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Comparative analysis of adolescent hypertension definitions for predicting early-adulthood carotid artery intima-media thickness: Tehran lipid and glucose study. 青少年高血压定义预测成年早期颈动脉内膜中层厚度的比较分析:德黑兰血脂和血糖研究。
IF 3.2 Q1 PEDIATRICS Pub Date : 2024-09-12 DOI: 10.3345/cep.2024.00248
Maryam Barzin, Shirin Yaghoobpoor, Maryam Mahdavi, Behnaz Abiri, Majid Valizadeh, Fereidoun Azizi, Pooneh Dehghan, Farhad Hosseinpanah

Background: Definitions of childhood and adolescent hypertension (HTN) do not precisely elucidate the relationship between HTN and cardiovascular outcomes. Carotid intima-media thickness (CIMT), as a substitute for cardiovascular outcomes, enables the early identification of cardiovascular events throughout early adulthood.

Purpose: This study aimed to compare the ability of childhood HTN definitions to predict a high CIMT in early adulthood.

Methods: This prospective cohort study included 921 individuals aged 10-17 years from the Tehran Lipid and Glucose Study (TLGS). The CIMT was measured after 18 years of follow-up. Participants were categorized into normal blood pressure (BP), high-normal BP, HTN stage 1, and HTN stage 2 groups based on the childhood HTN definitions of the 4th report, European Society of Hypertension (ESH), and American Academy of Pediatrics Clinical Practice Guidelines (AAP-CPG). Akaike's information criterion (AIC) and relative efficiencies (RE) were calculated to compare the ability of each to predict a high CIMT (≥95th percentile) during early adulthood.

Results: The highest and lowest prevalence of stage 1 HTN was observed with the AAP-CPG (17.7%) and ESH (8.8%), respectively. Similarly, the highest and lowest prevalence of stage 2 HTN was noted with the AAP-CPG (1.5%) and ESH (0.8%), respectively. According to the RE values, the highest to lowest predictive abilities belonged to the 4th report, ESH, and AAP-CPG, respectively. In all models, the 4th report's pediatric HTN definition had the lowest AIC value and offered the best predictive ability.

Conclusion: Among the various definitions of pediatric HTN, the 4th report offered the best ability to predict a high CIMT during early adulthood, followed by the ESH and AAP-CPG. Because the reference population of the 4th report includes overweight, obese, and normal-weight individuals, our findings suggest that excessive adiposity is among the main predictors of early adulthood atherosclerosis risk.

背景:儿童和青少年高血压(HTN)的定义并不能准确阐明HTN与心血管后果之间的关系。目的:本研究旨在比较儿童高血压定义预测成年早期高CIMT的能力:这项前瞻性队列研究纳入了德黑兰血脂和血糖研究(TLGS)中年龄在 10-17 岁的 921 人。随访 18 年后测量了 CIMT。根据第 4 次报告、欧洲高血压学会(ESH)和美国儿科学会临床实践指南(AAP-CPG)中的儿童高血压定义,将参与者分为血压(BP)正常组、血压(BP)正常组、高血压(HTN)1 期组和高血压(HTN)2 期组。通过计算阿凯克信息标准(AIC)和相对效率(RE)来比较每种方法预测成年早期高CIMT(≥95百分位数)的能力:结果:AAP-CPG(17.7%)和ESH(8.8%)分别预测出了最高和最低的1期高血压患病率。同样,AAP-CPG(1.5%)和 ESH(0.8%)分别是第二阶段高血压患病率最高和最低的国家。根据 RE 值,预测能力从高到低分别属于第 4 次报告、ESH 和 AAP-CPG。在所有模型中,第 4 次报告的儿科高血压定义的 AIC 值最低,预测能力最强:结论:在儿科高血压的各种定义中,第 4 次报告对成年早期高 CIMT 的预测能力最强,其次是 ESH 和 AAP-CPG。由于第 4 次报告的参考人群包括超重、肥胖和正常体重者,我们的研究结果表明,过度肥胖是成年早期动脉粥样硬化风险的主要预测因素之一。
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引用次数: 0
Double-negative T cells in pediatric rheumatic diseases. 小儿风湿病中的双阴性 T 细胞。
IF 3.2 Q1 PEDIATRICS Pub Date : 2024-09-12 DOI: 10.3345/cep.2023.01760
Dimitri Poddighe, Tilektes Maulenkul, Kuanysh Dossybayeva, Gulsamal Zhubanova, Zaure Mukusheva, Lyudmila Akhmaltdinova

