Sudden Infant Death

婴儿猝死
  • 文章类型: Journal Article
    自2000年代中期以来,美国婴儿突然意外死亡(SUID)的发生率一直保持在大致相同的水平,尽管围绕安全睡眠进行了密集的预防工作。种族和社会经济领域的结果差异也仍然存在。这些差异反映在社区之间案件的空间分布中。预防战略应在空间和时间上准确定位,以进一步减少SUID和纠正差距。
    我们试图通过描述库克县发生SUID的社区来帮助社区一级的预防工作,IL,从2015年到2019年,并预测它将在2021-2025年使用半自动,基于开源软件和数据的可重复工作流程。
    这项横断面回顾性研究查询了2015-2019年的地理编码医学检查员数据,以识别库克县的SUID病例,IL,并将它们聚合到“社区”作为分析单位。我们使用Wilcoxon秩和统计检验比较了受SUID影响的社区与未受影响的社区的人口统计学因素。我们使用2014年的社会脆弱性指标来训练2015-2019年每个给定社区SUID病例数的负二项预测模型。我们将2020年的指标应用于经过训练的模型,对2021-2025年进行预测。
    我们对医学检查人员数据的查询的验证产生了325例最终病例,敏感性为95%(95%CI93%-97%),特异性为98%(95%CI94%-100%)。社区级别的病例计数范围从最小0到最大17。SUID病例计数地图显示了该县南部和西部地区的社区集群。所有病例数最高的社区都位于芝加哥市区范围内。受SUID影响的社区非西班牙裔白人居民的中位数比例较低,分别为17%和60%(P<.001),非西班牙裔黑人居民的中位数比例较高,分别为32%和3%(P<.001)。当在训练数据上评估时,我们的预测模型显示出中等准确性(NagelkerkeR2=70.2%,RMSE=17.49)。它预测了奥斯汀(17例),恩格尔伍德(14例),奥本·格雷沙姆(12例),芝加哥草坪(12例)南岸(11例)将在2021年至2025年期间拥有最大的病例数。
    从2015年到2019年,库克县SUID发病率的明显种族和社会经济差异仍然存在。我们的预测模型和地图确定了县内的精确区域,供地方卫生部门进行干预。其他司法管辖区可以调整我们的编码工作流程和数据源,以预测哪些社区将受到SUID的影响最大。
    UNASSIGNED: The incidence of sudden unexpected infant death (SUID) in the United States has persisted at roughly the same level since the mid-2000s, despite intensive prevention efforts around safe sleep. Disparities in outcomes across racial and socioeconomic lines also persist. These disparities are reflected in the spatial distribution of cases across neighborhoods. Strategies for prevention should be targeted precisely in space and time to further reduce SUID and correct disparities.
    UNASSIGNED: We sought to aid neighborhood-level prevention efforts by characterizing communities where SUID occurred in Cook County, IL, from 2015 to 2019 and predicting where it would occur in 2021-2025 using a semiautomated, reproducible workflow based on open-source software and data.
    UNASSIGNED: This cross-sectional retrospective study queried geocoded medical examiner data from 2015-2019 to identify SUID cases in Cook County, IL, and aggregated them to \"communities\" as the unit of analysis. We compared demographic factors in communities affected by SUID versus those unaffected using Wilcoxon rank sum statistical testing. We used social vulnerability indicators from 2014 to train a negative binomial prediction model for SUID case counts in each given community for 2015-2019. We applied indicators from 2020 to the trained model to make predictions for 2021-2025.
    UNASSIGNED: Validation of our query of medical examiner data produced 325 finalized cases with a sensitivity of 95% (95% CI 93%-97%) and a specificity of 98% (95% CI 94%-100%). Case counts at the community level ranged from a minimum of 0 to a maximum of 17. A map of SUID case counts showed clusters of communities in the south and west regions of the county. All communities with the highest case counts were located within Chicago city limits. Communities affected by SUID exhibited lower median proportions of non-Hispanic White residents at 17% versus 60% (P<.001) and higher median proportions of non-Hispanic Black residents at 32% versus 3% (P<.001). Our predictive model showed moderate accuracy when assessed on the training data (Nagelkerke R2=70.2% and RMSE=17.49). It predicted Austin (17 cases), Englewood (14 cases), Auburn Gresham (12 cases), Chicago Lawn (12 cases), and South Shore (11 cases) would have the largest case counts between 2021 and 2025.
