Table of Content

10 July 2022, Volume 30 Issue 7

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Professional Forum

Clinical characteristics and neonatal early combined screening practice of primary immunodeficiency disease and spinal muscular atrophy

YANG Ru-lai

2022, 30(7):  697-701.  DOI: 10.11852/zgetbjzz2022-0657

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Primary immunodeficiency disease (PID) and spinal muscular atrophy (SMA) are genetic birth defects caused by gene mutations that seriously affect children's health and even lead to death.Early detection,timely diagnosis and treatment are the key to better prognosis.Neonatal screening is an effective means to achieve early diagnosis and intervention.In recent years,neonatal screening in some countries and regions have included SMA,severe combined immunodeficiency disease (SCID) (the most severe disease of PID) and X-linked aglobulinemia (XLA) (the most common B-cell deficiency disease of PID).Zhejiang province is the first in China to carry out neonatal combined screening for SCID,XLA and SMA,which has greatly increased screening efficiency,advanced tertiary prevention of birth defects,significantly improved the prognosis of patients,enhanced their quality of life and reduced mortality.

Original Articles

Clinical characteristics of speech fluency disorder in 44 children with spastic cerebral palsy aged 5 to 7 years

LIANG Wei-jian, DING Zhong-bing, LI Meng-ya

2022, 30(7):  702-705.  DOI: 10.11852/zgetbjzz2021-1325

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Objective To analyze the clinical characteristics of speech fluency disorder in children with spastic cerebral palsy aged 5 - 7 years based on the language task of talking about pictures, so as to provide reference for improving speech fluency. Methods From November to December 2020, 44 children with spastic cerebral palsy and 44 typically developed (TD) children in Shanghai who met the admission standards were enrolled in this study. The theme pictures of doing housework were used as test materials to collect voice samples. The differences in speech rate, pause, prolongation and repetition between children in two groups were analyzed. Results The speech rate and articulation rate of children with spastic cerebral palsy scored significantly lower than those of TD children (t＝-44.288, -25.665, P<0.05), while the number of abnormal pauses, the length of abnormal pauses, the number of prolongations, the length of prolongations and the number of repetitions of children with spastic cerebral palsy scored significantly higher than those of TD children (t=28.891, 39.188, 28.960, 18.393, 26.246, P<0.05). Conclusion Children with spastic cerebral palsy aged 5 to 7 years have typical characteristics of speech fluency disorder in the process of continuous speech, such as slow speech rate, abnormal pause, prolongation and repetition.

Relationship between muscle mass and cardiovascular disease risk factors in children and adolescents

TAO Jia-hui, CHEN Lin-lin, MA Yu, DING Qin-qin, WANG Qiu-jing, DING Wen-qing

2022, 30(7):  706-710.  DOI: 10.11852/zgetbjzz2021-1483

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Objective To explore the relationship between muscle mass and risk factors of cardiovascular disease in children and adolescents, so as to provide theoretical basis for early prevention of cardiovascular disease. Methods A current situation study design was adopted. A total of 1 622 children and adolescents aged 12 to 17 years in Yinchuan, Ningxia were selected into this study by cluster sampling from 2017 to 2020. All participants were investigated by questionnaire, and took physical measurements, laboratory examination and body composition examination. Results Total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C) were negatively correlated with skeletal muscle mass index (SMMI) (r＝-0.105,-0.094,P<0.001). Triglyceride(TG) was negatively correlated with skeletal muscle mass (SMM) (r＝-0.067,P<0.01). The risks of hypertension, high TC and high TG in adolescents with high SMMI were 0.60 (95%CI: 0.37 - 0.97), 0.54 (95%CI: 0.33 - 0.89) and 0.53 (95%CI: 0.32 - 0.87) times higher than those in adolescents with low SMMI (P<0.05). The risk of hyperlipidemia in adolescents with good and sufficient SMMI was 0.32 (95%CI: 0.15 - 0.70) and 0.23 (95%CI: 0.08 - 0.65) times higher than that in adolescents severe deficiency of SMMI (P<0.05).The risk of dyslipidemia in adolescents with good SMMI was 0.44 (95%CI: 0.22 - 0.89) times higher than that in adolescents with severe SMMI deficiency (P<0.05). Conclusions There is a close correlation between muscle mass and risk factors of cardiovascular disease in children and adolescents. Low muscle mass is a risk factor for hypertension and hyperlipidemia.

