neurodevelopmental delays

  • 文章类型: Journal Article
    对早产儿视觉认知发育的测试表明,围产期特征与认知之间存在很强的相互作用,学习和整体神经发育进化。通过眼睛跟踪评估对象-位置绑定的预期凝视数据可以预测3岁早产儿的神经发育;鲜为人知,然而,关于生命第一年的早期认知功能及其评估方法。
    当前的研究提供了来自新型评估工具的数据,通过眼动追踪的延迟匹配检索(DMR)范例用于测量视觉工作记忆(VWM)和注意力技能。眼动追踪任务旨在测量婴儿主动定位对象并在线预测对象位置绑定的能力。63名婴儿参加了这项研究,39名早产儿和24名健康足月婴儿-早产儿的矫正年龄为8-9个月,足月婴儿的实际年龄相似。还给婴儿施用了Bayley婴儿和幼儿发育量表。
    对Bayley评分的分析显示两组之间没有显着差异,而眼动追踪数据显示对所有测量值均具有显着的组效应。此外,早产儿的VWM表现明显低于足月。出生体重影响所有感兴趣区域(AOI)的注视时间,VWM的总体表现和认知Bayley分量表的得分。此外,胎儿生长受限(FGR)的早产儿在眼动追踪测量中表现出显著的性能效应,但对他们的Bayley评分没有影响,这证明了眼睛注视数据的高判别值.
    通过眼动追踪测量的视觉工作记忆和注意力是非侵入性的,无痛,短期程序(大约。4分钟)被发现是识别早产和FGR对生命第一年认知发展影响的重要工具。仅BayleyScales可能无法弥补这些不足。确定用于早期神经发育评估和认知功能的工具对于早期支持和干预早产儿的脆弱群体非常重要。考虑到基本的执行功能技能与后来的认知和学术能力之间的关联。
    UNASSIGNED: The testing of visuocognitive development in preterm infants shows strong interactions between perinatal characteristics and cognition, learning and overall neurodevelopment evolution. The assessment of anticipatory gaze data of object-location bindings via eye-tracking can predict the neurodevelopment of preterm infants at the age of 3 years; little is known, however, about the early cognitive function and its assessment methods during the first year of life.
    UNASSIGNED: The current study presents data from a novel assessment tool, a Delayed Match Retrieval (DMR) paradigm via eye-tracking was used to measure visual working memory (VWM) and attention skills. The eye-tracking task that was designed to measure infants\' ability to actively localize objects and to make online predictions of object-location bindings. 63 infants participated in the study, 39 preterm infants and 24 healthy full term infants - at a corrected age of 8-9 months for premature infants and similar chronological age for full term infants. Infants were also administered the Bayley Scales of Infant and Toddler Development.
    UNASSIGNED: The analysis of the Bayley scores showed no significant difference between the two groups while the eye-tracking data showed a significant group effect on all measurements. Moreover, preterm infants\' VWM performance was significantly lower than full term\'s. Birth weight affected the gaze time on all Areas Of Interest (AOIs), overall VWM performance and the scores at the Cognitive Bayley subscale. Furthermore, preterm infants with fetal growth restriction (FGR) showed significant performance effects in the eye-tracking measurements but not on their Bayley scores verifying the high discriminatory value of the eye gaze data.
    UNASSIGNED: Visual working memory and attention as measured via eye-tracking is a non-intrusive, painless, short duration procedure (approx. 4-min) was found to be a significant tool for identifying prematurity and FGR effects on the development of cognition during the first year of life. Bayley Scales alone may not pick up these deficits. Identifying tools for early neurodevelopmental assessments and cognitive function is important in order to enable earlier support and intervention in the vulnerable group of premature infants, given the associations between foundational executive functional skills and later cognitive and academic ability.
