Pub Date : 2024-09-27eCollection Date: 2024-01-01DOI: 10.3389/fped.2024.1432808
Alain Cuna, Navin Kumar, Venkatesh Sampath
Necrotizing enterocolitis (NEC) remains a devastating disease in preterm and term neonates. Despite significant progress made in understanding NEC pathogenesis over the last 50 years, the inability of current definitions to discriminate the various pathophysiological processes underlying NEC has led to an umbrella term that limits clinical and research progress. In this mini review, we provide a historical perspective on how NEC definitions and pathogenesis have evolved to our current understanding of NEC endotypes. We also discuss how artificial intelligence-based approaches are influencing our knowledge of risk-factors, classification and prognosis of NEC and other neonatal intestinal injury phenotypes.
坏死性小肠结肠炎(NEC)仍然是早产儿和足月新生儿的一种毁灭性疾病。尽管在过去的 50 年中,人们在了解 NEC 发病机制方面取得了重大进展,但由于目前的定义无法区分 NEC 的各种病理生理过程,因此形成了一个限制临床和研究进展的总称。在这篇小型综述中,我们从历史的角度阐述了 NEC 定义和发病机制是如何演变到我们目前对 NEC 内型的理解的。我们还将讨论基于人工智能的方法如何影响我们对 NEC 和其他新生儿肠道损伤表型的风险因素、分类和预后的认识。
{"title":"Understanding necrotizing enterocolitis endotypes and acquired intestinal injury phenotypes from a historical and artificial intelligence perspective.","authors":"Alain Cuna, Navin Kumar, Venkatesh Sampath","doi":"10.3389/fped.2024.1432808","DOIUrl":"https://doi.org/10.3389/fped.2024.1432808","url":null,"abstract":"<p><p>Necrotizing enterocolitis (NEC) remains a devastating disease in preterm and term neonates. Despite significant progress made in understanding NEC pathogenesis over the last 50 years, the inability of current definitions to discriminate the various pathophysiological processes underlying NEC has led to an umbrella term that limits clinical and research progress. In this mini review, we provide a historical perspective on how NEC definitions and pathogenesis have evolved to our current understanding of NEC endotypes. We also discuss how artificial intelligence-based approaches are influencing our knowledge of risk-factors, classification and prognosis of NEC and other neonatal intestinal injury phenotypes.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11466774/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142463114","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}
Pub Date : 2024-09-27eCollection Date: 2024-01-01DOI: 10.3389/fped.2024.1397229
Oluwaferanmi O Okanlami, Jodi M Kreschmer, Saumya Gupta, Allison Lee, Aruna V Sarma, Courtney S Streur
Introduction: Health care providers caring for youth with physical disabilities encourage them to be as independent as possible, which includes obtaining higher education when feasible. However, little is known about the experiences of higher education students in managing their toileting.
Methods: We performed 1:1 semi-structured interviews with 13 current college students with physical disabilities (4 male, 9 female), of whom six were on a formal bladder and/or bowel management program. Three researchers analyzed all transcripts using constructivist grounded theory procedures.
Results: We identified six themes, including: (1) adherence to prescribed programs, (2) importance of time management, (3) interfering with class, (4) balancing intake and toileting, (5) campus bathroom experiences, and (6) acclimating to new living situations. Students needed strong personal skills in time management, adaptability, and self-advocacy to both manage their toileting needs and engage in academic and social activities. This often took time to develop while in college. They faced barriers such as a lack of private, well-maintained bathrooms.
Conclusions: Health care providers should encourage their patients to develop these personal skills prior to starting college, while colleges need to better support these students through honoring their accommodation needs and ensuring the availability of private, accessible bathrooms.
{"title":"\"I'm a bathroom expert\": a qualitative study exploring how students with physical disabilities manage toileting during college.","authors":"Oluwaferanmi O Okanlami, Jodi M Kreschmer, Saumya Gupta, Allison Lee, Aruna V Sarma, Courtney S Streur","doi":"10.3389/fped.2024.1397229","DOIUrl":"https://doi.org/10.3389/fped.2024.1397229","url":null,"abstract":"<p><strong>Introduction: </strong>Health care providers caring for youth with physical disabilities encourage them to be as independent as possible, which includes obtaining higher education when feasible. However, little is known about the experiences of higher education students in managing their toileting.</p><p><strong>Methods: </strong>We performed 1:1 semi-structured interviews with 13 current college students with physical disabilities (4 male, 9 female), of whom six were on a formal bladder and/or bowel management program. Three researchers analyzed all transcripts using constructivist grounded theory procedures.</p><p><strong>Results: </strong>We identified six themes, including: (1) adherence to prescribed programs, (2) importance of time management, (3) interfering with class, (4) balancing intake and toileting, (5) campus bathroom experiences, and (6) acclimating to new living situations. Students needed strong personal skills in time management, adaptability, and self-advocacy to both manage their toileting needs and engage in academic and social activities. This often took time to develop while in college. They faced barriers such as a lack of private, well-maintained bathrooms.</p><p><strong>Conclusions: </strong>Health care providers should encourage their patients to develop these personal skills prior to starting college, while colleges need to better support these students through honoring their accommodation needs and ensuring the availability of private, accessible bathrooms.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11466876/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142463057","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}
Background: Curcumin and Qing Dai (QD) are herbal extracts that recently showed efficacy in treating inflammatory bowel disease (IBD). Since 2016, a combination of curcumin with QD (CurQD) has been employed in our center for management of active ulcerative colitis (UC).
