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Hospital-recorded chronic health conditions in children with and without Down syndrome in England: a national cohort of births from 2003 to 2019. 英格兰唐氏综合征患儿和非唐氏综合征患儿在医院记录的慢性健康状况:2003 年至 2019 年出生的全国队列。
IF 4.3 3区 医学 Q1 PEDIATRICS Pub Date : 2024-10-30 DOI: 10.1136/archdischild-2024-327532
Julia Shumway, Jill Ellis, Alice Stephens, Bianca Lucia De Stavola, Ruth Gilbert, Ania Zylbersztejn

Objective: The objective is to describe age-specific cumulative incidence for hospital-recorded indicators of chronic health conditions (CHCs) in children with Down syndrome (DS) compared with children without DS.

Design: National birth cohort using hospital admission and death records.

Setting: National Health Service (NHS)-funded hospitals in England.

Population: Liveborn, singleton infants born in NHS-funded hospitals between 2003 and 2019.

Main outcome measures: Cumulative incidence of nine categories of hospital-recorded CHCs, multimorbidity and mortality.

Results: We identified 10 621 infants with DS among 9 631 646 liveborn, singleton infants (0.11%). Among children with DS, the cumulative incidence for any indicated CHC was 90.1% by age 16, as compared with 21.2% of children without DS. By age 16, a third of children (33.1%) with DS had CHCs affecting four or more body systems; only 6.0% of children without DS had CHCs indicated in more than one body system. The most common CHCs in children with DS were severe congenital heart defects, indicated in 57.2% (0.8% in children without DS). The estimated HR for mortality up to age 16 comparing children with versus without DS was 15.26 (95% CI: 14.15, 16.45).

Conclusions: Children with DS had a higher cumulative incidence for CHCs in each body system category and subcategory, at all ages, than children without DS. Multimorbidity and mortality were higher among children with DS. Administrative data can be used to examine the health needs and healthcare use of children with DS throughout childhood and adolescence.

目的目的:与无唐氏综合症的儿童相比,描述唐氏综合症(DS)儿童慢性健康状况(CHC)的医院记录指标的特定年龄累积发病率:设计:全国出生队列,使用入院和死亡记录:研究对象:英国国民健康服务(NHS)资助的医院:主要结果测量:医院记录的九类CHC累积发病率、多病症和死亡率:在 9 631 646 名活产单胎婴儿中,我们发现了 10 621 名患有 DS 的婴儿(0.11%)。在患有 DS 的儿童中,到 16 岁时,任何指定 CHC 的累积发病率为 90.1%,而无 DS 儿童的发病率仅为 21.2%。到16岁时,三分之一的DS患儿(33.1%)的CHC影响到四个或四个以上的身体系统;只有6.0%的非DS患儿的CHC影响到一个以上的身体系统。DS患儿中最常见的CHC是严重先天性心脏缺陷,占57.2%(无DS患儿为0.8%)。有DS和没有DS的儿童在16岁前的估计死亡率为15.26(95% CI:14.15,16.45):结论:与无DS儿童相比,患有DS的儿童在所有年龄段的每个身体系统类别和亚类别中的CHC累积发病率都较高。DS 儿童的多病症发病率和死亡率均较高。管理数据可用于研究肢体残疾儿童在整个童年和青少年时期的健康需求和医疗保健使用情况。
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引用次数: 0
Case of sapphire eyes with hearing loss: Waardenburg syndrome type 1 in a young girl. 蓝宝石眼伴有听力损失的病例:年轻女孩的 1 型瓦登堡综合征
IF 4.3 3区 医学 Q1 PEDIATRICS Pub Date : 2024-10-30 DOI: 10.1136/archdischild-2024-327905
Vishal Gaurav, Gaby Lalmuanpuii, Pavani Gowda, Aditi Guglani
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引用次数: 0
Effectiveness of paediatric asthma hubs: a clinical pilot study. 儿科哮喘中心的有效性:一项临床试验研究。
IF 4.3 3区 医学 Q1 PEDIATRICS Pub Date : 2024-10-29 DOI: 10.1136/archdischild-2023-326635
Ali Hakizimana, David K H Lo, Damian Roland, Vinayak K Rai, Lesley Danvers, Rachel Rowlands, Molla Imaduddin Ahmed, Reeta Herzallah, Erol A Gaillard

Background: Children and young people (CYP) with asthma in the UK are at higher risk of poor outcomes compared with other high-income European countries due to factors including poor access to high-quality asthma reviews, diagnostic testing and inconsistent postattack reviews. The Leicester Integrated Care Board funded the first UK pilot asthma hub for CYP, to investigate the feasibility and effectiveness of hubs, in providing postattack reviews along with providing asthma education, the opportunity to carry out diagnostic lung function tests and optimise treatment.