Double-negative (CD4-CD8-) T (DNT) cells have been implicated in Autoimmune Lymphoproliferative Syndrome (ALPS), where their expansion inside the circulating pool of T cells represents a diagnostic criterion. Recent experimental evidence has supported the immunomodulatory roles of DNT cells, and studies in adult patients have suggested that they may be altered in some immune-mediated conditions. This study aimed to retrieve available data on circulating DNT cells in pediatric rheumatic disorders that do not arise in the context of ALPS through a systematic literature review of three scientific databases (PubMed, Scopus, and Web of Science). The final output of the systematic literature search consisted of eight manuscripts, including cross-sectional (n=6) and longitudinal (n=2) studies. Overall, the pooled population of patients includes children affected with pediatric Systemic Lupus Erythematosus (n=104), Juvenile Idiopathic Arthritis (n=92), Behçet's disease (n=15), mixed connective tissue disease (n=8), Juvenile Dermatomyositis (n=6), and Kawasaki disease/multisystem inflammatory disease in children (n=1 and n=14, respectively); moreover, one study also included 11 children with a high titer of antinuclear antibody but no diagnosis of rheumatic disease. All studies except one included a control group. The number of DNT cells were increased in most studies of children with rheumatic diseases. Even if such a limited number of studies and their great heterogeneity in several methodological aspects do not allow for reliable conclusions about the relevance of DNT cells in specific rheumatic conditions in children, this cell population deserves further investigation in this pathological setting through well-designed clinical studies.

双阴性(CD4-CD8-)T(DNT)细胞与自身免疫淋巴组织增生综合征(ALPS)有关,其在循环 T 细胞池中的扩增是一种诊断标准。最近的实验证据支持了 DNT 细胞的免疫调节作用,对成年患者的研究表明,在某些免疫介导的情况下,DNT 细胞可能会发生改变。本研究旨在通过对三个科学数据库(PubMed、Scopus 和 Web of Science)进行系统性文献综述,检索有关小儿风湿性疾病中循环 DNT 细胞的可用数据,而这些疾病并非在 ALPS 的背景下出现。系统性文献检索的最终结果包括 8 篇手稿,其中包括横断面研究(6 篇)和纵向研究(2 篇)。总体而言,汇总的患者群体包括患有小儿系统性红斑狼疮(104 人)、幼年特发性关节炎(92 人)、白塞氏病(15 人)、混合性结缔组织病(8 人)、幼年皮肌炎(6 人)和川崎病/儿童多系统炎症性疾病(分别为 1 人和 14 人)的儿童;此外,一项研究还包括 11 名抗核抗体滴度较高但未确诊为风湿病的儿童。除一项研究外,其他所有研究均包括对照组。在大多数关于风湿病患儿的研究中,DNT 细胞的数量都有所增加。尽管这些研究数量有限,而且在方法学方面存在很大的异质性,无法就 DNT 细胞与儿童特定风湿病的相关性得出可靠的结论,但在这种病理环境下,这一细胞群值得通过精心设计的临床研究进行进一步调查。
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引用次数: 0
Screen time among preschoolers: exploring individual, familial, and environmental factors. 学龄前儿童的屏幕时间:探讨个人、家庭和环境因素。
IF 3.2 Q1 PEDIATRICS Pub Date : 2024-09-12 DOI: 10.3345/cep.2023.01746
Sangha Lee, Donghee Kim, Yunmi Shin

Background: Screen-based activity refers to the use of screened devices, which are changing from stationary devices such as televisions and desktop computers to newer portable devices such as smartphones and electronic tablets. The exposure of younger children to all types of screened devices has increased.