Efficacy of lower limb rehabilitation robot training combined with family posture management on motor function in children with cerebral palsy

XIONG Hua-chun, ZHOU Zhi-heng, ZHOU Yang-ping, WANG Jun, ZHU Deng-na, CHEN Jing-hui

2022, 30(7):  711-714.  DOI: 10.11852/zgetbjzz2021-1888

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Objective To explore the efficacy of lower limb rehabilitation robot training combined with family posture management on motor function of children with cerebral palsy, so as to provide theoretical basis for rehabilitation treatment of children with cerebral palsy. Methods From March 2020 to March 2021, a total of 120 children with spastic cerebral palsy treated in the outpatient or inpatient Department of Pediatric Rehabilitation of the Third Affiliated Hospital of Zhengzhou University were randomly divided into 4 groups: control group,observation group A, observation group B and observation group C, with 30 cases in each group.The control group only received routine rehabilitation training, observation group A was given Lokomat Pro lower limb rehabilitation robot training and family posture management additionally, observation group B was given lower limb rehabilitation robot training combined with routine rehabilitation training, observation group C was given family posture management combined with routine rehabilitation training. All children in four groups were treated for 3 months. Their gross motor function, balance function and daily living activities were evaluated by Gross Motor Function Measure-88 (GMFM-88) D and E, Berg Balance Scale (BBS) and Modified Marthel Index (MBI) before and 3 months after treatment, respectively. Then the evaluation results were analyzed and compared among the four groups. Results After 3 months of treatment, the total scores of GMFM-88 D and E dimension, BBS and MBI in the 4 groups were improved compared with those before treatment(P<0.01). The total scores of GMFM-88 D and E dimension and BBS significantly decreased in sequence: observation group A> observation group B> observation group C>control group (F=14.083, 13.051,P<0.001). MBI score was higher in the following sequence: observation group A> observation group B (observation group C)> control group, and the difference was statistically significant (F=6.177,P=0.001), but there was no significant difference between observation group B and observation group C (t＝0.057, P>0.05). Conclusion Lower limb rehabilitation robot training combined with family posture management is more effective in improving gross motor function, balance function and activities of daily living in children with cerebral palsy, which is worth popularizing and being applied in children with cerebral palsy.

Current status and influencing factors of fasting plasma glucose of children aged 5 - 6 years in Tianjin

LU Xiao-zhe, LI Wei-qin, QIAO Yi-juan, ZHANG Tao, LENG Jun-hong

2022, 30(7):  715-719.  DOI: 10.11852/zgetbjzz2022-0161

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Objective To investigate the current status of fasting plasma glucose(FPG) in children aged 5 to 6 years in Tianjin, and to understand the influencing factors of FPG levels and impaired fasting glucose(IFG) in children for early prevention of adult chronic diseases. Methods A cross-sectional survey was conducted, children aged 5 to 6 in 49 kindergartens from 15 administrative districts of Tianjin were selected using the cluster sampling method from March to June 2018. Children's height and weight were measured, fasting fingertip blood was collected to test FPG, and questionnaires were collected on children's diet, exercise and lifestyle. Results The average FPG level of 5 942 children aged 5 to 6 years was (4.77±0.38)mmol/L, and the detection rate of IFG(FPG≥5.6 mmol/L) was 0.82%. Multivariate linear regression results showed that boys had higher FPG levels than girls(β=0.140, P＜0.001), children living in urban areas had higher FPG levels than suburban children(β=0.126, P＜0.001), overweight and obese children had higher FPG levels than normal-weight children(β＝0.059, 0.072, P＜0.001), and the FPG level of children with daytime exercise time ＜0.5 h/d was higher than that of children with exercise time≥2 h/d(β=0.031, P＜0.05). The results of multivariate Logistic regression showed that boys(OR=2.245, 95%CI:1.204 - 4.186), living in urban area(OR=2.112, 95%CI:1.169 - 3.817) and frequency of intake of sugary drinks ≥3 times /week(OR=7.724, 95%CI:1.725 - 34.579) were risk factors for IFG in children(P＜0.05). Conclusion Early screening of FPG and healthy lifestyle intervention for preschool children are of important public health significance for the early prevention of adult chronic diseases.

Association of sedentary time, physical activity with overweight and obesity in children

ZENG Xia, HUANG Ji-tian, CHEN Ya-jun

2022, 30(7):  720-724.  DOI: 10.11852/zgetbjzz2022-0370

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Objective To explore the combined associations of after-school sedentary time(ST) and daily physical activity(PA) with children's overweight and obesity, so as to provide basis for formulating prevention and control strategies for children's overweight and obesity from the perspective of PA patterns. Methods Using stratified cluster random sampling method, 3 936 children aged 7 to 12 years in Guangzhou were recruited from March to June 2017. Children's PA and ST were assessed using a reliable and valid questionnaire. Overweight and obesity were determined according to the standards established by the Working Group on Obesity in China. After-school ST ≥2 h/d was regarded as high ST, and daily participation in moderate to high-intensity PA ≥60 min/d was regarded as high PA. Participants were finally cross-classified into four groups. Results The overall overweight and obesity rate of children aged 7 to 12 in Guangzhou was 21.5%. The prevalence rates of overweight and obesity in low ST/high PA group, low ST/low PA group, high ST/high PA group and high ST/low PA group were 18.9%,17.8%,23.1% and 22.3%, respectively. Compared with children in the low ST/ high PA group, children in the high ST/high PA group(OR=1.286, 95%CI:1.078 - 1.724), and high ST/low PA group(OR=1.219, 95%CI:1.059 - 1.641) had a higher risk for overweight and obesity. Conclusion PA and ST have a combined association with children's overweight and obesity, suggesting that intervention efforts should focus on ST reduction in addition to promoting PA.