Objectives: We report the effectiveness and safety of CurQD therapy in children with mild-moderate UC or IBD-unclassified (IBD-U).
Design: A multicenter retrospective study.
Methods: Children aged ≤OP18 years who were treated with CurQD during 2017-2021 were included. Disease activity measures were Pediatric UC Activity Index (PUCAI), and fecal calprotectin (FC). The primary outcome was a decrease in PUCAI by ≥10 points, FC normalization (≤100 µg/gr when baseline ≥300 µg/gr) or a ≥ 50% decrease in FC.
Results: Of 30 patients (60% males, mean age 14 ± 3.9 years), 15 (50%), 13 (43%), and 2 (7%) had pancolitis, left-sided colitis and proctitis, respectively. The daily medication dose was 0.5-3 gm QD with 1-4 gm curcumin. Concomitant treatment at induction was corticosteroids (19%), biologics (28%) and 5-aminosalicylic acid (40%). The mean duration of induction was 11.6 weeks [95% confidence interval (CI) 10.2-13.1, range 8-16]. PUCAI decreased from a mean of 31.3 (95% CI 26.6-36.0, range 5-60) to 10.9 (95% CI 7.6-14.4, range 5-35) (n = 26, p < 0.001). FC response and normalization occurred in 11/12 and 7/12 patients, respectively. The median decline in FC was from 749 µg/gm [interquartile range (IQR) 566-1000] to 39 µg/gm (IQR 12-132) (n = 15, p = 0.04). During follow-up (median 8 months, IQR 6-10), 10 patients (33%) flared; five of them regained remission or responded to a treatment change. Of 18 patients treated beyond induction, 12 (67%) achieved clinical response and 10 achieved clinical remission by the end of follow up.
Conclusion: CurQD may be effective and safe as an add-on option to conventional management, for induction and maintenance in children with mild-moderate UC/IBD-U.
{"title":"The efficacy of curcumin/Qing Dai combination in children with active ulcerative colitis: a multicenter retrospective cohort study.","authors":"Nurit Loberman Nachum, Nir Salomon, Anat Yerushalmy-Feler, Yael Weintraub, Dotan Yogev, Maya Granot, Yael Haberman, Shomron Ben-Horin, Batia Weiss","doi":"10.3389/fped.2024.1342656","DOIUrl":"https://doi.org/10.3389/fped.2024.1342656","url":null,"abstract":"<p><strong>Background: </strong>Curcumin and Qing Dai (QD) are herbal extracts that recently showed efficacy in treating inflammatory bowel disease (IBD). Since 2016, a combination of curcumin with QD (CurQD) has been employed in our center for management of active ulcerative colitis (UC).</p><p><strong>Objectives: </strong>We report the effectiveness and safety of CurQD therapy in children with mild-moderate UC or IBD-unclassified (IBD-U).</p><p><strong>Design: </strong>A multicenter retrospective study.</p><p><strong>Methods: </strong>Children aged ≤OP18 years who were treated with CurQD during 2017-2021 were included. Disease activity measures were Pediatric UC Activity Index (PUCAI), and fecal calprotectin (FC). The primary outcome was a decrease in PUCAI by ≥10 points, FC normalization (≤100 µg/gr when baseline ≥300 µg/gr) or a ≥ 50% decrease in FC.</p><p><strong>Results: </strong>Of 30 patients (60% males, mean age 14 ± 3.9 years), 15 (50%), 13 (43%), and 2 (7%) had pancolitis, left-sided colitis and proctitis, respectively. The daily medication dose was 0.5-3 gm QD with 1-4 gm curcumin. Concomitant treatment at induction was corticosteroids (19%), biologics (28%) and 5-aminosalicylic acid (40%). The mean duration of induction was 11.6 weeks [95% confidence interval (CI) 10.2-13.1, range 8-16]. PUCAI decreased from a mean of 31.3 (95% CI 26.6-36.0, range 5-60) to 10.9 (95% CI 7.6-14.4, range 5-35) (<i>n</i> = 26, <i>p</i> < 0.001). FC response and normalization occurred in 11/12 and 7/12 patients, respectively. The median decline in FC was from 749 µg/gm [interquartile range (IQR) 566-1000] to 39 µg/gm (IQR 12-132) (<i>n</i> = 15, <i>p</i> = 0.04). During follow-up (median 8 months, IQR 6-10), 10 patients (33%) flared; five of them regained remission or responded to a treatment change. Of 18 patients treated beyond induction, 12 (67%) achieved clinical response and 10 achieved clinical remission by the end of follow up.</p><p><strong>Conclusion: </strong>CurQD may be effective and safe as an add-on option to conventional management, for induction and maintenance in children with mild-moderate UC/IBD-U.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11472327/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142463111","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}
Pub Date : 2024-09-27eCollection Date: 2024-01-01DOI: 10.3389/fped.2024.1443869
Tammie Dewan, Andrea Whiteley, Lyndsay Jerusha MacKay, Rachel Martens, Melanie Noel, Chantelle Barnard, Isabel Jordan, Anne Janvier, Sally Thorne