    UNASSIGNED: Sharp racial and socioeconomic disparities in SUID incidence persisted within Cook County from 2015 to 2019. Our predictive model and maps identify precise regions within the county for local health departments to target for intervention. Other jurisdictions can adapt our coding workflows and data sources to predict which of their own communities will be most affected by SUID.
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  • 文章类型: Journal Article
    目的:我们调查了1996年至2015年婴儿期猝死(SUDI)尸检数据,比较有和没有预先存在的医疗条件的婴儿的结果。
    方法:大型,回顾性单中心尸检系列。
    方法:三级儿科医院,伦敦,英国。
    方法:从现有的研究数据库中提取了7天至365天以上突然意外死亡的婴儿(SUDI;n=1739)的尸检结果。病例分为有既往疾病的SUDI(SUDI-PEC)(n=233)与无PEC的SUDI(SUDI非PEC)(n=929),其中PEC表示潜在的限制生命的预先存在的医疗条件。比较两组之间的结果,包括评估PEC的类型以及死亡是医学解释(传染性或非传染性)还是显然无法解释。
    结果:与SUDI非PEC相比,SUDI-PEC的中位死亡年龄更大(129天比67天),男女比例相似(1.4:1)。与SUDI非PEC相比,SUDI-PEC在医学上解释的死亡比例更高(73%对30%)。在解释过的SUDI中,SUDI-PEC非感染性死亡比例高于SUDI非PEC(66%vs32%).SUDI-PEC(感染性)婴儿最有可能患有呼吸道感染(64%),易感PEC,包括神经学,患有PEC的早产,和综合症或其他异常。
    结论:SUDI-PEC的死亡发生在婴儿期后期,并且可能将其死亡归因于PEC,即使没有具体的阳性尸检结果。未来的研究应旨在进一步定义该队列,以帮助告知SUDI验尸指南,儿科临床实践减少婴儿死亡,并降低PEC背景下死亡过度归因的风险。
    OBJECTIVE: We investigated sudden unexpected death in infancy (SUDI) autopsy data from 1996 to 2015 inclusive, comparing findings from infants with and without pre-existing medical conditions.
    METHODS: Large, retrospective single-centre autopsy series.
    METHODS: Tertiary paediatric hospital, London, UK.
    METHODS: Non-identifiable autopsy findings were extracted from an existing research database for infants older than 7 days up to and including 365 days old who died suddenly and unexpectedly (SUDI; n=1739). Cases were classified into SUDI with pre-existing condition (SUDI-PEC) (n=233) versus SUDI without PEC (SUDI non-PEC) (n=929), where PEC indicates a potentially life-limiting pre-existing medical condition. Findings were compared between groups including evaluation of type of PEC and whether the deaths were medically explained (infectious or non-infectious) or apparently unexplained.
    RESULTS: Median age of death was greater in SUDI-PEC compared with SUDI non-PEC (129 days vs 67 days) with similar male to female ratio (1.4:1). A greater proportion of deaths were classified as medically explained in SUDI-PEC versus SUDI non-PEC (73% vs 30%). Of the explained SUDI, a greater proportion of deaths were non-infectious for SUDI-PEC than SUDI non-PEC (66% vs 32%). SUDI-PEC (infectious) infants were most likely to have respiratory infection (64%), with susceptible PEC, including neurological, prematurity with a PEC, and syndromes or other anomalies.
    CONCLUSIONS: SUDI-PEC deaths occur later in infancy and are likely to have their death attributed to their PEC, even in the absence of specific positive autopsy findings. Future research should aim to further define this cohort to help inform SUDI postmortem guidelines, paediatric clinical practice to reduce infant death, and to reduce the risk of overattribution of deaths in the context of a PEC.
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  • 文章类型: Journal Article
    婴儿猝死综合症(SIDS)是一种悲剧性和毁灭性的疾病,其原因在很大程度上仍然未知。最近的研究表明,儿童肠道菌群的组成在SIDS的发展中起着重要作用。
    这项工作旨在研究那些影响肠道菌群组成的因素,它们在发展小岛屿发展中国家中的作用以及预防小岛屿发展中国家的新战略,通过对文献的详细审查,显示出新的解释。生理条件下的肠道主要由拟杆菌组成,Firmicutes,放线菌,和变形杆菌,但是当存在生态失调或不同的微生物群落时,由于微生物群落的改变可导致肠-脑轴的中断和SIDS的风险增加,因此疾病的发作可能性更大。
    所有这些都意味着可以改变微生物组的组成,以降低新生儿猝死的风险。文献的结果提供了有关肠道微生物组在SIDS中的潜在作用的有价值的信息,即使尚未明确所有机制,尤其是死亡机制.因此,在小岛屿发展中国家的情况下,在进行尸检时也有必要调查这一地区;为此,我们建议向家庭成员发放问卷,以了解新生儿和家庭的饮食习惯,并结合微生物学调查,探索每一个可能的假设。
    UNASSIGNED: Sudden infant death syndrome (SIDS) is a tragic and devastating condition whose causes remain largely unknown. Recent studies have shown that the composition of a child\'s gut flora can play a significant role in the development of SIDS.
    UNASSIGNED: This work aims to research those factors that influence the composition of the intestinal flora, the role they have in the development of SIDS and the new strategies for preventing SIDS showing a new interpretation through a detailed review of the literature. The gut in physiological conditions is mainly composed of Bacteroidetes, Firmicutes, Actinobacteria, and Proteobacteria, but when there is the presence of dysbiotic or different microbial communities, the onset of the disease is more likely as an altered microbial community can lead to an interruption of the gut-brain axis and an increased risk of SIDS.
    UNASSIGNED: All this implies that the composition of the microbiome can be modified to reduce the risk of sudden death in newborns. The results of the literature provide valuable information on the potential role of the intestinal microbiome in SIDS even if not all mechanisms are yet clear, especially in the mechanisms of death. Therefore, it is necessary in cases of SIDS when carrying out an autopsy to also investigate this area; to this end, we suggest a questionnaire to be administered to family members to understand the eating habits of the newborn and the family and integrate with microbiological investigations to explore every possible hypothesis.
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  • 文章类型: Journal Article
    背景:婴儿猝死综合症(SIDS)是1岁以下婴儿的意外死亡,这种情况在没有任何死亡风险迹象的情况下发生,即使在调查后也没有解释,尸检和死亡部位的审查。护士是与儿童和家庭一起工作的重要医疗保健专业人员,可以为预防可避免的婴儿死亡做出贡献。因为小岛屿发展中国家是可以预防的,医疗团队的永久教育,家庭成员和婴儿照顾者是必要的。
    目的:探索有关知识的科学文献,对小岛屿发展中国家的态度和做法。
    方法:将进行范围审查。定量或定性的主要研究,theses,英文学位论文以及技术和政府文件,西班牙语,法语或葡萄牙语将被考虑,没有搜索选择的时间限制,在数据库中:Pubmed,Embase,Scopus,虚拟健康图书馆,巴西研究所和Cochrane的论文和论文数字图书馆。将使用以下主题中的关键字详细阐述搜索策略:知识,态度,实践,婴儿猝死和医疗保健。资格标准将适用于选定文章的参考文献,以确定新的研究。选定的研究将进行专题内容分析,它允许通过编码主题的系统分类过程对数据进行解释,以分析定量和定性研究以及元聚合。NVIVOV.14软件将用于组织,代码并验证数据。
    背景:不需要道德批准。结果将通过专业网络传播给卫生科学界,会议演讲和在科学期刊上发表。
    BACKGROUND: Sudden infant death syndrome (SIDS) is the unexpected death of an infant less than 1 year old, which occurs without presentation of any signs of mortality risk and it is not explained even after investigation, necropsy and review of the site of death. The nurse is an essential healthcare professional working with children and families who can contribute to preventing avoidable deaths of infants. Because SIDS is preventable, permanent education of the healthcare team, family members and infant caregivers is necessary.
    OBJECTIVE: To explore the scientific literature about knowledge, attitudes and practice on SIDS.
    METHODS: A scoping review will be conducted. Quantitative or qualitative primary studies, theses, dissertations and technical and governmental documents in English, Spanish, French or Portuguese will be considered, without a time limit for selection with search, in the databases: Pubmed, Embase, Scopus, Virtual Health Library, Digital Library of Theses and Dissertations of the Brazilian Institute and Cochrane. A search strategy will be elaborated with the keywords in the following themes: knowledge, attitudes, practice, sudden infant death and healthcare. The eligibility criteria will be applied to references of selected articles to identify new studies. The studies selected will be subjected to thematic content analysis, which allows data interpretation through a systematic classification process for coding themes to the analysis of quantitative and qualitative studies and meta-aggregation. NVIVO V.14 software will be used to organise, code and validate the data.
    BACKGROUND: Ethics approval is not required. The results will be disseminated to the health science community through professional networks, conference presentations and publication in a scientific journal.
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  • 文章类型: Journal Article
    目标:在美国,由于意外窒息和勒死在床上而导致的突然意外婴儿死亡正在增加。虽然母乳喂养是防止婴儿突然意外死亡的保护因素,母乳喂养的动机通常与不安全的婴儿睡眠习惯相结合。婴儿突然意外死亡时存在种族/族裔差异,在床上意外窒息和勒死,和母乳喂养。
    背景:通过社区层面的倡议促进婴儿安全睡眠和母乳喂养可以解决相关结果的差异。
    目的:调查社区层面的策略与婴儿安全睡眠和母乳喂养相关的州层面结果之间的关系。
    方法:我们采用了干预混合方法框架和探索性序贯设计。定性部分需要一个解释学现象学框架,以分析来自参与实践改进计划的七个美国社区级提供者的关键线人访谈数据。定量成分需要从2019年怀孕风险评估监测系统和俄亥俄州怀孕评估调查中描述性分析婴儿安全睡眠和母乳喂养指标。定性和定量数据通过嵌入式集成联系起来。
    结果:我们发现了两个混合的见解:晋升和结果方面的差距,以及婴儿安全睡眠与母乳喂养促进和结局之间的持续差异。
    结论:我们的研究结果表明,对话方法可以改善婴儿的安全睡眠和促进母乳喂养,结果,和相对差距。我们发现,需要社区合作来解决组织能力限制,以促进婴儿安全睡眠和母乳喂养。
    结论:社区层面的组织和提供者应考虑调整项目提供和护理交付,包括对话方法和社区合作,以促进婴儿安全睡眠和母乳喂养,并减少结局的相对差异。
    OBJECTIVE: In the U.S., sudden unexpected infant deaths due to accidental suffocation and strangulation in bed are increasing. Though breastfeeding is a protective factor against sudden unexpected infant death, motivations to breastfeed often couple with unsafe infant sleep practices. Racial/ethnic disparities are present in sudden unexpected infant death, accidental suffocation and strangulation in bed, and breastfeeding.
    BACKGROUND: Promoting infant safe sleep and breastfeeding through community-level initiatives could address disparities in related outcomes.
    OBJECTIVE: Investigate the relationship between community-level strategies and associated state-level outcomes for infant safe sleep and breastfeeding.
    METHODS: We employed an intervention mixed methods framework and exploratory sequential design. The qualitative component entailed a hermeneutical phenomenological framework to analyze key informant interview data from seven U.S. community-level providers participating in a practice improvement initiative. The quantitative component entailed descriptively analyzing infant safe sleep and breastfeeding indicators from the 2019 Pregnancy Risk Assessment Monitoring System and Ohio Pregnancy Assessment Survey. Qualitative and quantitative data were linked through embedded integration.
    RESULTS: We identified two mixed insights: gaps in promotion and outcomes, and persistent disparities between infant safe sleep and breastfeeding promotion and outcomes.
    CONCLUSIONS: Our findings indicate conversational approaches could improve infant safe sleep and breastfeeding promotion, outcomes, and relative disparities. We find that community collaboration is needed to address organizational capacity limitations in promoting infant safe sleep and breastfeeding.
    CONCLUSIONS: Community-level organizations and providers should consider tailoring program offerings and care delivery to include conversational approaches and community collaboration to promote infant safe sleep and breastfeeding and decrease relative disparities in outcomes.
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  • 文章类型: Journal Article
    背景:夜间睡眠巩固被认为是早期婴儿睡眠发育的主要目标。然而,导致夜间睡眠巩固的因素仍不清楚。
    目的:阐明光环境和夜间共睡对早期婴儿夜间睡眠巩固的影响。
    方法:横断面研究。
    方法:使用肌动描记术连续4天测量婴儿的睡眠-觉醒时间和光刺激。婴儿的母亲被要求完成睡眠事件日记和关于儿童保育的问卷,包括“同睡”,定义为婴儿和母亲整夜睡在同一表面上。
    方法:分析数据,重点是白天和夜间睡眠参数。
    结果:白天光线刺激减少了白天的“主动睡眠”,倾向于减少白天的睡眠,增加白天的清醒。夜间光线刺激减少了夜间“安静睡眠”和夜间睡眠,增加了夜间清醒。共同睡觉减少了夜间醒来,and,因此,夜间睡眠时间和睡眠效率提高。共眠减少了白天的睡眠,并倾向于增加白天的清醒。因此,同睡倾向于增加夜间睡眠与白天睡眠的比率。
    结论:目前的研究结果表明,适当的光照环境可以促进早期婴儿的白天清醒和夜间睡眠,但它本身并不有助于睡眠巩固到夜间。另一方面,共同睡眠可以促进睡眠巩固到夜间。因此,需要进一步建立安全共睡的方法,同时避免婴儿期/婴儿猝死综合征中猝死的危险因素.
    BACKGROUND: Sleep consolidation into nighttime is considered the primary goal of sleep development in early infants. However, factors contributing to sleep consolidation into nighttime remain unclear.
    OBJECTIVE: To clarify the influences of the light environment and nighttime co-sleeping on sleep consolidation into nighttime in early infants.
    METHODS: Cross-sectional study.
    METHODS: Sleep-wake time and light stimulation were measured in infants for 4 consecutive days using actigraphy. The infants\' mothers were asked to complete a sleep events diary and a questionnaire about childcare, including \"co-sleeping\", defined as when the infant and mother slept on the same surface throughout the night.
    METHODS: The data were analyzed with a focus on daytime and nighttime sleep parameters.
    RESULTS: Daytime light stimulation reduced daytime \"active sleep\", tended to reduce daytime sleep, and increased daytime waking. Nighttime light stimulation reduced nighttime \"quiet sleep\" and nighttime sleep and increased nighttime waking. Co-sleeping reduced nighttime waking, and, as a result, nighttime sleep time and sleep efficiency increased. Co-sleeping reduced daytime sleep and tended to increase daytime waking. Consequently, co-sleeping tended to increase the ratio of nighttime sleep to daytime sleep.
    CONCLUSIONS: The present findings suggest that an appropriate light environment promotes daytime waking and nighttime sleep in early infants, but it does not contribute to sleep consolidation into nighttime by itself. On the other hand, co-sleeping may promote sleep consolidation into nighttime. Therefore, further methods for safe co-sleeping need to be established while avoiding risk factors for sudden unexpected death in infancy/sudden infant death syndrome.
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  • 文章类型: Journal Article
    背景:尽管婴儿死亡率很低,Aotearoa新西兰婴儿猝死(SUDI)的发生率很高,对太平洋婴儿的影响不成比例。这项研究探索了婴儿护理实践,与汤加人SUDI风险增加相关的因素和关系,萨摩亚人,库克群岛毛利人,和新西兰的纽埃母亲,为基于证据的干预措施提供信息,以减少太平洋家庭及其子女的SUDI发病率。
    方法:分析包括2009-2010年从1089个萨摩亚人收集的数据,汤加,库克群岛毛利人和纽埃人的母亲参加了在新西兰长大的纵向队列研究。在6周时评估婴儿的睡眠环境(同床和睡眠位置)。进行多变量logistic回归分析,控制社会人口统计学因素,以探索选定的孕产妇和妊娠支持与环境因素和婴儿睡眠环境之间的关系。
    结果:在家用英语以外的语言交谈的母亲,咨询替代医生的母亲不太可能遵循婴儿睡姿指南。同样的语言,吸烟,酒精,家庭住宅,拥挤和获得家庭医生或全科医生与遵循同床指南的母亲有关。
    结论:如果有关危险因素的交流更包括不同种族,则SUDI对太平洋婴儿的影响可能会减轻或预防。文化世界观,和语言。获得负担得起的住房等社会结构问题也很重要。这项研究表明,需要更有针对性或量身定制的干预措施,以文化上尊重和有意义的方式促进安全睡眠并降低苏迪病的发生率。新西兰。
    Despite a low rate of infant mortality, Aotearoa New Zealand has a high rate of Sudden Unexpected Death in Infants (SUDI), with disproportionate impact for Pacific infants. This study explored the infant care practices, factors and relationships associated with increased risk of SUDI amongst Tongan, Samoan, Cook Islands Māori, and Niuean mothers in New Zealand, to inform evidence-based interventions for reducing the incidence of SUDI for Pacific families and their children.
    Analysis comprised of data collected in 2009-2010 from 1089 Samoan, Tongan, Cook Islands Māori and Niuean mothers enrolled in the Growing Up in New Zealand longitudinal cohort study. The sleeping environment (bed-sharing and sleep position) of the infants was assessed at 6 weeks. Multivariable logistic regression analysis were conducted, controlling for sociodemographic factors to explore the association between selected maternal and pregnancy support and environment factors and the sleeping environment for infants.
    Mothers who converse in languages other than English at home, and mothers who consulted alternative practitioners were less likely to follow guidelines for infant sleeping position. Similarly language, smoking, alcohol, household dwelling, crowding and access to a family doctor or GP were associated with mothers following guidelines for bed-sharing.
    The impact of SUDI on Pacific infants may be lessened or prevented if communication about risk factors is more inclusive of diverse ethnic, cultural worldviews, and languages. Societal structural issues such as access to affordable housing is also important. This research suggests a need for more targeted or tailored interventions which promote safe sleeping and reduce rates of SUDI in a culturally respectful and meaningful way for Pasifika communities in Aotearoa, New Zealand.
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  • 文章类型: Journal Article
    婴儿猝死综合征(SIDS)是美国1个月至1岁婴儿最常见的死亡原因。目的是审查美国小岛屿发展中国家的最新趋势,随着时间的推移,性别和种族。从2000年到2019年,使用疾病控制和预防中心(CDC)的“出生数据”和“死亡率多种原因”文件的数据,对80710348例活产婴儿进行了基于人群的横断面研究。Logistic回归检查了性别和种族对SIDS风险的影响,并检查了研究期间性别和种族风险的时间变化。从2000年到2019年,SIDS的发病率从6.3例下降到3.4/10000例,总体发病率为4.9/10000例(95%置信区间[CI]=4.4-5.3)。男性婴儿患SIDS的风险最大,黑人和美洲印第安人婴儿也是如此。尽管随着时间的推移,SIDS的发病率因性别和种族而下降,西班牙裔和美洲印第安人婴儿的下降幅度较小.
    Sudden infant death syndrome (SIDS) is the most common cause of death for infants between 1 month and 1 year of age in the United States. The objective was to examine recent trends in SIDS in the United States, over time and by sex and race. A population-based cross-sectional study was conducted on 80 710 348 live births using data from the Center for Disease Control and Prevention\'s (CDC) \"Birth Data\" and \"Mortality Multiple Cause\" files from 2000 to 2019. Logistic regression examined the effects of sex and race on the risk of SIDS and examined temporal changes in risk across sex and race over the study period. Incidence of SIDS decreased from 6.3 to 3.4/10 000 births from 2000 to 2019, with an overall incidence of 4.9/10 000 births (95% confidence interval [CI] = 4.4-5.3). Male infants were at the greatest risk of SIDS as were black and American Indian infants. Although SIDS incidence decreased by sex and race over time, the decline was smaller among Hispanic and American Indian infants.
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  • 文章类型: Journal Article
    背景技术婴儿猝死综合征(SIDS)是1岁以下死亡的主要原因。儿童猝死(SUDC)类似,但主要影响1至4岁的幼儿。SUDC比小岛屿发展中国家更罕见,尽管心脏遗传学测试(分子尸检)确定了一小部分SIDS的根本原因,对SUDC的了解较少。方法和结果77例SIDS和16例SUDC患者接受了25个明确证据的心律失常相关基因的分子尸检。在18个案例中,分析了另外76个具有不同程度证据的基因。为父母提供了级联筛查。临床遗传数据的双盲审查建立了基因型-表型相关性。SUDC中25个基因中可能致病变异的产量高于SIDS(18.8%[3/16]对2.6%[2/77],分别为;P=0.03),而具有不确定意义的新型/超罕见变体的代表性相当。仅在SIDS中发现了意义不确定的罕见变异和可能的良性变异。在扩展分析的情况下,可能的致病性/可能的良性变异仅源于明确证据基因,而所有其他基因仅贡献了不确定意义的变异。在接受筛查的24位父母中,变异状态和表型基本一致,3例与心血管病呈正相关。基因型-表型相关性显着辅助变体裁定。结论SUDC的遗传产量高于SIDS,尽管,在两者中,它仅由确定的证据基因贡献。SIDS/SUDC级联家庭筛查有助于通过明确的变体裁决确定或驳回诊断,表明匿名不再是合理的。信道病变可能是SUDC的相关部分的基础。遗传因果关系的二元分类(致病性与良性)并不总是足够的。