Purpose: This review aimed to provide an overview of previous studies and identify the correlations associated with screen-based activities in preschoolers.

Methods: We conducted a systematic literature review of databases including PubMed, Embase, and PsycInfo targeting quantitative studies published between 2010 and 2019. We then analyzed the associations between screen time and various individual, familial, and environmental factors in healthy children aged 0-6 years. We specifically included studies that provided a subgroup analysis for this age category to systematically identify the factors influencing screen time patterns among preschoolers.

Results: The search yielded 36 articles that met the inclusion criteria. We investigated age, sex, and social, family, and personal factors as well as media parenting. The results suggested that media parenting for screen-based activities was an important protective factor.

Conclusion: Limited research has been conducted on preschoolers' screen-based activities with both stationary and portable screened devices. Most factors have been studied using stationary devices and are too infrequent for solid conclusions to be reached. Parental screen time and the setting of appropriate media limits were crucial protective factors against excessive media exposure. However, information about family and personal factors remain scarce, and further research is needed.

背景:屏幕活动是指使用屏幕设备,这些设备正从电视机和台式电脑等固定设备向智能手机和电子平板电脑等新型便携设备转变。目的:本综述旨在概述以往的研究,并确定学龄前儿童基于屏幕的活动的相关性:我们对包括 PubMed、Embase 和 PsycInfo 在内的数据库进行了系统性文献综述,以 2010 年至 2019 年间发表的定量研究为目标。然后,我们分析了屏幕时间与 0-6 岁健康儿童的各种个人、家庭和环境因素之间的关联。我们特别纳入了为这一年龄组提供亚组分析的研究,以系统地确定影响学龄前儿童屏幕时间模式的因素:搜索结果显示有 36 篇文章符合纳入标准。我们对年龄、性别、社会、家庭和个人因素以及媒体养育方式进行了调查。结果表明,媒体对屏幕活动的养育是一个重要的保护因素:关于学龄前儿童使用固定和便携式屏幕设备进行屏幕活动的研究十分有限。大多数因素都是通过固定设备进行研究的,而且频率太低,无法得出可靠的结论。父母使用屏幕的时间和设置适当的媒体限制是防止过度接触媒体的重要保护因素。然而,有关家庭和个人因素的信息仍然很少,需要进一步研究。
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引用次数: 0
Role of proper postnatal care in continued exclusive breastfeeding among young Indonesian mothers. 适当的产后护理对印尼年轻母亲继续纯母乳喂养的作用。
IF 3.2 Q1 PEDIATRICS Pub Date : 2024-09-12 DOI: 10.3345/cep.2024.00815
Wahyu Triadmajani, Shinta Prawitasari, Abdul Wahab

Background: Exclusive breastfeeding (EBF) provides numerous health benefits to children. However, the EBF rate is unsatisfactory among young mothers because they often experience difficulties. Thus, interventions during the postnatal period are imperative to encouraging EBF practices in these populations. Postnatal care (PNC) should be delivered appropriately to ensure a positive postnatal experience; however, there has been little discussion of evidence therein to date.

Purpose: This study investigated the association between proper PNC and EBF practices among young Indonesian mothers.

Methods: This cross-sectional study analyzed data from the 2017 Indonesia Demographic Health Survey. All mothers aged 15-24 years who delivered an infant within the 2 years preceding the survey were included. Mothers were considered to be receiving proper PNC if they started breastfeeding soon after delivery, attended a PNC appointment within 2 days after giving birth, and received breastfeeding counseling and observation during the PNC visit.

Results: Approximately 51.6% of infants under 6 months of age born to young mothers (those aged 15-24 years) were exclusively breastfed. Appropriate PNC was received by approximately 24.3% of the total population. The correlation between proper PNC and EBF practices was significant among adolescent mothers aged 15-19 years after an age stratification analysis (odds ratio, 8.22; 95% confidence interval, 1.957-34.524). Maternal age became a noticeable confounder after a risk stratification analysis.

