidance for healthcare professionals in China to improve clinical management and outcomes. This article interprets the consensus to offer relevant guidance for the early rehabilitation and nutritional management of infants at high risk of neurological impairments.

Objectives: To systematically evaluate neurodevelopmental differences between children with congenital heart disease (CHD) and healthy controls.

Methods: A comprehensive search was conducted in Web of Science, PubMed, Embase, Wanfang Data, China National Knowledge Infrastructure, Chinese Biomedical Literature Service System, and VIP Database to identify studies published from database inception to February 2025 that assessed the neurodevelopment of children with CHD (CHD group) and healthy controls (control group) using the Bayley Scales of Infant Development (BSID) and the Wechsler Intelligence Scale. In total, 33 studies involving 3 316 children were included. Hedges' g was used as the effect size. Meta analysis, subgroup analysis, sensitivity analysis, and publication bias analysis were performed using STATA/SE 17.0.

Results: Based on BSID-II, compared with the control group, the CHD group had significantly lower mental development index (Hedges' g=-1.09) and psychomotor development index (Hedges' g=-1.22) scores (both P<0.001). Based on BSID-III, compared with the control group, the CHD group had markedly lower scores in cognition (Hedges' g=-0.78), language (Hedges' g=-0.65), and motor (Hedges' g=-0.98) (all P<0.001). The Wechsler Intelligence Scale indicated that, compared with the control group, the CHD group had significantly lower full-scale intelligence quotient (Hedges' g=-0.74), verbal intelligence quotient (Hedges' g=-0.86), and performance intelligence quotient (Hedges' g=-0.67) (all P<0.001).

Conclusions: Children with CHD exhibit developmental delays in cognition, language, motor function, and intelligence.

Patient 1, a 4-year-old boy, presented with delayed language development. Persistently elevated free triiodothyronine (FT3) and free thyroxine (FT4) were found, with normal or elevated thyroid-stimulating hormone (TSH). A de novo heterozygous mutation in the THRB gene (c.1373T>C, p.Val458Ala) was identified, and resistance to thyroid hormone syndrome (RTH) was diagnosed. No specific medication was administered, and regular follow-up was arranged. Patient 2, a 2-year-old boy, had elevated TSH detected on neonatal screening. Thyroid dysfunction persisted for 1 year and 10 months and was accompanied by growth delay and tachycardia. Genetic testing revealed a de novo heterozygous mutation in the THRB gene (c.959G>A, p.Arg320His), and pituitary-type RTH was diagnosed. Propranolol was administered for heart rate control. RTH shows marked clinical heterogeneity and is prone to misdiagnosis or missed diagnosis. For children with unexplained thyroid dysfunction and developmental disorders, early THRB gene testing helps achieve precise diagnosis and guide treatment decisions.

Streptococcal toxic shock syndrome in children is a severe complication of group A Streptococcus infection, characterized by acute shock and multiple organ dysfunction. It is a critical illness with high mortality, and early diagnosis and treatment are key to improving prognosis. Children with this syndrome have a higher risk of death, and the pathogenesis is complex. This review summarizes the pathogenesis and recent advances in the diagnosis and treatment of streptococcal toxic shock syndrome caused by group A Streptococcus infection in children, aiming to improve clinical outcomes and reduce mortality.

Objectives: To investigate risk factors for pediatric intensive care unit (PICU) admission among children with acute lymphoblastic leukemia (ALL) and risk factors for receipt of life-sustaining therapy (LST) in the PICU.

Methods: Clinical data of ALL patients treated at the Children's Medical Center of the Second Xiangya Hospital from June 2016 to June 2021 were retrospectively reviewed. Patients were categorized into PICU and non-PICU groups according to PICU admission. Multivariable logistic regression was applied to identify risk factors for PICU admission. The cumulative probability of PICU admission was estimated using Kaplan-Meier curves. PICU patients were further stratified into LST and non-LST groups according to whether LST was received, and multivariable logistic regression was used to identify risk factors for receiving LST.

Results: A total of 200 children with ALL were included; 42 (21.0%) were admitted to the PICU at least once, with 48 total admissions. Multivariable logistic regression analysis showed that hyperleukocytosis at diagnosis and lactate dehydrogenase (LDH) >500 U/L were independent risk factors for PICU admission (both P<0.05). Kaplan-Meier curves demonstrated that T-cell ALL and hyperleukocytosis were associated with higher cumulative PICU admission rates. Univariate analysis showed that C-reactive protein, albumin, and respiratory failure were significantly associated with the receipt of LST (all P<0.05). Further multivariable logistic regression analysis revealed that respiratory failure was significantly associated with an increased risk of receiving LST (OR=13.254, P=0.027).

Conclusions: Children with ALL who have hyperleukocytosis at diagnosis and LDH >500 U/L have a higher risk of PICU admission; respiratory failure is an independent risk factor for receipt of LST among PICU-admitted ALL patients.

Objectives: To analyze the Bayesian network of harsh parenting, experiential avoidance, and adolescent short video addiction risk, identify key nodes, and provide precise recommendations for intervention.

Methods: In March 2025, the Harsh Parenting Scale, Experiential Avoidance Scale, and Short Video Addiction Scale were administered to 1 594 adolescents. Network analysis was performed using JASP 0.95.4, and key nodes were identified via centrality estimation.

Results: The core nodes of harsh parenting, experiential avoidance, and short video addiction risk were "I am hit with hands or kicked when I do something wrong or make my parents angry" (expected influence = 0.301), "Certain feelings make me feel scared" (expected influence = 0.684), and "Withdrawal" (expected influence = 1.222), respectively.

Conclusions: Interventions targeting these key nodes serve as an important reference for mitigating the impact of harsh parenting, experiential avoidance, and short video addiction risk on adolescents.

Objectives: To investigate the long-term neurodevelopmental outcomes of neonates with different types of stroke.

Methods: Data from 41 neonates diagnosed with stroke at the Third Affiliated Hospital of Zhengzhou University between January 2017 and May 2024 were retrospectively reviewed. Stroke types included arterial ischemic stroke (AIS), hemorrhagic stroke (HS), and cerebral sinovenous thrombosis (CSVT). All infants were followed to 2 years of age. Neurodevelopmental outcomes were assessed using the Bayley Scales of Infant and Toddler Development, Third Edition (BSID-III), focusing on motor and cognitive development. Outcomes were compared according to vascular involvement.

Results: Of the 41 neonates, 35(85%) had AIS, 5(12%) had HS, and 1(2%) had CSVT. Among the 35 AIS cases, 16(46%) involved the main trunk of the middle cerebral artery (MCA). The incidences of cerebral palsy (CP) and cognitive developmental delay were significantly higher in the MCA main trunk group than in the non-main-trunk group (P<0.05). Among the 5 HS cases, 1 involving the frontal cortical branch of the MCA died at 12 days of life. Two cases involving the temporal cortical branches had BSID-III cognitive development indices of 102 and 106, and motor development indices of 90 and 95 at 2 years. The remaining 2 cases involving the MCA main trunk developed CP. The single CSVT case involved the great cerebral vein and presented with CP and language developmental impairment.

Conclusions: AIS is the most common type of neonatal stroke and shows poorer outcomes by 2 years of age. Early identification and early intervention are essential in clinical practice.

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.