Background: Trust is a foundation of the therapeutic relationship and is associated with important patient outcomes. Building trust between parents of children with medical complexity (CMC) and physicians during inpatient care is complicated by lack of relational continuity, cumulative (sometimes negative) parent experiences and the need to adjust roles and expectations to accommodate parental expertise. This study's objective was to describe how parents of CMC conceptualize trust with physicians within the pediatric inpatient setting and to provide recommendations for building trust in these relationships.
Methods: Interviews with 16 parents of CMC were completed and analyzed using interpretive description methodology.
Results: The research team identified one overarching meta theme regarding factors that influence trust development: situational awareness is needed to inform personalized care of children and families. There were also six major themes: (1) ensuring that the focus is on the child and family, (2) respecting both parent and physician expertise, (3) collaborating effectively, (4) maintaining a flow of communication, (5) acknowledging the impact of personal attributes, and (6) recognizing issues related to the healthcare system.
Discussion: Many elements that facilitated trust development were also components of patient- and family-centered care. Parents in this study approached trust with inpatient physicians as something that needs to be earned and reciprocated. To gain the trust of parents of CMC, inpatient physicians should personalize medical care to address the needs of each child and should explore the perceptions, expertise, and previous experiences of their parents.
{"title":"Trust of inpatient physicians among parents of children with medical complexity: a qualitative study.","authors":"Tammie Dewan, Andrea Whiteley, Lyndsay Jerusha MacKay, Rachel Martens, Melanie Noel, Chantelle Barnard, Isabel Jordan, Anne Janvier, Sally Thorne","doi":"10.3389/fped.2024.1443869","DOIUrl":"https://doi.org/10.3389/fped.2024.1443869","url":null,"abstract":"<p><strong>Background: </strong>Trust is a foundation of the therapeutic relationship and is associated with important patient outcomes. Building trust between parents of children with medical complexity (CMC) and physicians during inpatient care is complicated by lack of relational continuity, cumulative (sometimes negative) parent experiences and the need to adjust roles and expectations to accommodate parental expertise. This study's objective was to describe how parents of CMC conceptualize trust with physicians within the pediatric inpatient setting and to provide recommendations for building trust in these relationships.</p><p><strong>Methods: </strong>Interviews with 16 parents of CMC were completed and analyzed using interpretive description methodology.</p><p><strong>Results: </strong>The research team identified one overarching meta theme regarding factors that influence trust development: situational awareness is needed to inform personalized care of children and families. There were also six major themes: (1) ensuring that the focus is on the child and family, (2) respecting both parent and physician expertise, (3) collaborating effectively, (4) maintaining a flow of communication, (5) acknowledging the impact of personal attributes, and (6) recognizing issues related to the healthcare system.</p><p><strong>Discussion: </strong>Many elements that facilitated trust development were also components of patient- and family-centered care. Parents in this study approached trust with inpatient physicians as something that needs to be earned and reciprocated. To gain the trust of parents of CMC, inpatient physicians should personalize medical care to address the needs of each child and should explore the perceptions, expertise, and previous experiences of their parents.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11466756/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142463113","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}
Pub Date : 2024-09-27eCollection Date: 2024-01-01DOI: 10.3389/fped.2024.1407341
Hua Yang, Jie Yang, Yawen Xue, Lihui Liao, Qianyun Cai, Rong Luo
Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations in the survival motor neuron 1 (SMN1) gene on chromosome 5, leading to the degeneration of lower motor neurons. There are few studies on cognitive impairment comorbid with SMA. Here, we report two cases of severe cognitive impairment in Chinese children with SMA type 1, marking the first such reports in this demographic. We propose that severe cognitive dysfunction may be a comorbidity of SMA. Clinicians should consider SMA in patients presenting with severe muscle weakness and atrophy accompanied by cognitive impairments, to avoid misdiagnosis and oversight.
