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Cyanosis in Childhood: A Clue to Hepatopulmonary Syndrome Due to Portosystemic Shunt. 儿童紫绀:门脉系统分流所致肝肺综合征的线索。
IF 2.3 3区 医学 Q1 PEDIATRICS Pub Date : 2025-12-01 DOI: 10.1002/ppul.71412
Renata Wrobel Folescu Cohen, Marcia Angélica B Valladares, Maria de Fátima Leite, Claudia Ribeiro, Dafne Dain Gandelman Horovitz, Tania Wrobel Folescu
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引用次数: 0
Pediatric Pulmonology 2024 Year in Review: Asthma. 儿科肺脏学2024年回顾:哮喘。
IF 2.3 3区 医学 Q1 PEDIATRICS Pub Date : 2025-12-01 DOI: 10.1002/ppul.71408
Andre Espaillat, Meera Jairath, Ceila E Loughlin

Children with asthma account for a large share of pediatric pulmonology patients1 In this review, we highlight pediatric asthma studies published in 2024. After reviewing the collected articles for their potential clinical impact, the authors organized the final selections into thematic groups for reader orientation: Diagnosis and Monitoring, Treatment and Management, Environmental and Social Factors, Genetics and Biomarkers, and Innovative Programs and Health Policy. Given the extensive number of studies published on pediatric asthma and limitations of space, we acknowledge that not every study can be included in this review. We hope this review will spark discussions on current clinical practices, as well as inspire future research in pediatric asthma.

哮喘儿童在儿科肺病患者中占很大比例1在本综述中,我们重点介绍了2024年发表的儿童哮喘研究。在审查了收集到的文章的潜在临床影响后,作者将最终的选择分为读者导向的主题组:诊断和监测,治疗和管理,环境和社会因素,遗传学和生物标志物,以及创新计划和卫生政策。鉴于已发表的关于儿童哮喘的大量研究和篇幅的限制,我们承认并非所有研究都可以纳入本综述。我们希望这篇综述将引发对当前临床实践的讨论,并启发未来儿科哮喘的研究。
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引用次数: 0
Congenital Lobar Emphysema in the Right Upper Lobe Segment (S1 + 2) That Was Associated With Separate Branching of Right Upper Bronchus (B1 + 2, B3). 右上肺叶段先天性大叶性肺气肿(S1 + 2)伴右上支气管分离分支(B1 + 2, B3)。
IF 2.3 3区 医学 Q1 PEDIATRICS Pub Date : 2025-12-01 DOI: 10.1002/ppul.71407
Shohei Takami, Hideyuki Yokokawa, Tomohiro Sunouchi, Rei Yoshida, Atsushi Nakao, Kazuko Obana, Yutaka Kanamori
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引用次数: 0
Barriers to Implementation of SMART: Views From Pediatric Asthma Specialists. 实施SMART的障碍:儿童哮喘专家的观点。
IF 2.3 3区 医学 Q1 PEDIATRICS Pub Date : 2025-12-01 DOI: 10.1002/ppul.71427
John Paul Jarczyk, Wayne J Morgan

Background: The Global Initiative for Asthma (GINA) and National Asthma Education and Prevention Program (NAEPP) both recommend a combination inhaled corticosteroid (ICS)/formoterol inhaler to replace short-acting beta-agonists (SABA) as the preferred reliever therapy for Steps 3 and 4 of their asthma treatment strategies (known as Single Maintenance and Reliever Therapy or SMART). The extent of adoption and factors influencing use among pediatric asthma specialists remain unclear.

Objective: To gain a better understanding of SMART prescribing practices and factors that facilitate or impede its use in the United States among pediatric asthma specialists.

Methods: An electronic survey on SMART knowledge and practices was distributed to pediatric pulmonology division directors for dissemination to pediatric asthma specialists in allergy and pulmonology divisions.