Methods: Clinical pilot study including CYP aged 4-17 years referred to the hub with uncontrolled asthma or postattack from November 2021 to April 2022. CYP received a structured clinical assessment including National Institute for Health and Care Excellence (NICE) first-line diagnostic investigations for asthma including spirometry, bronchodilator reversibility (BDR) and fraction of exhaled nitric oxide (FeNO).

Results: Of 312 CYP referred (mean age 8.6±3.2 years; 42% women), 266 (85.3%) attended their appointment. Median time from referral to review was 2 days (IQR 1-3). Three CYP (1.1%) were severely unwell at review and required further hospital treatment. In the 231 CYP who completed first-line tests, asthma was confirmed for 73 (31.6%) based on NICE diagnostic criteria for CYP. Twenty-two per cent of children with normal baseline spirometry had ≥12% BDR.

Conclusion: Paediatric asthma hubs are a feasible model of care to deliver CYP postasthma attack reviews and identify high-risk patients requiring further treatment. Spirometry, BDR and FeNO testing allowed diagnostic confirmation in a significant proportion of CYP.

背景:与其他高收入欧洲国家相比,英国患有哮喘的儿童和青少年(CYP)的治疗效果不佳的风险较高,原因包括难以获得高质量的哮喘复查、诊断检测和不一致的发作后复查。莱斯特综合护理委员会资助了英国首个针对青少 年的哮喘中心试点项目,目的是研究中心在提供哮喘教育、诊断性肺功能测试和优化治疗的同时,提供哮喘发作后复查的可行性和有效性:临床试验研究包括 2021 年 11 月至 2022 年 4 月期间因哮喘未得到控制或哮喘发作后转诊至中心的 4-17 岁青少 年。青少 年接受结构化临床评估,包括国家健康与护理优化研究所(NICE)哮喘一线诊断检查,包括肺活量、支气管扩张剂可逆性(BDR)和呼出一氧化氮分数(FeNO):在转诊的 312 名 CYP 患者(平均年龄为 8.6±3.2 岁;42% 为女性)中,有 266 人(85.3%)赴约就诊。从转诊到复查的中位时间为 2 天(IQR 1-3)。有 3 名儿童青少年(1.1%)在复查时身体严重不适,需要进一步住院治疗。在完成一线检测的 231 名儿童青少年中,有 73 人(31.6%)根据 NICE 儿童青少年诊断标准确诊为哮喘。基线肺活量正常的儿童中有 22% 的 BDR ≥12%:儿童哮喘中心是一种可行的护理模式,可提供哮喘发作后复查,并识别需要进一步治疗的高风险患者。肺活量、BDR 和 FeNO 测试可对相当一部分 CYP 进行诊断确认。
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引用次数: 0
Predictive performance of cerebrospinal fluid parameters for diagnosis of meningitis in infants: a cohort study. 婴儿脑膜炎诊断中脑脊液参数的预测性能:一项队列研究。
IF 4.3 3区 医学 Q1 PEDIATRICS Pub Date : 2024-10-29 DOI: 10.1136/archdischild-2024-327628
Christine O'Leary, Laure F Pittet, Rachael Beaumont, Laura Constable, Andrew Daley, Isabelle Hodge, Susan E Jacobs, Arrabella King, Catherine Tan, Nigel Curtis, Amanda Gwee

Background: The gold standard for diagnosis of meningitis is the isolation of a pathogen from cerebrospinal fluid (CSF) by culture or PCR. However, treatment is routinely commenced based on CSF findings prior to microbiological results. This study determined the predictive value of CSF parameters for diagnosing bacterial and viral meningitis in young infants.

Methods: Multicentre retrospective (2010-2020) cohort study of 1088 CSF results from infants aged 0-90 days. The predictive value of CSF parameters (white blood cell count (WCC), neutrophil, protein, glucose) was evaluated in 538 meningitis cases (39 bacterial, 499 viral) compared with controls with negative CSF microbiological testing and no prior antibiotics.