脊髓性肌萎缩症(SMA)是一种常染色体隐性遗传病,由 5 号染色体上的存活运动神经元 1(SMN1)基因突变引起,导致下运动神经元变性。有关 SMA 合并认知障碍的研究很少。在此,我们报告了两例中国 1 型 SMA 患儿的严重认知障碍,这在该人群中尚属首次。我们认为,严重的认知功能障碍可能是 SMA 的合并症之一。临床医生应在患者出现重症肌无力和肌萎缩并伴有认知障碍时考虑 SMA,以避免误诊和漏诊。
{"title":"Cognitive impairment in children with 5q-associated spinal muscular atrophy type 1: two case reports and the review of the literature.","authors":"Hua Yang, Jie Yang, Yawen Xue, Lihui Liao, Qianyun Cai, Rong Luo","doi":"10.3389/fped.2024.1407341","DOIUrl":"https://doi.org/10.3389/fped.2024.1407341","url":null,"abstract":"<p><p>Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations in the survival motor neuron 1 (SMN1) gene on chromosome 5, leading to the degeneration of lower motor neurons. There are few studies on cognitive impairment comorbid with SMA. Here, we report two cases of severe cognitive impairment in Chinese children with SMA type 1, marking the first such reports in this demographic. We propose that severe cognitive dysfunction may be a comorbidity of SMA. Clinicians should consider SMA in patients presenting with severe muscle weakness and atrophy accompanied by cognitive impairments, to avoid misdiagnosis and oversight.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11466754/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485846","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}
Pub Date : 2024-09-27eCollection Date: 2024-01-01DOI: 10.3389/fped.2024.1410133
Pianpian Pan, Na Zhou, Yi Sun, Zhengrong Chen, Jin Han, Wei Zhou
Background: Coenzyme Q10 (CoQ10) plays an important role in the electron transport chain within the human mitochondrial respiratory chain. The manifestations of this deficiency exhibit a diverse range. This study investigates the clinical manifestations of primary coenzyme Q10 deficiency in neonates with the COQ4 mutation to improve the diagnosis of the disease and the prognosis through targeted treatment.
Methods: We report 4 patients with primary coenzyme Q10 deficiency by COQ4 variants in neonates. A comprehensive literature search and review for original articles and case reports with COQ4 mutation published from January 1989 to November 2023 was performed through Pubmed. We review clinical manifestations, diagnostic approaches, and treatment monitoring in these and 20 previously reported patients.
Results: Within the cohort of four cases examined, three females and one male were identified from two distinct families. Specifically, case 1 and 2 consisted of monoamniotic twins. Cases 3 and 4 were siblings. A comprehensive review of 20 cases involving neonatal-onset COQ4 mutation was conducted. Half of the cases are Chinese. There was no statistically significant difference in the mortality between Chinese (9/12, 75%) and other regions (11/12, 91.7%) (P = 0.27). The survival time for the 24 cases was 60.0 ± 98.0 days (95% confidence interval CI: 0-252.0 days). The incidence of prenatal abnormalities in preterm infants was significantly higher than that in full-term infants (66.7% vs. 16.7%, P = 0.02). Hyperlactatemia was one of the most common manifestations, accounting for 75% of cases (18/24). Twenty of the 24 cases were diagnosed by whole exome sequencing. Only 9 patients received exogenous coenzyme Q10 treatment, and all the 4 surviving patients received coenzyme Q10 supplementation.
Conclusion: The prognosis of COQ4 mutation in the neonatal period indicates a low survival rate and an poor prognosis. This may be due to the incomplete understanding of the mechanism of how COQ4 gene defects lead to coenzyme Q10 deficiency and why CoQ10 supplementation does not respond well to treatment. To improve the diagnostic rate, in addition to genetic testing, mitochondrial functional verification should be prioritized in southern China, where the incidence is relatively high. It will facilitate more in-depth mechanistic studies.
