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06 November 2022, Volume 37 Issue 11 Previous Issue   

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Significance and methods of genetic detection of autism spectrum disorder and expert advice Professional Committee of Developmental Behavior of FUTANG Research Center of Pediatric Development 2022, 37(11): 801-803.  DOI: 10.19538/j.ek2022110601 Abstract ( )   Autism spectrum disorder（ASD）is a group of highly heterogeneous neurodevelopmental disorders. The pathogenesis of ASD has not yet been clarified，but studies have confirmed that genetic mutation are major etiology of ASD and ASD-like symptoms. The continuous development of genetic testing technology has laid a good foundation for further clarifying the genetic material changes that can cause ASD and ASD-like symptoms. This article describes related issues and suggestions.

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Emotional behavioral problems in children： A phenomenon that cannot be ignored ZHU Xiang-yu, ZHANG Ni, WANG Duan, et al 2022, 37(11): 804-807.  DOI: 10.19538/j.ek2022110602 Abstract ( )   The incidence of emotional behavioral problems in children is staying at a high level in China，and domestic and overseas studies have shown that tremendous variations in prevalence rates are from 3.8% to 36.9%，but the actual clinical detection rate is not high，mostly found by professional clinicians；parents often turn a blind eye due to lack of relevant knowledge，athus irreversible damage has already occurred when we realize the seriousness of the problem. This article focuses on common emotional behavioral problems in children，which is aimed to arouse the attention of parents and clinicians to this problem，increase everyone’s foresight and crisis awareness，so as to achieve correct understanding and early intervention，avoid further expansion of the emotional problems，and timely guide children’s bad emotions in time，and avoid the occurrence of family tragedy effectively.

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Recognition，prevention and coping strategies of anxiety in children ZHANG Li-li, WANG Lin 2022, 37(11): 808-812.  DOI: 10.19538/j.ek2022110603 Abstract ( )   Anxiety disorder is a common mental disorder among children and adolescents，which affects the psychological development and interpersonal relationship. Since anxiety disorder is hidden in the early stage of children's life，failure in early identification and intervention may cause serious consequences in adolescence. At the same time， there are various manifestations of anxiety in adolescents，which can co-occur with other psychological and behavioral diseases. At present，there is a general shortage of psychological pediatricians in China. Non-psychological pediatricians are in lack of professional knowledge in recognizing the signs of anxiety in the early stage，and further improvement is also needed in the co-occurrence and comprehensive diagnosis of diseases. The necessary measures to prevent and manage children with this disease include strengthening early identification and promoting multi-dimensional and multi-level active health management and precise intervention in the family，school and hospital.

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Recognition，prevention，and coping strategies for depression disorders in children ZHOU Jia-xiu 2022, 37(11): 812-818.  DOI: 10.19538/j.ek2022110604 Abstract ( )   Childhood depression disorder is a serious mental illness that has become a major global public health problem，leading to academic failure，occupational impairment，impairment in social functioning，substance use disorders，adolescent pregnancy，and suicide，but it still remains underrecognized and untreated. Children are not a reduced version of adults，and children's cognitive and language ability and development stage should be taken into account in order to actively perform individualized prevention and managemant，in order to improve the level of children's mental health. This paper systematically expounds the epidemiology，pathogenetic factors， clinical manifestations，prevention and coping strategies of childhood depression.

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Recognition of children's Internet addiction disorder and Hikikomori phenomenon and the coping strategies XIONG Fei 2022, 37(11): 818-822.  DOI: 10.19538/j.ek2022110605 Abstract ( )   With the increasing popularity of the Internet，great changes have taken place in individuals and the way of interaction with society. While the Internet has brought unprecedented convenience，Internet addiction，as a new addiction phenomenon，has attracted extensive attention，especially for children and adolescents， who，at the same time，show various psychological and physiological abnormalities，such as Hikikomori，social withdrawal，depression and so on. This may be a complex social phenomenon and the result of the interaction of social，family and individual psychological factors. In-depth understanding of children's Internet addiction and hikikomori phenomenon and thinking about coping strategies will help to formulate relevant countermeasures on the management of Internet problems.

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Understanding，prevention and coping strategies of school refusal behavior in children and adolescents SUN Ting-ting, YANG Juan 2022, 37(11): 822-828.  DOI: 10.19538/j.ek2022110606 Abstract ( )   School refusal behavior has a significant impact on children and adolescents. This paper synthesizes relevant studies at home and abroad，discusses the understanding of children's school refusal，and puts forward the early preventive measures and coping strategies from the aspect of influencing factors，hoping to be helpful for early prevention，early detection and early intervention of school refusal behavior.

