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Journal Information
Journal of Clinical Pediatrics
(Monthly, founded in 1983)
Governed by:Shanghai Jiao Tong University
Sponsored by:Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine
   
Published by:Editorial Office of Journal of Clinical Pediatrics
Editor-in-Chief:SUN Kun
Address:1665 Kongjiang Road, Yangpu District, Shanghai.
Postal Code:200092
Phone:(021)25076489
E-mail: jcperke@126.com

Table of Content

    15 December 2024 Volume 42 Issue 12
      
    Commentary
    Current situation and prospect of multidisciplinary diagnosis and treatment of vertigo disease in children
    MA Ning, ZHANG Jie
    Journal of Clinical Pediatrics. 2024, 42(12):  987-991.  doi:10.12372/jcp.2024.24e1046
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    The etiology of vertigo in children is complex and involves multiple clinical departments. Children's vertigo also has certain special characteristics. Therefore, its diagnosis and treatment are difficult. This article analyzes the clinical diagnostic and treatment points of childhood vertigo from various specialties and proposes a multidisciplinary treatment model to promote precise diagnosis and standardized comprehensive treatment of childhood vertigo diseases, ultimately improving the identification rate of diseases, symptom remission rate, and long-term prognosis.

    Expert Review
    Vestibular infant screening and its clinical significance
    JIN Yulian, SHEN Jiali, CHEN Jianyong, YANG Jun
    Journal of Clinical Pediatrics. 2024, 42(12):  992-995.  doi:10.12372/jcp.2024.24e0985
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    Vestibular dysfunction (VD) is commonly associated with hearing impairment in infants, underscoring the necessity for vestibular function screening and assessment. Early detection and diagnosis of VD through vestibular function screening, followed by prompt intervention and rehabilitation, are crucial for mitigating the adverse effects of VD and have significant clinical implications. This paper discusses the methods and applicability of vestibular infant screening, as well as the optimal timing for such screenings, to enhance the clinical understanding of vestibular function examination in infants.

    Discussion on diagnosis and treatment of common diseases of vertigo in children
    JIANG Tao, LI Wenyan
    Journal of Clinical Pediatrics. 2024, 42(12):  996-1000.  doi:10.12372/jcp.2024.24e0990
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    The diagnosis and treatment of pediatric vertigo present a multidisciplinary clinical challenge due to children's difficulty in accurately describing their symptoms and their limited cooperation during vestibular function tests, which often hinders systematic evaluation and standardized treatment in clinical settings. This article, authored from the perspective of otolaryngologists, offers an analysis of approaches and considerations for diagnosing and treating pediatric vertigo, aiming to enhance clinicians' understanding of these disorders.

    Original Article
    Reliability and validity evaluation of the Chinese version of pediatric vestibular symptom questionnaire
    SHU Wenzhuo, MA Xiaobao, SHEN Jiali, WANG Wei, WANG Lu, SUN Jin, HE Kuan, JIN Yulian, YANG Jun, CHEN Jianyong
    Journal of Clinical Pediatrics. 2024, 42(12):  1001-1005.  doi:10.12372/jcp.2024.24e0966
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    Objective To assess the reliability and validity of the Chinese version of pediatric vestibular symptom questionnaire (C-PVSQ) and to establish a quantitative tool for the assessment of vestibular related dizziness or vertigo symptoms in children. Methods The PVSQ was translated into Chinese using the cross-cultural translation method. The questionnaire consisted of 10 questions, each of which was scored according to the symptoms of the children, with a total score of 30 points. A total of 85 children aged 6-17 years old with dizziness, vertigo or balance disorder who visited the clinic of Hearing Impairment and vertigo Diagnosis and Treatment Center from November 2023 to June 2024 were selected as the study objects. The reliability and validity of C-PVSQ were evaluated. Results The test-retest reliability coefficient of the total score of C-PVSQ was 0.97>0.70 (P<0.01); Cronbach α coefficient of internal consistency test was 0.83. By exploratory factor analysis, the KMO value was 0.801, and Bartlett sphericity test showed P<0.001. Factors with feature root value >1 were extracted, and three common factors were obtained, namely "dizziness factor" (questions 1 and 4), "balance factor" (questions 2, 8 and 9), and "vertigo-related symptoms" (questions 3, 6, 7 and 10), with a total cumulative contribution rate of 66.1%. Conclusions The C-PVSQ exhibits strong reliability and validity and can effectively assess symptoms and severity related to dizziness, vertigo, or balance disorders in children.