{"title":"The Spectrum of clinical manifestations in newborns with the COQ4 mutation: case series and literature review.","authors":"Pianpian Pan, Na Zhou, Yi Sun, Zhengrong Chen, Jin Han, Wei Zhou","doi":"10.3389/fped.2024.1410133","DOIUrl":"https://doi.org/10.3389/fped.2024.1410133","url":null,"abstract":"<p><strong>Background: </strong>Coenzyme Q10 (CoQ10) plays an important role in the electron transport chain within the human mitochondrial respiratory chain. The manifestations of this deficiency exhibit a diverse range. This study investigates the clinical manifestations of primary coenzyme Q10 deficiency in neonates with the COQ4 mutation to improve the diagnosis of the disease and the prognosis through targeted treatment.</p><p><strong>Methods: </strong>We report 4 patients with primary coenzyme Q10 deficiency by COQ4 variants in neonates. A comprehensive literature search and review for original articles and case reports with COQ4 mutation published from January 1989 to November 2023 was performed through Pubmed. We review clinical manifestations, diagnostic approaches, and treatment monitoring in these and 20 previously reported patients.</p><p><strong>Results: </strong>Within the cohort of four cases examined, three females and one male were identified from two distinct families. Specifically, case 1 and 2 consisted of monoamniotic twins. Cases 3 and 4 were siblings. A comprehensive review of 20 cases involving neonatal-onset COQ4 mutation was conducted. Half of the cases are Chinese. There was no statistically significant difference in the mortality between Chinese (9/12, 75%) and other regions (11/12, 91.7%) (<i>P</i> = 0.27). The survival time for the 24 cases was 60.0 ± 98.0 days (95% confidence interval CI: 0-252.0 days). The incidence of prenatal abnormalities in preterm infants was significantly higher than that in full-term infants (66.7% vs. 16.7%, <i>P </i>= 0.02). Hyperlactatemia was one of the most common manifestations, accounting for 75% of cases (18/24). Twenty of the 24 cases were diagnosed by whole exome sequencing. Only 9 patients received exogenous coenzyme Q10 treatment, and all the 4 surviving patients received coenzyme Q10 supplementation.</p><p><strong>Conclusion: </strong>The prognosis of COQ4 mutation in the neonatal period indicates a low survival rate and an poor prognosis. This may be due to the incomplete understanding of the mechanism of how COQ4 gene defects lead to coenzyme Q10 deficiency and why CoQ10 supplementation does not respond well to treatment. To improve the diagnostic rate, in addition to genetic testing, mitochondrial functional verification should be prioritized in southern China, where the incidence is relatively high. It will facilitate more in-depth mechanistic studies.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11466766/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142463112","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}
Pub Date : 2024-09-26eCollection Date: 2024-01-01DOI: 10.3389/fped.2024.1387406
Huaqiang Li, Xiaohua Ke, Dunbing Huang, Xiaqing Xu, Huan Tian, Jiaxin Gao, Cai Jiang, Wei Song
Purpose: The aim of the study was to synthesize previous evidence and clarify the prevalence of developmental coordination disorder (DCD) in children by meta-analysis.
Methods: A comprehensive computerized search of databases, including PubMed, Embase, Web of Science, The Cochrane Library, CINAHL, and PsycINFO databases, was conducted to identify relevant national and international articles published before 18 December 2023 on DCD prevalence in children. The meta-analysis of prevalence was conducted using Stata 18.0.
Results: A total of 18 papers involving 31,203 patients were included. The prevalence of children with DCD was found to be 5%. A subgroup analysis showed that prevalence was 7% [95% confidence interval (CI) 4%-10%] and 4% (95% CI 3%-7%) for boys and girls, respectively; 4% (95% CI 2%-8%), 2% (95% CI 2%-2%), and 6% (95% CI 3%-10%) in Asia, Europe, and North America, respectively; and 18% (95% CI 8%-31%) and 6% (95% CI 4%-7%) for preterm (<37 weeks) and term infants (≥37 weeks), respectively. The prevalence of very low birth weight children (<1,250 g) with DCD was found to be 31%.
Conclusion: In this study, we found that the prevalence of children with DCD in the general population was 5% and that preterm infants (<37 weeks) and very low birth weight infants (<1,250 g) have a higher prevalence of DCD and require early screening and regular follow-up.