Association of different status of iron and anemia with neurobehavioral development in children aged 6 to 24 months

ZHENG Juan, LIU Jie, YANG Wen-han

2022, 30(7):  725-730.  DOI: 10.11852/zgetbjzz2022-0413

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Objective To explore the association of different status of iron and anemia with neurobehavioral development in children aged 6 to 24 months, so as to provide suggestions for early intervention of children with neurobehavioral development deviation. Methods A total of 322 children aged 6 to 24 months, who underwent physical examination in Department of Child Health, Maternity and Child Health Hospital of Baiyun District, Guangzhou from January 1st to December 31st, 2020, were selected into this cross-sectional study voluntarily. Blood routine, serum ferritin, C-reactive protein and α-1-acid glycoprotein test for the venous blood were used to determine the status of iron and anemia. The neurobehavioral development was assessed by the China Developmental Scale for Children aged 0 to 6 years. Results The prevalence rates of anemia and iron deficiency in children aged 6 to 24 months were 8.07% and 11.49%, respectively. Iron deficiency anemia was negatively correlated with the development of gross motor(β=-6.70, 95%CI:-12.84 --0.56), fine motor(β=-6.27, 95%CI:-11.87 - -0.68) and adaptive ability(β=-6.19, 95%CI:-11.91 - -0.47) of children aged 6 to 24 months. There was a negative correlation between iron deficiency with no-anemia and the development of fine motor(β=-1.65, 95%CI:-3.19 - -0.10) and adaptive ability(β=-2.24, 95%CI:-3.86 - -0.63) of children aged 6 to 24 months. Non-iron-deficiency anemia was negatively related to the development of gross motor(β=-1.52, 95%CI:-2.92 - -0.16), fine motor(β=-1.46, 95%CI:-2.70 - -0.23) and adaptive ability(β=-1.39, 95%CI:-2.68 - -0.11) of children aged 6 to 24 months. Conclusions Both iron deficiency and anemia are negatively correlated with the neurobehavioral development of children aged 6~24 months, which may have adverse effects, and its mechanism needs to be further explored.

Basic Experimental Articles

Genome-wide changes of H2BK120ub1 inmouse neural tube defect embryos induced by retinoic acid

WANG Shan, HE Xue-jia, CHENG Xi-yue, LIN Ye, PEI Pei, ZHAN Xiao-jun

2022, 30(7):  731-736.  DOI: 10.11852/zgetbjzz2021-1609

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Objective To analyze the difference in genome-wide profile of H2BK120 monoubiquitination (H2BK120ub1) modification in embryonic brain tissue between E10.5 day normal mice and mice with retinoic acid (RA)-induced neural tube defects (NTDs) by chromatin immunoprecipitation sequencing (ChIP-seq), and to explore the relationship between H2BK120ub1 modification and gene expression in the neural tube development pathway, so as to provide a biological target for the diagnosis and treatment of NTDs. Methods The pregnant mice were randomly divided into control group and RA-induced NTDs group. DNA of samples was extracted by ChIP-seq. The compared reads were obtained, then peak analysis of whole genome, GO enrichment analysis of the biological functions of the related peak genes were conducted. Results Totally 306 genes displayed significant H2BK120ub1 differences between control group and NTDs group. The top three genes in the cellular component were Cell (82 genes), Cell part (82 genes), and Organelle part (52 genes). The top three genes in the biological process were celluar process (68 genes), metabolic process (47 genes) and biological regulation (40 genes). The results of KEGG pathway analysis were mainly enriched in differential genes involved in key signaling pathways that regulate long plate chondro-genesis such as hedgehog factor (HH) signaling pathway, TGF-beta signaling pathway and Wnt signaling pathway(P<0.05). Conclusion H2BK120ub1 may be a potential biomarker or a promising target for epigenetic-based NTDs disease treatment.

Review

Research advances in NBAS gene defect

ZHOU Yan-shan, TAN Shu-jiang

2022, 30(7):  737-740.  DOI: 10.11852/zgetbjzz2021-0133

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Neuroblastoma amplified sequence(NBAS) gene deficiency can lead to autosomal recessive hereditary disease, which is a rare genetic defect. Besides, NBAS gene deficiency can affect multiple systems. The main clinical manifestations include short stature, optic atrophy, Pelger-Huet cell malformation and febrile related liver failure. This article mainly reviews the possible pathogenesis of NBAS gene defects, the relationship between gene defects and phenotypes, clinical manifestations, treatment, diagnosis, and prognosis of NBAS gene defects.