    Difference analysis of vestibular migraine clinical features between children and adults
    AN Junjun, LIU Xiuli, TIAN Lijuan, WANG Luyang, HAN Wei
    Journal of Clinical Pediatrics. 2024, 42(12):  1006-1009.  doi:10.12372/jcp.2024.24e0986
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    Objective This study aimed to explore the differences in clinical characteristics, hearing, and vestibular function test results between children with vestibular migraine (VMC) and adults with vestibular migraine (VM), in order to provide a reference for the diagnosis and treatment of VMC. Methods We retrospectively analyzed the clinical data of patients diagnosed with VMC and VM in the vertigo specialist clinic from January 2022 to July 2024 and compared the clinical features between the two groups. Results A total of 186 patients were included, comprising 92 patients with VMC (44 boys and 48 girls) with a median age of 10.0 years (range 6.3 to 13.0 years), and 94 adult patients with VM (23 males and 71 females) with a median age of 52.0 years (range 35.0 to 61.3 years). The proportion of males in the VMC group was significantly higher than that in the adult VM group (P<0.01). A significant majority of VMC patients (84.8%) had a clear family history and 81.5% had a unique personal history, both of which were significantly higher than in adult VM patients (57.4% and 63.8%, P<0.01). The abnormal rates of auditory function, positive rate of head shaking nystagmus, abnormal rate of CP value in the temperature test, and abnormal rates of cervical vestibular evoked myogenic potential and video head impulse test in VMC patients were all lower than those in VM patients, with statistically significant differences between the groups (P<0.05). Conclusions There was no significant gender difference in VMC patients, whereas adult VM patients were predominantly female. VMC patients often have a significant personal and family history. Auditory vestibular dysfunction can also occur in VMC patients, but the severity is less than in adult VM patients.

    Causes, clinical features, and prognosis of dizziness and vertigo in children: an 18-year retrospective analysis at a single center
    ZENG Xiangli, ZHENG Liangrong, DAI Yongqiang, YIN Gendi, HUANG Qiling, MOU Yikun, QIN Feng, ZHANG Shuqi, LI Lingwei, LI Zhicheng
    Journal of Clinical Pediatrics. 2024, 42(12):  1010-1014.  doi:10.12372/jcp.2024.24e0997
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    Objective To explore the etiology of vertigo and dizziness in children and the characteristics of diagnosis and treatment of chronic vertigo and dizziness. Methods The clinical diagnosis and treatment data of children with vertigo and dizziness in the Vertigo Center from January 2006 to June 2024 were retrospectively analyzed. The etiology, treatment, and prognosis of chronic vertigo and dizziness in children were analyzed. Results A total of 208 children with vertigo and dizziness (115 girls and 93 boys) were included, and the median age of onset was 9.8 years (14 months to 18 years). Among them, 34 patients (16.3%) had chronic vertigo and dizziness, and the median age of onset was 12.0 (7.0-17.0) years. Among the 34 children with chronic vertigo and dizziness, 20 children (58.9%) had psychophysiological dizziness, 7 were left-behind children, 5 were from single-parent families in urban areas, 3 were from families reorganized after parental divorce, and 5 were from normal families with initial vestibular peripheral diseases. There were 5 cases of orthostatic hypotension, 3 cases of idiopathic intracranial hypertension, 2 cases of encephalitis convalescence, 2 cases of traumatic emergency disorder, and 2 cases of other causes. The prognosis of 34 patients with chronic vertigo and dizziness was good after targeted treatment according to the etiology. Conclusions The etiology and prognosis of chronic vertigo and dizziness in children are quite different from those in adults. The etiology is mainly psychogenic vertigo and the prognosis is good. A multidisciplinary approach is crucial for the diagnosis and treatment of vertigo and dizziness in children.

