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06 July 2025, Volume 40 Issue 7 Previous Issue   

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Interpretation of the KDIGO 2025 clinical practice guideline for the management of nephrotic syndrome in children WANG Jing-jing, MAO Jian-hua 2025, 40(7): 529-534.  DOI: 10.19538/j.ek2025070601 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.

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Interpretation of consensus on multidisciplinary identifying and terminology pertaining to developmental language disorders in children ZHANG Yi-wen, LIN Yuan-yuan 2025, 40(7): 535-540.  DOI: 10.19538/j.ek2025070602 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.

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Prioritizing the diagnosis and treatment of comorbid language disorders and associated conditions in attention deficit hyperactivity disorder CHEN Li 2025, 40(7): 541-544.  DOI: 10.19538/j.ek2025070603 Abstract ( )   This article provides a comprehensive examination of the definition of language disorder and the related problems，focusing on the clinical presentation of children with attention-deficit hyperactivity disorder（ADHD）comorbid with language disorder and speech sound disorder.It explores the influence of language disorder on ADHD and specific learning disorder，while also identifying key areas requiring further research.The study underscores the critical role of early identification of language disorder and associated conditions in the diagnosis and treatment of complex ADHD. Additionally，it offers evidence-based insights to advance standardized diagnosis and treatment of children with ADHD and associated conditions and scientific management in China.

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Early characteristics and intervention of language disorders in children WANG Lin 2025, 40(7): 545-548.  DOI: 10.19538/j.ek2025070604 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.

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Research advances in the assessment of language and communication abilities in children with autism spectrum disorder LIU Qiao-yun 2025, 40(7): 548-554.  DOI: 10.19538/j.ek2025070605 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 development.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.

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Diagnosis and treatment advances in childhood speech sound disorders LI Yue-chang , HU Yun-yi, HUANG Kai-yi 2025, 40(7): 555-558.  DOI: 10.19538/j.ek2025070606 Abstract ( )   Childhood speech sound disorders is a common problem of language development，characterized by pronunciation abnormalities and phonological processing difficulties. This article sorts out the latest advances in this field, focusing on classification，assessment，and intervention approaches.Modern classification divides speech sound disorders into organic and functional disorders，with the latter comprising of articulation and phonological disorders.Contemporary assessment combines standardized tools with error pattern analysis to enhance diagnostic accuracy. Intervention strategies demonstrate diversification：minimal pair therapy proves effective for phonological disorders，while systematic articulation training benefits articulation disorders.The analysis of this article extends to personalized treatment principles, offering evidence-based guidance for clinical practice.

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Diagnosis and treatment strategies for children with speech fluency disorders WANG Lin, YANG Feng 2025, 40(7): 558-563.  DOI: 10.19538/j.ek2025070607 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.

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Research progress in children’s developmental dyslexia YANG Xiu-jie, CHEN Jie, ZHAO Ning-xin, et al 2025, 40(7): 563-569.  DOI: 10.19538/j.ek2025070608 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”.

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A study of language characteristics in 502 young children with language delay based on gender and age stratification ZHU Lin, DING Yuan, TAN Juan, et al 2025, 40(7): 570-575.  DOI: 10.19538/j.ek2025070609 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 checkups 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.

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Phenotypic spectrum，treatment and prognosis of 80 cases of epilepsy associated with SCN8A variantion LI Yuan, LIU Wen-wei, CHENG Miao-miao, et al 2025, 40(7): 576-581.  DOI: 10.19538/j.ek2025070610 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.Totally13 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.

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Clinical analysis of 5 child patients with autoimmune pancreatitis YU Xiao-zheng, WU Jie 2025, 40(7): 582-585.  DOI: 10.19538/j.ek2025070611 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.

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Actin-related inborn error of immunity with thrombocytopenia：a meta-analysis MA Shi-yun, AN Yun-fei, ZHAO Xiao-dong 2025, 40(7): 586-592.  DOI: 10.19538/j.ek2025070612 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.

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Research status in the pathogenesis of very-early-onset inflammatory bowel disease XIAO Xiong, ZHOU Juan, ZHAO Hong-mei, et al 2025, 40(7): 593-600.  DOI: 10.19538/j.ek2025070613 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-IBD）. 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.

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Report on 3 cases of infantile fatty liver disease LI Xue-song, SHU Sai-nan, CHEN Fan, et al 2025, 40(7): 601-607.  DOI: 10.19538/j.ek2025070614 Abstract ( )   A retrospective analysis was conducted concerning the clinical manifestations，biochemical indicators，liver tissue pathology features，genetic testing，and follow-up results of infantile fatty liver disease caused by different etiologies in 3 cases collected from 2018 to 2023.Additionally，relevant literature was reviewed to explore diagnostic and therapeutic strategies for infantile fatty liver disease， in order to provide reference for early accurate diagnosis and improving prognosis of infantile fatty liver disease The results showed that among the three cases，two were male and one was female，with onset age ranging from 2 to 7 months.Case 1 and Case 3 initially presented with cholestasis，while Case 2 presented with abnormal transaminase levels.The primary clinical manifestations and auxiliary examination features included：Case 1 was with cholestasis，elevated transaminases，increased AFP levels，hypoglycemia，coagulation dysfunction，hyperornithinemia，hepatomegaly and hepatic steatosis，harboring a homozygous mutation c.852-855del in the SLC25A13 gene.Case 2 presented with elevated transaminases，hypertriglyceridemia，increased total bile acids and bilirubin，along with hepatomegaly，hepatic steatosis，and liver fibrosis，having a heterozygous mutation c.220-2A>G and c.806G>A（p.R269Q）in the GPD1 gene.Case 3 exhibited cholestasis，elevated transaminases，coagulation dysfunction，hepatomegaly，and steatosis，accompanied by neurological symptoms，with a homozygous mutation c.207G>C（p.W69C）in the MPV17 gene.After dietary management and hepatoprotective and choleretic treatment，Cases 1 and 2 recovered well，while Case 3 died of liver failure. The causes of infantile fatty liver disease are complex，and clinical diagnosis and treatment require a comprehensive assessment of biochemical indicators，coagulation function，and physical examination. Genetic testing helps to clarify the etiology.

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A case of paroxysmal dystonia with rhabdomyolysis caused by a TANGO2 gene mutation LI Huan-huan, REN Shu-hong, DING Chang-hong 2025, 40(7): 608-612.  DOI: 10.19538/j.ek2025070615 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.

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Takayasu’s arteritis complicated with intracerebral hemorrhage in a child：a case report and literature review CHEN Jing, WU Ya-li, LIU Fan, et al 2025, 40(7): 613-616.  DOI: 10.19538/j.ek2025070616 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.