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  • 文章类型: Case Reports
    3号染色体长臂中的间质微缺失很少见。在这项研究中,我们发现2例患者在3q26.2q26.31区域存在约5-Mb重叠缺失.两个病人都表现出神经发育迟缓,先天性心脏缺陷,和独特的面部特征。其中一个表现出生长不足和大脑异常,如磁共振成像扫描所示。存在于共同缺失区的NLGN1和FNDC3B的单倍性不足被认为是神经发育迟缓和独特特征的原因。分别。考虑并分析了PLD1中未掩蔽变体的可能性,但是没有发现可能的致病变异,在患者中观察到的先天性心脏缺陷的机制尚不清楚。因为3q26.2q26.31缺失很少,需要更多的信息来建立与该区域微缺失相关的基因型-表型相关性.
    Interstitial microdeletions in the long arm of chromosome 3 are rare. In this study, we identified two patients with approximately 5-Mb overlapping deletions in the 3q26.2q26.31 region. Both patients showed neurodevelopmental delays, congenital heart defects, and distinctive facial features. One of them showed growth deficiency and brain abnormalities, as shown on a magnetic resonance imaging scan. Haploinsufficiency of NLGN1 and FNDC3B present in the common deletion region was considered to be responsible for neurodevelopmental delay and the distinctive features, respectively. The possibility of unmasked variants in PLD1 was considered and analyzed, but no possible pathogenic variant was found, and the mechanism of the congenital heart defects observed in the patients is unknown. Because 3q26.2q26.31 deletions are rare, more information is required to establish genotype-phenotype correlations associated with microdeletions in this region.
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  • 文章类型: Journal Article
    目的:产前细颗粒物(PM2.5)暴露与不良神经发育有关。然而,流行病学证据仍然没有定论,目前关于各种PM2.5成分对儿童神经发育的影响的信息很少。潜在的机制也没有阐明。该研究旨在评估PM2.5和成分暴露对儿童神经发育迟缓的影响以及胎盘小细胞外囊泡(sEV)衍生的miRNA在相关性中的作用。
    方法:我们在这项分析中纳入了267对母子。产前PM2.5和成分(即元素,水溶性离子,通过个人PM2.5采样监测三个月期间的PAHs)暴露。通过年龄和阶段问卷(ASQ)评估2、6和12个月大的儿童神经发育。我们从胎盘组织中分离sEVs以分析sEVs衍生的miRNA响应于PM2.5的变化。使用多元线性回归模型评估PM2.5相关miRNA与儿童神经发育之间的关联。
    结果:三个三个月的PM2.5暴露水平范围为2.51至185.21μg/m3。产前PM2.5和铅的成分,Al,妊娠中期和晚期的V和Ti暴露与ASQ评分降低有关,2个月或6个月儿童的问题解决和个人社交领域。RNA测序鉴定了15种差异表达的miRNA。miR-101-3p和miR-520d-5p与PM2.5和Pb组分呈负相关。miR-320a-3p表达与PM2.5和V组分呈正相关。同时,miR-320a-3p与ASQ评分降低相关,如ASQ-T(β:-2.154,95%CI:-4.313,-0.516)和6个月儿童解决问题领域(β:-0.605,95%CI:-1.111,-0.099)所反映的。
    结论:产前暴露于PM2.5及其铅,Al,V&Ti成分与婴儿神经发育迟缓有关。胎盘sEV来源的miRNA,尤其是miR-320a-3p,可能导致神经发育迟缓的风险增加。
    OBJECTIVE: Prenatal fine particulate matter (PM2.5) exposure has been linked to adverse neurodevelopment. However, epidemiological evidence remains inconclusive and little information about the effects of various PM2.5 components on child neurodevelopment is currently known. The underlying mechanism was also not elucidated. The study aimed to evaluate the effects of PM2.5 and components exposure on child neurodevelopmental delays and the role of placental small extracellular vesicles (sEVs)-derived miRNAs in the associations.
    METHODS: We included 267 mother-child pairs in this analysis. Prenatal PM2.5 and components (i.e. elements, water-soluble ions, and PAHs) exposure during three trimesters were monitored through personal PM2.5 sampling. Child neurodevelopment at 2, 6, and 12 months old were evaluated by Ages and Stages Questionnaire (ASQ). We isolated sEVs from placental tissue to analyze the change of sEVs-derived miRNAs in response to PM2.5. Associations between the PM2.5-associated miRNAs and child neurodevelopment were evaluated using multivariate linear regression models.
