Abstract:Lung ultrasound(LUS),as a noninvasive and non-radiative imaging technique,has demonstrated significant value in the diagnosis and monitoring of severe pediatric pneumonia in recent years.The article systematically elucidates the basic principles of LUS,abnormal signs(such as pulmonary consolidation,increased B-lines,pleural effusion,etc.),and its diagnostic and evaluation efficacy in severe pediatric pneumonia;it also points out the advantages and limitations of LUS.In the future,it is necessary to promote the establishment of a child-specific LUS scoring system and explore artificial intelligence-assisted analysis techniques to enhance objectivity.

Abstract:Pneumonia is a common respiratory disease among children and is also one of the important causes of death in children under the age of 5.In the new stage of controlling the spread of the SARS-Cov-2 infection,as the epidemic situation changes and non-pharmaceutical prevention measures are importanted,the epidemiological trend of pathogenicity of severe pneumonia in children has undergone significant changes.This article analyzes and summarizes relevant domestic and foreign literature and clinical studies.We hope that clinicians can recognize the importance of respiratory pathogen monitoring,make adjustment of diagnosis and treatment methods for severe pneumonia in children,and especially,have a new understanding of the value of preventive measures such as vaccination.

Abstract:Accurately assessing the presence and severity of hypoxia is of great significance.Hypoxia is currently diagnosed based on the criteria of hypoxemia,but the three types of hypoxia-circulatory,hematological,and histotoxic-do not present with hypoxemia.Actually,the current criteria of hypoxia is only applicable to the assessment of hypotonic(respiratory)hypoxia caused by respiratory diseases.This article elaborates on the types of hypoxia,its correlation with hypoxemia,compensatory mechanisms of respiratory hypoxia,and new assessment indicators.

Abstract:Kawasaki disease(KD)is an acute self-limiting febrile disorder that mainly affects children under 5 years old.The 2024 edition of"Update on Diagnosis and Management of Kawasaki Disease:A Scientific Statement From the American Heart Association"updates and summarizes the clinical research progress related to diagnosis,acute-phase cardiac imaging examinations,and long-term management since the American Heart Association released the KD scientific statement in 2017.The new statement updates the diagnostic criteria for patients at high risk of coronary artery aneurysms in the North American population,who may benefit from more aggressive initial treatment.Advances in cardiovascular imaging technology have enhanced our ability to identify coronary artery stenosis in KD patients.The latest research on KD treatment has deepened our understanding of the safety and dosage regimens of multiple anti-inflammatory treatments for KD.The new statement also explores key clinical issues such as the application of new oral anticoagulants,management plans for myocardial infarction,selection of anti-platelet drugs,anti-coagulation treatment strategies,and methods for assessing myocardial ischemia,with particular emphasis on long-term follow-up management strategies for patients with coronary artery complications.

Abstract:Objective High-dose methotrexate(HD-MTX)is a widely employed chemotherapy regimen for the treatment of medulloblastoma in pediatric patients.This study is aimed to investigate the risk factors associated with delayed methotrexate excretion and to evaluate the correlation between delayed excretion and the prognosis of the children.Methods A retrospective analysis was conducted on children with medulloblastoma who received high-dose methotrexate(HD-MTX)treatment in the Department of Pediatrics of Beijing Shijitan Hospital,Capital Medical University between January 2019 and December 2020.Clinical data were collected,including gender,age at onset,histological type,molecular subtype,and disease stage.Additionally,24-hour(C24)and 42-hour(C42)blood drug concentrations,as well as blood routine and liver and kidney function indices,were recorded.The Mann-Whitney U test and Kruskal-Wallis H test were used to analyze the differences in blood drug concentrations across various clinical characteristics.Logistic regression analysis was employed to identify risk factors associated with delayed drug excretion.Furthermore,univariate and multivariate survival analyses were conducted using the Cox proportional hazards model.Results A total of 41 children(24 boys,17 girls)with medulloblastoma were enrolled in this study,with a median age of 2.9 years(ranging from 0.6 to 13.6 years)at diagnosis.A total of 167 HD-MTX chemotherapy sessions were conducted,of which 31 sessions(18.6％)exhibited delayed excretion.Intrathecal MTX injection was performed in 133 sessions(80％).C24 levels were significantly elevated in children who did not receive intrathecal injection(P=0.017)and those with leukopenia(P=0.044),and C42 levels were significantly elevated in children aged 3 years or older(P=0.006)and those with cerebrospinal fluid metastasis(P＜0.001).No statistically significant difference in adverse reactions was observed between children with normal excretion and those with delayed excretion.Cerebrospinal fluid metastasis was identified as an independent risk factor for delayed excretion in children with medulloblastoma(P=0.002,OR=4.864,95％CI 1.797-13.167).Delayed MTX excretion was not a factor affecting the prognosis of children with medulloblastoma.Conclusion The HD-MTX treatment exhibits favorable safety in pediatric patients with medulloblastoma.Cerebrospinal fluid metastasis is identified as a risk factor for delayed MTX excretion;however,the delayed excretion does not have a significant impact on the prognosis of the children.

