Pub Date : 2024-10-30DOI: 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.
{"title":"Hospital-recorded chronic health conditions in children with and without Down syndrome in England: a national cohort of births from 2003 to 2019.","authors":"Julia Shumway, Jill Ellis, Alice Stephens, Bianca Lucia De Stavola, Ruth Gilbert, Ania Zylbersztejn","doi":"10.1136/archdischild-2024-327532","DOIUrl":"https://doi.org/10.1136/archdischild-2024-327532","url":null,"abstract":"<p><strong>Objective: </strong>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.</p><p><strong>Design: </strong>National birth cohort using hospital admission and death records.</p><p><strong>Setting: </strong>National Health Service (NHS)-funded hospitals in England.</p><p><strong>Population: </strong>Liveborn, singleton infants born in NHS-funded hospitals between 2003 and 2019.</p><p><strong>Main outcome measures: </strong>Cumulative incidence of nine categories of hospital-recorded CHCs, multimorbidity and mortality.</p><p><strong>Results: </strong>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).</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":8150,"journal":{"name":"Archives of Disease in Childhood","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142543316","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}
{"title":"Case of sapphire eyes with hearing loss: Waardenburg syndrome type 1 in a young girl.","authors":"Vishal Gaurav, Gaby Lalmuanpuii, Pavani Gowda, Aditi Guglani","doi":"10.1136/archdischild-2024-327905","DOIUrl":"https://doi.org/10.1136/archdischild-2024-327905","url":null,"abstract":"","PeriodicalId":8150,"journal":{"name":"Archives of Disease in Childhood","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142543305","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}
Pub Date : 2024-10-29DOI: 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.
{"title":"Effectiveness of paediatric asthma hubs: a clinical pilot study.","authors":"Ali Hakizimana, David K H Lo, Damian Roland, Vinayak K Rai, Lesley Danvers, Rachel Rowlands, Molla Imaduddin Ahmed, Reeta Herzallah, Erol A Gaillard","doi":"10.1136/archdischild-2023-326635","DOIUrl":"https://doi.org/10.1136/archdischild-2023-326635","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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).</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":8150,"journal":{"name":"Archives of Disease in Childhood","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142543307","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}
Pub Date : 2024-10-29DOI: 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.
{"title":"Predictive performance of cerebrospinal fluid parameters for diagnosis of meningitis in infants: a cohort study.","authors":"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","doi":"10.1136/archdischild-2024-327628","DOIUrl":"https://doi.org/10.1136/archdischild-2024-327628","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>For bacterial meningitis, the sensitivity of the commonly used CSF WCC cut-off of 20×10<sup>6</sup>/L for neonates, 15×10<sup>6</sup>/L for infants 1-2 months old and 5×10<sup>6</sup>/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 ≥2×10<sup>6</sup>/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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":8150,"journal":{"name":"Archives of Disease in Childhood","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142543317","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}
Pub Date : 2024-10-29DOI: 10.1136/archdischild-2024-327752
Frederica Sarantis, Aisosa Osas Guobadia, Marwa A Bebars, Rachana Varma, Jonathon A A Holland, Thiloka Ratnaike
{"title":"Should next-generation sequencing be considered as a first-line genetic investigation for children with early developmental impairment?","authors":"Frederica Sarantis, Aisosa Osas Guobadia, Marwa A Bebars, Rachana Varma, Jonathon A A Holland, Thiloka Ratnaike","doi":"10.1136/archdischild-2024-327752","DOIUrl":"https://doi.org/10.1136/archdischild-2024-327752","url":null,"abstract":"","PeriodicalId":8150,"journal":{"name":"Archives of Disease in Childhood","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142543318","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}
Pub Date : 2024-10-24DOI: 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.
{"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}
Pub Date : 2024-10-23DOI: 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.
{"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}
Pub Date : 2024-10-23DOI: 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.
{"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}
Pub Date : 2024-10-21DOI: 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.
{"title":"COVID-19 vaccine effectiveness and uptake in a national cohort of English children and young people with life-limiting neurodisability.","authors":"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","doi":"10.1136/archdischild-2024-327293","DOIUrl":"https://doi.org/10.1136/archdischild-2024-327293","url":null,"abstract":"<p><strong>Objective: </strong>To investigate SARS-CoV-2 vaccine uptake and effectiveness in children and young people (CYP) with life-limiting neurodisability.</p><p><strong>Design: </strong>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.</p><p><strong>Patients: </strong>CYP aged 5-17 with life-limiting neurodisability.</p><p><strong>Results: </strong>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)).</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":8150,"journal":{"name":"Archives of Disease in Childhood","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142456697","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}
Pub Date : 2024-10-21DOI: 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.
{"title":"Natural history of otitis media with effusion without hearing loss in children under 12 years: a systematic review.","authors":"Aye Paing, Laura Elliff-O'Shea, Tamsin Holland Brown, Stephanie Arnold, John Day, Jennifer Royds, Veronica Kennedy","doi":"10.1136/archdischild-2024-327464","DOIUrl":"https://doi.org/10.1136/archdischild-2024-327464","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to evaluate the natural history of otitis media with effusion (OME) without hearing loss in children under 12 years.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":8150,"journal":{"name":"Archives of Disease in Childhood","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142456700","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}