    RESULTS: The PM2.5 exposure levels in the three trimesters range from 2.51 to 185.21 μg/m3. Prenatal PM2.5 and the components of Pb, Al, V and Ti exposure in the second and third trimester were related to decreased ASQ scores communication, problem-solving and personal-social domains in children aged 2 or 6 months. RNA sequencing identified fifteen differentially expressed miRNAs. The miR-101-3p and miR-520d-5p were negatively associated with PM2.5 and Pb component. miR-320a-3p expression was positively associated with PM2.5 and V component. Meanwhile, the miR-320a-3p was associated with decreased ASQ scores, as reflected by ASQ-T (β: -2.154, 95 % CI: -4.313, -0.516) and problem-solving domain (β: -0.605, 95 % CI: -1.111, -0.099) in children aged 6 months.
    CONCLUSIONS: Prenatal exposure to PM2.5 and its Pb, Al, V & Ti component were associated with infant neurodevelopmental delays. The placenta sEVs derived miRNAs, especially miR-320a-3p, might contribute to an increased risk of neurodevelopmental delays.
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  • 文章类型: Journal Article
    人乳,早产儿的最终营养来源,增强主机防御机制,胃肠成熟,降低感染率,改善神经发育结果,并减少长期心血管和代谢性疾病。最近,早产儿的供体母乳(DBM)使用有所增加;然而,关于DBM对婴儿生长和神经发育结果的长期影响的数据有限。
    确定极低出生体重(VLBW)婴儿的婴儿营养类型(母体母乳(MBM)或DBM)与神经发育和生长结局之间是否存在关联。
    2014年1月至2016年12月,BaylorScott&White纪念医院新生儿重症监护病房收治的VLBW(<1500g)婴儿的回顾性队列研究。有重大先天性异常的婴儿,出生在外面的医院,在超过15天的时间内,每个操作系统(NPO)为零,或在NICU出院前死亡的患者被排除在外.根据出生后第一个月接受的主要营养(>50%),将婴儿分为两组(MBM或DBM)。通过ICD9/10编码确定的2至4岁之间的神经发育延迟的主要结果。生长数据(体重,长度,和头围)是从12-,18-,24-,36-,和48个月。使用婴儿II临床风险指数(CRIB-II)评分确定疾病的严重程度。使用广义线性模型来评估营养与神经发育延迟之间的关系以及随时间的增长趋势。
    包括二百九名婴儿:146MBM;63DBM。中位胎龄为28周(范围,23-35),中位出生体重为1050g(范围,410-1470)。出生体重没有显着差异,胎龄,CRIB-II评分,或小组之间的停留时间。饲喂DBM的婴儿体重z得分明显更大(p=0.005),长度z分数(p=.01),和头围z分数(p=.04),与MBM婴儿相比,平均从出生到48个月,同时控制NICU的住院时间和随访月数;然而,这只相当于DBM婴儿在48个月时身高0.5磅,体重0.9磅。婴儿营养类型和长期神经发育结局之间没有统计学上的显着差异。同时控制CRIB-II评分。
    与饲喂MBM的婴儿相比,饲喂DBM的婴儿随着时间的推移具有稍微更大的生长倾向。需要更长时间的随访以进一步确定效果,婴儿营养对神经发育的影响。
    UNASSIGNED: Human milk, the ultimate source of nutrition for premature infants, enhances host defense mechanism, gastrointestinal maturation, lowers infection rate, improves neurodevelopmental outcomes, and reduces long-term cardiovascular and metabolic disease. Recently, there has been an increase in donor breast milk (DBM) use for premature infants; however, data are limited on the long-term effects of DBM on the infant\'s growth and neurodevelopmental outcomes.
    UNASSIGNED: To determine if there is an association between type of infant nutrition (maternal breast milk (MBM) or DBM) and neurodevelopmental and growth outcomes in very low birth weight (VLBW) infants.