Abstract:Mucosal injury in pediatric patients frequently occurs in delicate mucosal tissues such as the oral cavity,nasal passages,and gastrointestinal tract,as these areas are particularly susceptible to physical trauma or chemical irritation.Effective management of these injuries requires an approach that prioritizes patient safety,treatment efficacy,and the distinct physiological and psychological needs of pediatric patients.This expert consensus recommends core strategies for the repair of mucosal injuries,including the early assessment of injury range,severity and infection risk,and the development of personalized treatment plans tailored to the age and compliance of the child.Key interventions include wound cleaning,protective measures,moist wound healing and appropriate nutritional support,in order to promote healing,while focusing on pain management and infection prevention.Meanwhile,long-term follow-up is necessary to prevent the risk of scarring and functional impairment.This expert consensus aims to provide a practical,evidence-based management plan for the clinical diagnosis and treatment,and optimize the repair strategies for mucosal injuries in pediatric patients.

Abstract:Severe pneumonia is one of the main causes of death from infectious diseases in children.Severe pneumonia can be combined with complications such as atelectasis,and can also lead to sequelae such as obliterated bronchiolitis and bronchiectasis.Pulmonary rehabilitation can reduce the complications and sequelae of pneumonia,improve the respiratory function and improve the quality of life of children by means of airway clearance and respiratory muscle training,playing an important role in the treatment and recovery of severe pneumonia.Comprehensive evaluation and whole-process management should be emphasized in pulmonary rehabilitation of children with severe pneumonia.This article discusses the application,clinical challenges and development prospects of pulmonary rehabilitation in children with severe pneumonia.

Abstract:Inflammatory bowel disease(IBD)is a group of nonspecific chronic gastrointestinal inflammatory diseases with unknown etiology,including Crohn's disease(CD),ulcerative colitis(UC)and undifferentiated IBD(IBD-U),among which IBD with onset less than 6 years old is called very-early-onset inflammatory bowel disease(VEO-1BD).It is a special subgroup in children with IBD.Different from IBD in adults or older children,VEO-IBD has the characteristics of early onset,severe symptoms,and accompanied by perianal lesions.The children can have extensive gastrointestinal symptoms and severe growth retardation,and the effect of traditional drug treatment is poor.With the development and wide application of high-throughput gene sequencing technology,more than 70 related pathogenic genes have been discovered.This article systematically expounds the pathogenesis of VEO-IBD,focusing on the pathogenic mechanism of gene mutations,the microbiota-host relationship,and the guiding significance for precision medicine practice.

Abstract:CATALISE:A Multinational and Multidisciplinary Delphi Consensus Study.Identifying Language Impairments in Children and Phase 2 of CATALISE:a multinational and multidisciplinary Delphi consensus study of problems with language development:Terminology aims to address the problems of inconsistent terminology and identification criteria in the field of childhood language disorder.Based on Delphi research,the consensus collects expert opinions from multiple disciplines and many countries,and it emphasizes that children should be referred for assessment if caregivers,teachers,or professionals express their concerns about children's language,speech,or communication,or if specific warning signs are present.Assessment should be based on interviews,observation,standardized tools and consideration of functional impairment,and focuses on trend and development.The other core contribution of the consensus is the standardization of terminology:"Developmental Language Disorder"specifically denotes primary language disorder without a known biomedical etiology.Crucially,the consensus explicitly states that no nonverbal intelligence level is required,thereby breaking the limit of intelligence threshold of"Specific Language Impairment(SLI)".We advocate for establishing a Chinese support model:a high-quality care model shifting from"passive screening"to"active prevention";meanwhile,establish a multi-disciplinary collaboration system for intervention involving healthcare providers,families and educational institutions,and explicitly incorporate developmental language disorder into the scope of special education services.