Research progress on motor function assessments and their clinical applications in spinal muscular atrophy

ZHOU Chun-ming, CHEN Tu-rong, CHEN Yi, CAO Jian-guo

2022, 30(7):  741-745.  DOI: 10.11852/zgetbjzz2021-0558

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Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease mainly characterized by progressive muscle weakness and atrophy.SMA has a large number of subtypes and a wide range of motor functions involved.Currently, the assessment of motor function for SMA mainly includes muscle strength, walking ability and mobility, but no consensus has been reached.This review aims to provide a brief overview of current assessment tools related to motor function commonly used in SMA patients

Research progress on the osteoporosis in patients with Turner syndrome

LIU Fang, ZHANG Mei, BAN Bo

2022, 30(7):  746-749.  DOI: 10.11852/zgetbjzz2021-0805

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Turner syndrome (TS) is a common sex chromosome abnormality disease in women and coexists with many diseases. More and more evidences have showed that TS patients have a high prevalence of osteoporosis. This article reviews research progress in risk factors, management and treatment of osteoporosis in TS in recent years.


Advances in the mechanism, assessment and intervention of developmental stuttering

MA Dan, ZHANG Wen-li, CAO Ling, ZHANG Ling, QU Hai-bo

2022, 30(7):  750-754.  DOI: 10.11852/zgetbjzz2021-0665

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Developmental stuttering is a language disorder characterized by repetition of words or sounds, lengthened and paused language rhythm disorder, which is still inconclusive in etiology. There may be secondary associated with motor spasms. Children who stutter may begin to show behavioral, emotional, and social development disorders as early as the age of 3, which are already evident in older children who stutter. Therefore, it is necessary to provide timely interventions to prevent children from serious mental health problems in their future life. This review summarizes the pathogenesis and evaluation methods of stuttering, expounds the treatment methods of stuttering, and takes an outlook at the imaging and treatment prospects of stuttering.

Role of protein glycosylation in pediatric central nervous system disorders

REN Yu-qian, CHEN Jin-jin

2022, 30(7):  755-758.  DOI: 10.11852/zgetbjzz2021-0768

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Protein glycosylation is an important post-translational modification, which plays an important role in the formation of protein function and structure.It is involved in many biological activities, such as cell adhesion, migration, intercellular communication, receptor activation, signal transduction and so on.In recent years, it has been found that a variety of glycosylation pathways are involved in the process of brain development.Abnormal glycosylation protein expression has a negative impact on brain development and participates in the occurrence and development of nervous system diseases.In this review, the effects of glycosylation modification of proteins on neural function and the central nervous system diseases in children caused by abnormal glycosylation are discussed, which provides a new perspective for finding new diagnostic biomarkers and therapeutic targets in pediatric central nervous system disorders.

Research progress in abnormal birth weight and neurobehavioral development of children and adolescents

LIU Yu, YANG Xin-jun

2022, 30(7):  759-763.  DOI: 10.11852/zgetbjzz2021-1075

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Abnormal birth weight not only affects the physical growth of newborns, but also affects the neurobehavioral development of infants, children and adolescents and even adults.This paper reviews the population-based studies on the effects of abnormal birth weight on neurobehavioral development among children and adolescents from the perspectives of low birth weight infants and macrosomia, finding that low birth weight infants are more prone to cerebral palsy, attention deficit hyperactivity disorder, cognitive impairment and low learning ability in children and adolescents than normal birth weight infants.Macrosomia might increase the risk of abnormal motor function and emotional and behavioral development in children and adolescents.However, the correlation of macrosomia with intelligence quotient (IQ)/cognitive function and academic achievement in children and adolescents varies in related studies.To identify the impact of abnormal birth weight on neurobehavioral development among children and adolescents, it is necessary to further implement a large sample of prospective cohort studies.