Results: Sixty-eight completed survey responses were received between March and October of 2024. All asthma specialists were familiar with SMART, and over 90% were comfortable with its implementation in pediatric asthma. However, there was wide variability in the percentage of patients advised to use their prescribed maintenance ICS/formoterol inhaler as a reliever that did not correlate with the comfort level of the clinician or years in clinical practice, but did correlate with the region of practice.

Conclusions: Despite GINA/NAEPP recommending SMART, there is substantial variation in its implementation among pediatric asthma specialists. Survey results indicate that pediatric asthma specialists are comfortable with its use, but that improvement in EMR efficiency and consistent insurance coverage are needed to increase SMART adoption.

背景:全球哮喘倡议(GINA)和国家哮喘教育和预防计划(NAEPP)都推荐联合吸入皮质类固醇(ICS)/福默特罗吸入器替代短效β激动剂(SABA)作为其哮喘治疗策略(称为单一维持和缓解治疗或SMART)的第3和第4步的首选缓解治疗。儿童哮喘专家的采用程度和影响使用的因素仍不清楚。目的:更好地了解SMART处方实践和促进或阻碍其在美国儿科哮喘专家中使用的因素。方法:将SMART知识和实践的电子调查分发给儿科肺病科主任,以便传播给过敏科和肺病科的儿科哮喘专家。结果:在2024年3月至10月期间,共收到68份完整的调查问卷。所有哮喘专家都熟悉SMART,超过90%的人对其在儿童哮喘中的应用感到满意。然而,建议使用处方维持ICS/福莫特罗吸入器作为缓解剂的患者百分比存在很大差异,这与临床医生的舒适度或临床实践年限无关,但确实与实践区域相关。结论:尽管GINA/NAEPP推荐SMART,但在儿科哮喘专家中,SMART的实施存在很大差异。调查结果表明,儿科哮喘专家对其使用感到满意,但需要提高电子病历的效率和一致的保险覆盖范围,以增加SMART的采用。
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引用次数: 0
Correction to "Gina Versus Childhood Asthma Control Test (Cact), Asthma Control Test (Act), and Asthma Control Questionnaire (Acq) to Determine Asthma Control in Children". 对“Gina与儿童哮喘控制试验(Act)、哮喘控制试验(Act)和哮喘控制问卷(Acq)确定儿童哮喘控制”的更正。
IF 2.3 3区 医学 Q1 PEDIATRICS Pub Date : 2025-12-01 DOI: 10.1002/ppul.71431
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引用次数: 0
Belumosudil in the Treatment of Restrictive Allograft Syndrome After Lung Transplantation-A Case Report. 白莫硫地尔治疗肺移植后限制性同种异体移植综合征1例报告。
IF 2.3 3区 医学 Q1 PEDIATRICS Pub Date : 2025-12-01 DOI: 10.1002/ppul.71421
Xiaohua Wang, Lulin Wang, Lihong Sun, Peihang Xu, Lijun Zeng, Xu Qin, Xuan Li, Chunrong Ju
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引用次数: 0
Allergic Sensitization Worsens Respiratory Health in Children With Asthma During Dust and Pollen Periods. 在灰尘和花粉期,过敏性致敏使哮喘儿童呼吸系统健康恶化。
IF 2.3 3区 医学 Q1 PEDIATRICS Pub Date : 2025-12-01 DOI: 10.1002/ppul.71428
Yinying Qian, Eric Garshick, Emmanouil Galanakis, Eleni Michaelidou, Stefani Zembashi, Egli Costi, Antonis Michanikou, Paraskevi Kinni, Petros Koutrakis, Panayiotis K Yiallouros, Constantinos Pitsios

Background: The Eastern Mediterranean has climatic conditions that increase exposure to aeroallergens due to higher pollen counts and dust storms. The association of atopy with measures of respiratory health, including fractional exhaled nitric oxide (FeNO) and pulmonary function among asthmatic children during dust and pollen periods has not been assessed.

Objective: Examine the association between allergic sensitization and respiratory health in children with asthma during dust and pollen seasons in the Eastern Mediterranean.