    Clinical study on the influence of vertigo on cognitive function in children
    JIE Huiqun, SHU Wenzhuo, GAO Dekun, MA Xiaobao, SHEN Jiali, ZHANG Fan, WANG Wei, WANG Lu, JIN Yulian, YANG Jun, CHENG Lan, CHEN Jianyong
    Journal of Clinical Pediatrics. 2024, 42(12):  1015-1020.  doi:10.12372/jcp.2024.24e1007
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    Objective By analyzing the event related potentials (ERPs) of vertigo and normal children, this study aims to explore the effects of vertigo on cognitive function in children, and provide theoretical guidance for clinical intervention. Methods The children aged 6 to 17 years old who presented with symptoms of dizziness, vertigo, and balance disorders at hearing impairment and vertigo diagnosis and treatment center were selected from January to August 2024 as the study subjects (vertigo group), and healthy children of similar age during the same period were selected as the control group. Both groups underwent auditory Oddball paradigm stimulation, and event-related potential (ERPs) components, including P1, N1, P2, N2, and P3, were recorded. The latency and amplitude differences of each component were compared between the two groups. Results There were 33 children (14 boys and 19 girls) in vertigo group, and the average age was (10.2±2.7) years. The control group consisted of 16 children (12 boys and 4 females), with an average age of (9.8±2.5) years. The amplitudes of N1 and N2 in the vertigo group were significantly lower than those in the control group, with statistical significance (P<0.05), while the amplitudes of residual components and latency of all components between the two groups had no statistical significance (P>0.05). The latency and amplitude of all ERPs components in vertigo group and control group had no significant correlation with age (P>0.05). Conclusions Vertigo in children affects their cognitive function, primarily in the early stages of perception and cognitive control, with less impact on higher cognitive processing, indicating that children with vertigo may reduce perception, conflict processing, and cognitive control abilities.

    Williams syndrome children's distorted product otoacoustic emission characteristics: a retrospective analysis of 76 patients at a single center
    HU Kexin, LI Fangfang, ZENG Yan, CHEN Weijun, JI Chai
    Journal of Clinical Pediatrics. 2024, 42(12):  1021-1024.  doi:10.12372/jcp.2024.24e0652
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    Objective To analyze the characteristics of distorted product otoacoustic emissions (DPOAE) in children with Williams syndrome (WS) and provide clinical basis for the follow-up of the target population in the future. Methods Children with WS who were diagnosed and followed up in the Department of Pediatric Health Care from June 2019 to June 2023 were selected as the study objects. Children who came to the hospital for routine physical examination during the same period were taken as the control group. The difference of DPOAE between WS group and control group and the difference of DPOAE among WS children of different ages were compared. Results A total of 76 children with WS (42 boys and 34 girls) were included, with a median age of 4.7 (2.6-6.7) years. The control group consisted of 51 patients (32 boys and 19 girls) with a median age of 3.9 (2.9-5.2) years. There was no significant difference in DPOAE passing rate among different age groups in WS group (P>0.05). The DPOAE passing rate of WS group was 78.8%, lower than that of control group (97.0%), and the difference was statistically significant (P<0.001). In the 3-5 year-old group, the passing rate of DPOAE in the WS group was 76.6%, lower than that of the control group (96.7%). In the group of 6 years or older, the passing rate of DPOAE in the WS group was 69.6%, lower than that in the control group (100%), and the differences were statistically significant (P<0.05). There were statistically significant differences in the signal-to-noise ratio (SNR) of 2000Hz and 4000Hz between different age groups in WS (P<0.05). The SNR of 2000Hz in the 3 to 5 years old group was lower than that of the < 3 years old group, and the SNR of 2000Hz and 4000Hz in the ≥6 years old group was lower than that of the < 3 years old group, with statistical significance (P<0.05). The SNR of DPOAE at 2000, 3000, 4000 and 5000Hz at all ages in WS group was lower than that in the control group, with statistical significance (P<0.05). Conclusions Hearing screening abnormality is very common in children with WS, and there are manifestations of subclinical hearing loss. It is recommended to carry out long-term regular hearing follow-up for this group in order to detect hearing loss early and take corresponding intervention measures in time.