Results: For bacterial meningitis, the sensitivity of the commonly used CSF WCC cut-off of 20×106/L for neonates, 15×106/L for infants 1-2 months old and 5×106/L for infants 2-3 months old was 89%, 91% and 86% and the specificity was 78%, 77% and 61%, respectively. CSF protein levels ≥1 g/L in neonates and ≥0.8 g/L in infants aged 1-3 month, or CSF neutrophils ≥2×106/L, independently increased the likelihood of bacterial meningitis (positive likelihood ratios ≥5 and ≥3, respectively). 3 of 39 cases of bacterial meningitis would have been missed using the commonly used WCC cut-offs alone. However, two would have been identified using CSF protein and neutrophil thresholds. All CSF parameters were poor at identifying viral meningitis.

Conclusion: A single CSF parameter cannot reliably diagnose bacterial meningitis. For identification of bacterial meningitis, elevation of CSF WCC, neutrophil count or protein levels above threshold values improves accuracy of diagnosis.

背景:脑膜炎诊断的金标准是通过培养或 PCR 从脑脊液(CSF)中分离出病原体。然而,在微生物学结果出来之前,人们通常会根据 CSF 结果开始治疗。本研究确定了脑脊液参数对诊断幼儿细菌性和病毒性脑膜炎的预测价值:多中心回顾性(2010-2020 年)队列研究,共收集了 1088 份 0-90 天婴儿的 CSF 结果。与 CSF 微生物检测阴性且未使用过抗生素的对照组相比,评估了 538 例脑膜炎病例(39 例细菌性,499 例病毒性)CSF 参数(白细胞计数 (WCC)、中性粒细胞、蛋白质、葡萄糖)的预测价值:对于细菌性脑膜炎,常用的 CSF WCC 临界值(新生儿 20×106/L、1-2 个月婴儿 15×106/L、2-3 个月婴儿 5×106/L)的敏感性分别为 89%、91% 和 86%,特异性分别为 78%、77% 和 61%。新生儿 CSF 蛋白水平≥1 g/L,1-3 个月婴儿 CSF 蛋白水平≥0.8 g/L,或 CSF 中性粒细胞≥2×106/L,均可独立增加细菌性脑膜炎的可能性(阳性似然比分别为≥5 和≥3)。如果仅使用常用的 WCC 临界值,39 例细菌性脑膜炎病例中有 3 例会被漏诊。但是,如果使用 CSF 蛋白和中性粒细胞阈值,则有两例可以被识别出来。所有 CSF 参数在鉴别病毒性脑膜炎方面均表现不佳:结论:单一的 CSF 参数不能可靠地诊断细菌性脑膜炎。要鉴别细菌性脑膜炎,CSF WCC、中性粒细胞计数或蛋白水平升高超过阈值可提高诊断的准确性。
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引用次数: 0
Should next-generation sequencing be considered as a first-line genetic investigation for children with early developmental impairment? 下一代测序是否应被视为早期发育障碍儿童的一线基因检测?
IF 4.3 3区 医学 Q1 PEDIATRICS Pub Date : 2024-10-29 DOI: 10.1136/archdischild-2024-327752
Frederica Sarantis, Aisosa Osas Guobadia, Marwa A Bebars, Rachana Varma, Jonathon A A Holland, Thiloka Ratnaike
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引用次数: 0
Systematic review of interventions to reduce hospital and emergency department stay in paediatric populations. 对减少儿科住院和急诊留院时间的干预措施进行系统回顾。
IF 4.3 3区 医学 Q1 PEDIATRICS Pub Date : 2024-10-24 DOI: 10.1136/archdischild-2024-327155
Smita Dick, Clare MacRae, Laura Colacino, Philip Wilson, Stephen W Turner

Introduction: This systemic review describes interventions designed to shorten length of stay (LOS) in hospital or the emergency department (ED).

Methods: Papers published from 2000 until February 2024 were sought in MEDLINE, EMBASE, PsycINFO, SCIE, Cochrane Library Database and DARE databases. Outcomes were LOS, readmissions and healthcare cost.

Results: Eighteen studies were eligible, including 10 randomised controlled trials and 8 non-randomised studies. Children were recruited from ED in seven studies and from the paediatric ward in 11 studies. Nine studies delivered outpatient parenteral antibiotic therapy (OPAT) to children and were associated with reduced LOS and cost but longer duration of antibiotic treatment. Seven studies described 'hospital at home' in children admitted with a range of conditions and some reported reduced readmissions and LOS in addition to reduced costs, compared with standard hospital care. Two studies provided care in a step-down facility and reported reduced readmissions and costs.

Conclusions: Many of the interventions identified were cost-effective but often led to a longer total period of care compared with inpatient care. Providing care outside of hospital is not associated with increased adverse outcomes compared with receiving care in hospital and brings benefit to the child's family.