Methods: We conducted an analysis of prospectively collected respiratory health data from schoolchildren with asthma in Cyprus and Crete-Greece during spring and fall of 2019 and 2021. Children were assessed 3 to 4 times over 4 months, including evaluation of allergic sensitization by skin prick tests (SPTs). Mixed effect models were applied, adjusting for potential confounders, including study year, location, weeks on study, age and sex.

Results: There were 131 children included (77 atopic and 54 non-atopic; mean (SD) age = 9.5 (1.6) years; 65% boys). Over the study period, atopic children exhibited 113.71% (95% CI: 68.08%, 171.73%) higher FeNO concentrations and reduced FEV1/FVC% (-2.62, 95% CI: -5.00, -0.24) compared to non-atopic children. FeNO concentrations were positively associated with the degree of sensitization, as reflected by sensitization to perennial aeroallergens and the number of positive SPT results.

Conclusion: Atopic children with asthma may experience greater morbidity compared to non-atopic children during dust and pollen periods. Given the long-range transport of desert dust, clinicians both within and beyond the Eastern Mediterranean should be aware of this health concern.

背景:地中海东部的气候条件,增加暴露于空气过敏原由于较高的花粉计数和沙尘暴。特应性与呼吸健康指标的关系,包括哮喘儿童在粉尘和花粉期的呼气一氧化氮分数(FeNO)和肺功能,尚未得到评估。目的:探讨东地中海地区粉尘和花粉季节哮喘患儿过敏致敏与呼吸系统健康的关系。方法:我们对2019年和2021年春季和秋季塞浦路斯和克里特-希腊哮喘学童的前瞻性呼吸健康数据进行了分析。在4个月内对儿童进行3至4次评估,包括通过皮肤点刺试验(SPTs)评估过敏致敏性。采用混合效应模型,调整潜在的混杂因素,包括研究年份、地点、研究周数、年龄和性别。结果:131例患儿(特应性77例,非特应性54例),平均(SD)年龄为9.5(1.6)岁;65%的男孩)。在研究期间,与非特应性儿童相比,特应性儿童FeNO浓度升高113.71% (95% CI: 68.08%, 171.73%), FEV1/FVC%降低(- 2.62%,95% CI: -5.00, -0.24)。FeNO浓度与致敏程度呈正相关,反映在对多年生气体过敏原的致敏程度和SPT阳性结果的数量上。结论:与非特应性儿童相比,特应性儿童哮喘在粉尘和花粉期的发病率可能更高。考虑到沙漠沙尘的远距离传播,东地中海内外的临床医生都应该意识到这一健康问题。
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引用次数: 0
Cost-Effectiveness Analysis of Treatments for Children With Uncontrolled Asthma Symptoms Despite Inhaled Corticosteroids. 吸入皮质类固醇治疗未控制哮喘症状儿童的成本-效果分析。
IF 2.3 3区 医学 Q1 PEDIATRICS Pub Date : 2025-12-01 DOI: 10.1002/ppul.71414
Giovanna Culeddu, Sofia Cividini, Ian Sinha, Sarah Donegan, Katie Rose, Olivia Fulton, Stephen Turner, Catrin Tudur Smith, Dyfrig A Hughes

Introduction: There is uncertainty about the cost-effectiveness of treatment options for children and adolescents with uncontrolled asthma despite inhaled corticosteroid (ICS) treatment.

Methods: A Markov state-transition model was developed to simulate costs from the perspective of the National Health Service in the UK and health outcomes associated with low, medium and high dose ICS, ICS in combination with long-acting β2-adrenoceptor agonists (LABAs) or leukotriene receptor antagonists (LTRAs), and LTRA monotherapy. Healthcare resource use and health state utilities were identified from literature searches. Transition probabilities were derived from a systematic review and network meta-analysis. Total costs and quality-adjusted life years were computed, and incremental cost-effectiveness ratios estimated over a 1-year time horizon. Parameter, structural and probabilistic sensitivity analyses were performed.

