Lancet Child & Adolescent Health最新文献

{"title":"Comparison of clinical selection-based genetic testing with phenotype-agnostic extensive germline sequencing to diagnose genetic predisposition in children with cancer: a prospective diagnostic study","authors":"Jette J Bakhuizen MD ,&nbsp;Freerk van Dijk MSc ,&nbsp;Marco J Koudijs PhD ,&nbsp;Reno S Bladergroen BSc ,&nbsp;Sebastian B B Bon MD ,&nbsp;Saskia M J Hopman PhD ,&nbsp;Lennart A Kester PhD ,&nbsp;Mariëtte E G Kranendonk PhD ,&nbsp;Jan L C Loeffen PhD ,&nbsp;Stephanie E Smetsers PhD ,&nbsp;Edwin Sonneveld PhD ,&nbsp;Melissa Tachdjian BA ,&nbsp;Evelien de Vos-Kerkhof PhD ,&nbsp;Catherine Goudie MD ,&nbsp;Prof Johannes H M Merks PhD ,&nbsp;Prof Roland P Kuiper PhD ,&nbsp;Marjolijn C J Jongmans PhD","doi":"10.1016/S2352-4642(24)00144-5","DOIUrl":"10.1016/S2352-4642(24)00144-5","url":null,"abstract":"<div><h3>Background</h3><p>Germline data have become widely available in paediatric oncology since the introduction of paired tumour-germline sequencing. To guide best practice in cancer predisposition syndrome (CPS) diagnostics, we aimed to assess the diagnostic yield of extensive germline analysis compared with clinical selection-based genetic testing among all children with cancer.</p></div><div><h3>Methods</h3><p>In this prospective diagnostic study, all children (aged 0–19 years) with newly diagnosed neoplasms treated in the Netherlands national centre, the Princess Máxima Center for Pediatric Oncology (Utrecht, Netherlands), between June 1, 2020, and July 31, 2022, were offered two approaches to identify CPSs. In a phenotype-driven approach, paediatric oncologists used the McGill Interactive Pediatric OncoGenetic Guidelines tool to select children for referral to a clinical geneticist, and for genetic testing. In a phenotype-agnostic approach, CPS gene panel sequencing (143 genes) was offered to all children. In children declining the research CPS gene panel, 49 CPS genes were still analysed as part of routine diagnostics by the pathologist. Children with a causative CPS identified before neoplasm diagnosis were excluded. The primary objective was to compare the number and type of patients diagnosed with a CPS between the two approaches.</p></div><div><h3>Findings</h3><p>1052 children were eligible for this study, of whom 733 (70%) completed both the phenotype-driven approach and received phenotype-agnostic CPS gene panel sequencing (143 genes n=600; 49 genes n=133). In 53 children, a CPS was identified: 14 (26%) were diagnosed by the phenotype-driven approach only, 22 (42%) by CPS gene sequencing only, and 17 (32%) by both approaches. In 27 (51%) of the 53 children, the identified CPS was considered causative for the child's neoplasm. Only one (4%) of the 27 causative CPSs was missed by the phenotype-driven approach and was identified solely by phenotype-agnostic CPS gene sequencing. In 26 (49%) children, a CPS with uncertain causality was identified, including 14 adult-onset CPSs. The CPSs with uncertain causality were mainly detected by the phenotype-agnostic approach (21 [81%] of 26).</p></div><div><h3>Interpretation</h3><p>Phenotype-driven genetic testing and phenotype-agnostic CPS gene panel sequencing were complementary. The phenotype-driven approach identified the most causative CPSs. CPS gene panel sequencing identified additional CPSs, many of those with uncertain causality, but some with clinical utility. We advise clinical evaluation for CPSs in all children with neoplasms. Phenotype-agnostic testing of all CPS genes is preferably conducted only in research settings and should be paired with counseling.</p></div><div><h3>Funding</h3><p>Stichting Kinderen Kankervrij.</p></div>","PeriodicalId":54238,"journal":{"name":"Lancet Child & Adolescent Health","volume":"8 10","pages":"Pages 751-761"},"PeriodicalIF":19.9,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142006252","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Daniela de Souza: overcoming adversities to beat sepsis in Brazil","authors":"Talha Burki","doi":"10.1016/S2352-4642(24)00207-4","DOIUrl":"10.1016/S2352-4642(24)00207-4","url":null,"abstract":"","PeriodicalId":54238,"journal":{"name":"Lancet Child & Adolescent Health","volume":"8 9","pages":"Page 622"},"PeriodicalIF":19.9,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141979635","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Making sense of paediatric