Developmental delays

发育迟缓
  • 文章类型: Journal Article
    早期认识到幼儿的发育困难可以加强预防和治疗方法。尽管它们是可行的,与高收入国家相比,中低收入(LAMI)国家的早期干预服务有限.这项研究的目的是通过系统评价和荟萃分析,研究LAMI国家五岁以下儿童发育困难的早期儿童干预计划的证据。在这样的背景下,2010年至2019年在同行评审期刊上发表的原始研究,重点是发展困难,包括延误和偏差;随机研究设计,明确描述干预和可衡量的结果,并在LAMI国家进行了系统评价。电子数据库,包括ProQuest,PubMed,奥维德,EBSCOhost,和谷歌学者,使用特定关键字的组合进行搜索。遵循PRISMA指南以包括这些研究。在应用适当的统计数据综合数据之前,对每项选定的研究进行质量评估。从2697份出版物中确定了14份出版物用于系统审查,其中四个被发现与荟萃分析兼容。审查的研究是在孟加拉国进行的,印度,巴基斯坦,乌干达,越南,赞比亚。对四项研究的荟萃分析为早期发育干预的效果提供了大量证据。本系统综述为LAMI国家的早期儿童干预计划提供了证据。本文讨论了这些发现对幼儿计划的影响。
    Early acknowledgment of developmental difficulties in young children strengthens both preventive and therapeutic approaches. Despite their feasibility, early intervention services are limited in Low-and-Middle-Income (LAMI) countries compared to high income countries. The aim of this study was to examine the evidence for early childhood intervention programs for developmental difficulties in children below five years in LAMI countries through a systematic review and meta-analysis. In this background, original studies published in peer-reviewed journals from 2010 to 2019 with a focus on developmental difficulties including delays and deviances; randomized research design with a clear description of the intervention and measurable outcomes, and conducted in LAMI countries were considered for the systematic review. Electronic databases, including ProQuest, PubMed, Ovid, EBSCOhost, and Google Scholar, were searched using a combination of specific keywords. PRISMA guidelines were followed to include the studies. Each of the selected study was assessed for quality before applying appropriate statistics to synthesize the data. Fourteen publications were identified from 2697 publications for the systematic review, out of which four were found compatible for a meta-analysis. The studies reviewed were conducted in Bangladesh, India, Pakistan, Uganda, Vietnam, and Zambia. A meta-analysis of four studies provided considerable evidence for the effects of early developmental intervention. This systematic review provides an evidence for early childhood intervention programs in LAMI countries. Implications of these findings for the early childhood programs are discussed in this article.
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  • 文章类型: Case Reports
    据报道,20p13微缺失综合征与发育迟缓有关,智力残疾,癫痫,和非特异性的变形特征。然而,仅描述了少数20p13微缺失病例,因此,其典型特征和确切的发病机制仍然难以捉摸。
    在本文中,我们报告了一个9个月大的婴儿,他有一个大的fontanelle,面部畸形,未能茁壮成长。阵列比较基因组杂交(aCGH)分析证实了20p13染色体带中的2.01-Mb微缺失,涉及SOX12和NRSN2,这两个都被认为是20p13微缺失患者的最重要致病基因。为了阐明20p13微缺失的典型特征,我们进一步回顾了这些以前报道的病例,发现运动延迟(90%)是最常见的表现,其次是语言延迟(60%),异常数字(60%),智力低下(50%),大fontanelle(50%),脑电图异常(50%),和癫痫(40%)。
    本报告强调了aCGH作为一种实用而强大的工具的潜力,可用于检测具有广泛表型的个体的亚显微染色体异常。从面部畸形到未能茁壮成长。此外,文献综述为20p13微缺失的临床特征提供了新的思路。
    20p13 microdeletion syndrome has been reported to be associated with developmental delays, intellectual disability, epilepsy, and unspecific dysmorphic characteristics. However, only a few cases of 20p13 microdeletion have been described, and therefore its typical features and precise pathogenesis remain elusive.
    In this article, we report the case of a 9-month-old infant who presented with a large fontanelle, facial dysmorphism, and failure to thrive. Array-comparative genomic hybridization (aCGH) analysis confirmed a 2.01-Mb microdeletion in chromosome band 20p13 that involved SOX12 and NRSN2, both of which are considered paramount causative genes in patients with 20p13 microdeletion. To elucidate the typical features of 20p13 microdeletion, we further reviewed these previously reported cases and found that motor delay (90%) was the most common manifestation, followed by language delay (60%), abnormal digits (60%), mental retardation (50%), large fontanelle (50%), electroencephalography abnormalities (50%), and seizure (40%).
    This report highlights the potential of aCGH as a practical and powerful tool with which to detect submicroscopic chromosomal abnormalities in individuals presenting with a wide spectrum of phenotypes, ranging from facial dysmorphism to failure to thrive. Additionally, the literature review casts new light on the clinical features of 20p13 microdeletion.
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  • 文章类型: Journal Article
    Children born to HIV-infected mothers have worse developmental outcomes compared to HIV-unexposed children. However, little is known about interventions to improve developmental outcomes in this population. This study systematically reviews the literature on interventions to improve development in children born to HIV-infected mothers. We systematically searched the following electronic bibliographic databases: Ovid MEDLINE, Embase, PsycINFO, Education Resources Information Center, and the Cochrane Database of Systematic Reviews. Studies were selected on the basis of defined inclusion criteria and excluded if antiretroviral medication was the only intervention. Titles, abstracts, and full texts were assessed by 2 independent reviewers. Data were collected on characteristics of the study design, intervention, and developmental outcomes measured. Risk of bias and strength of evidence were assessed on all included articles. Our search resulted in 11,218 records. After our initial review, 43 records were appraised in their entirety and 9 studies met all inclusion criteria. Six were performed in sub-Saharan Africa, while the remaining 3 were performed in the United States. Eight were randomized-controlled trials and one was a retrospective chart review. Four studies focused on caregiver-training, 2 studied massage therapy, and the remaining studies focused on maternal vitamin supplementation, video-based cognitive therapy, or center-based interventions. Massage therapy had the most consistent improvements in the domains measured, while caregiver training and cognitive therapy interventions had limited benefits. The center-based intervention showed no benefit. Only 3 studies had a low risk of bias, and 4 studies had good strength of evidence. Most studies found some benefit. However, these findings are limited by the quality of the study designs, small sample size, and heterogeneity of the interventions and assessments used to measure outcomes. There is a critical need for the creation of evidence-based interventions to promote development in this vulnerable population.
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