Abstract:Developmental dyslexia,a common neurodevelopmental disorder in childhood,is primarily marked by reading proficiency deficits.A wealth of studies have demonstrated that this disorder not only has a detrimental impact on children's academic achievements but also induces a spectrum of cognitive impairments,self-concept disturbances,and emotional disorders,such as anxiety and depression.Given its high prevalence and severe consequences,the academic community's interest in childhood dyslexia has been on the rise.This article,through an extensive review of domestic and international research,analyzes the advances in the study of developmental dyslexia from multiple aspects,including its pathogenesis,comorbidity patterns,assessment and screening approaches,and intervention strategies.The overarching goal is to enhance the abilities of clinical practitioners in evaluating and identifying children with developmental dyslexia,so as to lay a solid groundwork for"mechanism elucidation-early identification-targeted intervention".

Abstract:In eukaryotic cells,the actin polymerization and depolymerization process is regulated by several actin-binding proteins.Among them,WASP is one of the nucleation promoters of actin filament branching,which is specifically expressed only in the hematopoietic system.Upon cellular activation,CDC42 activates WASP,which further promotes actin monomer polymerization and actin filament extension.Precise regulation of the actin-binding proteins in this process is essential for the normal maintenance of the cytoskeleton.WIP defects and ARPC1B defects are two types of actin-related inborn error of immunity immune birth defects with similar clinical manifestations such as thrombocytopenia,which are difficult to differ clinically from WAS syndromes.In this article,we summarize the pathogenic mechanisms,clinical and immunophenotypes,and the current progress of the study of these three clinically similar diseases,providing reference for early recognition and management.

Abstract:Objective To explore the clinical characteristics and outcomes of autoimmune pancreatitis(AIP)in children,and to provide ideas for clinical diagnosis and treatment.Methods Clinical data of 5 children diagnosed with AIP at Beijing Children's Hospital from July 2020 to January 2024 were retrospectively analyzed.The clinical symptoms,treatment methods and follow-up results were analyzed.Results Among the 5 children with AIP,there were 2 cases of type 2 AIP,2 cases were not specified and 1 case might be type 3 AIP.There were 4 boys and 1 girl,with an average age of(10.87±3.86)years.The main clinical manifestations were abdominal pain(4 cases)and jaundice(3 cases).All patients had normal serum IgG4 levels.All children had typical imaging manifestations,including focal pancreatic enlargement in 4 cases and diffuse pancreatic enlargement in 1 case,with 1 case also having a focal pancreatic mass.One child underwent a pathological biopsy,which showed periductal lymphocyte infiltration and interstitial inflammatory changes in the pancreas.All 5 children achieved clinical and imaging remission after hormone treatment.No recurrence was observed during follow-up.Conclusion The incidence of AIP in children is low,the clinical features are not obvious,and the hormone therapy has significant effect.A full understanding of the clinical features of AIP in children is helpful for early identification of AIP and avoiding missed diagnosis and misdiagnosis.

Abstract:Although language and communication impairments are not diagnostic criteria for autism spectrum disorder(ASD),they are commonly observed among children with ASD and significantly impact their cognitive,social,and emotional de-velopment.A systematic and comprehensive assessment not only helps with essential to the early identification of strengths and weaknesses in language and communication abilities but also for the development of personalized intervention plans.This paper systematically reviews the tools and methods available for assessing language and communication abilities in children with ASD,including screening,diagnostic,curriculum-based,and unstructured assessments,as well as applicable neuroscientific evaluation methods.Based on an analysis of current assessment limitations,it proposes future directions for ASD-focused language and communication assessment:the development of a multi-level modular evaluation framework,the integration of multimodal assessment approaches,the advancement of micro-behavioral quantitative coding systems for evaluating pragmatics and social communication,the creation of contextualized task libraries,multi-agent collaborative assessment,and the appropriate application of artificial intelligence technologies.It is expected to provide a reference for the selection of clinical assessment tools and the development of evaluation strategies for language and communication abilities in children with ASD.