    UNASSIGNED: Retrospective cohort study of VLBW (<1500 g) infants admitted to the Baylor Scott & White Memorial Hospital Neonatal Intensive Care Unit from January 2014 to December 2016. Infants with major congenital anomalies, born at an outside hospital, who were nil per os (NPO) for >15 days, or who died before NICU discharge were excluded. Infants were stratified into two groups (MBM or DBM) based on predominant nutrition (>50%) received in the first month of life. Primary outcomes of neurodevelopmental delay(s) between 2 and 4 years of age identified via ICD 9/10 codes. Growth data (weight, length, and head circumference) were obtained from well-check visits at 12-, 18-, 24-, 36-, and 48-months. Severity of illness was determined using the Clinical Risk Index in Babies-II (CRIB-II) score. Generalized linear models were used to assess the relationship between nutrition and neurodevelopmental delay and trends in growth over time.
    UNASSIGNED: Two hundred and nine infants were included: 146 MBM; 63 DBM. Median gestational age was 28 weeks (range, 23-35) and median birthweight was 1050 g (range, 410-1470). There were no significant differences in birthweight, gestational age, CRIB-II score, or length of stay between the groups. Infants fed DBM had a significantly larger weight z-score (p=.005), length z-score (p=.01), and head circumference z-score (p=.04), on average from birth to 48 months compared to MBM infants, while controlling for NICU length of stay and number of follow-up months; however, this only equated to DBM infants being 0.5 in taller and 0.9 lbs heavier at 48 months. There were no statistically significant differences among type of infant nutrition and long-term neurodevelopmental outcomes, while controlling for CRIB-II score.
    UNASSIGNED: Infants fed DBM have a slightly greater propensity for growth over time compared to infants fed MBM. Longer follow-up is needed to further determine the effect, infant nutrition has on neurodevelopmental outcomes.
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  • 文章类型: Journal Article
    人类免疫缺陷病毒(HIV)/免疫缺陷综合症(AIDS)是对人类健康的巨大威胁,并且具有挑战性。这项研究旨在确定运动干预是否有可能提高HIV儿童的预期寿命和生活质量。该组由22名参与者组成:11名HIV感染者(51.73个月,SD10.15)和11名受艾滋病毒影响的儿童(44.45个月,标准差10.76)。遵循两组(干预组和对照组)测试前-测试后研究设计。将HIV感染和受影响的儿童随机匹配,并分为干预组和对照组。干预组参加为期12周的运动干预,每次60分钟,每周两次。从运动技能方面分析了该计划的效果,由PDMS-2和两种力量能力建立。校正预测试差异(p<0.05)的ANCOVA表明,在运动中具有统计学意义(p<0.05),具有较大的实际意义(d>0.8),精细的运动和整体运动技能。与受影响的儿童相比,受感染的儿童也表现出更好的改善。运动干预建议在受影响和感染艾滋病毒的儿童的医疗保健路径中,尽管建议修改以改进程序,根据所取得的成果。
    Human immunodeficiency virus (HIV)/Aquired Immune Deficiency Syndrome (AIDS) is a large threat to human health and is challenging to address. This study aims to determine if motor intervention is a possibility for promoting the life expectancy and quality of life of children with HIV. The group consisted of 22 participants: 11 HIV-infected (51.73 months, SD 10.15) and 11 HIV-affected children (44.45 months, SD 10.76). A two-group (intervention and control group) pre-test−post-test research design was followed. The HIV-infected and affected children were randomly matched and grouped into an intervention and control group. The intervention group participated in a 12-week motor intervention of 60 min per session, twice per week. The effect of the program was analyzed with regard to motor skills, as established by the PDMS-2 and two strength capabilities. An ANCOVA adjusted for pre-test differences (p < 0.05) indicated statistically significant improvement (p < 0.05) with large practical significance (d > 0.8) in locomotor, fine motor and overall motor skills. The infected children also showed better improvement compared to the affected children. Motor intervention is recommended in the health care path of children affected and infected with HIV, although modifications for improvement of the program are suggested, based on the results attained.