    Role of anti-tissue transglutaminase IgA antibody titer and HLA-DQ typing in the diagnosis of type 1 diabetes mellitus with celiac disease
    HAO Huiling, ZHANG Gaixiu, FENG Mei
    Journal of Clinical Pediatrics. 2024, 42(12):  1025-1031.  doi:10.12372/jcp.2024.23e1154
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    Objective To investigate the predictive value of anti-tissue transglutaminase IgA (IgA-anti-tTG) antibody titers and human leukocyte antigen (HLA) -DQ typing in the occurrence of type 1 diabetes mellitus (T1DM) associated with celiac disease (CD). Methods All T1DM children<18 years old who visited the endocrinology department from November 2019 to November 2023 and healthy children who underwent physical examination during the same period were selected as the study objects. All participants underwent serological analysis and detection of CD-related HLA alleles (DQ2 and DQ8). All children with positive IgA-anti-tTG antibody underwent duodenal pathological biopsy (Marsh grade). The correlation between IgA-anti-tTG titer and Marsh classification was analyzed. ROC curve was used to evaluate the diagnostic value of IgA-anti-tTG in predicting CD. Results A total of 577 patients with T1DM were enrolled, of whom 314 (54.4%) were females with a median age of 10.0 (5.0 to 16.0) years. The control group consisted of 150 patients, including 72 females (48.0%), with a median age of 9.5 (6.0 to 17.0) years. In the T1DM group, 77 patients (13.3%) had a positive IgA-anti-tTG antibody response (>18 IU/L), of whom 60 (77.6%) had positive duodenal histopathology. Nineteen children were in Marsh 2 stage, 4 were in Marsh 3a stage, 18 were in Marsh 3b stage, 19 were in Marsh 3c stage, and all of whom were diagnosed with CD. The remaining 17 patients had negative duodenal histopathology, and after other tests, they were finally diagnosed with wheat allergy or gluten sensitivity. Duodenal pathological biopsy was also performed in 46 children in the T1DM group who were negative for IgA-anti-tTG antibody but still had glut-dependent symptoms. Among them, 21 patients were found to be Marsh stage 2 or 3 and were also diagnosed as CD. Finally, a total of 81 children were identified as having T1DM combined with CD. Spearman correlation analysis showed a significant positive correlation between IgA-anti-tTG antibody level and Marsh stage in 81 children with T1DM and CD (rs=0.76, P<0.001). The area under ROC curve (AUC) of IgA-anti-tTG antibody titers predicting CD-positive was 0.83 (95%CI: 0.72-0.93). The optimal cutoff threshold for IgA-anti-tTG antibody titer was 87.65 IU/L, and its sensitivity and specificity for predicting CD were 83.19% and 92.20%. The serum IgA-anti-tTG antibody reaction in the control group was negative. There was no significant difference in HLA-DQ typing distribution between T1DM group with CD and without CD (P>0.05). Conclusions The titer of IgA-anti-tTG antibody has a certain value in the diagnosis of T1DM children complicated with CD, and HLA typing may be an auxiliary screening method for serum antibody detection results.