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Understanding， prevention and coping strategies of children's conduct disorder ZHOU Yuan-yue, ZHU Zhi-wei 2022, 37(11): 828-832.  DOI: 10.19538/j.ek2022110607 Abstract ( )   Conduct disorder（CD） is a mental disorder which usually emerges in childhood or adolescents and might lead to antisocial personality disorder in adulthood in some cases. It is characterized by repeated and continuous aggressive and antisocial behavioral pattern. CD affects about 1%～3% of school-aged children and is more seen in boys than in girls. It can be subtyped according to age of onset （childhood onset and adolescence onset）and the presence or absence of callous-unemotional traits （lack of empathy and guilt）. The etiology of CD is complex， with lots of genetic and environmental risk factors and the interaction of genetic and environmental factors. Management of CD mainly involves individual-specific，parent-based or family-based psychosocial interven-tions. Psychiatric medication is sometimes used. The prevention of CD should be targeted to the general population，those exposed to high risk factors and those with prodromal problem behaviors respectively.

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Establishment of early warning scale in patients with systemic juvenile idiopathic arthritis complicated with macrophage activation syndrome TAN Xiao-hua, LI Cai-feng, LI Shi-jie, et al 2022, 37(11): 833-839.  DOI: 10.19538/j.ek2022110608 Abstract ( )   Objective　To summarize the early clinical characteristics， and laboratory and auxiliary examination characteristics of systemic juvenile idiopathic arthritis （sJIA） with macrophage activation syndrome （MAS），and to screen for the detection indicators with warning of MAS diagnosis to form a scale，in order to achieve the goal of identifying and treating the disease early and reducing mortality. Methods　Retrospective analysis was made on the data of patients with sJIA with MAS in the past 10 years from January 2006 to January 2016. The candidate indicators with evaluation significance for early diagnosis of MAS were selected from the above clinical and auxiliary examination observation indicators. Select the best diagnostic limit value （Cut-off value） by ROC curve method. Multivariate logistic regression was used to analyze the independent risk factors of MAS. The effect was expressed as odds ratio （OR） and 95% confidence interval was calculated. After peer review，the weight score of the above factors was quantified and finally an integral table was formed. Results　In 390 patients with sJIA，141 were with MAS. The clinical manifestations of all the patients included high fever， progressive enlargement of liver，spleen and （or） lymph nodes，and involvement of the blood system. The 19 children with central nervous system involvement had central nervous system function. Single factor Logistic regression and ROC curve analysis showed that there were significant differences in 10 variables between MAS group and severe sJIA group（P<0.05）. Logistic regression analysis results showed that：Fib ≤ 3.11g/L；WBC ≤11.0 × 109/L；SF/ESR ≥ 99.4 and PLT ≤ 260 × 109/L were independent risk factors of MAS. The ROC curve of the model was drawn，and the sensitivity and specificity were 92.42% and 81.20%，respectively. After evaluation and voting by 30 professional experts， the patients were diagnosed for MAS respectively，and the weight values of various clinical manifestations and testing and examination items were scored to form an early warning scale. Conclusion　The clinical manifestations combined with the results of auxiliary examinations and using the form of scoring scale can quickly determine whether severe sJIA is combined with early MAS，which is helpful to advance the diagnosis window，improve the diagnostic rate of MAS，reduce missed diagnosis，and provide reference for prospective research.

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Analysis of correlation between chorioamnionitis and early serum PCT levels  in premature infants GU Jie, YUAN Jiao, WANG Jia-pei, et al 2022, 37(11): 840-845.  DOI: 10.19538/j.ek2022110609 Abstract ( )   Objective　To explore the correlation between early serum procalcitonin level （PCT）and degree of placental histological chorioamnionitis（HCA） in premature infants. Methods　A total of 197 premature infants born in the Obstetrics Department of Yinchuan Women and Children Health Care Hospital from January 2016 to January 2018 and transferred to the Neonatal Department within 2 hours after birth were retrospectively selected. They are divided into HCA positive group and normal group according to the placental pathological examination results. According to the chorioamnionitis classification criteria they werre divided into mild，moderate and severe groups.  The clinical data and laboratory examination results were compared among the groups. The correlation between early serum PCT level and HCA degree in premature infants were studied，and  its clinical value in predicting early infection was decided. Results　The gestational age and birth weight of the HCA pathological change group were lower than those of the normal group，the PCT and total bilirubin （TB） levels were higher than those of the normal group， and there were statistical differences （P<0.05）. There was no significant difference in gender，ethnicity，WBC，absolute neutrophil （Neutrophil， NEUT） or CRP between the two groups （P> 0.05）. There were statistical differences in gestational age， white blood cell （WBC），C-reactive protein（CRP），and PCT levels in different degrees of HCA groups（F=5.894～10.200，Z=7.281，P<0.05），in which the severe HCA group and the mild HCA group had significant statistical differences in gestational age，PCT，and WBC（P<0.01）. The gestational age of HCA-positive preterm infants group was negatively correlated with early serum PCT levels（r=-0.221，P<0.05），while serum CRP levels were positively correlated with serum PCT levels （r=0.445，P<0.01）. The sensitivity of serum PCT level of premature infants on admission to the hospital to determine intrauterine infection was 52.3， and the specificity was 82.5.The level of PCT within 2 hours after birth increased in neonatal respiratory distress syndrome （P<0.05）. Conclusion　The early serum PCT level of premature infants increases with the degree of HCA inflammation， which can be used as a biochemical indicator for early judgment of the presence of intrauterine infection and some neonatal infectious diseases. Dyspnea，gestational age，and CRP value can affect the PCT level of HCA-positive preterm infants. PCT increases in neonatal respiratory distress syndrome.

