目的 通过年龄、性别等多方面研究各亚型注意缺陷多动障碍（ADHD）儿童的智力结构分布特征的临床研究，为ADHD的个体化干预提供科学依据。方法 实验组纳入ADHD儿童754例，其中注意缺陷型（ADHD-I）280例（37.13%）、多动-冲动型（ADHD-HI）212例（28.12%）、混合型（ADHD-C）262例（34.75%），按年龄分为三组：低龄组（6~8岁）、中龄组（9~11岁）及高龄组（12~14岁）；对照组为正常儿童412例，为同期选择的性别、年龄相匹配的儿童。选择采用韦氏智力评估等方法分别对两组儿童进行评估等，对评估结果进行比较和综合分析。结果 ADHD儿童的智力评估结果低于对照组（P＜0.01），且在言语智商方面表现更为明显，在各分测验中以A因子（言语理解）和C因子（记忆/注意集中）为主，而B因子（知觉组织能力）方面则无差异。ADHD-HI型及ADHD-C型的总智商及操作智商均高于ADHD-I型，ADHD-C型言语智商和A因子均高于ADHD-I型（P＜0.01），ADHD-HI型的智力水平最高，而ADHD-I型与ADHD-C型的智力水平差异无统计学意义（P＞0.05）。各年龄段ADHD儿童的智力发育均受到不同程度的影响，尤其是中龄组儿童及高龄组女童所受影响更明显；低、中龄组儿童的智力发育水平均高于高龄组儿童，提示ADHD儿童的智力损害随年龄增长而加重；同一年龄段ADHD女童的智力损害较男童更为严重。结论 本地区6~14岁ADHD儿童的智力水平较低，以言语智商低下更为明显，ADHD-HI型在3个亚型中智力损害最小，ADHD儿童的智力损害随年龄增长而加重，同一年龄段ADHD女童的智力损害较男童更为严重。

   Objective To investigate the distribution characteristics of intellectual structure in children with different subtypes of attention deficit hyperactivity disorder（ADHD）by age and gender，providing scientific basis for individualized treatment and intervention of ADHD．Methods The experimental group consisted of 754 children with ADHD，including 280 cases（37.13%）of inattentive type（ADHD-I），212 cases（28.12%）of hyperactivity impulsive type（ADHD-HI），and 262 cases（34.75%）of combined type（ADHD-C）．They were divided into three groups by age：young group（6-8 years old），middle group（9-11 years old），and older group（12-14 years old）．The control group consisted of 412 normal children with matched sex and age recruited during the same period and had similar sex ratio．The specific methods of Wechsler Intelligence Scale were mainly applied to evaluate normal children and children with ADHD，and the evaluation results were subjected to multidimensional analysis and comparison．Results The intelligence assessment results of ADHD children were significantly lower than those of the control group（P＜0.01），with a more pronounced performance in verbal intelligence．In various sub tests，factors A（verbal comprehension）and C（memory and attention concentration）were the main factors，while there was no difference in factor B（perceptual organization ability）．The ADHD-HI and ADHD-C types had higher total intelligence and operational intelligence than the ADHD-I type，and the ADHD-C type had higher verbal intelligence and factor A than the ADHD-I type（P＜0.01）．The intelligence level of the ADHD-HI type is the highest，while there is no statistically significant difference in intelligence level between the ADHD-I type and the ADHD-C type．The intellectual development of children in different age groups was affected to varying degrees，especially in the middle and older groups of girls．This study found that the intellectual development of children in the young and middle group was higher than that of children in the older group，indicating that the intellectual development of ADHD children will be increasingly damaged with age．At the same time，it was also found that ADHD girls in the same age group had more severe intellectual development impairment than boys．Conclusions The intelligence level of children with ADHD aged 6-14 in this region is relatively low，with verbal intelligence quotient being more pronounced．ADHD-HI has the smallest intellectual impairment among the three subtypes，and the intellectual development of ADHD children becomes more severe with age．ADHD girls in the same age group have more severe intellectual development impairment than boys．