Results: Compared with low-dose ICS, medium-dose ICS and ICS + LABA had incremental cost-effectiveness ratios of £255,555 and £304,956 per quality-adjusted life year gained, respectively. High-dose ICS, LTRA alone and in combination with ICS were dominated by alternatives which were less costly and associated with a greater number of quality-adjusted life years. The incremental cost-effectiveness ratio for medium-dose ICS reduced to £14,797 per quality-adjusted life year gained when the transition probabilities were increased to reflect a higher risk of asthma exacerbation. ICS + LABA became cost effective with a > 60% reduction in inhaler price.

Conclusions: Treatment escalation beyond low-dose ICS in children and adolescents with uncontrolled asthma may only be cost-effective in the UK if the prices of alternatives reduce or treatment is targeted to those at higher risk of asthma exacerbations.

尽管吸入皮质类固醇(ICS)治疗,但对于患有不受控制的哮喘的儿童和青少年,治疗方案的成本效益仍存在不确定性。方法:建立马尔科夫状态转换模型,从英国国民健康服务的角度模拟低、中、高剂量ICS的成本和与ICS联合长效β2-肾上腺素受体激动剂(LABAs)或白三烯受体拮抗剂(LTRAs)以及LTRA单药治疗相关的健康结果。从文献检索中确定医疗资源使用和健康状态效用。转移概率由系统回顾和网络荟萃分析得出。计算总成本和质量调整寿命年,并估计1年时间范围内的增量成本效益比。进行了参数、结构和概率敏感性分析。结果:与低剂量ICS相比,中剂量ICS和ICS + LABA每增加质量调整生命年的增量成本-效果比分别为255,555英镑和304,956英镑。高剂量ICS、单独LTRA和与ICS联合使用的替代方案占主导地位,这些替代方案成本较低,与更多的质量调整生命年相关。当过渡概率增加以反映更高的哮喘恶化风险时,中剂量ICS的增量成本效益比减少到每质量调整生命年14797英镑。ICS + LABA具有成本效益,吸入器价格降低了60%。结论:在英国,如果替代药物的价格降低,或者治疗针对哮喘发作风险较高的儿童和青少年,在低剂量ICS之外的治疗升级可能具有成本效益。
{"title":"Cost-Effectiveness Analysis of Treatments for Children With Uncontrolled Asthma Symptoms Despite Inhaled Corticosteroids.","authors":"Giovanna Culeddu, Sofia Cividini, Ian Sinha, Sarah Donegan, Katie Rose, Olivia Fulton, Stephen Turner, Catrin Tudur Smith, Dyfrig A Hughes","doi":"10.1002/ppul.71414","DOIUrl":"10.1002/ppul.71414","url":null,"abstract":"<p><strong>Introduction: </strong>There is uncertainty about the cost-effectiveness of treatment options for children and adolescents with uncontrolled asthma despite inhaled corticosteroid (ICS) treatment.</p><p><strong>Methods: </strong>A Markov state-transition model was developed to simulate costs from the perspective of the National Health Service in the UK and health outcomes associated with low, medium and high dose ICS, ICS in combination with long-acting β<sub>2</sub>-adrenoceptor agonists (LABAs) or leukotriene receptor antagonists (LTRAs), and LTRA monotherapy. Healthcare resource use and health state utilities were identified from literature searches. Transition probabilities were derived from a systematic review and network meta-analysis. Total costs and quality-adjusted life years were computed, and incremental cost-effectiveness ratios estimated over a 1-year time horizon. Parameter, structural and probabilistic sensitivity analyses were performed.</p><p><strong>Results: </strong>Compared with low-dose ICS, medium-dose ICS and ICS + LABA had incremental cost-effectiveness ratios of £255,555 and £304,956 per quality-adjusted life year gained, respectively. High-dose ICS, LTRA alone and in combination with ICS were dominated by alternatives which were less costly and associated with a greater number of quality-adjusted life years. The incremental cost-effectiveness ratio for medium-dose ICS reduced to £14,797 per quality-adjusted life year gained when the transition probabilities were increased to reflect a higher risk of asthma exacerbation. ICS + LABA became cost effective with a > 60% reduction in inhaler price.</p><p><strong>Conclusions: </strong>Treatment escalation beyond low-dose ICS in children and adolescents with uncontrolled asthma may only be cost-effective in the UK if the prices of alternatives reduce or treatment is targeted to those at higher risk of asthma exacerbations.</p>","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"60 12","pages":"e71414"},"PeriodicalIF":2.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12703566/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145757186","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Associations of Early Life Ambient PM2.5 Exposure With Asthma Risk in a Cohort of Preterm Infants With Bronchopulmonary Dysplasia. 支气管肺发育不良早产儿早期环境PM2.5暴露与哮喘风险的关系
IF 2.3 3区 医学 Q1 PEDIATRICS Pub Date : 2025-12-01 DOI: 10.1002/ppul.71432
Lizbeth F Gomez, Jonathan J Szeto, Joshua K Radack, Nicolas P Novick-Goldstein, Kristan A Scott, Daria C Murosko, Kathleen A Gibbs, Ella Whitman, Jonathan C Levin, Scott A Lorch, Sara B DeMauro, Chén C Kenyon, Allan C Just, Heather H Burris, Timothy D Nelin