Conclusion: Our findings imply the importance of breastfeeding service delivery during the early postnatal period in continuing EBF. Ensuring high PNC quality helps ensure positive postnatal experiences, particularly for adolescent mothers.

背景:纯母乳喂养(EBF)对儿童健康有诸多益处。然而,年轻母亲的纯母乳喂养率并不令人满意,因为她们经常遇到困难。因此,必须在产后采取干预措施,鼓励这些人群实行纯母乳喂养。产后护理(PNC)应适当进行,以确保积极的产后体验;然而,迄今为止,有关这方面证据的讨论却很少。目的:本研究调查了适当的 PNC 与印尼年轻母亲 EBF 实践之间的关联:这项横断面研究分析了 2017 年印尼人口健康调查的数据。所有在调查前两年内分娩过婴儿的 15-24 岁母亲均被纳入调查范围。如果母亲在产后不久就开始母乳喂养,并在产后两天内预约了初级保健服务,且在初级保健服务期间接受了母乳喂养咨询和观察,则被视为接受了适当的初级保健服务:在年轻母亲(15-24 岁)所生的 6 个月以下婴儿中,约 51.6%为纯母乳喂养。约 24.3% 的总人口接受了适当的初级保健服务。经过年龄分层分析,在 15-19 岁的青少年母亲中,适当的 PNC 和纯母乳喂养做法之间存在显著的相关性(几率比为 8.22;95% 置信区间为 1.957-34.524)。在进行风险分层分析后,母亲年龄成为一个明显的混淆因素:我们的研究结果表明,在产后早期提供母乳喂养服务对继续母乳喂养非常重要。确保高质量的初级保健服务有助于确保积极的产后体验,尤其是对青少年母亲而言。
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引用次数: 0
Interleukin (IL)-1B and IL-1 receptor antagonist gene polymorphisms in children with primary immune thrombocytopenia. 原发性免疫性血小板减少症患儿的白细胞介素(IL)-1B 和 IL-1 受体拮抗剂基因多态性。
IF 3.2 Q1 PEDIATRICS Pub Date : 2024-09-01 Epub Date: 2024-07-24 DOI: 10.3345/cep.2024.00577
Seham Mohamed Ragab, Wafaa Moustafa Abo ElFotoh, Mahmoud Ahmed El-Hawy, Eman Abdelfatah Badr, Saara Khairat Ali Mostafa, Mai El-Sayad Abd El-Hamid

Background: The pathophysiology and susceptibility of children to primary immune thrombocytopenia (ITP) are linked to polymorphisms of the interleukin (IL)-1B and IL-1 receptor (IL-1R) antagonist genes.

Purpose: To investigate the association between the susceptibility and severity of primary ITP in children and the IL-1B and IL-1R antagonist gene polymorphisms.

Methods: This comparative case-control study was conducted at the Menoufia University Hospital Hematology and Oncology Unit, Pediatric Department, between August 2022 and September 2023. The children were divided into patients (28 boys, 22 girls) who received hospital and outpatient clinic care and controls (50 healthy age- and sex-matched children).

Results: The mutant homozygous GG genotype and mutant G allele of rs16944 of the IL1B gene were considerably greater in patients than in controls (P<0.001). Furthermore, the mutant homozygous II/II genotype and heterozygous I/II genotype of the IL-1R antagonist gene were considerably greater in the case versus control group. The mutant II allele was significantly more prevalent in patients versus controls (P<0.001).

Conclusion: IL-1B and IL-1R antagonists may have a major impact on the development of immune thrombocytopenia. Furthermore, we found a relationship between IL-1B and IL-1R antagonist gene polymorphisms and the etiology of and children's susceptibility to primary immune thrombocytopenia.