目的:本研究旨在通过荟萃分析综合以往的证据并明确儿童发育协调障碍(DCD)的患病率:方法:对PubMed、Embase、Web of Science、The Cochrane Library、CINAHL和PsycINFO等数据库进行了全面的计算机检索,以确定2023年12月18日之前发表的关于儿童发育协调障碍患病率的国内外相关文章。使用Stata 18.0对患病率进行了荟萃分析:结果:共纳入 18 篇论文,涉及 31 203 名患者。结果发现,儿童 DCD 患病率为 5%。亚组分析显示,男孩和女孩的患病率分别为 7% [95% 置信区间 (CI) 4%-10%] 和 4% (95% CI 3%-7%) ;亚洲、欧洲和北美的患病率分别为 4% (95% CI 2%-8%) 、2% (95% CI 2%-2%) 和 6% (95% CI 3%-10%) ;早产儿的患病率分别为 18% (95% CI 8%-31%) 和 6% (95% CI 4%-7%) :在这项研究中,我们发现普通人群中患有 DCD 的儿童发病率为 5%,而早产儿(系统综述注册:https://www.crd.york.ac.uk/,标识符 (CRD42024503320)。
{"title":"The prevalence of developmental coordination disorder in children: a systematic review and meta-analysis.","authors":"Huaqiang Li, Xiaohua Ke, Dunbing Huang, Xiaqing Xu, Huan Tian, Jiaxin Gao, Cai Jiang, Wei Song","doi":"10.3389/fped.2024.1387406","DOIUrl":"10.3389/fped.2024.1387406","url":null,"abstract":"<p><strong>Purpose: </strong>The aim of the study was to synthesize previous evidence and clarify the prevalence of developmental coordination disorder (DCD) in children by meta-analysis.</p><p><strong>Methods: </strong>A comprehensive computerized search of databases, including PubMed, Embase, Web of Science, The Cochrane Library, CINAHL, and PsycINFO databases, was conducted to identify relevant national and international articles published before 18 December 2023 on DCD prevalence in children. The meta-analysis of prevalence was conducted using Stata 18.0.</p><p><strong>Results: </strong>A total of 18 papers involving 31,203 patients were included. The prevalence of children with DCD was found to be 5%. A subgroup analysis showed that prevalence was 7% [95% confidence interval (CI) 4%-10%] and 4% (95% CI 3%-7%) for boys and girls, respectively; 4% (95% CI 2%-8%), 2% (95% CI 2%-2%), and 6% (95% CI 3%-10%) in Asia, Europe, and North America, respectively; and 18% (95% CI 8%-31%) and 6% (95% CI 4%-7%) for preterm (<37 weeks) and term infants (≥37 weeks), respectively. The prevalence of very low birth weight children (<1,250 g) with DCD was found to be 31%.</p><p><strong>Conclusion: </strong>In this study, we found that the prevalence of children with DCD in the general population was 5% and that preterm infants (<37 weeks) and very low birth weight infants (<1,250 g) have a higher prevalence of DCD and require early screening and regular follow-up.</p><p><strong>Systematic review registration: </strong>https://www.crd.york.ac.uk/, Identifier (CRD42024503320).</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11464289/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142400103","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}
Pub Date : 2024-09-26eCollection Date: 2024-01-01DOI: 10.3389/fped.2024.1374629
John Wainaina, Esther Lee, Grace Irimu, Jalemba Aluvaala, Mike English
Background: Progress in neonatal care has resulted in a 51% decrease in global neonatal mortality rates from 1990 to 2017. Enhanced survival will put pressure on health care systems to provide appropriate post-discharge, follow-up care but the scale of need for such care is poorly defined.
Methods: We conducted a retrospective cohort study of newborns discharged from 23 public hospital neonatal units (NBUs) in Kenya between January 2018 and June 2023 to identify initial follow-up needs. We first determined pragmatic follow-up categories based on survivors' clinical conditions and morbidities. We then used individual phenotypes of individual babies to assign them to needing one or more forms of specialized clinical follow-up. We use descriptive statistics to estimate proportions of those with specific needs and patterns of need.
Findings: Among 136,249/159,792 (85.3%) neonates discharged, around one-third (33%) were low birth weight (<2,500 g), and a similar 33.4% were preterm (<37 weeks). We estimated 131,351 initial episodes of follow-up would be needed across nine distinct follow-up categories: general pediatrics, nutrition, growth & development (40.4%), auditory screening (38.8%), ophthalmology for retinopathy of prematurity (9.6%), neurology (8.0%), occupational therapy (1.3%), specialized nutrition (0.9%), surgery (0.8%), cardiology (0.2%), and pulmonary (<0.1%). Most neonates met the criteria for two (52.3%, 28,733), followed by three (39.6%, 21,738) and one follow-up episodes (5.6%, 3,098). In addition to prematurity and very low birth weight (≤1,500 g), severe infections with extended gentamicin treatment, severe jaundice managed with phototherapy, and hypoxic-ischemic encephalopathy (HIE) contributed substantially to the pattern of need for post-discharge follow-up.
Conclusions: Almost half of surviving NBU infants have multiple specialty post-discharge follow-up needs. More urgent attention needs to be focused on healthcare planning now to guide strategies to address the varied medical and developmental needs that we outline in resource-constrained contexts like Kenya.