Meta Analysis

Meta-analysis of the prevalence of non-alcoholic fatty liver disease in Chinese children

WANG Yu, YANG Zhi-ran, CHEN Run-hua

2022, 30(7):  764-769.  DOI: 10.11852/zgetbjzz2021-1338

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Objective To systematically evaluate the prevalence of non-alcoholic fatty liver disease (NAFLD) in Chinese children and obese children, so as to provide basis for epidemiological studies and clinical prevention and treatment of NAFLD. Methods CNKI, VIP, WanFang Data, CBM, PubMed, Cochrane Library, Embase and Web of Science were searched to collect studies on the prevalence of NAFLD in Chinese children and obese children from 2000 to 2021 in home and abroad.Meta-analysis was performed using R language (version 4.0.5).Random effect model was used to merge data, funnel plot, Egger's test and Begg's test were used to evaluate the risk of bias. Results A total of 25 studies were included, including 8 studies on the prevalence of NAFLD in children, and 17 studies on the prevalence of NAFLD in obese children.The total sample size of the study was 35 300, and the sample size of obese children was 7 649.Meta-analysis showed that the prevalence of NAFLD in Chinese children was 6.3% (95%CI: 4.6% - 7.9%), and the prevalence of NAFLD in obese children was 40.4% (95%CI: 31.5% - 49.9%).Subgroup analysis showed that the prevalence of NAFLD was significantly different by gender, research areas and research time. Conclusions The prevalence of NAFLD among Chinese children and obesity children is relatively high.NAFLD in children is gradually becoming one of the major public health problems in China.

Systematic review on the effect of motor skills intervention on fundamental motor skills of children and adolescents with intellectual disabilities

SHU Yao, ZHANG Ying-bo

2022, 30(7):  770-774.  DOI: 10.11852/zgetbjzz2021-1468

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Objective To systematically analyze the methodological characteristics and effects of motor skill interventions on the fundamental motor skills for children and adolescents with intellectual disabilities (ID) from related articles in home and abroad. Methods Articles were searched from the five databases from the establishment of the database to June 3rd, 2021, including CNKI, Wan Fang Data, EBSCO-SPORT, Web of Science and PubMed. Related data including countries and regions, experimental design, samples, interventions, evaluations and results were extracted. The methodological quality of the included articles was evaluated by PEDro. Results A total of 11 articles were included, and the effective intervention was 100%. The intervention content focused on balance, strength and coordination, mainly were low-intensive games. The appropriate intervention lasted for 6 to 8 weeks, with the frequency of 2 to 3 times/ week, 40 to 60 min/time. BOTMP was the most used evaluation tool, and the evaluation dimensions mainly focused on balance skills. Conclusions Motor skills intervention can effectively improve the fundamental motor skills of children and adolescents with ID. It is recommended to enrich the content of interventions, improve the quality of research, strengthen relevant researches on Chinese samples, and develop scientific and effective tools for evaluating fundamental motor skills of children and adolescents with ID.

Clinical Research

Correlation between cognitive function and serum vitamin D level in children with benign epilepsy with centrotemporal spikes co-morbid with attention deficit hyperactivity disorder

FANG Hai-bo, WANG Rong, CHU Lin-na, FENG Yan-fang, BAI Rong-rong, GUO Feng-tong

2022, 30(7):  775-778.  DOI: 10.11852/zgetbjzz2021-1676

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Objective To analyze the correlation between cognitive function and serum vitamin D(VitD) level in children with benign epilepsy with centrotemporal spikes (BECT) co-morbid with attention deficit hyperactivity disorder (ADHD), in order to provide new ideas for the prevention and treatment of the cognitive impairment for these children. Methods Eighty BECT co-morbid with ADHD children who were first diagnosed from January 2020 to August 2021 were selected as the study subjects, meanwhile seventy children with the same age who underwent physical examination were enrolled into the control group. WISC-Ⅳ was used to evaluate the cognitive function of the children in two groups. Serum VitD level was detected by elecsys. Spearman correlation analysis was adopted between serum VitD level and the scores of WISC in the two groups. Results Compared with the control group, serum VitD overall level and VitD level of the subgroup with normal VitD level in children of BECT co-morbid with ADHD group were significantly lower (t=4.98, 8.56, P<0.05). In terms of WISC-Ⅳ assessment, the VCI,PRI,WMI,PSI and FSIQ scores of BECT co-morbid with ADHD group were significantly lower than those of control group(t=12.38, 17.84, 13.67, 11.20, 15.17, P<0.05). And the scores of VCI, PRI, WMI, PSI and FSIQ in the three subgroups of BECT co-morbid with ADHD group were significantly lower than those in the control group (t=9.28, 6.74, 5.37, 14.80, 7.67, 8.48, 11.64, 5.42, 6.40, 7.23, 8.16, 4.92, 11.50, 8.01, 6.41, P<0.05). Spearman correlation analysis showed that serum VitD level was positively correlated with VCI, PRI and FSIQ scores in children with BECT and co-morbid with ADHD (r=0.272, 0.276, 0.225, P<0.05), but not significantly correlated with WMI and PSI scores (r=0.154, 0.160, P>0.05). Conclusion Children with BECT and co-morbid with ADHD may have impaired cognitive function, and their serum VitD level is decreasing, which is correlated with the change of partial cognitive function.