    Clinical efficacy analysis of AVDC/ICE regimen in the treatment of 10 pediatric extracranial malignant rhabdoid tumors
    FENG Shuyue, ZHANG Heng, SUN Mengjiao, FANG Yongjun
    Journal of Clinical Pediatrics. 2024, 42(12):  1032-1038.  doi:10.12372/jcp.2024.24e0019
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    Objective This study aims to assess the therapeutic effectiveness of the AVDC/ICE regimen for children diagnosed with extracranial malignant rhabdoid tumors (MRT). Methods A retrospective analysis was conducted on 10 pediatric cases of extracranial MRT treated with the AVDC/ICE from January 2020 to January 2023. Results Clinical data from 10 pediatric patients with extracranial MRT were analyzed. The gender distribution was balanced (1:1), with a median age at diagnosis of 24.5 months (range 1-138 months). Three patients had distant metastases at diagnosis, predominantly in the lungs. The average size of primary tumors at diagnosis was (9.87±5.42) cm. Two patients with malignant rhabdoid tumor of the kidney (MRTK) experienced tumor rupture before surgery. Following pathological confirmation, all patients received the AVDC/ICE chemotherapy regimen. At the last follow-up, seven patients achieved complete remission (CR), one patient achieved partial remission (PR) and was receiving maintenance therapy with bevacizumab, sorafenib, and cyclophosphamide. Two patients with extra-renal extracranial rhabdoid tumor (EERT) succumbed to metastasis. The median follow-up was 14 months (range 5-28 months), with a one-year overall survival (OS) rate of 78.8% and a one-year event-free survival (EFS) rate of 68.6%. No severe treatment-related adverse events were observed. Conclusion The AVDC/ICE regimen emerges as a safe and effective chemotherapy option for managing extracranial MRT in pediatric patients.

    A clinical and prognosis study of five patients with cerebral creatine deficiency syndrome 2 caused by GAMT gene mutations
    YANG Lei, FANG Fang, SONG Tianyu, XU Chaolong
    Journal of Clinical Pediatrics. 2024, 42(12):  1039-1046.  doi:10.12372/jcp.2024.24e0300
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    Objective To analyse the clinical features, imaging characteristics and prognosis of patients diagnosed with cerebral creatine deficiency syndrome type 2 (CCDS2) caused by variations in the guanidinoacetate methyltransferase (GAMT) gene. Methods To retrospectively analyse the clinical data of five patients diagnosed with CCDS2 due to GAMT gene mutations from January 2016 to March 2024. The analysis focused on the age of disease onset, clinical symptoms, laboratory findings, treatment approaches, and prognosis. Results There were 3 males and 2 females, age of onset 1.5 (1.0-1.5) years old, all patients presented with developmental delay and seizures, with 4 cases exhibiting drug-refractory epilepsy and 3 cases also showing autistic-like behaviors. Brain magnetic resonance spectroscopy (MRS) showed a significant decrease in cerebral creatine peaks in all 5 cases, and 2 cases showed abnormal signals in the brainstem with or without basal ganglia on brain magnetic resonance imaging (MRI). In all patients, blood or urine creatine metabolism tests showed a significant decrease in creatine and an increase in guanidinoacetate. Four patients received treatment with creatine supplementation and guanidinoacetate-lowering therapy, resulting in complete seizure control after 2 weeks to 10 months, discontinuation of anti-seizure medications, and varying degrees of improvement in motor and speech development. Conclusion CCDS2 due to variants in the GAMT gene usually presents with developmental delay with drug refractory epilepsy, partly combined with autistic-like behavior, and lacks specificity. Brain MRS and creatine metabolite testing may aid in genetic diagnosis, and treatment with creatine supplementation and guanidinoacetate lowering may be effective in controlling seizures and improving prognosis.