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  • 文章类型: Journal Article
    Air pollution has been associated with childhood neurodevelopment. However, the role of indoor air pollution, especially volatile organic compounds (VOCs), on childhood neurodevelopment has been poorly explored to date. We investigated the association between indoor air pollutants and childhood neurodevelopment in 5,017 randomly selected children from the Japan Environment and Children\'s Study. When the participants reached 1.5 and 3 years of age, they were followed up with home visits and neurodevelopmental tests using the Ages and Stages Questionnaire (ASQ). At both ages, we collected indoor air samples for 1 week and measured 13 indoor air pollutants: particulate matter with an aerodynamic diameter of ≤2.5 μm, ozone, nitrogen dioxide, sulfur dioxide, and nine VOCs. The associations between air pollutants and ASQ scores were estimated using linear mixed effects models and weighted quantile sum regressions (WQS) at each age separately. Stratified analysis by sex was conducted. Exposure to m,p-xylene at the age of 3 was associated with lower communication, fine motor, and overall ASQ scores (coefficients: -0.18 [99% confidence intervals (CI): -0.35, -0.02], -0.23 [99 %CI: -0.43, -0.03], and - 0.72 [99 %CI: -1.41, -0.04] per 1 µg/m3 increase, respectively). Exposure to o-xylene at the age of 3 was associated with lower communication, gross motor, fine motor, and overall ASQ scores (coefficients: -0.48 [99 %CI: -0.90, -0.07], -0.45 [99 %CI: -0.78, -0.13], -0.65 [99 %CI: -1.14, -0.16], and -2.15 [99 %CI: -3.83, -0.47] per 1 µg/m3 increase, respectively). The WQS index was associated with lower gross motor ASQ scores at the age of 3 (coefficient: -0.27 [95 %CI: -0.51, -0.03] for one-unit WQS index increases), which was attributed to benzene (33.96%), toluene (26.02%), o-xylene (13.62%), and ethylbenzene (9.83%). Stratified analysis showed similar results. Although further investigations are required, our results suggest an association of neurodevelopmental delays with indoor low-level exposure to m,p-xylene and o-xylene in early life.
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  • 文章类型: Journal Article
    背景:这项研究的目的是描述和评估喂养诊所的有用性,以帮助CHD婴儿耐受最高水平的口服喂养,同时实现生长速度和支持神经发育。
    方法:本回顾性研究,队列研究评估了在2016年2月至2020年4月期间,在<30日龄时接受体外循环心脏手术的婴儿的喂养结局.诊断,手术年龄,住院变量,和喂养结果在两个队列之间进行了比较,使用ExactWilcoxon符号秩检验的专业喂养诊所的实施前后,卡方,或者费希尔的精确检验。使用单变量和多变量Cox回归模型评估了完全口服进食时间与危险因素之间的关联。
    结果:临床后婴儿(n=116)手术的中位寿命为6天(四分位距:4、8),中位住院时间为19天(四分位距:16、26)。婴儿首次就诊时的中位年龄为30天(四分位距:24、40),出院后至首次就诊的中位年龄为10天(四分位距:7、12)。在临床后队列中,在临床前队列(n=22)中,100%口服喂养的中位时间为47天(四分位距:27,96),而60天(四分位距:20,84),但差异无统计学意义。
    结论:我们的新生儿手术人群使用心脏喂养诊所,与心脏病学随访配合是可行的。未来对心脏喂养临床影响的评估应包括其他喂养和神经发育成功的措施。
    BACKGROUND: The aim of this study was to describe the development and assess the usefulness of a feeding clinic to help infants with CHD tolerate the highest level of oral feeding while achieving growth velocity and supporting neurodevelopment.
    METHODS: This retrospective, cohort study assessed feeding outcomes for infants who underwent cardiac surgery at <30 days of age with cardiopulmonary bypass between February 2016 and April 2020. Diagnoses, age at surgery, hospitalisation variables, and feeding outcomes were compared between two cohorts, pre- and post-implementation of a specialised feeding clinic using Exact Wilcoxon signed-rank test, chi-squared, or Fisher\'s exact test. The association between time to full oral feed and risk factors was assessed using univariable and multivariable Cox regression model.