Factors affecting the motor development of preterm infants assessed by Alberta Infant Motor Scale

HE Jiao-ji, LIU Xiao-mei, TANG Meng-yan, LUO Hong, YANG Su-fei, PENG Wen-tao

2022, 30(7):  779-782.  DOI: 10.11852/zgetbjzz2021-1388

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Objective To know about the motor development status of preterm infants, and to identify its influencing factors, so as to provide evidence for constructing early motor intervention model for preterm infants after discharge. Methods A convenience sampling method was used to select 361 preterm infants, who were born from November 2018 to March 2019 and registered in the Child Healthcare Department of West China Second University Hospital. Alberta Infant Motor Scale(AIMS) score of infants at the corrected age of 3 months old was used as the outcome indicator of motor development. Results Among 361 preterm infants, 311(86.1%) had normal motor performance(AIMS score >P₂₅), and 40(11.1%) showed suspect motor performance(P₁₁≤AIMS score≤P₂₅), and only 10(2.8%) had atypical motor development or motor delay(AIMS score≤P₁₀). Logistic regression analysis showed that weight at the corrected age of 3 months old(OR=0.347, 95%CI:0.174 - 0.691, P=0.003) and female(OR=0.415, 95%CI:0.202 - 0.850, P=0.016) were protective factors for motor delay of preterm infants. Conclusions The early motor development of preterm infants after discharge is generally good. However, it is still necessary to pay more attention to the preterm infants who are boys, especially those with slower body weight catch-up.

Exploration of continuous intervention methods for children's oral health based on Plan-Do-Check-Action cycle

LI Na, DAI Tai-ming, DUAN Xu-bo, GUAN Min, XIE Ben-jun, WANG Chao-zheng, WANG Ting-cai, YANG Wei

2022, 30(7):  783-786.  DOI: 10.11852/zgetbjzz2021-1669

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Objective To explore continuous intervention methods to effectively improve oral health cognition, promote healthy behaviors, and improve the oral health status of children with primary and permanent tooth alternation in rural areas. Methods From March to October 2021, oral health education and behavioral interventions based on the Plan-Do-Check-Action (PDCA) cycle were carried out for second-grade children in a township school in Guiyang City for 6 months. The changes in oral health cognition, behavior habits and oral hygiene status of the children were observed in 3 months and 6 months after intervention. Results At the baseline survey, the total awareness rate of oral health knowledge, the rate of self-reported good behavior habits, plaque index and caries status value were 48.1%, 52.7%, 1.86±1.12, 1.53±0.62, respectively, which were 81.3%, 75.6%, 0.94±0.67, 1.39±0.68 in three months after intervention, and the difference was significant (χ²=175.072, 123.768, t=8.800, 2.381,P＜0.05). At six months, the total awareness rate of oral health knowledge and the rate of self-reported good behavior habits were 76.9% and 71.2%, respectively, which were significantly different from those in three months after intervention(χ²=4.170, 5.193, P＜0.05).The plaque index in six months after intervention was 1.07±0.73, which was not significantly different compared with that in three months. Conclusions Continuous intervention can effectively improve children's oral health awareness and promote the development of healthy behavior, but the maintenance of long-term effects needs to be continuously strengthened. Besides, it is suggested to improve the intervention program in the future from the perspective of organizational form and evaluation system.

Experience Exchange

Association of serum NFP and Nrf2 levels with early brain injury in neonatal asphyxia

LIU Jian-hong, HUANG Fang

2022, 30(7):  787-791.  DOI: 10.11852/zgetbjzz2021-1071

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Objective To analyze the association of the expression levels of serum neurofilament protein (NFP) and nuclear factor-erythroid 2-related factor-2 (Nrf2) in neonates with asphyxia, in order to provide theoretical reference for the diagnosis of early brain injury in neonatal asphyxia. Methods From May 2019 to April 2021, 91 full-term neonates with asphyxia admitted to Department of Neonatology, the Second Clinical Medical College of Yangtze University were selected as study subjects, and were divided into mild asphyxia group (n=40) and severe asphyxia group(n=51) according to Apgar score and umbilical artery blood gas analysis. Besides, neonates were divided into brain injury group (n=36) and non-brain injury group (n=55) according to the results of head MRI examination. Meanwhile, 50 full-term neonates without history of asphyxia and hypoxia, neurological disease and intrauterine infection, who were delivered in the Obstetrics Department of this hospital, were enrolled into the control group. Enzyme-linked immunosorbent (ELISA) method was used to detect serum NFP and Nrf2 expression levels. Pearson analysis was used to analyze the correlation of serum NFP and Nrf2 levels of the neonates in brain injury group with the score of Neonatal Behavioral Neurological Assessment (NBNA). ROC curve was used to analyze the diagnostic value of serum NFP and Nrf2 levels in the diagnosis of early brain injury in neonatal asphyxia. Results Serum NFP and Nrf2 levels of newborns in the mild asphyxia group and severe asphyxia group were significantly higher than those of the control group, and the NBNA score was significantly lower than that of the control group (F=294.939, 208.932, 286.915, P<0.001). Compared with newborns in the mild asphyxia group, serum NFP and Nrf2 levels of the newborns in the severe asphyxia group were significantly higher, and the NBNA score of the newborns was significantly lower (P<0.001). The levels of serum NFP and Nrf2 in neonates of the brain injury group were significantly higher than those of the non-brain injury group, and the NBNA score was significantly lower than that of the non-brain injury group (t=12.841, 12.539, 14.248, P<0.001). Pearson correlation analysis showed that serum NFP and Nrf2 levels of neonates in the brain injury group were negatively correlated with NBNA score (r＝-0.527,-0.401, P<0.001). The sensitivity and specificity of serum NFP combined with Nrf2 in the diagnosis of early brain injury in neonatal asphyxia was 94.44% and 81.82%, respectively, and the area under the curve was 0.925. Conclusions Serum NFP and Nrf2 levels in neonates with asphyxia are higher, which are associated with early brain injury of neonatal asphyxia. The combined detection of serum NFP and Nrf2 has a higher diagnostic value for the early brain injury of neonatal asphyxia.