sepsis","authors":"The Lancet Child & Adolescent Health","doi":"10.1016/S2352-4642(24)00208-6","DOIUrl":"10.1016/S2352-4642(24)00208-6","url":null,"abstract":"","PeriodicalId":54238,"journal":{"name":"Lancet Child & Adolescent Health","volume":"8 9","pages":"Page 611"},"PeriodicalIF":19.9,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141979681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Susceptibility to childhood sepsis, contemporary management, and future directions","authors":"Michael J Carter MRCPCH DPhil ,&nbsp;Enitan D Carrol MD MBChB ,&nbsp;Suchitra Ranjit MD ,&nbsp;Rebeca Mozun MD PhD ,&nbsp;Niranjan Kissoon MBBS ,&nbsp;R Scott Watson MD MPH ,&nbsp;Prof Luregn J Schlapbach MD PhD","doi":"10.1016/S2352-4642(24)00141-X","DOIUrl":"10.1016/S2352-4642(24)00141-X","url":null,"abstract":"<div><p>Sepsis disproportionally affects children across all health-care settings and is one of the leading causes of morbidity and mortality in neonatal and paediatric age groups. As shown in the first paper in this Series, the age-specific incidence of sepsis is highest during the first years of life, before approaching adult incidence rates during adolescence. In the second paper in this Series, we focus on the unique susceptibility of paediatric patients to sepsis and how the underlying dysregulated host response relates to developmental aspects of children's immune system, genetic, perinatal, and environmental factors, and comorbidities and socioeconomic determinants of health, which often differ between children and adults. State-of-the-art clinical management of paediatric sepsis is organised around three treatment pillars—diagnosis, early resuscitation, and titration of advanced care—and we examine available treatment guidelines and the limitations of their supporting evidence. Serious evidence gaps remain in key areas of paediatric sepsis care, especially surrounding recognition, common interventions, and survivor support, and to this end we offer a research roadmap for the next decade that could accelerate targeted diagnostics and personalised use of immunomodulation. However, improving outcomes for children with sepsis relies fundamentally on systematic quality improvement in both recognition and treatment, which is the theme of the third paper in this Series. Digital health, as shown in the fourth and final paper of this Series, holds promising potential in breaking down the barriers that hinder progress in paediatric sepsis care and, ultimately, global child health.</p></div>","PeriodicalId":54238,"journal":{"name":"Lancet Child & Adolescent Health","volume":"8 9","pages":"Pages 682-694"},"PeriodicalIF":19.9,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S235246422400141X/pdfft?md5=b4ad6b1a63e506179c07ee5b706be9e3&pid=1-s2.0-S235246422400141X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141979676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rare and severe adverse events in children with inflammatory bowel disease","authors":"Jiangwei Sun ,&nbsp;Henrik Arnell ,&nbsp;Jonas F Ludvigsson ,&nbsp;Ola Olén","doi":"10.1016/S2352-4642(24)00176-7","DOIUrl":"10.1016/S2352-4642(24)00176-7","url":null,"abstract":"","PeriodicalId":54238,"journal":{"name":"Lancet Child & Adolescent Health","volume":"8 9","pages":"Page e8"},"PeriodicalIF":19.9,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141979870","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Caregiver mental health promotion and early parenting programmes","authors":"Jane Fisher","doi":"10.1016/S2352-4642(24)00190-1","DOIUrl":"10.1016/S2352-4642(24)00190-1","url":null,"abstract":"","PeriodicalId":54238,"journal":{"name":"Lancet Child & Adolescent Health","volume":"8 9","pages":"Pages 615-616"},"PeriodicalIF":19.9,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141979683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Luregn Schlapbach: advocating for children with sepsis","authors":"Talha Burki","doi":"10.1016/S2352-4642(24)00206-2","DOIUrl":"10.1016/S2352-4642(24)00206-2","url":null,"abstract":"","PeriodicalId":54238,"journal":{"name":"Lancet Child & Adolescent Health","volume":"8 9","pages":"Page 621"},"PeriodicalIF":19.9,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141979706","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of multi-component parenting and parental mental health interventions on early childhood development and parent outcomes: a systematic review and meta-analysis","authors":"Alya Al Sager MSc ,&nbsp;Prof Sherryl H Goodman PhD ,&nbsp;Joshua Jeong ScD ,&nbsp;Paul A Bain PhD ,&nbsp;Marilyn N Ahun PhD","doi":"10.1016/S2352-4642(24)00134-2","DOIUrl":"10.1016/S2352-4642(24)00134-2","url":null,"abstract":"<div><h3>Background</h3><p>Interventions supporting parents of young children often target parenting or parental mental health separately. Multi-component parenting and parental mental health interventions have the potential to improve parenting practices, mental health, and early childhood development. We aimed to examine their impact on child and parent outcomes.