    RESULTS: Post-clinic infants (n = 116) surgery was performed at a median of 6 days of life (interquartile range: 4, 8) with median hospital length of stay of 19 days (interquartile range: 16, 26). Infants\' median age at first clinic visit was at 30 days old (interquartile range: 24, 40) and took median 10 days (interquartile range: 7, 12) after hospital discharge to first clinic visit. In the post-clinic cohort, the median time to 100% oral feeding was 47 days (interquartile range: 27, 96) compared to the 60 days (interquartile range: 20, 84) in the pre-clinic cohort (n = 22), but the difference was not statistically significant.
    CONCLUSIONS: The cardiac feeding clinic was utilised by our neonatal surgery population and feasible in coordination with cardiology follow-up visits. Future assessment of cardiac feeding clinic impact should include additional measures of feeding and neurodevelopmental success.
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  • 文章类型: Case Reports
    A focused genetic workup is useful in determining the cause of familial microcephaly, especially in the setting of mildly different phenotypes. As illustrated by this case from an impoverished international urban location, one must not assume the etiology for the apparent familial microcephaly is the same for all affected members.
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  • DOI:
    文章类型: Journal Article
    目的:文献中的一些研究报道,抗抑郁药与母亲怀孕期间暴露于自闭症儿童的自闭症症状发展有关。也有报道称,在相同条件下,与抗抑郁药接触相关的神经发育延迟。
    方法:我们搜索了PUBMED,MEDLINE,心术,和ERIC为1983年1月至2013年5月之间发表的原始文章,以确定有关自闭症谱系障碍(ASD)与儿童神经发育迟缓和妊娠期抗抑郁药暴露之间的相关性的研究。
    结论:在我们的前期工作结束时,我们只保留了三篇与我们研究目的相关的文章。我们提取了Excel文件中的可用数据,然后进行了荟萃分析。最终结果表明,子宫内抗抑郁药的暴露与自闭症谱系障碍之间存在正相关。
    OBJECTIVE: Antidepressants have been reported in several studies in the literature to be associated with the development of autistic disorder symptoms in children exposed to them during the time of their mothers\' pregnancies. There have also been reports of neurodevelopment delays associated with exposure to antidepressants in the same conditions.
    METHODS: We searched the PUBMED, MEDLINE, PsycARTICLES, and ERIC for original articles published between January 1983 and May 2013 to identify studies on the association between autistic spectrum disorders (ASD) and neurodevelopment delays in children and exposure to antidepressants during pregnancy.
    CONCLUSIONS: At the end of our preliminary work, we retained only three articles that were pertinent to the purpose of our study. We extracted the available data in Excel files and then did a meta-analysis. The final results showed a positive association between the exposure to antidepressants in utero and autistic spectrum disorders.
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  • 文章类型: Case Reports
    Microduplication of chromosome 17p13.1 is a rarely reported chromosome abnormality associated with neurodevelopmental delays. We describe two unrelated patients with overlapping microduplications of chromosome 17p13.1. The first patient is a 2-year-old male who presented with neurodevelopmental delays and macrocephaly. He was found to have a de novo 788 kb copy gain of 17p13.2p13.1 and a de novo 134 kb copy gain of 17p13.1. These duplications include multiple candidate genes, including EFNB3, NLGN2, DLG4, GABARAP, and DULLARD, which may be responsible for neurodevelopmental delays in affected individuals. The second patient is a 29-year-old female with mild intellectual disability and relative macrocephaly. She was found to have a 62.5 kb copy gain of chromosome 17p13.1 that includes the DLG4, GABARAP, and DULLARD genes. The DLG4, GABARAP, and DULLARD genes included in the microduplications of both our patients appear to be candidate genes for neurodevelopmental delays and macrocephaly in individuals with 17p13.1 microduplication syndrome.
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