Application of screening indices for methylmalonic acidemia in Zibo city

DONG Li-ping, ZHANG Zhen, CUI Yan-guo, LI Qing-bo

2022, 30(7):  792-795.  DOI: 10.11852/zgetbjzz2021-0641

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Objective To understand distribution characteristics of the concentration of relevant indicators in neonatal methylmalonic academia (MMA) screening by tandem mass spectrometry technology, and to evaluate the application value of 3-hydroxyhexadecenoyl carnitine (C16:1-OH) in the interpretation of MMA diseases, so as to provide basis for improving the positive predictive value of MMA screening and screening efficiency. Methods A total of 185 239 local newborns born between October 2013 and July 2019 were conducted MMA screening using tandem mass spectrometry technology.The levels of MMA disease-related indicators were compared among children in different gender, gestational age and birth weight groups.The initial screening levels were compared with re-examination indicator levels of confirmed samples. Results A total of 44 cases were diagnosed, 5 cases with simple type, 39 cases with combined type, and the overall prevalence was about 0.023 7%(44/185 239).Grouped by gender, gestational age and birth weight, free carnitine (C0), propionyl carnitine (C3), propionyl carnitine/free carnitine (C3/C0), propionyl carnitine/acetyl carnitine (C3/C2), C16:1-OH and methionine (MET) and other index concentration value distribution differences were statistically significant (P＜0.001).Compared with the results of initial screening, the level of C3/C2 in the re-examination samples was significantly higher (Z=5.10,P＜0.001), while the C16:1-OH level in the re-examination samples was significantly lower (Z=5.236, P＜0.001).The area under the ROC curve of the C16:1-OH indicator was 0.951 (95%CI: 0.914 - 0.987), and the weight index was approximately 15.46. Conclusions When screening MMA in neonates, medical staff are suggested give comprehensive interpretation based on the time of blood collection, birth weight and gestational age so as to reduce the positive rate of initial screening.The C16:1-OH indicator is helpful in the interpretation of MMA disease in the primary screening sample (blood sampling from 3 to 7 days after birth), and can effectively improve the positive predictive value and screening efficiency, thereby achieving early diagnosis, early treatment, and reducing the rate of disability.

Influencing factors of asthma in children from the plateau area

XU Yan, LIU Dong-hai, LIANG Xuan, GUO Li, DAI Yong-li, ZHANG Rong-fang

2022, 30(7):  796-800.  DOI: 10.11852/zgetbjzz2022-0202

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Objective To investigate the risk factors of asthma in children aged 0 to 14 years from the plateau area, in order to provide clinical guidance for asthma prevention. Methods From January 1st to December 31st, 2020, 33 asthmatic children in Gansu Provincial Maternal and Child Health Hospital were selected into the case group, and 44 non-asthmatic children with matched gender and age were selected into the control group. A self-designed asthma questionnaire was used to analyze the influencing factors of asthma in children from the plateau area. Results The onset season of asthma in children from the plateau area was variable(12 cases, 36.4%) or the incidence was high(11 cases, 33%) from September to November, and the onset was easy at midnight(12 cases, 36.4%). The main causes were respiratory tract infection(13 cases, 39.4%) and exposure to cold air(7 cases, 21.2%). Asthma restricted children's physical activity(26 cases, 78.8%) and increased family financial burden. Logistic multivariate regression analysis showed that previous diagnosis of asthma(OR=3.660, 95%CI:1.498 - 6.549), respiratory tract infection history(OR=2.660, 95%CI:1.409 - 7.291), premature infants(OR=2.413, 95%CI:1.380 - 4.356), family members smoking(OR=2.834, 95%CI:1.501 - 5.487) and early use of antibiotics(OR=4.328, 95%CI:3.384 - 8.645) were risk factors for childhood asthma(P<0.05), while exclusive breastfeeding for 6 months after birth(OR=0.057, 95%CI:0.008 - 0.411) was a protective factor for childhood asthma(P<0.05). Conclusion In plateau area where oxygen is scarce, parents should actively avoid risk factors for childhood asthma and choose exclusive breastfeeding as much as possible during infancy, which is of great significance for the prevention and control of childhood asthma in plateau area.