{"title":"Identifying and quantifying initial post-discharge needs for clinical review of sick, newborns in Kenya based on a large multi-site, retrospective cohort study.","authors":"John Wainaina, Esther Lee, Grace Irimu, Jalemba Aluvaala, Mike English","doi":"10.3389/fped.2024.1374629","DOIUrl":"10.3389/fped.2024.1374629","url":null,"abstract":"<p><strong>Background: </strong>Progress in neonatal care has resulted in a 51% decrease in global neonatal mortality rates from 1990 to 2017. Enhanced survival will put pressure on health care systems to provide appropriate post-discharge, follow-up care but the scale of need for such care is poorly defined.</p><p><strong>Methods: </strong>We conducted a retrospective cohort study of newborns discharged from 23 public hospital neonatal units (NBUs) in Kenya between January 2018 and June 2023 to identify initial follow-up needs. We first determined pragmatic follow-up categories based on survivors' clinical conditions and morbidities. We then used individual phenotypes of individual babies to assign them to needing one or more forms of specialized clinical follow-up. We use descriptive statistics to estimate proportions of those with specific needs and patterns of need.</p><p><strong>Findings: </strong>Among 136,249/159,792 (85.3%) neonates discharged, around one-third (33%) were low birth weight (<2,500 g), and a similar 33.4% were preterm (<37 weeks). We estimated 131,351 initial episodes of follow-up would be needed across nine distinct follow-up categories: general pediatrics, nutrition, growth & development (40.4%), auditory screening (38.8%), ophthalmology for retinopathy of prematurity (9.6%), neurology (8.0%), occupational therapy (1.3%), specialized nutrition (0.9%), surgery (0.8%), cardiology (0.2%), and pulmonary (<0.1%). Most neonates met the criteria for two (52.3%, 28,733), followed by three (39.6%, 21,738) and one follow-up episodes (5.6%, 3,098). In addition to prematurity and very low birth weight (≤1,500 g), severe infections with extended gentamicin treatment, severe jaundice managed with phototherapy, and hypoxic-ischemic encephalopathy (HIE) contributed substantially to the pattern of need for post-discharge follow-up.</p><p><strong>Conclusions: </strong>Almost half of surviving NBU infants have multiple specialty post-discharge follow-up needs. More urgent attention needs to be focused on healthcare planning now to guide strategies to address the varied medical and developmental needs that we outline in resource-constrained contexts like Kenya.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11464310/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142400102","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}
Pub Date : 2024-09-25eCollection Date: 2024-01-01DOI: 10.3389/fped.2024.1367532
Johannes Weidner, Kai Fiedler, Mechthild Schulze-Becking, Christiaan Peter Sentner, Christoph Korenke, Axel Heep
Background: Central conducting lymphatic anomaly (CCLA) is a heterogeneous disorder characterized by structural anomalies in the main collecting lymphatic vasculature. These anomalies result in chronic chylous leaks, causing issues such as congenital hydrothorax and potentially impairing the normal immune response. Recently, mutations in the MyoD family inhibitor domain-containing (MDFIC) gene have been identified as a cause of CCLA. Group A Streptococcus infections are common, and timely identification of patients at risk for severe complications is crucial.
Case presentation: Here, we present the case of a 13-year-old female patient with CCLA associated with an MDFIC mutation, who suffered from a severe group A Streptococcus sepsis. Initially, the patient was unresponsive to aggressive fluid resuscitation. Although the course of the sepsis was severe, standardized treatment according to the surviving sepsis campaign proved effective in stabilizing the patient.
Discussion: The patient's MDFIC mutation may have contributed to the severe clinical course of the sepsis. It is theorized that this mutation affects the function of the immune system both indirectly, by causing CCLA, and directly, by potentially influencing transcriptional activity in immune cells. More research on the effect of MDFIC mutations on immune responses is required.