Objective: To examine whether exposure to fine particulate matter (PM2.5) during the first year after neonatal intensive care unit (NICU) discharge is associated with asthma by age 5 among infants with bronchopulmonary dysplasia (BPD).

Methods: We conducted a retrospective cohort study of 337 infants with BPD, born between 2010 and 2019, who survived to discharge with clinical follow-up in the Children's Hospital of Philadelphia Care Network through age 5. Daily residential census block group PM2.5 exposures were estimated using a spatiotemporal machine-learning model and averaged over the first year after NICU discharge. Modified Poisson regression models with robust standard errors quantified associations of PM2.5 with asthma by age 5, adjusting for neonatal clinical factors, insurance, neighborhood deprivation, and race/ethnicity.

Results: By age 5 years, 169 (50.1%) infants had an asthma diagnosis. Mean annual PM2.5 exposure was 8.8 µg/m3 (SD 1.1). Each 1 µg/m3 increment of PM2.5 was associated with higher asthma risk (unadjusted RR 1.14, 95% CI: 1.03-1.25; fully adjusted aRR 1.19, 95% CI: 1.03-1.37). Compared to the lowest exposure tertile (mean 7.6 µg/m3), adjusted rates of asthma tended to be higher as exposure increased: Tertile 2 (mean 8.7 µg/m3, aRR 1.31; 95% CI: 0.98-1.74), Tertile 3 (mean 10.0 µg/m3, aRR 1.68, 95% CI: 1.17-2.4).

Conclusions: Exposure to higher ambient PM2.5 in the year after NICU discharge was associated with asthma by age 5 among children with BPD. These findings highlight early-life air quality as a modifiable determinant of long-term respiratory outcomes in infants with BPD.