    Clinical Report
    A case report of a rare case of diffuse pulmonary lymphangiomatosis with bronchoscopic presentation
    ZENG Xiangni, WU Aimin, LI Lan, TU Hongqiang, ZHOU Junlin, FAN Jinxing
    Journal of Clinical Pediatrics. 2024, 42(12):  1047-1050.  doi:10.12372/jcp.2024.24e0285
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    This study retrospectively analyzed the bronchoscopic manifestations in a pediatric case of diffuse pulmonary lymphangiomatosis (DPL), aiming to provide references for its early diagnosis. The child came to our hospital in August presented with “intermittent hemoptysis for 2 years and 8 months”, Despite previous left bronchial artery embolization, the hemoptysis persisted., and the qualitative test of ferritin was positive in several times of tracheoscopic lavage. After more than 2 years of oral corticosteroid therapy, the patient continued to experience recurrent hemoptysis.Ultimately, lung resection and pathological examination confirmed the diagnosis of DPL.This paper summarizes the bronchoscopic findings, noting that in the early stages, nodular protrusions visible under the bronchoscope exhibited an “appear-disappear” phenomenon, resembling a valve. Nine months later, a follow-up bronchoscopy revealed thin-walled vesicular manifestations under the bronchial mucosa at the same site, along with external compression of bronchial subsegments. These findings suggest that bronchoscopy can provide valuable insights for the early detection of DPL.

    Literature Review
    Research progress in gene therapy for MUT-type methylmalonic acidemia
    Reviewer: DING Yi, YU Yue, Reviser: HAN Lianshu
    Journal of Clinical Pediatrics. 2024, 42(12):  1051-1055.  doi:10.12372/jcp.2024.24e0274
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    MUT-type methylmalonic acidemia (MMA) is an autosomal monogenic genetic disorder caused by mutations in the MMUT gene, which can involve multiple organ damage, mainly brain damage, and has a high mortality rate. Diet therapy, levocarnitine and vitamin B12 therapy are the main treatment method for MUT-type MMA, and some severe patients need liver and kidney transplantation, but the treatment effect and prognosis are poor. Gene therapy for MUT-type MMA using various vectors in animal model and phase 1/2 study are underway. Gene therapy in MUT-type MMA clinical trials is still in an early stage and provides a new treatment method. This article reviews the current status of gene therapy research for MUT-type MMA and aims to guide future research.

    Progress in testicular microlithiasis in children
    Reviewer: GAO Ruoying, Reviser: QIAO Xiaohong
    Journal of Clinical Pediatrics. 2024, 42(12):  1056-1062.  doi:10.12372/jcp.2024.23e1122
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    Testicular microlithiasis (TML) is a relatively rare disease associated with testicular tumors and male infertility. The incidence of TML is on the rise, peaking around the age of 11 years old. While the etiology and pathogenesis remain to be fully elucidated, and its occurrence is related to testicular injury, genetic predisposition, infections, dietary habits, lifestyle choices, and underlying medical conditions. Ultrasoundimaging serves as the primary diagnostic tool for TML, playing a crucial role in its classification and grading. The treatment of TML is mainly management of these complications. Children with TML who have a history of germ cell tumors, undescended testes, post-orchiopexy, testicular atrophy with a volume of less than 12 mL, a family history of germ cell tumors, or related genetic disorders require close observation and should be promptly referred to specialists upon detection of any abnormalities. Furthermore, cases exhibiting focal lesions or significant calcifications on ultrasound warrant immediate referral to specialists.

    Continuing Medical Education
    The characteristics of narrative language in children with high-functioning autism
    CHEN Rouan, LU Haidan, XU Mingyu
    Journal of Clinical Pediatrics. 2024, 42(12):  1063-1066.  doi:10.12372/jcp.2024.23e1227
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    Research conducted internationally has identified specific linguistic characteristics in the narrative abilities of children with high-functioning autism, primarily evident in phonetics, semantics, grammar, and pragmatics. These characteristics contribute to their expressive deficits and pose challenges in social interactions. This paper reviews recent studies on the narrative language features of children with high-functioning autism, both domestically and abroad, providing a theoretical foundation to enhance scientific interventions and support for autistic children whose first language is Chinese.