目的 探讨婴儿胆汁淤积症为表现的钠牛磺胆酸共转运多肽（NTCP）缺陷病临床特点，提高临床医生对疾病的认识。方法：回顾总结分析12例因婴儿胆汁淤积症于2018年1月-2024年12月广州医科大学附属妇女儿童医疗中心就诊并经基因检测确诊为NTCP基因缺陷病患儿的临床特征、肝功能特点、基因结果及预后转归。结果：12例患儿基因组测序结果均存在SLC10A1基因纯合突变：c.800C>T(p.Ser267Phe)，就诊中位年龄2.1月，临床表现为黄疸伴大便颜色浅；肝功能表现为顽固的高胆汁酸血症及以直接胆红素升高为主的高胆红素血症,ALT、AST水平升高者10例，伴肝肿大者5例，脾肿大者4例，经治疗后黄疸消退中位时间5个月，3例患儿行胆道冲洗及肝活检，所有患儿生长发育均无异常。 结论 NTCP 缺陷病在婴儿期可表现为胆汁淤积症，肝功能异常除高胆汁酸血症外，以直接胆红素升高为主的高胆红素血症为典型表现；本病预后良好，早期行基因检测可避免有创或过度检查

To explore the clinical features of sodium taurocholate cotransporting polypeptide (NTCP) defective disease manifested by infantile cholestasis and to improve clinicians' understanding of the disease.Methods A retrospective summary and analysis were conducted of the clinical features, liver function features, genetic findings, and prognosis of 12 children who were diagnosed with NTCP gene deficiency disease by genetic testing at The Women's and Children's Medical Center Affiliated to Guangzhou Medical University between January 2018 and December 2024 as a result of infantile cholestasis. Results 12 children were diagnosed with NTCP gene defects at a median age of 2.1 months, and all of them had a pure mutation in the SLC10A1 gene (c.800C>T(p.Ser267Phe)) by genome sequencing. Intractable hyperbilirubinemia and hyperbilirubinemia with primarily elevated direct bilirubin, elevated ALT and AST levels in 10 cases, hepatomegaly in 5 cases, splenomegaly in 5 cases, and elevated bile levels in the liver were among th

目的 通过监测供精人工授精技术(artificial insemination by donor,AID)助孕后妊娠患者,了解其子代出生缺陷和遗传代谢病情况,为建立规范的监测子代出生缺陷的机制提供理论依据。方法 随访供精人工授精技术助孕后妊娠分娩的患者,收集其子代临床资料,部分新生儿采集足跟血制成滤纸干血斑标本,进行串联质谱分析,筛查遗传代谢病,可疑对象进行重复检测和专科咨询检查。结果 收集分析2007年—2016年通过AID出生的4 261例子代临床资料,360例新生儿采集足跟血进行 50种遗传代谢病检测。子代出生缺陷率1.24%(不包括230例轻度地方病地中海贫血症、24例G6PD缺乏症和两病共患5例),360例中未发现重度地中海贫血症、先天性甲状腺低下症、苯丙酮尿症等其他遗传代谢病。本中心建立宣传教育新生儿遗传代谢病筛查和转诊制度。结论 供精人工授精技术助孕后妊娠出生的子代出生缺陷和遗传代谢病发病率低,冻存精子进行供精人工授精助孕,是一种较安全获得健康子代的辅助生殖技术。

目的 研究并探讨产前优生筛查对出生缺陷的干预作用。方法 于2013年1月—2015年12月,选取69 183例孕产妇的临床资料进行回顾性研究,胎儿总数为69 262例,所有孕产妇在妊娠期均进行产前优生筛查,对产前筛查结果进行分析,统计胎儿异常例数,采取相应的产前干预措施,并对未检出胎儿异常的孕产妇进行跟踪随访,观察其妊娠结局,统计出生缺陷儿娩出例数及产前筛查漏检率。结果 69 262例胎儿中,共有7 470例胎儿检出异常,其胎儿异常率为10.79%,其中2013年检出1 910例,2014年检出2 569例,2015年检出2 991例,其检出率分别为9.15%、10.70%、12.17%,最终经产前诊断检查确定为出生缺陷的胎儿共98例,均采用引产术以终止妊娠。对未检出异常的61 792例胎儿进行跟踪随访后发现,其中17例胎儿在孕期流产,有9例出生缺陷儿娩出,其出生缺陷发生率为0.1 457‰,其产前筛查漏检率为0.1 456‰。结论 在产前对孕产妇进行产前优生筛查,并根据产前筛查结果进行相应的干预,可有效检出异常胎儿,及时终止异常妊娠,有利于减少缺陷儿的出生,促进优生优育。