{"title":"Case Report: <i>MDFIC</i> gene mutation resulting in central conducting lymphatic anomaly facilitates group A <i>Streptococcus</i> sepsis.","authors":"Johannes Weidner, Kai Fiedler, Mechthild Schulze-Becking, Christiaan Peter Sentner, Christoph Korenke, Axel Heep","doi":"10.3389/fped.2024.1367532","DOIUrl":"10.3389/fped.2024.1367532","url":null,"abstract":"<p><strong>Background: </strong>Central conducting lymphatic anomaly (CCLA) is a heterogeneous disorder characterized by structural anomalies in the main collecting lymphatic vasculature. These anomalies result in chronic chylous leaks, causing issues such as congenital hydrothorax and potentially impairing the normal immune response. Recently, mutations in the MyoD family inhibitor domain-containing (<i>MDFIC</i>) gene have been identified as a cause of CCLA. Group A <i>Streptococcus</i> infections are common, and timely identification of patients at risk for severe complications is crucial.</p><p><strong>Case presentation: </strong>Here, we present the case of a 13-year-old female patient with CCLA associated with an <i>MDFIC</i> mutation, who suffered from a severe group A <i>Streptococcus</i> sepsis. Initially, the patient was unresponsive to aggressive fluid resuscitation. Although the course of the sepsis was severe, standardized treatment according to the surviving sepsis campaign proved effective in stabilizing the patient.</p><p><strong>Discussion: </strong>The patient's <i>MDFIC</i> mutation may have contributed to the severe clinical course of the sepsis. It is theorized that this mutation affects the function of the immune system both indirectly, by causing CCLA, and directly, by potentially influencing transcriptional activity in immune cells. More research on the effect of <i>MDFIC</i> mutations on immune responses is required.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11461237/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142389763","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}
Background: Transcutaneous bilirubin (TcB) measurements during and after phototherapy for hyperbilirubinemia must be performed on unexposed skin. There are commercially made skin patches for this purpose, but they are relatively unavailable in low-resource settings. We devised a simple cotton patch and tested its use for TcB during phototherapy.
Methods: Measurements were taken in healthy neonates born at a gestational age of ≥35 weeks who were undergoing phototherapy for hyperbilirubinemia in western India before, 12 h after the start, and 12 h after the end of phototherapy. Total serum bilirubin (TSB) was measured using the diazo method in a clinical laboratory. TcB measurements were performed using a Dräger Jaundice Meter JM-105 placed over the sternum on two skin areas that were protected during and after treatment by a commercial (Philips BilEclipse) or self-made patch comprised of cotton gauze and wool.
Results: In total, 47 neonates were included in our study. Before phototherapy, TSB and TcB values had a strong correlation (Pearson, r = 0.88), with a mean difference of -1.35 mg/dl. Correlations with TSB were good and equivalent for TcB values measured on skin covered by the commercial and self-made patches during (0.78 and 0.70, respectively) and after (0.57 and 0.58, respectively) phototherapy. TcB values measured on skin covered by the two patches correlated well both during and after phototherapy, with r = 0.82 and 0.90, respectively, and mean (95% confidence interval) differences of -1.21 and -0.32 mg/dl, respectively.
Conclusions: Reliable TcB measurements taken during and after phototherapy can be achieved on skin covered with a simple and affordable cotton skin patch.
{"title":"The use of a simple and affordable skin patch for measurement of transcutaneous bilirubin levels in neonates during phototherapy.","authors":"Aditya Kallimath, Suprabha Patnaik, Pradeep Suryawanshi, Rupeshkumar Deshmukh, Nandini Malshe","doi":"10.3389/fped.2024.1434770","DOIUrl":"10.3389/fped.2024.1434770","url":null,"abstract":"<p><strong>Background: </strong>Transcutaneous bilirubin (TcB) measurements during and after phototherapy for hyperbilirubinemia must be performed on unexposed skin. There are commercially made skin patches for this purpose, but they are relatively unavailable in low-resource settings. We devised a simple cotton patch and tested its use for TcB during phototherapy.</p><p><strong>Methods: </strong>Measurements were taken in healthy neonates born at a gestational age of ≥35 weeks who were undergoing phototherapy for hyperbilirubinemia in western India before, 12 h after the start, and 12 h after the end of phototherapy. Total serum bilirubin (TSB) was measured using the diazo method in a clinical laboratory. TcB measurements were performed using a Dräger Jaundice Meter JM-105 placed over the sternum on two skin areas that were protected during and after treatment by a commercial (Philips BilEclipse) or self-made patch comprised of cotton gauze and wool.</p><p><strong>Results: </strong>In total, 47 neonates were included in our study. Before phototherapy, TSB and TcB values had a strong correlation (Pearson, <i>r</i> = 0.88), with a mean difference of -1.35 mg/dl. Correlations with TSB were good and equivalent for TcB values measured on skin covered by the commercial and self-made patches during (0.78 and 0.70, respectively) and after (0.57 and 0.58, respectively) phototherapy. TcB values measured on skin covered by the two patches correlated well both during and after phototherapy, with <i>r</i> = 0.82 and 0.90, respectively, and mean (95% confidence interval) differences of -1.21 and -0.32 mg/dl, respectively.</p><p><strong>Conclusions: </strong>Reliable TcB measurements taken during and after phototherapy can be achieved on skin covered with a simple and affordable cotton skin patch.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11461201/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142389770","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}