Abstract:Objective The aim of this study was to summarize the phenotypic spectrum,treatment and prognosis of epilepsy caused by SCN8A variants.Methods The features of clinical phenotypes and genotypes of epilepsy children with SCN8A variants detected by next-generation sequencing were analyzed.The treatment and prognosis of all patients were followed up.Results Totally 80 epilepsy children with heterozygous SCN8A variants were collected,including 39 males,and 41 females.56 different variation types were identified,including 52 missense variants(one patient with mosaic variant),3 splicing site variants,and 1 insertion variant.76 patients had de novo variants,4 patients had inherited variants.22 variants were not reported previously.The seizure onset age ranged from the first day of life to 6 years and 4 months(Medium:4 months).There are various types of epileptic seizures.The common seizure types included focal seizures(76.2％,61/80),generalized tonic-clonic seizures(26.2％,21/80),and epileptic spasms(20.0％,16/80).81.2％(65/80)of patients had developmental delay.Two patients comorbid with autism spectrum disorder.The EEG exhibited slow background activity(30.0％,24/80).Interictal EEG showed multifocal discharges(21.3％,17/80),generalized discharges(20.0％,16/80),focal discharges(5％,4/80),and hypsarrhythmia(6.3％,5/80).Electrical status epilepticus in slow wave sleep(ESES)was monitored in one patient.Seizures were captured in 35 patients.Brain MRI was abnormal in some patients(57.5％,46/80),including enlargement of subarachnoid spaces in the frontal and temporal region,enlargement of bilateral lateral ventricle,delayed myelination of white matter,agenesis of corpus callosum,and brain atrophy.Totally 13 patients were diagnosed with infantile epileptic spasms syndrome,52 patients with unclassified developmental and epileptic encephalopathy(DEE),15 patients with self-limited(familial)infantile epilepsy(SeLIE).The last follow-up age was ranged from 7 months to 14 year and 6 months(medium:5 year and 11 moths).21(26.2％)patients were seizure free.Two patients were died.57 patients still had seizures at last followed up.Conclusion The variants of most SCN8A-related epilepsy patients were missense variants.The onset of seizure starts during infancy,with focal seizures being the most common seizure types.The phenotypic spectrum varies widely,ranging from mild SeLIE to severe DEE.The efficacy of sodium channel blocker is better than other anti-seizure drugs,but most patients are with refractory epilepsy.

Abstract:Fluency disorders in children mainly include stuttering and cluttering.This article mainly discusses the clinical diagnosis and treatment strategies for childhood stuttering,including diagnosis and differential diagnosis,assessment plans and treatment strategies,and emphasizes an overall intervention model.In addition to improving children's speech fluency and reducing the severity of stuttering,clinical diagnosis and treatment should be an integrated intervention model,covering the child's and family's cognitive level of stuttering,psychological and social status,basic communication functions,and overall language development assessments.It should also integrate traditional direct and indirect approaches to build a comprehensive intervention model of collaboration involving self-awareness of the child,family support,medical institutions,and schools.

Abstract:Collect clinical data of one female patient aged 5 with TANGO2 gene mutation leading to episodic dystonia accompanied by rhabdomyolysis,who was admitted to the Department of Neurology,Baoding Hospital of Beijing Children's Hospital Affiliated to Capital Medical University on December 30,2023.The main symptoms of the patient were rhabdomyolysis after infection,elevated creatine kinase,and hyperammonemia.By analyzing the patient's medical history,physical examination,laboratory tests,and combining the genetic test results,the diagnosis was confirmed as TANGO2 deficiency disorder(TDD).The relevant domestic and international literature was reviewed,summarize the clinical features,diagnosis,and treatment experience of this disease were summarized,and further summarize the clinical characteristics,diagnosis,and treatment of TANGO2 deficiency disorder were further summarized.