Prospero registration number: CRD42023408663.

简介:本系统综述介绍了旨在缩短住院或急诊科(ED)住院时间的干预措施:本系统综述介绍了旨在缩短住院或急诊科(ED)住院时间(LOS)的干预措施:方法:在 MEDLINE、EMBASE、PsycINFO、SCIE、Cochrane Library Database 和 DARE 数据库中查找 2000 年至 2024 年 2 月期间发表的论文。研究结果包括住院时间、再住院率和医疗成本:符合条件的研究有 18 项,包括 10 项随机对照试验和 8 项非随机研究。7项研究从急诊室招募儿童,11项研究从儿科病房招募儿童。九项研究为儿童提供了门诊肠外抗生素治疗(OPAT),缩短了住院时间,降低了费用,但延长了抗生素治疗时间。七项研究描述了 "在家住院 "的情况,与标准医院护理相比,一些研究报告了再入院率和住院时间的缩短以及费用的降低。两项研究在降级设施中提供护理,并报告了再入院率和费用的降低:结论:所确定的许多干预措施都具有成本效益,但与住院治疗相比,往往需要更长的总治疗时间。与在医院接受治疗相比,在医院外提供治疗与不良后果的增加无关,而且会给儿童家庭带来益处:CRD42023408663。
{"title":"Systematic review of interventions to reduce hospital and emergency department stay in paediatric populations.","authors":"Smita Dick, Clare MacRae, Laura Colacino, Philip Wilson, Stephen W Turner","doi":"10.1136/archdischild-2024-327155","DOIUrl":"https://doi.org/10.1136/archdischild-2024-327155","url":null,"abstract":"<p><strong>Introduction: </strong>This systemic review describes interventions designed to shorten length of stay (LOS) in hospital or the emergency department (ED).</p><p><strong>Methods: </strong>Papers published from 2000 until February 2024 were sought in MEDLINE, EMBASE, PsycINFO, SCIE, Cochrane Library Database and DARE databases. Outcomes were LOS, readmissions and healthcare cost.</p><p><strong>Results: </strong>Eighteen studies were eligible, including 10 randomised controlled trials and 8 non-randomised studies. Children were recruited from ED in seven studies and from the paediatric ward in 11 studies. Nine studies delivered outpatient parenteral antibiotic therapy (OPAT) to children and were associated with reduced LOS and cost but longer duration of antibiotic treatment. Seven studies described 'hospital at home' in children admitted with a range of conditions and some reported reduced readmissions and LOS in addition to reduced costs, compared with standard hospital care. Two studies provided care in a step-down facility and reported reduced readmissions and costs.</p><p><strong>Conclusions: </strong>Many of the interventions identified were cost-effective but often led to a longer total period of care compared with inpatient care. Providing care outside of hospital is not associated with increased adverse outcomes compared with receiving care in hospital and brings benefit to the child's family.</p><p><strong>Prospero registration number: </strong>CRD42023408663.</p>","PeriodicalId":8150,"journal":{"name":"Archives of Disease in Childhood","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142493539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comparison of clinical presentation and management of children and adolescents with ARFID between paediatrics and child and adolescent psychiatry: a prospective surveillance study. 儿科与儿童和青少年精神病科对患有 ARFID 的儿童和青少年的临床表现和管理的比较:一项前瞻性监测研究。
IF 4.3 3区 医学 Q1 PEDIATRICS Pub Date : 2024-10-23 DOI: 10.1136/archdischild-2024-327032
Ellaha Haidar, Javier Sanchez-Cerezo, Josephine Neale, Nikita Julius, Richard M Lynn, Lee D Hudson, Dasha Nicholls

Objective: To compare the clinical presentations, management and outcomes of avoidant/restrictive food intake disorder (ARFID) across paediatric and child and adolescent (C&A) psychiatric settings.

Study design: Prospective surveillance study.

Methods: Data were collected during a 13-month prospective surveillance study of children and adolescents with ARFID in the UK and Republic of Ireland. Paediatricians reported cases via the British Paediatric Surveillance Unit and psychiatrists through the Child and Adolescent Psychiatry Surveillance System. A follow-up questionnaire was sent at 12 months after a case of ARFID was reported.