背景:目的:研究儿童原发性ITP的易感性和严重程度与IL-1B和IL-1R拮抗剂基因多态性之间的关系:这项病例对照比较研究于 2022 年 8 月至 2023 年 9 月在梅努菲亚大学医院儿科血液学和肿瘤学组进行。患儿分为接受住院和门诊治疗的患者(28 名男孩,22 名女孩)和对照组(50 名年龄和性别匹配的健康儿童):结果:IL1B 基因 rs16944 的突变同源 GG 基因型和突变 G 等位基因在患者中的比例明显高于对照组(PConclusion:IL-1B 和 IL-1R 拮抗剂可能对免疫性血栓性全血细胞减少症的发病有重大影响。此外,我们还发现了 IL-1B 和 IL-1R 拮抗剂基因多态性与儿童血栓性白血病病因之间的关系。
{"title":"Interleukin (IL)-1B and IL-1 receptor antagonist gene polymorphisms in children with primary immune thrombocytopenia.","authors":"Seham Mohamed Ragab, Wafaa Moustafa Abo ElFotoh, Mahmoud Ahmed El-Hawy, Eman Abdelfatah Badr, Saara Khairat Ali Mostafa, Mai El-Sayad Abd El-Hamid","doi":"10.3345/cep.2024.00577","DOIUrl":"10.3345/cep.2024.00577","url":null,"abstract":"<p><strong>Background: </strong>The pathophysiology and susceptibility of children to primary immune thrombocytopenia (ITP) are linked to polymorphisms of the interleukin (IL)-1B and IL-1 receptor (IL-1R) antagonist genes.</p><p><strong>Purpose: </strong>To investigate the association between the susceptibility and severity of primary ITP in children and the IL-1B and IL-1R antagonist gene polymorphisms.</p><p><strong>Methods: </strong>This comparative case-control study was conducted at the Menoufia University Hospital Hematology and Oncology Unit, Pediatric Department, between August 2022 and September 2023. The children were divided into patients (28 boys, 22 girls) who received hospital and outpatient clinic care and controls (50 healthy age- and sex-matched children).</p><p><strong>Results: </strong>The mutant homozygous GG genotype and mutant G allele of rs16944 of the IL1B gene were considerably greater in patients than in controls (P<0.001). Furthermore, the mutant homozygous II/II genotype and heterozygous I/II genotype of the IL-1R antagonist gene were considerably greater in the case versus control group. The mutant II allele was significantly more prevalent in patients versus controls (P<0.001).</p><p><strong>Conclusion: </strong>IL-1B and IL-1R antagonists may have a major impact on the development of immune thrombocytopenia. Furthermore, we found a relationship between IL-1B and IL-1R antagonist gene polymorphisms and the etiology of and children's susceptibility to primary immune thrombocytopenia.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"465-473"},"PeriodicalIF":3.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11374454/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141761443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evidence-based management guidelines for noncystic fibrosis bronchiectasis in children and adolescents. 儿童和青少年非囊性纤维化支气管扩张症循证管理指南。
IF 3.2 Q1 PEDIATRICS Pub Date : 2024-09-01 Epub Date: 2024-01-23 DOI: 10.3345/cep.2023.00871
Eun Lee, Kyunghoon Kim, You Hoon Jeon, In Suk Sol, Jong Deok Kim, Taek Ki Min, Yoon Ha Hwang, Hyun-Ju Cho, Dong In Suh, Hwan Soo Kim, Yoon Hee Kim, Sung-Il Woo, Yong Ju Lee, Sungsu Jung, Hyeon-Jong Yang, Gwang Cheon Jang