Abstract:The clinical data of Takayasu's arteritis with intracerebral hemorrhage in a child were summarized,who received treatment in Department of Rheumatology of Wuhan Children's Hospital of Tongji Medical College of Huazhong University of Science & Technology,and the relevant literature was reviewed,in order to explore the clinical characteristics of Takayasu's arteritis with intracerebral hemorrhage in children.The results showed that a 14-year-old female patient with recurrent fever for 10 months and anorexia and emaciation for 5 months was diagnosed with Takayasu's arteritis by vascular CTA examination.The clinical symptoms were improved by glucocorticoid and immunosuppressive therapy,and then cerebral hemorrhage occurred,which was immediately treated by surgery.The literature review shows that Takayasu's arteritis is rare in children,and the case with intracerebral hemorrhage is even rarer.Once Takayasu's arteritis is confirmed,dynamic monitoring of blood pressure and regular follow-up of craniocerebral imaging are required to be vigilant against the occurrence of aneurysm and intracerebral hemorrhage.

Abstract:Objective To analyze language characteristics differences of children with language delay(LD)and children with typical development(TD)in order to provide evidence for early clinical diagnosis and intervention.Methods Children aged 12-36 months who visited the Child Health Department of Children's Hospital of Chongqing Medical University,China from October 2019 to October 2023 were selected as study participants.The LD group included 502 children diagnosed with LD by physician assessment following parental concerns about exhibiting delayed onset of speech or demonstrating a restricted vocabulary,while the TD group comprised 456 children undergoing routine developmental check-ups during the same period.All participants underwent standardized evaluation using the early language milestones scale.Language characteristics stratified by sex and age were compared between the two groups using analysis of variance.Results Within the LD group,the male-to-female ratio was significantly higher(2.1-4)∶1,and males exhibited lower levels in both language comprehension(MD=-2.630,P=0.015)and expression(MD=-1.938,P=0.015)compared to females.Age-stratified analysis revealed no statistically significant differences in language expressive or comprehension ability between 12-18-month-old children(P＞0.05).Children aged＞18 to 24 months and＞24 to 36 months both scored significantly lower in expressive language than in comprehension language(MD=-8.000 and MD=-3.964,respectively;both P＜0.001).Furthermore,comprehension language scores were significantly lower in children aged＞24 to 36 months compared to those aged＞18 to 24 months(MD=-4.084,P=0.010).Conclusion Male children are more susceptible to LD than females,with greater language impairment severity.Language expressive skills demonstrate marked delays after 18 months of age,while deficits in language comprehension abilities become more pronounced after 24 months of age.It is recommended to pay attention to gender differences in children's language development in clinical practice and to conduct comprehensive screening of children's language abilities at 12 months of age,with regular monitoring continuing beyond 24 months of age,to facilitate early screening,identification,and timely intervention.

Abstract:Primary nephrotic syndrome is the most common glomerular disease in childhood.The 2025 KDIGO Guidelines integrate the latest evidence to update the diagnosis and treatment strategies for childhood steroid-sensitive nephrotic syndrome(SSNS)and steroid-resistant nephrotic syndrome(SRNS).In diagnosis,some definitions are revised,and a"confirmation period"is proposed to clarify the diagnosis of SRNS;prognosis is related to the response to glucocorticoids and the frequency of relapses.In treatment,an 8-12-week regimen of initial glucocorticoids is recommended,with individualized use of glucocorticoids during infections.For frequently relapsing/steroid-dependent nephrotic syndrome(FR/SDNS),combination therapy with steroid-sparing agents[such as calcineurin inhibitors(CNIs),rituximab,etc.]is suggested.For SRNS,genetic testing should be performed as soon as possible,with CNIs as the initial second-line treatment.The outlook indicates that future research should focus on the exploration of shortening the initial course of glucocorticoids,optimizing the selection and dosage of steroid-sparing agents,achieving stratified diagnosis and treatment by integrating genetics and biomarkers,while paying attention to the safety of B-cell depletion therapies and quality-of-life endpoints to promote precision medicine practice.

Abstract:Language disorder is one of the most prevalent developmental disorders in childhood,clinically manifested as significantly delayed language abilities compared to age-matched normal peers.It is frequently comorbid with multiple conditions and often accompanied by psychosocial issues,exerting severe and persistent impacts on children's daily life,academic achievement,and social interactions.Currently,China faces challenges including insufficient disease awareness,insufficient early screening techniques,delayed diagnosis and intervention,and low family engagement.Enhancing early identification,strengthening multidisciplinary collaboration,and delivering early,precise interventions based on comprehensive assessments of children's language development are essential measures for preventing and managing children affected with the disease.