Results: 319 cases were included, 189 from paediatricians and 130 from C&A psychiatrists. Patients presenting to paediatricians were younger (9.8 years vs 13.7 years), more often male (62.4% vs 43.1%), and had more chronic symptoms (80.4% vs 67.0%), selective eating (63.7% vs 46.6%) and comorbid autism (67.6% vs 50.0%) than to psychiatrists. Psychiatrists saw patients with more fear of aversive consequences from eating (13.1% vs 3.2%), weight loss (76.7% vs 65.0%) and comorbid anxiety (78.2% vs 47.4%). Patients presenting to paediatricians more often received medical monitoring (74.6% vs 53.1%), dietetic advice (83.1% vs 70.0%) and nutritional supplements (49.2% vs 30.0%). At follow-up, both cohorts improved in nutritional status. However, the psychiatric cohort improved more regarding disordered eating behaviours.

Conclusions: The presentation and management of ARFID differs across clinical settings. Findings suggest the need to develop clinical pathways for ARFID assessment and management across paediatrics and mental health. Our findings highlight the potential benefits of psychiatric input for some patients with ARFID.

研究目的比较儿科和儿童及青少年(C&A)精神病院中回避/限制性食物摄入障碍(ARFID)的临床表现、管理和结果:研究设计:前瞻性监测研究:在对英国和爱尔兰共和国患有 ARFID 的儿童和青少年进行的一项为期 13 个月的前瞻性监测研究中收集了数据。儿科医生通过英国儿科监测单位(British Paediatric Surveillance Unit)报告病例,精神科医生通过儿童和青少年精神病监测系统(Child and Adolescent Psychiatry Surveillance System)报告病例。在报告 ARFID 病例 12 个月后,我们会发出一份随访问卷:结果:共纳入 319 例病例,其中 189 例来自儿科医生,130 例来自儿童和青少年精神病医生。儿科医生接诊的患者比精神科医生接诊的患者更年轻(9.8 岁对 13.7 岁),更多是男性(62.4% 对 43.1%),有更多慢性症状(80.4% 对 67.0%)、选择性进食(63.7% 对 46.6%)和合并自闭症(67.6% 对 50.0%)。精神科医生接诊的患者中,害怕进食带来厌恶后果(13.1% 对 3.2%)、体重减轻(76.7% 对 65.0%)和合并焦虑(78.2% 对 47.4%)的患者较多。向儿科医生求诊的患者更多接受医学监测(74.6% 对 53.1%)、饮食建议(83.1% 对 70.0%)和营养补充剂(49.2% 对 30.0%)。在随访中,两组患者的营养状况都有所改善。结论:ARFID患者的表现和治疗方法与精神疾病患者有很大不同:结论:在不同的临床环境中,ARFID 的表现和管理方式各不相同。研究结果表明,有必要制定儿科和精神卫生部门评估和管理 ARFID 的临床路径。我们的研究结果凸显了精神科投入对某些ARFID患者的潜在益处。
{"title":"Comparison of clinical presentation and management of children and adolescents with ARFID between paediatrics and child and adolescent psychiatry: a prospective surveillance study.","authors":"Ellaha Haidar, Javier Sanchez-Cerezo, Josephine Neale, Nikita Julius, Richard M Lynn, Lee D Hudson, Dasha Nicholls","doi":"10.1136/archdischild-2024-327032","DOIUrl":"10.1136/archdischild-2024-327032","url":null,"abstract":"<p><strong>Objective: </strong>To compare the clinical presentations, management and outcomes of avoidant/restrictive food intake disorder (ARFID) across paediatric and child and adolescent (C&A) psychiatric settings.</p><p><strong>Study design: </strong>Prospective surveillance study.</p><p><strong>Methods: </strong>Data were collected during a 13-month prospective surveillance study of children and adolescents with ARFID in the UK and Republic of Ireland. Paediatricians reported cases via the British Paediatric Surveillance Unit and psychiatrists through the Child and Adolescent Psychiatry Surveillance System. A follow-up questionnaire was sent at 12 months after a case of ARFID was reported.</p><p><strong>Results: </strong>319 cases were included, 189 from paediatricians and 130 from C&A psychiatrists. Patients presenting to paediatricians were younger (9.8 years vs 13.7 years), more often male (62.4% vs 43.1%), and had more chronic symptoms (80.4% vs 67.0%), selective eating (63.7% vs 46.6%) and comorbid autism (67.6% vs 50.0%) than to psychiatrists. Psychiatrists saw patients with more fear of aversive consequences from eating (13.1% vs 3.2%), weight loss (76.7% vs 65.0%) and comorbid anxiety (78.2% vs 47.4%). Patients presenting to paediatricians more often received medical monitoring (74.6% vs 53.1%), dietetic advice (83.1% vs 70.0%) and nutritional supplements (49.2% vs 30.0%). At follow-up, both cohorts improved in nutritional status. However, the psychiatric cohort improved more regarding disordered eating behaviours.</p><p><strong>Conclusions: </strong>The presentation and management of ARFID differs across clinical settings. Findings suggest the need to develop clinical pathways for ARFID assessment and management across paediatrics and mental health. Our findings highlight the potential benefits of psychiatric input for some patients with ARFID.</p>","PeriodicalId":8150,"journal":{"name":"Archives of Disease in Childhood","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2024-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142456696","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Design and evaluation of a visual genomic explainer: a mixed-methods study. 可视化基因组解释器的设计与评估:一项混合方法研究。
IF 4.3 3区 医学 Q1 PEDIATRICS Pub Date : 2024-10-23 DOI: 10.1136/archdischild-2024-327650
Grainne Butler, Camilla Andersen, Jim Buttery, Asheeta Gupta, Melissa M Martyn, Zornitza Stark, Ella Wilkins, Kushani Jayasinghe, Catherine Quinlan