Noncystic fibrosis bronchiectasis is a chronic respiratory disease that carries high socioeconomic and medical burdens and is caused by diverse respiratory illnesses. To improve clinical outcomes, early recognition, active treatment of exacerbations, and prevention of further exacerbations are essential. However, evidence for the treatment and prevention of acute exacerbation of noncystic fibrosis bronchiectasis, especially in children, is lacking. Therefore, the evidence- and consensus-based guidelines for medical and nonmedical treatment strategies for noncystic fibrosis bronchiectasis in children and adolescents were developed by the Korean Academy of Pediatric Allergy and Respiratory Disease using the methods recommended by the Grading of Recommendations Assessment, Development, and Evaluation working group with evidence published through July 2, 2020. This guideline encompasses evidence-based treatment recommendations as well as expert opinions, addressing crucial aspects of the treatment and management of non-cystic fibrosis bronchiectasis in children. This includes considerations for antibiotics and airway clearance strategies, particularly in areas where evidence may be limited. Large, well-designed, and controlled studies are required to accumulate further evidence of management strategies for noncystic fibrosis bronchiectasis in children and adolescents.

非囊性纤维化支气管扩张症是一种由多种呼吸道疾病引起的慢性呼吸道疾病,给社会经济和医疗带来沉重负担。为了改善临床疗效,早期识别、积极治疗病情加重和预防进一步加重至关重要。然而,目前尚缺乏治疗和预防非囊性纤维化支气管扩张症急性加重的证据,尤其是在儿童中。因此,韩国儿科过敏与呼吸疾病学会采用建议分级评估、开发和评价工作组推荐的方法,根据截至 2020 年 7 月 2 日发表的证据,制定了基于证据和共识的儿童和青少年非囊性纤维化支气管扩张症药物和非药物治疗策略指南。本指南包括循证治疗建议和专家意见,涉及儿童非囊性纤维化支气管扩张症治疗和管理的关键方面。其中包括对抗生素和气道清除策略的考虑,尤其是在证据可能有限的领域。为进一步积累儿童和青少年非囊性纤维化支气管扩张症治疗策略的证据,需要进行大规模、设计良好的对照研究。
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引用次数: 0
Impact of COVID-19 pandemic on clinical features of benign convulsions with mild gastroenteritis. COVID-19 大流行对伴有轻微肠胃炎的良性惊厥临床特征的影响。
IF 3.2 Q1 PEDIATRICS Pub Date : 2024-09-01 Epub Date: 2024-03-25 DOI: 10.3345/cep.2024.00108
Jon Soo Kim
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引用次数: 0
Comparison and review of international guidelines for treating asthma in children. 国际儿童哮喘治疗指南的比较与回顾。
IF 3.2 Q1 PEDIATRICS Pub Date : 2024-09-01 Epub Date: 2024-08-20 DOI: 10.3345/cep.2022.01466
Eui Jeong Roh

Asthma, the most common chronic disease, is characterized by airway inflammation and airflow obstruction. The World Health Organization estimates that approximately 300 million people worldwide have asthma, 30% of whom are pediatric patients. Asthma is a major cause of morbidity that can lead to hospitalization or death in severe pediatric cases. Therefore, it is necessary to provide children with objective and reliable treatment according to consistent guidelines. Several institutes, such as the Global Institute for Asthma, National Heart, Lung, and Blood Institute, British Thoracic Society, Japanese Society of Pediatric Allergy and Clinical Immunology, and Korean Academy of Asthma, Allergy, and Clinical Immunology have published and revised asthma guidelines. However, since recommendations differ among them, confusion persists regarding drug therapy for pediatric asthma patients. Additionally, some guidelines have changed significantly in recent years. This review investigated the latest changes in each guideline, compared and analyzed the recommendations, and identified the international trends in pediatric asthma drug therapy. The findings of this review may aid determinations of the future direction of the Korean guidelines for childhood asthma.