</p></div><div><h3>Methods</h3><p>In this systematic review and meta-analysis, we searched MEDLINE, Embase, Web of Science Core Collection, APA PsycINFO, CINAHL Complete, the Cochrane Central Register of Controlled Trials, and the Global Health Database from inception to Jan 23, 2024. Eligible studies were randomised controlled trials of interventions explicitly targeting parenting behaviours and parental mental health antenatally or in children's first 3 years of life. Screening, extraction, and quality assessment were done independently by two authors. Primary outcomes were cognitive and social–emotional functioning in children and depressive symptoms in parents, meta-analysed as standardised mean differences (SMDs), relative to control. This study is registered with PROSPERO, CRD42022302848.</p></div><div><h3>Findings</h3><p>We found 5843 records. After screening 2636 (45·1%) titles and abstracts, we manually identified and screened three additional articles and excluded 2177 records. After screening 462 full-length articles, 25 articles, representing a sample size of 8520 children and caregivers, were included. At baseline, mean caregiver age was 27·7 years (SD 5·9) and mean child age (excluding those enrolled during pregnancy) was 14·4 months (8·0). Interventions lasted a mean of 14 months (SD 11) and used a mean of 3·7 behaviour change techniques (2·0). Most interventions dedicated more time to parenting behaviours than to parental mental health. We found significant intervention effects on children's cognitive (SMD 0·19 [95% CI 0·04 to 0·34]; <em>I</em>²=69%) and social–emotional (0·26 [0·17 to 0·34]; <em>I</em>²=47%) outcomes but not on depressive symptoms in female caregivers (–0·18 [–0·36 to 0·002]; <em>I</em>²=86%) relative to control conditions. Risk of bias across studies was moderate, and we found heterogeneity across results.</p></div><div><h3>Interpretation</h3><p>Multi-component parenting and mental health interventions had a positive effect on child cognitive and social–emotional outcomes, but not on depressive symptoms in parents, suggesting that other factors might contribute to positive ECD outcomes. Interventions might lack adequate focus on mental health to make a discernible impact, highlighting a need for future studies to differentiate and assess contributions of parenting and mental health components to understand independent and collective effects on family outcomes.</p></div><div><h3>Funding</h3><p>Canadian Institutes of Health Research.</p></div>","PeriodicalId":54238,"journal":{"name":"Lancet Child & Adolescent Health","volume":"8 9","pages":"Pages 656-669"},"PeriodicalIF":19.9,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141979677","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Starting with empirical oral antibiotics for paediatric bone and joint infections","authors":"Jason G Newland","doi":"10.1016/S2352-4642(24)00191-3","DOIUrl":"10.1016/S2352-4642(24)00191-3","url":null,"abstract":"","PeriodicalId":54238,"journal":{"name":"Lancet Child & Adolescent Health","volume":"8 9","pages":"Pages 612-613"},"PeriodicalIF":19.9,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141979682","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Achievement goals and adolescent mental health in individualist versus collectivist cultures","authors":"Jasmine Eve Ong ,&nbsp;Penelope Wong ,&nbsp;Jasper Chua ,&nbsp;Annika See ,&nbsp;Rowalt Alibudbud","doi":"10.1016/S2352-4642(24)00170-6","DOIUrl":"10.1016/S2352-4642(24)00170-6","url":null,"abstract":"","PeriodicalId":54238,"journal":{"name":"Lancet Child & Adolescent Health","volume":"8 9","pages":"Page e7"},"PeriodicalIF":19.9,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141979636","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}