Objective: To design and assess a visual genomic explainer focusing on plain language and engaging imagery. The explainer aimed to support doctors' comprehension of complex genomic concepts and results and act as a resource promoting the integration of genomic testing into mainstream care.

Design: Prospective genomic resource development and questionnaire.

Setting: Regional and tertiary hospitals in Australia and Ireland, private and community-based clinicians in Australia.

Participants: Recruitment of paediatricians and nephrologists in Australia and paediatricians in Ireland was multi-faceted. Emails with survey links were circulated through training bodies, advanced trainee networks, departmental heads, and professional societies.

Main outcome measures: Comprehension, engagement and perception of the visual explainer.

Results: Most clinicians surveyed (95% (53) Australian group, 100% (29) Irish group) felt that genomics would be a useful tool in their practice. 77% of Australian paediatric respondents and 73% of Irish paediatric respondents felt that genomics was underutilised. Challenges encountered with genomic testing included poor patient comprehension of the testing process and results along with difficulties perceived by clinicians in explaining complex results. 89% of Australian paediatricians and 100% of Irish paediatricians surveyed would recommend the use of the explainer to other professionals in their field.

Conclusion: This genomic resource was acceptable to clinicians and could be a useful tool to support paediatricians integrating genomic testing into mainstream care.

目的设计并评估一个可视化基因组解释器,重点是使用通俗易懂的语言和引人入胜的图像。解释器旨在帮助医生理解复杂的基因组概念和结果,并作为一种资源,促进将基因组检测纳入主流医疗:设计:前瞻性基因组资源开发和问卷调查:环境:澳大利亚和爱尔兰的地区医院和三级医院,澳大利亚的私人和社区临床医生:澳大利亚的儿科医生和肾病学家以及爱尔兰的儿科医生的招募是多方面的。带有调查链接的电子邮件通过培训机构、进修生网络、科室主任和专业协会分发:主要结果测量指标:对视觉讲解器的理解、参与度和感知:大多数接受调查的临床医生(95%(53 名)澳大利亚人,100%(29 名)爱尔兰人)认为基因组学将成为他们实践中的有用工具。77%的澳大利亚儿科受访者和73%的爱尔兰儿科受访者认为基因组学未得到充分利用。基因组检测遇到的挑战包括病人对检测过程和结果理解不透,以及临床医生在解释复杂结果时遇到困难。89%的受访澳大利亚儿科医生和100%的受访爱尔兰儿科医生会向其领域的其他专业人员推荐使用解释器:临床医生可以接受这种基因组资源,它可以成为支持儿科医生将基因组检测纳入主流医疗的有用工具。
{"title":"Design and evaluation of a visual genomic explainer: a mixed-methods study.","authors":"Grainne Butler, Camilla Andersen, Jim Buttery, Asheeta Gupta, Melissa M Martyn, Zornitza Stark, Ella Wilkins, Kushani Jayasinghe, Catherine Quinlan","doi":"10.1136/archdischild-2024-327650","DOIUrl":"https://doi.org/10.1136/archdischild-2024-327650","url":null,"abstract":"<p><strong>Objective: </strong>To design and assess a visual genomic explainer focusing on plain language and engaging imagery. The explainer aimed to support doctors' comprehension of complex genomic concepts and results and act as a resource promoting the integration of genomic testing into mainstream care.</p><p><strong>Design: </strong>Prospective genomic resource development and questionnaire.</p><p><strong>Setting: </strong>Regional and tertiary hospitals in Australia and Ireland, private and community-based clinicians in Australia.</p><p><strong>Participants: </strong>Recruitment of paediatricians and nephrologists in Australia and paediatricians in Ireland was multi-faceted. Emails with survey links were circulated through training bodies, advanced trainee networks, departmental heads, and professional societies.</p><p><strong>Main outcome measures: </strong>Comprehension, engagement and perception of the visual explainer.</p><p><strong>Results: </strong>Most clinicians surveyed (95% (53) Australian group, 100% (29) Irish group) felt that genomics would be a useful tool in their practice. 77% of Australian paediatric respondents and 73% of Irish paediatric respondents felt that genomics was underutilised. Challenges encountered with genomic testing included poor patient comprehension of the testing process and results along with difficulties perceived by clinicians in explaining complex results. 89% of Australian paediatricians and 100% of Irish paediatricians surveyed would recommend the use of the explainer to other professionals in their field.</p><p><strong>Conclusion: </strong>This genomic resource was acceptable to clinicians and could be a useful tool to support paediatricians integrating genomic testing into mainstream care.</p>","PeriodicalId":8150,"journal":{"name":"Archives of Disease in Childhood","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2024-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142493538","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
COVID-19 vaccine effectiveness and uptake in a national cohort of English children and young people with life-limiting neurodisability. COVID-19 疫苗在英国全国限制性神经残疾儿童和青少年中的有效性和使用率。
IF 4.3 3区 医学 Q1 PEDIATRICS Pub Date : 2024-10-21 DOI: 10.1136/archdischild-2024-327293
Joana Cruz, Rachel Harwood, Simon Kenny, Matthew Clark, Peter J Davis, Elizabeth S Draper, Dougal Hargreaves, Shamez N Ladhani, Karen Luyt, Stephen W Turner, Elizabeth Whittaker, Pia Hardelid, Lorna K Fraser, Russell M Viner, Joseph Lloyd Ward