哮喘是最常见的慢性疾病,以气道炎症和气流阻塞为特征。据世界卫生组织估计,全球约有 3 亿人患有哮喘,其中 30% 为儿童患者。哮喘是发病的一个主要原因,严重的儿科病例可导致住院或死亡。因此,有必要根据一致的指导方针为儿童提供客观可靠的治疗。全球哮喘研究所、美国国家心肺血液研究所、英国胸科学会、日本儿科过敏与临床免疫学会、韩国哮喘、过敏与临床免疫学会等多个机构已发布并修订了哮喘指南。然而,由于这些指南的建议不尽相同,因此在儿童哮喘患者的药物治疗方面仍然存在混乱。此外,一些指南近年来也发生了重大变化。本综述对各指南的最新变化进行了调查,对建议进行了比较和分析,并确定了儿科哮喘药物治疗的国际趋势。本综述的结果可能有助于确定韩国儿童哮喘指南的未来方向。
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引用次数: 0
Comprehensive evaluation of the child with global developmental delays or intellectual disability. 对有全面发育迟缓或智力障碍的儿童进行全面评估。
IF 3.2 Q1 PEDIATRICS Pub Date : 2024-09-01 Epub Date: 2024-05-29 DOI: 10.3345/cep.2023.01697
Abdullah Nasser Aldosari, T Saeed Aldosari

Global developmental delay (GDD) and intellectual disability (ID) are relatively common neurodevelopmental disorders that significantly impact affected children, their families, and society. The etiology of GDD/ID is notably diverse, encompassing both genetic and acquired factors. Although the precise cause of most GDD/ID cases remains unclear, an estimated half of all cases can be attributed to genetic factors. Thus, a detailed medical history and comprehensive physical examination remain pivotal for guiding diagnostic investigations into the underlying causes of GDD/ID. Advancements in genetic testing have supplanted traditional methods such as karyotyping and fluorescence in situ hybridization with chromosomal micro arrays, which are now the primary genetic tests for children with idiopathic GDD/ID. Moreover, the evaluation of Fragile X and Rett syndrome should be an integral component of initial diagnostic assessments. In recent years, whole-exome sequencing and whole-genome sequ-encing have emerged as important diagnostic tools for evaluating children with GDD/ID and have substantially enhanced the diagnostic yield rates. Gene therapy has emerged as a promising avenue and is poised to become a cornerstone in addressing various genetic developmental and epilepsy disorders. Early intervention facilitated by a proficient multidisciplinary team can markedly enhance the prognosis and outcomes of GDD/ID, particularly when parents or caregivers are actively engaged in the interventional process. This review discusses risk factors and common underlying causes, explores recent evidence and recommendations for genetic evaluation, and offers management strategies for children with GDD/ID.

全面发育迟缓(GDD)和智力障碍(ID)是相对常见的神经发育疾病,对患儿、其家庭和社会都有重大影响。GDD/ID 的病因多种多样,既有遗传因素,也有后天因素。虽然大多数 GDD/ID 病例的确切病因仍不清楚,但估计有一半的病例可归因于遗传因素。因此,详细的病史和全面的体格检查仍是指导诊断调查 GDD/ID 潜在病因的关键。基因检测技术的进步取代了染色体微阵列核型分析和荧光原位杂交等传统方法,目前已成为特发性 GDD/ID 儿童的主要基因检测方法。此外,对脆性 X 和雷特综合征的评估也应成为初步诊断评估的组成部分。近年来,全外显子组测序和全基因组测序已成为评估 GDD/ID 儿童的重要诊断工具,并大大提高了诊断率。基因治疗已成为一种前景广阔的途径,并有望成为解决各种遗传发育和癫痫疾病的基石。由一支精通多学科的团队进行早期干预,可显著改善 GDD/ID 的预后和治疗效果,尤其是当父母或看护人积极参与干预过程时。本综述讨论了风险因素和常见的潜在病因,探讨了遗传评估的最新证据和建议,并为 GDD/ID 儿童提供了管理策略。
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引用次数: 0
Pediatric abdominal ultrasound training program for pediatricians. 面向儿科医生的小儿腹部超声波培训计划。
IF 3.2 Q1 PEDIATRICS Pub Date : 2024-09-01 Epub Date: 2024-08-20 DOI: 10.3345/cep.2024.00451
Soon Chul Kim
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引用次数: 0
期刊
Clinical and Experimental Pediatrics
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