Objective To study and discuss intervention effects of prenatal eugenic screening in birth defects. Methods From January 2013 to December 2015, we did retrospective study on the clinical data of 69 183 cases of pregnant in which there were 69 262 fetal cases, made prenatal eugenic screening for all pregnant women. Prenatal screening results were analyzed, fetal abnormal cases were calculated. We took appropriate prenatal intervention measures, and followed up pregnant women who had no detection of fetal abnormal. We observed the pregnancy outcome, and calculated the defected childbirth cases and prenatal screening miss rates. Results 69 262 cases of fetus, a total of 7 470 cases of fetal abnormalities were detected. The fetal abnormality rate was 10.79%, of which 1 910 cases were in 2013, 2 569 cases in 2014, 2 991 cases in 2015. The detection rates respectively were 9.15%, 10.70%, 12.17%. 98 cases were determined as fetal birth defects by the final prenatal diagnosis examination, in which all adopted induction of labor to terminate pregnancy. 61 792 cases who were not detected anomalies were followed up in which 17 cases of fetus were found and had abortion during pregnancy, and 9 cases of fetal birth defects were delivered . The incidence of birth defects was 0.1 457 ‰, the prenatal screening miss rate was 0.1 456 ‰. Conclusion Pregnant women were made prenatal eugenic screening and according to the result of prenatal screening we took corresponding intervention, which is effective detect abnormal fetus. We may have timely termination of abnormal pregnancy,and reduce birth defects. It may promote human eugenics.

目的 对出生缺陷知信行健康教育模式效果进行策略分析与探讨,为进一步完善围产期保健服务及健康教育工作提供合理化建议。方法 采用《孕期妇女出生缺陷基本知识知晓率专题测评问卷》并结合实际情况设定有关信念、行为方面的7个问题,对2011年1月—2013年6月期间在中心孕妇学校参加健康教育活动课堂的孕妇进行调查,并应用决策树模型对中心现有的出生缺陷知信行健康教育模式效果进行探讨。结果 预防出生缺陷知识方面,对初高中及中专文化程度的孕期妇女加强出生缺陷预防知识健康教育的预期收益合计达到51.2%,可作为重点目标人群;预防出生缺陷信念方面,主要决定因素是户籍类型和年龄,加大对本地户籍及25岁以上流动妇女人群的健康教育,促进孕期妇女树立预防出生缺陷信念的预期收益累计达95.9%;预防出生缺陷行为方面,主要影响因素是产检医生的嘱咐,受到嘱咐的孕期妇女预期收益为62.3%。结论 为了达到出生缺陷防治目标与健康教育整体效果的提高,应将预防出生缺陷的健康教育工作重点放在初高中及中专文化程度人群,本地户籍孕期妇女和25岁以上流动性孕期妇女又是需要树立预防出生缺陷信念的重点人群,强化产检医生的嘱托义务是提高孕期妇女出生缺陷知信行健康教育模式效果的有力保证。

Objective To identify factors related to the knowledge, attitude and practice KAP of birth defects prevention among pregnant women, and provide reasonable suggestions to improve perinatal health services and health education. Methods Using cluster sampling method, 5500 participants from pregnant women school were enrolled. Information on “awareness of basic knowledge of birth defects” and 7 questions about attitudes and practice to participant actual situation was gathered through personal interviews using a structured questionnaire. The related factors were analyzed by classification tree model of SPSS 19.0. Results As to birth defects related knowledge, prospective return was more than 50% in the pregnant women with junior, senior high school and technical secondary school education level. As to birth defects prevention faith, the main determinant was census register types; prospective return of pregnant women who were local permanent residents and floating population aged ≥25 years was 95.9%. The main influencing factor of practice was prenatal doctor's education; prospected return was 62.3% after strengthening the health education of prenatal doctor. Conclusion In order to improve birth defects education effect, pregnant women who have junior, senior high school and technical secondary school education level and are local permanent residents or floating population aged ≥25 years should be key targeted population. Prenatal doctor's health education will be a powerful guarantee.