Objective: To investigate SARS-CoV-2 vaccine uptake and effectiveness in children and young people (CYP) with life-limiting neurodisability.

Design: We undertook a retrospective cohort study using national hospital data in England from 21 December 2020 to 2 September 2022 to describe SARS-CoV-2 vaccination uptake, and then examined COVID-19 hospitalisation, paediatric intensive care unit (PICU) admission and death following SARS-CoV-2 infection by vaccination status using Cox regression models.

Patients: CYP aged 5-17 with life-limiting neurodisability.

Results: We identified 38 067 CYP with life-limiting neurodisability; 13 311 (35.0%) received at least one SARS-CoV-2 vaccine, with uptake higher among older, white CYP, from less deprived neighbourhoods. Of 8134 CYP followed up after a positive SARS-CoV-2 test, 1547 (19%) were vaccinated. Within 28 days of infection, 309 (4.7%) unvaccinated CYP were hospitalised with COVID-19 compared with 75 (4.8%) vaccinated CYP. 46 (0.7%) unvaccinated CYP were admitted to PICU compared with 10 (0.6%) vaccinated CYP. 20 CYP died within 28 days of SARS-CoV-2 infection, of which 13 were unvaccinated. Overall, adjusted hazard of hospitalisation for COVID-19 or admission to PICU did not vary by vaccination status. When the Alpha-Delta SARS-CoV-2 variants were dominant, hazard of hospitalisation with COVID-19 was significantly lower among vaccinated CYP (HR 0.26 (0.09 to 0.74)), with no difference seen during Omicron (HR 1.16 (0.74 to 1.81)).

Conclusions: SARS-CoV-2 vaccination was protective of COVID-19 hospitalisation among CYP with life-limiting neurodisability during Alpha-Delta, but not for other SARS-CoV-2 variants. Vaccine uptake was low and varied by ethnicity and deprivation.