目的:探讨新生儿重症监护病房(NICU)出院后第一年接触细颗粒物(PM2.5)是否与支气管肺发育不良(BPD)婴儿5岁前哮喘有关。方法:我们对2010年至2019年出生的337名BPD婴儿进行了回顾性队列研究,这些婴儿在费城儿童医院护理网络中存活至出院,并接受了5岁的临床随访。使用时空机器学习模型估计每日居住人口普查街区组PM2.5暴露量,并在新生儿重症监护室出院后的第一年进行平均。修正的泊松回归模型具有稳健的标准误差,量化了PM2.5与5岁前哮喘的关联,调整了新生儿临床因素、保险、邻里剥夺和种族/民族。结果:到5岁时,有169名(50.1%)婴儿被诊断为哮喘。年均PM2.5暴露量为8.8µg/m3 (SD 1.1)。PM2.5每增加1µg/m3与哮喘风险升高相关(未校正的相对危险度1.14,95% CI: 1.03-1.25;完全校正的相对危险度1.19,95% CI: 1.03-1.37)。与最低暴露浓度(平均7.6 μ g/m3)相比,随着暴露浓度的增加,调整后的哮喘发病率往往更高:tertile 2(平均8.7 μ g/m3, aRR 1.31; 95% CI: 0.98-1.74), tertile 3(平均10.0 μ g/m3, aRR 1.68, 95% CI: 1.17-2.4)。结论:新生儿重症监护室出院后一年暴露于较高的环境PM2.5与BPD患儿5岁前哮喘相关。这些发现强调了生命早期空气质量是BPD婴儿长期呼吸结果的可改变决定因素。
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引用次数: 0
Increasing Access to Genetic Counselors With Disease-Specific Expertise: Development of a Centralized Cystic Fibrosis Genetic Counseling Telehealth Model. 增加获得遗传咨询师与特定疾病的专业知识:一个集中的囊性纤维化遗传咨询远程医疗模式的发展。
IF 2.3 3区 医学 Q1 PEDIATRICS Pub Date : 2025-12-01 DOI: 10.1002/ppul.71416
Elinor Langfelder-Schwind, Melissa Basile, Rachel Moyal-Smith, Jennifer Polo, Molly A McGinniss, Jenna Petersen, Josua Talavera, Haylee Schwind, Richard B Parad, Karen S Raraigh

Introduction: Applications of genetic and genomic testing are increasing in clinical practice. However, access to genetic counselors (GCs), who can provide information and support to patients and providers, is limited and in high demand. We sought community feedback on a centralized cystic fibrosis-specific genetic counseling telehealth service (CFgc-T) as a novel, equitable solution.

Methods: We conducted virtual focus groups using semi-structured interview guides for service providers (GCs), referrers (CF center and newborn screening [NBS] program staff), consumers (people with CF [pwCF], their partners, parents of pwCF or positive CF NBS results), and payors. Transcripts were coded, deductive and inductive methods were used to identify core service model features, and the Consolidated Framework for Implementation Research (CFIR) guided assessment of barriers and facilitators to inform model design. We then prepared a video description of the CFgc-T model and sought feedback via survey from clinicians at 287 CF care centers and 52 consumers.

Results: Across 15 focus groups (n = 67 participants), experience with a GC (not necessarily CF-specific) varied. Referrers and providers supported CF-specific GC access, emphasizing the importance of scheduling flexibility, availability, and addressing systemic barriers (e.g., insurance, licensure, language). Consumers desired accurate, digestible information. Participants expressed concerns about discussing sensitive topics over telehealth, technology barriers, and cost; consumers were amenable to paying typical co-pays for valuable, accessible service. Additionally, 26 consumers and 67 clinicians provided feedback via survey. Overall, 58% of clinicians expressed interest in becoming a pilot site in a future implementation study, and 96% of consumers would refer family and friends to the CFgc-T service.

Conclusions: A centralized CFgc-T service staffed by GCs with CF expertise could improve equitable access to CF-specific genetic counseling and was viewed favorably by key community members. Telehealth delivery may help resolve workforce shortages in specialties where few GCs have relevant expertise, offering a scalable, equitable model for care.

