Acta Paediatrica最新文献

{"title":"Clinical Characteristics, Genotypes, and Treatment Outcomes in 133 Patients With Spinal Muscular Atrophy: A Retrospective Cohort.","authors":"Siyi Gan, Li Xu, Haiyan Yang, Liwen Wu","doi":"10.1111/apa.70263","DOIUrl":"https://doi.org/10.1111/apa.70263","url":null,"abstract":"<p><strong>Aim: </strong>To characterise spinal muscular atrophy (SMA) phenotypes, genetic profiles, and nusinersen efficacy in China.</p><p><strong>Methods: </strong>In 133 SMA patients (age 6.38 ± 3.66 years), SMN1 mutations and SMN2 copy numbers were analysed by MLPA and sequencing. Motor function was longitudinally assessed using subtype-specific scales (CHOP-INTEND/HFMSE/RULM/6MWT) at baseline, 6, and 12 months post-nusinersen.</p><p><strong>Results: </strong>Cohort distribution: type I 31.6% (42/133), II 42.1% (56/133), III 26.3% (35/133). Genetic profiling identified: SMN1 exon7 + 8 deletions (81.2%, 108/133); exon7-only deletions (15.0%, 20/133); and a novel c.884A>T; c.22dup mutation (0.8%). SMN2 copy number inversely correlated with clinical severity (p < 0.001). At 12 months, type I patients showed CHOP-INTEND improvement from 22.0 ± 10.7 to 34.4 ± 14.9 (Δ12.4 ± 8.7; all Δ ≥ 5); type II demonstrated HFMSE Δ3.6 ± 3.4 and RULM Δ3.4 ± 2.1 (1 ambulation milestone); type III exhibited 6MWT gains of 48.8 ± 35.1 m (Δrange 6.0-119.8) with concurrent RULM/HFMSE improvements.</p><p><strong>Conclusions: </strong>Nusinersen elicited clinically significant motor improvements across SMA subtypes, demonstrating the strongest functional gains in type I (56.4% CHOP-INTEND improvement). We report for the first time a rare case of SMN1 compound heterozygous double-site mutations (c.884A>T; c.22dup).</p>","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144786019","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Severe Infectious Hit to the Lungs With Poor Recovery? Time to Think of Post-Infectious Bronchiolitis Obliterans.","authors":"Eero Lauhkonen","doi":"10.1111/apa.70270","DOIUrl":"https://doi.org/10.1111/apa.70270","url":null,"abstract":"","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144786018","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Existing Tools for Improving Day-to-Day Communication With Parents in Neonatology: A Narrative Review.","authors":"Gabriel Lucile, Berne-Audéoud Frédérique, