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Rethinking "Mild" Concussion in Early Childhood. 重新思考儿童早期的“轻度”脑震荡。
IF 8 2区 医学 Q1 PEDIATRICS Pub Date : 2026-01-26 DOI: 10.1542/peds.2025-074668
Hanna Heintz,Robert W Hickey,Danny G Thomas
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引用次数: 0
Postdischarge Follow-Up of Infants With Congenital Diaphragmatic Hernia: Clinical Report. 婴儿先天性膈疝出院后随访:临床报告。
IF 8 2区 医学 Q1 PEDIATRICS Pub Date : 2026-01-26 DOI: 10.1542/peds.2025-074114
Tim Jancelewicz,Ashley Lucke,Charleta Guillory, ,
This clinical report provides an updated evidence-based set of recommendations for the long-term follow-up of patients with congenital diaphragmatic hernia (CDH) after discharge from initial hospitalization. Since the last American Academy of Pediatrics report was published over 15 years ago, there have been significant advances in our understanding of the manifestations, diagnostic and surveillance approaches, and therapies for the cardiopulmonary, neurodevelopmental, gastrointestinal/nutritional, and surgical adverse outcomes that are commonly encountered in patients with CDH. Consideration is also given to patient and caregiver quality of life, which has been a relatively overlooked component of this disease in previous CDH guidance. Because CDH severity and the prevalence of adverse outcomes are not only variable but also change with patient age, differential guidance is provided based on low-risk and high-risk status and are presented in a timeline format. Providers may use the guidance in this clinical report to develop an individualized long-term plan that balances care with available resources to support quality of life through the lifespan.
本临床报告为先天性膈疝(CDH)患者首次住院出院后的长期随访提供了一套最新的循证建议。自从15年前美国儿科学会发表上一份报告以来,我们对CDH患者常见的心肺、神经发育、胃肠道/营养和手术不良后果的表现、诊断和监测方法以及治疗的理解取得了重大进展。还考虑到患者和护理者的生活质量,这在以前的CDH指南中一直是相对被忽视的疾病组成部分。由于CDH的严重程度和不良后果的发生率不仅是可变的,而且随着患者年龄的变化而变化,因此根据低风险和高风险状态提供不同的指导,并以时间轴形式呈现。提供者可以使用本临床报告中的指导来制定个性化的长期计划,平衡护理与可用资源,以支持生命周期的生活质量。
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引用次数: 0
NICU Virtual Family-Centered Rounds: A Cluster Randomized Controlled Trial. NICU虚拟家庭中心查房:一项随机对照试验。
IF 8 2区 医学 Q1 PEDIATRICS Pub Date : 2026-01-23 DOI: 10.1542/peds.2025-073588
Jennifer L Rosenthal,Kristin R Hoffman,Daniel J Tancredi,James P Marcin,Audriana Ketchersid,Elva T Horath,Erika N Zerda,Trevor R Bushong,Daniel S Merriott,Heather M Young,Patrick S Romano
BACKGROUND AND OBJECTIVEThe use of telehealth to bring a family member virtually to the bedside for family-centered rounds (FCR) is a promising strategy to increase family members' access. We aimed to evaluate the impact of offering families the option to use virtual FCR in the neonatal intensive care unit (NICU) on parental and neonatal outcomes.METHODSThis 2-arm cluster randomized controlled trial assigned families of hospitalized infants to the option of using virtual FCR (intervention) or to usual care (control). Intervention families could also attend FCR in person (usual care). All eligible families of infants who were admitted to this single-site neonatal intensive care unit during the study period were included. Outcomes included FCR attendance, parent experience, family-centered care, parent activation, parent health-related quality of life, length of stay, breastmilk feeding, and neonatal growth.RESULTSFrom March 2023 to 2024, 486 families were randomized (325 intervention, 161 control). Infants in the intervention arm were estimated to have 4.81 (95% CI 3.65-6.32) times the parent attendance rate of infants in the control arm (unadjusted incidence rate ratio: 4.62 [95% CI 3.40-6.28]). The intervention arm had 0.37 (95% CI 0.18-0.75) times the adjusted odds of a 30-day emergency department revisit compared with the control arm (unadjusted odds ratio: 0.48 [95% CI 0.25-0.91]). No statistically significant positive intervention effects were observed for other secondary outcomes.CONCLUSIONSOffering virtual FCR increased parent attendance and reduced 30-day emergency department revisits among NICU infants.
背景与目的利用远程医疗将家庭成员虚拟带到床边进行以家庭为中心的查房(FCR)是增加家庭成员访问的一种有前途的策略。我们的目的是评估在新生儿重症监护病房(NICU)为家庭提供虚拟FCR的选择对父母和新生儿结局的影响。方法该双组随机对照试验将住院婴儿家庭分为虚拟FCR(干预)和常规护理(对照组)两组。干预家庭也可以亲自参加FCR(常规护理)。所有在研究期间入住单点新生儿重症监护病房的符合条件的婴儿家庭均被纳入研究。结果包括FCR出席率、父母经验、以家庭为中心的护理、父母激活、父母健康相关生活质量、住院时间、母乳喂养和新生儿生长。结果从2023年3月至2024年3月,共纳入486个家庭,其中干预325个,对照组161个。据估计,干预组婴儿的父母出勤率是对照组婴儿的4.81倍(95% CI 3.65-6.32)(未调整的发病率比:4.62 [95% CI 3.40-6.28])。与对照组相比,干预组30天急诊重访的调整后几率为0.37倍(95% CI 0.18-0.75)(未调整的优势比:0.48 [95% CI 0.25-0.91])。其他次要结果未观察到统计学上显著的积极干预效果。结论虚拟FCR提高了新生儿重症监护病房患儿的家长出勤率,减少了患儿30天急诊科就诊次数。
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引用次数: 0
Fortify Alabama: Corn Masa Fortification for Spina Bifida Prevention. 强化阿拉巴马:玉米玛莎强化脊柱裂预防。
IF 8 2区 医学 Q1 PEDIATRICS Pub Date : 2026-01-23 DOI: 10.1542/peds.2025-073306
Michael J Feldman,William J Hereford,Regan Gaskin,Garrett W Thrash,Honour M Hill,Sana Jaffery,Betsy Hopson,Brandon G Rocque,Anastasia Arynchyna-Smith,Jeffrey P Blount
Neural tube defects (NTDs), such as myelomeningocele, are serious birth defects preventable with adequate maternal folate intake. In the United States, Hispanic populations have disproportionately high NTD rates. Mandatory fortification of enriched cereal grains in the 1990s significantly reduced NTDs but excluded corn masa flour (CMF), a staple in many Hispanic diets. This shortcoming may contribute to persistent disparities in NTD rates. We pursued a state legislative mandate for folic acid fortification of CMF to reduce NTDs. We also developed a legislative model that can be replicated nationwide to encourage broader fortification of CMF. A task force engaged the Hispanic community through bilingual outreach to understand dietary habits and the role of CMF to optimize the impact and cultural utility of resulting legislation. Based on these conversations, legislation was drafted with consultation from fortification experts ensuring scientific and policy viability. A legislative sponsor was secured through targeted engagement and lobbying. In June 2025, HB384 was signed into law by the governor of Alabama, mandating folic acid fortification of CMF and tortilla products. Opposition cited concerns about genetic variation in folic acid metabolism, prenatal care access, and governmental overreach. Alabama's legislative success demonstrates a model for addressing sources of disparity in health care access and outcomes. Additional states replicating this approach may promote national CMF fortification policy or incentivize industry adoption of CMF fortification, potentially preventing up to 120 NTD cases per year in the Hispanic community, saving up to $100 million in annual health care spending.
神经管缺陷(NTDs),如脊髓脊膜膨出,是一种严重的出生缺陷,可以通过母体摄入足够的叶酸来预防。在美国,西班牙裔人口的NTD发病率高得不成比例。20世纪90年代,强制强化强化谷物显著减少了ntd,但不包括玉米玛莎面粉(CMF),这是许多西班牙人饮食中的主食。这一缺陷可能导致新结核传染率的持续差异。我们寻求国家立法授权强化叶酸的CMF,以减少NTDs。我们还制定了一个可以在全国范围内复制的立法模式,以鼓励更广泛地加强CMF。一个特别工作组通过双语外联与西班牙裔社区接触,了解饮食习惯和CMF的作用,以优化所产生的立法的影响和文化效用。在这些对话的基础上,在与强化专家协商的情况下起草了立法,以确保科学和政策的可行性。通过有针对性的参与和游说,获得了立法发起人。2025年6月,阿拉巴马州州长将HB384签署为法律,强制要求在CMF和玉米饼产品中添加叶酸。反对的理由是担心叶酸代谢的遗传变异、产前护理的可及性和政府的过度干预。阿拉巴马州的立法成功展示了一个解决医疗保健机会和结果差异根源的模式。其他复制这一方法的州可能会促进国家CMF强化政策或激励行业采用CMF强化,可能在西班牙裔社区每年预防多达120例新结核样结核病例,每年节省高达1亿美元的医疗保健支出。
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引用次数: 0
Sleep-Disordered Breathing in Newborns After Myelomeningocele Repair. 脊髓脊膜膨出修复后新生儿睡眠呼吸障碍。
IF 8 2区 医学 Q1 PEDIATRICS Pub Date : 2026-01-23 DOI: 10.1542/peds.2025-073458
Renée A Shellhaas,Fauziya Hassan,Thornton A Mason,Jagruti Anadkat,Ellen Bendel-Stenzel,Stephanie Eyerly-Webb,Cindy K Jon,Robin M Lloyd,Julie S Moldenhauer,Ramesha Papanna,John E Pascoe,Stefanie Riddle,Regina Reynolds,Brandon G Rocque,Narong Simakajornboon,Marjorie C Treadwell,R Bradley Troxler,Lydia S Youmans,Niko A Kaciroti,Harlan McCaffery,Hemant A Parmar,Lora Merley,Stephanie Md Rau,Ronald D Chervin,John D E Barks
BACKGROUND & OBJECTIVESleep-disordered breathing (SDB) may be a remediable contributor to abnormal cognitive outcomes for children with myelomeningocele. We investigated the frequency of SDB among neonates with fetal vs postnatal myelomeningocele repair.METHODSIn this nine-center, prospective, observational study, neonates with myelomeningocele born at more than 30 weeks gestational age underwent a 10-hour bedside polysomnogram at at least 35 weeks postmenstrual age, before hospital discharge. The primary outcome was SDB severity, reflected by the apnea-hypopnea index (AHI; number of respiratory events per hour of sleep). Decisions regarding surgical timing (fetal vs postnatal), technique (open fetal vs fetoscopic approach), and SDB treatment were made by the clinical teams.RESULTSAmong 173 infants, 92/173 (53%) had SDB (median AHI 22.5, IQR 12.2-44.2). In unadjusted analysis, AHI was higher among the 90 neonates with fetal repair vs 83 with postnatal surgery (median 29, IQR 14-49, vs 19, IQR 10-36, P = .008). In propensity-adjusted multivariable models, prematurity was independently associated with AHI, whereas surgical timing (fetal vs postnatal) was not. Hindbrain herniation, myelomeningocele level, and clinical need for ventriculoperitoneal shunt did not predict AHI in adjusted models. Supplemental oxygen was commonly prescribed, for 44% of fetal vs 39% of postnatal myelomeningocele repair infants (P = .5).CONCLUSIONSSDB affects more than half of neonates with myelomeningocele. The higher AHI after fetal surgery could stem from the elevated incidence of prematurity in this group. As SDB is treatable and has a potential impact on neurodevelopment, routine screening could become an integral part of a strategy to optimize long-term medical and neurodevelopmental outcomes.
背景与目的:睡眠呼吸障碍(SDB)可能是脊髓脊膜膨出儿童认知结果异常的可补救因素。我们调查了脊髓脊膜膨出修复的新生儿中发生SDB的频率。方法:在这项9个中心的前瞻性观察性研究中,出生在孕周超过30周的脊髓脊膜膨出新生儿在月经后至少35周出院前接受了10小时床边多导睡眠图检查。主要结局是SDB严重程度,由呼吸暂停低通气指数(AHI,每小时睡眠呼吸事件数)反映。关于手术时机(胎儿vs产后)、技术(开放胎儿vs胎儿镜)和SDB治疗的决定由临床团队做出。结果173例患儿中,92/173例(53%)患有SDB (AHI中位数22.5,IQR中位数12.2-44.2)。在未经校正的分析中,90例胎儿修复新生儿的AHI高于83例产后手术新生儿(中位数29,IQR 14-49,对19,IQR 10-36, P = 0.008)。在倾向调整的多变量模型中,早产与AHI独立相关,而手术时机(胎儿vs产后)与AHI无关。在调整后的模型中,后脑疝、脊髓脊膜膨出水平和脑室-腹膜分流术的临床需要不能预测AHI。44%的胎儿和39%的产后脊髓脊膜膨出修复婴儿(P = 0.5)通常需要补充氧气。结论ssdb影响超过一半的新生儿脊髓脊膜膨出。胎儿手术后较高的AHI可能源于该组早产儿的发生率升高。由于SDB是可治疗的,并且对神经发育有潜在影响,因此常规筛查可以成为优化长期医疗和神经发育结果的策略的组成部分。
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引用次数: 0
Milk as a Transmission Vehicle for Highly Pathogenic Avian Influenza A (H5N1). 牛奶作为高致病性甲型禽流感(H5N1)的传播媒介。
IF 8 2区 医学 Q1 PEDIATRICS Pub Date : 2026-01-22 DOI: 10.1542/peds.2025-072525
Carrie L Byington,Lisa Stellwagen,Lars Bode,Mitra Hooshmand,Donald P Pizzo,Hana Russo,Steven L Gonias
Highly pathogenic avian influenza A (H5N1) (H5N1 hereafter) is an emerging pathogen in mammals. The recent recognition of H5N1 in dairy cattle increases opportunities for human exposure and infection and may accelerate a trajectory toward sustained human-to-human transmission. Furthermore, the presence of virus at high concentration in unpasteurized milk raises new risks for humans, especially infants and children. Milk has been identified as a vehicle for viral transmission in and between mammalian species, including humans. Sialic acids (SAs) found on cell surfaces are important mediators of species susceptibility to specific influenza strains and play an important role in viral tropism. New data demonstrate that SA receptors with α2,3 linkages capable of binding avian influenza strains are present in human mammary tissue. The presence of SA receptors that can bind avian influenza and a comparative analysis of viral transmission risk of raw and pasteurized milk in several mammalian species have implications for human milk feeding. During this period of sporadic human infections with H5N1, further research and collaboration is warranted to address the potential risk of human milk contamination. Infants and children are particularly vulnerable to emerging infections during pandemics and have unique needs that may be overlooked. Pandemic preparedness must address the needs of all populations at all life stages, including pregnancy and infancy, and must include support for the safety of human milk.
高致病性甲型H5N1禽流感(以下简称H5N1)是一种新兴的哺乳动物病原体。最近在奶牛中发现H5N1增加了人类接触和感染的机会,并可能加速走向持续的人际传播。此外,未经巴氏消毒的牛奶中高浓度病毒的存在给人类,特别是婴儿和儿童带来了新的风险。牛奶已被确定为包括人类在内的哺乳动物物种内部和物种之间病毒传播的载体。在细胞表面发现的唾液酸(SAs)是物种对特定流感毒株易感性的重要介质,在病毒趋向性中起重要作用。新的数据表明,具有α2,3键的SA受体能够与禽流感毒株结合,存在于人乳腺组织中。可以结合禽流感的SA受体的存在,以及对几种哺乳动物的生奶和巴氏奶的病毒传播风险的比较分析,对人类母乳喂养具有启示意义。在这一散发人感染H5N1病毒的时期,有必要进一步开展研究和合作,以应对人乳污染的潜在风险。婴儿和儿童在大流行期间特别容易受到新出现的感染,他们有可能被忽视的独特需求。大流行防范工作必须满足所有人群在所有生命阶段(包括怀孕和婴儿期)的需求,并必须包括对母乳安全的支持。
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引用次数: 0
Mindfulness-Based Interventions for Adolescent Substance Use and Substance Use Disorders: A Systematic Review. 青少年物质使用和物质使用障碍的正念干预:系统综述。
IF 8 2区 医学 Q1 PEDIATRICS Pub Date : 2026-01-22 DOI: 10.1542/peds.2025-070779
Christopher J Hammond,Lindsey Webb,Chae Young Lee,Ayisat Adegbindin,Grace Park,Rachael Lebo,Julie Nanavati,Erica Sibinga
CONTEXTGiven the large treatment gap and modest response to contemporary drug treatment approaches for adolescents, interest in mindfulness-based interventions (MBI) for this population is growing.OBJECTIVETo systematically review the extant literature on the efficacy of MBIs in reducing alcohol/drug use and improving psychological functioning in youth who use substances (YWUS) using PRISMA guidelines.DATA SOURCESPubMed, EMBASE, Cochrane Library, PsycINFO, and Web of Science.STUDY SELECTIONSelected studies used randomized controlled trial (RCT) designs to compare the efficacy of an MBI to a comparator intervention on substance-related outcomes in samples of YWUS (12-21 years).DATA EXTRACTIONExtracted data included design features, sample characteristics, outcome variables, source measures, and characteristics of MBI and control conditions.RESULTSAfter reviewing 2090 citations, we identified 23 eligible studies reporting results from 21 trials with 2297 participants. There was a high degree of heterogeneity across designs, analytic approaches, MBI types, and populations studied. Over two-thirds of studies reported positive results favoring MBI over comparator conditions for postintervention substance use reductions and pooled substance use outcomes. Subgroup results provided preliminary evidence that MBI may reduce impulsivity and alter responses to stress and craving, and that these changes may mediate the relationship between MBI receipt and substance outcomes in YWUS.LIMITATIONSFew studies examined intervention impacts on illicit substances, and heterogeneity of interventions and outcomes limited the ability to generalize findings.CONCLUSIONSOur results indicate that MBIs can produce small to moderate reductions in alcohol/drug use and may improve impulsivity and stress reactivity in YWUS.
背景考虑到青少年的治疗差距很大,对当代药物治疗方法的反应不大,对这一人群的正念干预(MBI)的兴趣正在增长。目的采用PRISMA指南系统回顾mbi在减少青少年酒精/药物使用和改善青少年心理功能方面的有效性。数据来源pubmed, EMBASE, Cochrane Library, PsycINFO, Web of Science。研究选择选定的研究使用随机对照试验(RCT)设计来比较MBI和比较物干预对YWUS样本(12-21岁)物质相关结局的疗效。数据提取提取的数据包括设计特征、样本特征、结果变量、源测量、MBI特征和控制条件。在回顾了2090篇引用后,我们确定了23篇符合条件的研究,报告了21项试验的结果,共有2297名受试者。在设计、分析方法、MBI类型和研究人群之间存在高度异质性。超过三分之二的研究报告了在干预后物质使用减少和综合物质使用结果方面,MBI优于比较条件的积极结果。亚组结果提供了初步证据,表明MBI可以减少冲动性,改变对压力和渴望的反应,这些变化可能介导了YWUS中MBI接收和物质结果之间的关系。局限性:很少有研究检查干预对非法药物的影响,干预措施和结果的异质性限制了推广研究结果的能力。结论mbi可减少酒精/药物使用,并可改善YWUS患者的冲动性和应激反应性。
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引用次数: 0
Primary Salmonella Osteomyelitis of the Sternum. 原发性沙门氏菌性胸骨骨髓炎。
IF 8 2区 医学 Q1 PEDIATRICS Pub Date : 2026-01-22 DOI: 10.1542/peds.2025-073145
Aaron Kleinertz,Tracy Geoffrion
Osteomyelitis is a rarely encountered diagnosis in children. It typically occurs due to hematogenous inoculation following transient bacteremia, with bacterial infection ultimately establishing in areas of microtrauma. Prevalence is highest in long bones due to active marrow, and the most common organism isolated from affected tissue is Staphylococcus aureus. Patients with hemoglobinopathies, however, are more susceptible to unusual pathogens, particularly Salmonella species. This report summarizes the successful management of a unique presentation of primary Salmonella osteomyelitis of the sternum in a patient heterozygous for the hemoglobin E trait and opens the discussion for a potential biological basis of disease.
骨髓炎是一种罕见的儿童诊断。它通常是由于短暂菌血症后的血液接种,细菌感染最终在微创伤区域建立。由于骨髓活跃,在长骨中患病率最高,从受感染组织中分离出的最常见的生物是金黄色葡萄球菌。然而,患有血红蛋白病的患者更容易感染不寻常的病原体,特别是沙门氏菌。本报告总结了一例独特的原发性沙门氏菌性胸骨骨髓炎的成功治疗,该患者为血红蛋白E性状杂合,并开启了对疾病潜在生物学基础的讨论。
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引用次数: 0
Standardizing Reporting of Pediatric Assent in Clinical Trials. 规范临床试验儿科同意报告。
IF 8 2区 医学 Q1 PEDIATRICS Pub Date : 2026-01-21 DOI: 10.1542/peds.2025-073229
Shizuko Takahashi,Jerry Menikoff
Despite longstanding ethical consensus on the importance of pediatric assent, documentation of how assent is obtained, waived, or overridden remains sparse and inconsistent in clinical research. This article examines the systemic underreporting of assent practices in pediatric trials, drawing on a review of trial registries, informed consent forms, and published studies in pediatric oncology. Our findings reveal that assent is often embedded within parental consent processes, rarely documented in detail, and inconsistently interpreted across studies. Without minimal reporting standards, it is impossible to evaluate whether children were informed, involved in decisions, or given opportunities to dissent. This lack of transparency compromises ethical accountability and prevents researchers, ethics committees, and policymakers from learning from prior practice. Drawing on international examples, we propose a practical recommendation for change: that trial registries and journals adopt minimal reporting requirements to include who assented, whether disagreement occurred, and how it was addressed. Better documentation-through standardized, developmentally appropriate practices-can help ensure that children's voices are respected and their participation in research is ethically sound. Importantly, documenting assent is not only relevant to research but also extends to pediatric clinical care, in which everyday care decisions offer opportunities to engage children, foster trust, and respect their voices.
尽管长期以来在儿科同意的重要性上达成了伦理共识,但在临床研究中,关于如何获得、放弃或推翻同意的文件仍然很少,而且不一致。本文通过对儿科肿瘤学试验注册、知情同意书和已发表研究的回顾,探讨了儿科试验中同意实践的系统性少报问题。我们的研究结果表明,同意通常嵌入在父母同意过程中,很少详细记录,并且在研究中解释不一致。如果没有最低限度的报告标准,就不可能评估儿童是否被告知情况、参与决策或获得表达异议的机会。这种透明度的缺乏损害了伦理问责制,阻碍了研究人员、伦理委员会和政策制定者从以往的实践中学习。根据国际上的例子,我们提出了一个切实可行的改变建议:试验注册中心和期刊采用最低限度的报告要求,包括谁同意,是否发生了分歧,以及如何解决分歧。通过标准化的、与发展相适应的做法,更好地记录有助于确保儿童的声音得到尊重,确保他们参与研究符合伦理道德。重要的是,记录同意不仅与研究相关,而且还延伸到儿科临床护理,在日常护理决策中,提供机会让儿童参与,培养信任,并尊重他们的声音。
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引用次数: 0
Etiology of Severe Microcephaly in Infants: A Multinational Surveillance Study. 婴儿严重小头畸形的病因学:一项多国监测研究。
IF 8 2区 医学 Q1 PEDIATRICS Pub Date : 2026-01-21 DOI: 10.1542/peds.2025-072700
Daniel S Farrar,Rachel L Knowles,Carlos Nunez,Gareth Baynam,Ari Bitnun,Mavis Duncanson,Richard M Lynn,Charlotte Moore Hepburn,Anne Morris,Clarissa Oeser,Richard Pebody,Ameenat Lola Solebo,Elizabeth J Elliott,Shaun K Morris
BACKGROUND AND OBJECTIVESSevere microcephaly, or head circumference at least 3 standard deviations below the mean for age and sex, is a rare condition with diverse etiology, making diagnosis challenging. Following the 2015 to 2016 Zika virus outbreak, surveillance studies in Australia, Canada, New Zealand, and the United Kingdom and Ireland were conducted to monitor severe microcephaly. We describe the etiology, clinical features, and diagnostic investigations of severe microcephaly among children aged younger than 1 year.METHODSWe pooled reports of patients with severe microcephaly detected through 4 national active surveillance studies, through the International Network of Paediatric Surveillance Units. Incident cases were reported voluntarily between June 2016 and October 2018 by networks of pediatricians totaling more than 8000 members. Etiology was categorized as genetic (confirmed/suspected), acquired (infection, ischemia/hypoxia, prenatal alcohol exposure, placental insufficiency), or unknown. Anonymized data were pooled and analyzed using descriptive statistics.RESULTSOverall, the cases of 118 patients with severe microcephaly were analyzed, including 59 from the United Kingdom and Ireland, 34 from Canada, and 25 from Australia (n < 5 cases from New Zealand were not analyzed). Median age at diagnosis was 17 days (IQR 1-119), and mean head circumference-for-age Z-score was -4.0 (SD 1.1). Genetic causes were determined for 50% (n = 59) vs 18% acquired (n = 21) and 32% unknown (n = 38). Common investigations included brain magnetic resonance imaging (70%), DNA microarray (69%), brain ultrasonography (53%), and cytomegalovirus screening (48%).CONCLUSIONSAt least one-half of severe microcephaly cases are attributable to genetic causes. One-third had unknown etiology, highlighting a need for a systematic approach to diagnostic investigation, including genomic sequencing and brain imaging for all children with severe microcephaly.
背景和目的严重小头畸形,或头围低于年龄和性别平均值至少3个标准差,是一种罕见的疾病,病因多样,使诊断具有挑战性。2015年至2016年寨卡病毒爆发后,在澳大利亚、加拿大、新西兰、英国和爱尔兰开展了监测研究,以监测严重的小头症。我们描述了1岁以下儿童严重小头畸形的病因、临床特征和诊断调查。方法:我们汇集了通过国际儿科监测单位网络进行的4项国家主动监测研究中发现的严重小头畸形患者的报告。2016年6月至2018年10月期间,共有8000多名儿科医生网络成员自愿报告了事件病例。病因分类为遗传(确诊/疑似)、获得性(感染、缺血/缺氧、产前酒精暴露、胎盘功能不全)或未知。匿名数据汇总并使用描述性统计进行分析。结果共分析了118例严重小头畸形患者,其中英国和爱尔兰59例,加拿大34例,澳大利亚25例(未分析新西兰< 5例)。诊断时的中位年龄为17天(IQR 1-119),平均头围年龄Z-score为-4.0 (SD 1.1)。遗传原因占50% (n = 59),后天原因占18% (n = 21),未知原因占32% (n = 38)。常见的检查包括脑磁共振成像(70%)、DNA微阵列(69%)、脑超声(53%)和巨细胞病毒筛查(48%)。结论至少一半的严重小头症病例可归因于遗传原因。三分之一的病因不明,这突出表明需要一种系统的诊断调查方法,包括对所有患有严重小头畸形的儿童进行基因组测序和脑成像。
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引用次数: 0
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Pediatrics
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