    Background Sudden infant death syndrome (SIDS) is the leading cause of death up to age 1. Sudden unexplained death in childhood (SUDC) is similar but affects mostly toddlers aged 1 to 4. SUDC is rarer than SIDS, and although cardiogenetic testing (molecular autopsy) identifies an underlying cause in a fraction of SIDS, less is known about SUDC. Methods and Results Seventy-seven SIDS and 16 SUDC cases underwent molecular autopsy with 25 definitive-evidence arrhythmia-associated genes. In 18 cases, another 76 genes with varying degrees of evidence were analyzed. Parents were offered cascade screening. Double-blind review of clinical-genetic data established genotype-phenotype correlations. The yield of likely pathogenic variants in the 25 genes was higher in SUDC than in SIDS (18.8% [3/16] versus 2.6% [2/77], respectively; P=0.03), whereas novel/ultra-rare variants of uncertain significance were comparably represented. Rare variants of uncertain significance and likely benign variants were found only in SIDS. In cases with expanded analyses, likely pathogenic/likely benign variants stemmed only from definitive-evidence genes, whereas all other genes contributed only variants of uncertain significance. Among 24 parents screened, variant status and phenotype largely agreed, and 3 cases positively correlated for cardiac channelopathies. Genotype-phenotype correlations significantly aided variant adjudication. Conclusions Genetic yield is higher in SUDC than in SIDS although, in both, it is contributed only by definitive-evidence genes. SIDS/SUDC cascade family screening facilitates establishment or dismissal of a diagnosis through definitive variant adjudication indicating that anonymity is no longer justifiable. Channelopathies may underlie a relevant fraction of SUDC. Binary classifications of genetic causality (pathogenic versus benign) could not always be adequate.
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  • 文章类型: Journal Article
    背景:在美国,婴儿猝死(SUID)的发生率仍然很高。SUID预防教育对婴儿安全睡眠实践的纵向影响鲜为人知。当前的研究评估了以综合医院为基础的效果,SUID对婴儿出生后六个月内安全睡眠行为的预防性干预,并确定与婴儿睡眠行为相关的因素。
    方法:使用一组前测和多个后测设计,目前的定量研究检查了婴儿安全睡眠干预对总体招募的411名女性的影响,城市,大学医学中心。前瞻性地跟踪参与者,并从分娩开始完成四项调查。线性混合模型用于评估SUID预防计划对四种睡眠练习结果的影响,包括从睡眠环境中移除不安全的物品,床共享,没有床共享的房间共享,并将婴儿置于仰卧睡眠姿势。
    结果:与基线相比,参与者不太可能使用不安全物品(例如,柔软的床上用品)在婴儿的睡眠区域随着时间的推移。然而,我们发现参与者在3个月和6个月的随访中报告了更频繁的同床,与基线相比。
    结论:总体而言,母亲教育和家庭收入与健康婴儿安全睡眠习惯呈正相关.基于医院的预防性干预措施将教育计划与家庭访问服务相结合,可能会改善安全的睡眠习惯,以消除婴儿睡眠环境中的意外窒息风险。
    BACKGROUND: The rates of sudden unexpected infant death (SUID) are still high in the U.S. The longitudinal effects of SUID preventive education on infant safe sleep practices are less known. The current study evaluated the effects of a comprehensive hospital-based, SUID preventive intervention on safe infant sleep practices in the first six months of life and to identify factors associated with infant sleep practices.
    METHODS: Using a one-group pretest and multiple posttest design, the current quantitative study examined the impacts of the infant safe sleep intervention among 411 women recruited at a large, urban, university medical center. Participants were prospectively followed and completed four surveys from childbirth. Linear mixed models were used to evaluate the effects of the SUID prevention program on four sleep practice outcomes, including removing unsafe items from the sleeping environment, bed sharing, room sharing without bed sharing, and placing the infant in a supine sleep position.
    RESULTS: Compared to the baseline, participants were less likely to use unsafe items (e.g., soft bedding) in infants\' sleeping areas over time. However, we found that participants reported more frequent bed sharing at 3-month and 6-month follow-ups, compared to the baseline.
    CONCLUSIONS: Overall, maternal education and family income were positively related to healthy infant safe sleep practices. A hospital-based preventive intervention pairing an educational initiative with home-visiting services might improve safe sleep practices to remove accidental suffocation risks from the infant sleep environment.
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