目的 利用可视化软件CiteSpace分析近20年儿童注意缺陷多动障碍（ADHD）及其共患病的相关文献,得出该领域的研究现状和发展趋势,为儿童注意缺陷多动障碍及其共患病的研究和诊疗提供参考。方法 检索2004—2024年发表在中国知网、维普、万方数据库关于儿童注意缺陷多动障碍及其共患病的相关文献,运用CiteSpace软件对纳入文献进行可视化分析,对来源、机构、发文量、作者、关键词绘制科学知识图谱。结果 共纳入383个机构、500个作者、235种期刊、577篇有效文献。自2012年发文量总体上呈波动上升趋势;在发文来源中,《中国儿童保健杂志》以47篇居首;研究机构以北京大学精神卫生研究所为代表;王玉凤作者发文21篇为最多;ADHD患儿的主要共患病为抽动障碍、癫痫、对立违抗障碍、学习障碍;主要治疗药物为托莫西汀;主要影响患儿的执行功能。ADHD患儿共患病研究分为3个阶段,第一阶段为2004—2009年,研究对象主要为品行障碍、对立违抗障碍、学习障碍、焦虑障碍,主要研究内容为患儿的脑损伤与基因;第二阶段为2009—2017年,重视研究患儿的心理问题,如焦虑、抑郁,也重视患儿的生活及家庭环境;第三阶段为2017—2024年,重点研究托莫西汀、阿立哌唑等药物,并重视ADHD共患癫痫的研究。结论 目前对ADHD共患病的研究仍较为局限,主要集中研究共患抽动障碍、对立违抗障碍、癫痫,未来应重视研究其他共患病,进一步探索更好的诊治方法。

Objective To analyze the literature on attention deficit hyperactivity disorder（ADHD）and its comorbidities in children in the past 20 years by using the visualization software CiteSpace, and to obtain the research status and development trend of this field, so as to provide reference for the research, diagnosis and treatment of ADHD and its comorbidities in children. Methods The relevant literature on ADHD and its comorbidities in children published in CNKI, VIP and Wanfang data bases from 2004 to 2024 was searched, and the included literature was visually analyzed by CiteSpace 6. 2R6 software, and the scientific knowledge graph was drawn by the source, institution, number of publications, authors and keywords. Results A total of 383 institutions, 500 authors, 235 journals, and 577 valid articles were included. Since 2012, the number of published documents has fluctuated and increased. Among the sources of publication, the Chinese Journal of Child Health ranked first with 47 articles. The research institutions were represented by the Institute of Mental Health of Peking University. Wang Yufeng was the most prolific author with 21 articles. The main comorbidities of ADHD children were tic disorder, epilepsy, oppositional defiant disorder and learning disorder. The main treatment drug was tomoxetine. It mainly affects the executive function of the children. The study on comorbidity in children with ADHD was divided into three stages. The first stage was from 2004 to 2009. The research objects mainly included conduct disorder, oppositional defiant disorder, learning disorder and anxiety disorder, and the main research content was brain injury and genes in children. The second stage, from 2009 to 2017, focused on the psychological problems of children, such as anxiety and depression, and also paid attention to the life and family environment of children. The third stage was 2017-2024, focusing on tomoxetine, aripiprazole and other drugs, and paying attention to the study of ADHD co-induced epilepsy. Conclusions The current research on ADHD and its comorbidities is still limited, and its pathogenesis should be explored in the future, so as to quickly and accurately identify comorbidities and further study better treatments.