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Clinical features and genetic analysis of 7 cases of familial short stature caused by ACAN gene mutation XU Xuan, HAN Shu, LI Yan-yan, et al 2022, 37(11): 846-852.  DOI: 10.19538/j.ek2022110610 Abstract ( )   Objective　To improve the understanding of the disease and the accuracy of diagnosis by studying the clinical and genetic characteristics of familial short stature caused by ACAN gene mutation and reviewing relevant literature. Methods　The clinical data and genetic test results of 7 children with familial short stature diagnosed from March 2017 to December 2020 by ACAN gene mutation were retrospectively analyzed. Results　All patients were tested by whole exome sequencing （WES），and the results showed that they all had heterozygous mutations in the ACAN gene.Seven patients were from 4 families，including 5 males and 2 females. All the children went to see the doctor due to slow height growth and had a family history of short stature. There were no osteoarthritis manifestations such as joint pain，restricted joint movement or swelling in the medical history. Among them，2 cases had special facial features，which were characterized by wide eye distance，low nose bridge，collapsed nasal ridge，protruding forehead，and dysplasia in the middle of the face； 3 cases had special physical signs with short neck and wide toes； 2 cases had obvious early bone age. After a full-length spine radiography，it was found that，except for 1 case of sacral cracks，no abnormalities were found in the other patients. Conclusion　Heterozygous mutations in ACAN gene can cause short stature in children and have significant family genetic characteristics. Due to the differences in mutations，some patients may be accompanied by early bone age and special appearance and physical signs.

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Transseptal puncture in radiofrequency catheter ablation for paroxysmal supraventricular tachycardia due to left accessory pathway in children： A report of 16 cases LUO Gang, PAN Si-lin, JI Zhi-xian, et al 2022, 37(11): 853-856.  DOI: 10.19538/j.ek2022110611 Abstract ( )   Objective　To explore the feasibility and safety of transseptal puncture（TSP） in radiofrequency catheter ablation for children with paroxysmal supraventricular tachycardia（PSVT） caused by left accessory pathway（LAP）. Methods　From January 2018 to June 2022，16 cases of PSVT caused by LAP received TSP and radiofrequency catheter ablation with three-dimensional mapping system in Heart Center，Women and Children's Hospital，Qingdao University. The clinical data of age，gender， body weight，radiation exposure time，amount of radiation，operative time and complications were summarized. Results　TSP and radiofrequency catheter ablation were successfully performed in all children. The age of the children ranged from 2 to 15 years old，with an average of （8.31±3.59） years old. The body weight of the children ranged from 17 to 77 kg，with a median of 30.50 kg. The median TSP fluoroscopy time of the children was 2.50 min. The mean radiation dose and the mean operation time of the children were （12.83±1.89）mGy/m2 and （116.50±40.64） min. No serious complications occurred. No long-term complications such as residual atrial septal defect，recurrence of arrhythmia or valve injury were found during follow-up. Conclusion　The ablation of PSVT for children's left accessory pathway can be successfully completed by TSP，with good clinical effect. The operation is safe and feasible，and can be promoted in pediatric patients.