基因和基因组检测在临床实践中的应用越来越多。然而,能够向患者和提供者提供信息和支持的遗传咨询师(GCs)的机会有限,而且需求量很大。我们寻求社区对集中的囊性纤维化特异性遗传咨询远程医疗服务(CFgc-T)作为一种新颖、公平的解决方案的反馈。方法:我们使用半结构化访谈指南对服务提供者(GCs)、转诊者(CF中心和新生儿筛查[NBS]项目工作人员)、消费者(CF患者[pwCF]、他们的伴侣、pwCF或CF NBS阳性结果的父母)和付款人进行了虚拟焦点小组。对转录本进行编码,使用演绎和归纳方法识别核心服务模型特征,并使用实施研究统一框架(CFIR)指导对障碍和促进因素的评估,为模型设计提供信息。然后,我们准备了CFgc-T模型的视频描述,并通过对287家CF护理中心的临床医生和52名消费者的调查寻求反馈。结果:在15个焦点小组(n = 67参与者)中,GC(不一定是特定于cf)的经验各不相同。推荐者和提供者支持特定于cf的GC访问,强调调度灵活性、可用性和解决系统障碍(例如,保险、许可、语言)的重要性。消费者需要准确、易于理解的信息。与会者对讨论远程保健、技术壁垒和成本等敏感议题表示关切;消费者愿意为有价值的、可获得的服务支付典型的自付费用。此外,26名消费者和67名临床医生通过调查提供了反馈。总体而言,58%的临床医生表示有兴趣成为未来实施研究的试点地点,96%的消费者会向家人和朋友推荐CFgc-T服务。结论:由具有CF专业知识的GCs组成的集中式CFgc-T服务可以提高CF特异性遗传咨询的公平获取,并得到关键社区成员的认可。远程保健服务可能有助于解决专业人员短缺的问题,在这些专业中,很少有全球保健中心拥有相关专业知识,提供可扩展的、公平的护理模式。
{"title":"Increasing Access to Genetic Counselors With Disease-Specific Expertise: Development of a Centralized Cystic Fibrosis Genetic Counseling Telehealth Model.","authors":"Elinor Langfelder-Schwind, Melissa Basile, Rachel Moyal-Smith, Jennifer Polo, Molly A McGinniss, Jenna Petersen, Josua Talavera, Haylee Schwind, Richard B Parad, Karen S Raraigh","doi":"10.1002/ppul.71416","DOIUrl":"https://doi.org/10.1002/ppul.71416","url":null,"abstract":"<p><strong>Introduction: </strong>Applications of genetic and genomic testing are increasing in clinical practice. However, access to genetic counselors (GCs), who can provide information and support to patients and providers, is limited and in high demand. We sought community feedback on a centralized cystic fibrosis-specific genetic counseling telehealth service (CFgc-T) as a novel, equitable solution.</p><p><strong>Methods: </strong>We conducted virtual focus groups using semi-structured interview guides for service providers (GCs), referrers (CF center and newborn screening [NBS] program staff), consumers (people with CF [pwCF], their partners, parents of pwCF or positive CF NBS results), and payors. Transcripts were coded, deductive and inductive methods were used to identify core service model features, and the Consolidated Framework for Implementation Research (CFIR) guided assessment of barriers and facilitators to inform model design. We then prepared a video description of the CFgc-T model and sought feedback via survey from clinicians at 287 CF care centers and 52 consumers.</p><p><strong>Results: </strong>Across 15 focus groups (n = 67 participants), experience with a GC (not necessarily CF-specific) varied. Referrers and providers supported CF-specific GC access, emphasizing the importance of scheduling flexibility, availability, and addressing systemic barriers (e.g., insurance, licensure, language). Consumers desired accurate, digestible information. Participants expressed concerns about discussing sensitive topics over telehealth, technology barriers, and cost; consumers were amenable to paying typical co-pays for valuable, accessible service. Additionally, 26 consumers and 67 clinicians provided feedback via survey. Overall, 58% of clinicians expressed interest in becoming a pilot site in a future implementation study, and 96% of consumers would refer family and friends to the CFgc-T service.</p><p><strong>Conclusions: </strong>A centralized CFgc-T service staffed by GCs with CF expertise could improve equitable access to CF-specific genetic counseling and was viewed favorably by key community members. Telehealth delivery may help resolve workforce shortages in specialties where few GCs have relevant expertise, offering a scalable, equitable model for care.</p>","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"60 12","pages":"e71416"},"PeriodicalIF":2.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145834577","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
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Pediatric Pulmonology
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