Appropriate Technology

Effects of eccentric exercise combined with constraint-induced movement therapy on the upper limb function and surface electromyography characteristics in children with spastic hemiplegic cerebral palsy

LU Zu-tao, NI Yu-fei, GU Qiu-yan, XU Ren-jie, GE Xiang-yang

2022, 30(7):  801-805.  DOI: 10.11852/zgetbjzz2022-0114

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Objective To observe the effects of eccentric exercise combined with constraint-induced movement therapy(CIMT) on the upper limb function and activities of daily living in children with spastic hemiplegic cerebral palsy, so as to provide reference for the clinical treatment and rehabilitation. Methods A total of 42 children with spastic hemiplegic cerebral palsy, who were treated in Nantong Maternal and Child Health Care Hospital from January 2020 to June 2021 and met the inclusion criteria, were enrolled in this study and were randomly divided into combined group(n=21) and control group(n=21). Both combined group and control group received traditional rehabilitation and CIMT, while the combined group received eccentric exercise therapy additionally. The upper limb flexor muscle tension, upper limb and hand function and activities of daily living of the two groups were assessed by the modified Ashworth scale(MAS), Carroll upper extremities functional test(UEFT), modified Barthel index(MBI) and root mean square value(RMS) of the surface electromyography of the biceps brachii, and were compared before and after 12-week treatment. Results Before treatment, the MAS score, UEFT score, MBI score and RMS of the surface electromyography of the biceps brachii were not significantly different between combined group and control group(P＞0.05). After 12 weeks of treatment, both UEFT score and MBI score of the two groups were significantly improved than those before treatment(P＜0.05), and the scores of the combined group increased more significantly than the control group(t=2.641, 7.258, P＜0.05). The MAS scores and RMS in the two groups were significantly lower than those before treatment(P＜0.05), and the scores of the combined group were significantly lower than those of the control group(Z=2.706, t=3.623, P＜0.05). Conclusions Eccentric contraction training combined with CIMT can improve the tension of the elbow flexion muscle, the upper limb motor function and activities of daily living in children with spastic hemiplegic cerebral palsy, which is worthy of wide use in clinic.

Case Report

Case report and literature review on PPP2R1A gene mutation-associated intellectual disability, microcephalus and corpus callosum agenesis

LI Si-xiu, LIU Ping, DENG Jia, CHEN Jia-lei, MAO Dan-dan, HU Wen-guang

2022, 30(7):  809-812.  DOI: 10.11852/zgetbjzz2021-1909

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Objective To summarize the clinical features and genotypic-phenotypic correlation of PPP2R1A gene variation, so as to provide reference for clinical diagnosis. Methods The medical record of the child with PPP2R1A gene variation diagnosed in July 2021 was retrospectively analyzed. The relevant studies of PPP2R1A gene variation were retrieved. Results The case was a 2-year-old boy manifested with intellectual disability, developmental delay, microcephalus, long face, hypotonia, and corpus callosum agenesis. The whole exome-sequencing test identified a de novo heterozygous variation p.R258H in the PPP2R1A gene. So far, there has been no report of PPP2R1A variation on Chinese journals, but a total of 37 cases have been reported worldwide. All variations of cases were de novo missense mutations (a total of 17 single nucleotide variants), of which p.R182W and p.M180T were the most common sites. The PPP2R1A-related disorder had at least two distinguishable phenotypic subgroups. Common features included moderate to severe intellectual disability (91.2%), developmental delay (78.9%) and hypotonia (86.8%). The least severely affected subgroup encompassed variants in p.F141I, p.T178N/S, and p.M180T/V/K/R, characterized with macrocephaly, absence of seizures. The severely affected subgroup consisted of variants in p.P179L, p.R182W, p.R183W/Q, p.S219L, p.V220M, and p.R258S, characterized with microcephaly, a long face, seizures and corpus callosum hypoplasia. Conclusions The clinical feature of patients with PPP2R1A gene variations is mainly moderate to severe intellectual disability/developmental delay, most co-morbid with hypotonia, macrocephaly or microcephaly, corpus callosum hypoplasia, and abnormal facial shape. There is a certain correlation between genotype and phenotype.