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Clinical efficacy analysis of recombinant human granulocyte-macrophage colony stimulation factor combined with recombinant epidermal growth factor in the treatment of chemotherapy-induced oral mucositis in children with acute leukemia ZHANG Lin-lin, CHI Zuo-fei, GU Min, et al 2022, 37(11): 857-860.  DOI: 10.19538/j.ek2022110612 Abstract ( )   Objective　To retrospectively analyze the clinical efficacy of recombinant human granulocyte-macrophage colony stimulation factor （rhGM-CSF） gargle combined with recombinant epidermal growth factor spraying in the treatment of chemotherapy-induced oral mucositis in children with acute leukemia. Methods　A retrospective analysis was performed concerning the data of 107 children with oral mucositis after acute leukemia chemotherapy in the Second Pediatric Hematology Department of Shengjing Hospital Affiliated to China Medical University from September 2021 to April 2022. According to the combined application of rhGM-CSF and recombinant human acidic fibroblast growth factor （rh-aFGF） and the application of rh-aFGF alone，they were divided into a combined treatment group and a single treatment group. There were 51 cases in the combined treatment group and 56 cases in the single treatment group， in the combined treatment group 100ug of rhGM-CSF was added to 250mL of sodium chloride injection，which was put in the refrigerator and gargled 6 times a day （once before and after three meals）. Then rh-aFGF was sprayed externally on the ulcerated oral mucosa，three times a day. The 56 children in the single treatment group were only sprayed with rh-aFGF on the ulcerated oral mucosa，three times a day. Children with oral mucositis began to use therapeutic drugs until the oral mucositis healed. The clinical efficacy on oral mucositis，the healing time of oral mucositis，and the occurrence of adverse drug reactions were compared between the two groups. Results　The effective rate in the combination treatment group was significantly higher than that in the single treatment group （84% vs 68%，P=0.047）. The healing time of oral ulcers in the combination treatment group was significantly shortened，the combination treatment group being（4.80±2.728） d，and the single treatment group being（9.04±2.809）d，（P<0.01）. No adverse reactions occurred during treatment. Conclusion　For children with acute leukemia complicated by chemotherapy-induced oral mucositis，the application of rhGM-CSF gargle combined with rh-aFGF spraying has a significant effect. It can effectively relieve pain and shorten the healing time，which is worthy of promotion.

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Detection of IRF6 gene mutation in a child with popliteal ptergium syndrome and the family SUN Yi-dan, SUN Xiao-han, QU Hui, et al 2022, 37(11): 861-864.  DOI: 10.19538/j.ek2022110613 Abstract ( )   Objective　To analyze the collected clinical manifestations of a case of popliteal ptergium syndrome （PPS） and conduct mutation detection of the IRF6 gene in order to raise awareness of the disease. Methods　The child with PPS and the family were investigated，and clinical examinations and pedigree analysis was conducted to summarize the clinical data of the patients. A primer amplification coding region and its adjacent splicing intron sequences were designed in the IRF6 gene，and the mutation of the IRF6 gene was detected by segmented PCR and DNA sequencing comparison. Results　The collected PPS pedigrees were in accordance with autosomal dominant genetic characteristics. Both the proband and her mother suffered from cleft lip （palatoschisis），bilateral popliteal ptergium，and developmental malformation of the vulva. The 4th extron on IRF6 gene of the child and her mother was found a hybrid nucleotide variation on c.251G>A （the nucleotide number of the coding region changed from G to A），which caused that the 84th amino acid Arg was changed to His （p. Arg84His），defined as a missense variant. Conclusion　The mutation of IRF6 gene is found in the case and the family，and the mutation c.251G>A is found in the 4th extron. The missense mutation may be the pathogenic factor of PPS.It can provide reference basis for gene diagnosis and genetic counseling.

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Transbronchial cryobiopsy in the diagnosis of pediatric diffuse parenchymal lung disease QIN Xu, CHEN Xiao-bo, LU Li-ya, et al 2022, 37(11): 865-867.  DOI: 10.19538/j.ek2022110614 Abstract ( )   Pathological diagnosis plays an important role in the clinical diagnosis and treatment of diffuse parenchymal lung disease in adults and the way of obtaining lung tissue is the basis for pathological diagnosis，which includes surgical lung biopsy，transbronchial lung biopsy and transbronchial cryobiopsy. Transbronchial cryobiopsy is the first-line method instead of transbronchial lung biopsy which may leads to inadequate and incomplete structure of lung tissue，and surgical lung biopsy which is associated with serious complications following surgery. This paper presents the application of transbronchial cryobiopsy in children while few case have been reported globally.

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Research progress in pyroptosis participating in the pathophysiology of pulmonary arterial hypertension SUN Hong-xiao, PAN Si-lin 2022, 37(11): 868-871.  DOI: 10.19538/j.ek2022110615 Abstract ( )

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Diagnosis and treatment progress in achalasia in children CHI Bi-yun, ZHANG Han-hua, SHAO Pei, et al 2022, 37(11): 872-876.  DOI: 10.19538/j.ek2022110616 Abstract ( )

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One case report on Cockayne syndrome SHEN Xiao-yan, RUAN Wen-cong, LI Hai-feng 2022, 37(11): 877-880.  DOI: 10.19538/j.ek2022110617 Abstract ( )