目的调查患有局限性神经残疾的儿童和青少年(CYP)接种SARS-CoV-2疫苗的情况和效果:我们利用 2020 年 12 月 21 日至 2022 年 9 月 2 日期间英格兰全国医院的数据开展了一项回顾性队列研究,以了解 SARS-CoV-2 疫苗的接种情况,然后利用 Cox 回归模型研究了 SARS-CoV-2 感染后的 COVID-19 住院、儿科重症监护室 (PICU) 入院和死亡情况:患者:5-17 岁患有限制性神经残疾的青壮年:我们确定了 38 067 名患有限制性神经残疾的青壮年;其中 13 311 人(35.0%)至少接种过一次 SARS-CoV-2 疫苗,年龄较大、来自贫困地区的白人青壮年接种率较高。在 8134 名经 SARS-CoV-2 检测呈阳性后接受跟踪调查的社区青年中,有 1547 人(19%)接种了疫苗。在感染后 28 天内,309 名(4.7%)未接种疫苗的青壮年因 COVID-19 住院,而 75 名(4.8%)已接种疫苗的青壮年因 COVID-19 住院。46名(0.7%)未接种疫苗的青少 年住进了重症监护病房,而 10 名(0.6%)接种疫苗的青少 年住进了重症监护病房。20 名儿童在感染 SARS-CoV-2 后 28 天内死亡,其中 13 人未接种疫苗。总体而言,因 COVID-19 而住院或入住 PICU 的调整后风险并不因疫苗接种情况而异。当阿尔法-德尔塔SARS-CoV-2变异体占优势时,接种过疫苗的CYP感染COVID-19的住院风险明显降低(HR 0.26(0.09至0.74)),而在Omicron期间则无差异(HR 1.16(0.74至1.81)):结论:接种SARS-CoV-2疫苗可预防COVID-19在Alpha-Delta期间对患有终生神经残疾的青壮年患者造成的住院,但对其他SARS-CoV-2变种没有保护作用。疫苗接种率较低,且因种族和贫困程度而异。
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引用次数: 0
Natural history of otitis media with effusion without hearing loss in children under 12 years: a systematic review. 12 岁以下儿童中耳炎伴流脓且无听力损失的自然病史:系统综述。
IF 4.3 3区 医学 Q1 PEDIATRICS Pub Date : 2024-10-21 DOI: 10.1136/archdischild-2024-327464
Aye Paing, Laura Elliff-O'Shea, Tamsin Holland Brown, Stephanie Arnold, John Day, Jennifer Royds, Veronica Kennedy

Objective: This study aimed to evaluate the natural history of otitis media with effusion (OME) without hearing loss in children under 12 years.

Methods: We performed a systematic search in Embase, CINAHL, MEDLINE, INAHTA database, CENTRAL, CDSR, Epistemonikos and PsycINFO to identify observational single group studies and comparative studies with untreated control arms published in English up to June 2022, reporting natural history of OME without hearing loss. The JBI (Joanna Briggs Institute) checklist and Grading of Recommendations Assessment, Development and Evaluation (GRADE) methodology were used to assess risk of bias and overall quality of evidence, respectively.

Results: Nineteen studies with samples ranging from 16 to 816 children met the inclusion criteria. The quality of evidence ranged from low to very low. Resolution of current episode of OME without hearing loss was 10-66% by 1 month, 3-93% by 3 months, 10-98% by 6 months, 20-92% by 9 months and 78-99% by 12 months, depending on populations and how resolution was defined across studies. Resolution of OME (defined as change from type B to non-B tympanogram) was only 10% by 6 months in Aboriginal infants. Recurrence of OME was 7% by 3 months, 8-18% by 6 months, 10-28% by 9 months and 8-35% by 12 months.

Conclusions: There was a trend towards greater resolution of OME without hearing loss and recurrence of OME over longer follow-up periods; however, they did not seem to follow a linear pattern, potentially due to differences in populations and definitions of resolution across studies.

研究目的本研究旨在评估 12 岁以下儿童无听力损失的中耳炎伴流脓(OME)的自然病史:我们在Embase、CINAHL、MEDLINE、INAHTA数据库、CENTRAL、CDSR、Epistemonikos和PsycINFO中进行了系统检索,以确定截至2022年6月用英语发表的、报告无听力损失的中耳炎自然病史的单组观察性研究和带未治疗对照组的比较性研究。采用JBI(乔安娜-布里格斯研究所)核对表和建议评估、发展和评价分级(GRADE)方法分别评估偏倚风险和证据的总体质量:有 19 项研究符合纳入标准,研究样本从 16 到 816 名儿童不等。证据质量从低到极低不等。无听力损失的OME在1个月内的缓解率为10%-66%,3个月内为3%-93%,6个月内为10%-98%,9个月内为20%-92%,12个月内为78%-99%,这取决于研究的人群和缓解率的定义。在土著婴儿中,鼓室积液(定义为鼓室图从B型变为非B型)在6个月前的缓解率仅为10%。3个月时,OME复发率为7%,6个月时为8-18%,9个月时为10-28%,12个月时为8-35%:结论:随着随访时间的延长,无听力损失的OME和OME复发率呈上升趋势;但是,它们似乎并不遵循线性模式,这可能是由于不同研究的人群和对OME复发率的定义不同造成的。
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Archives of Disease in Childhood
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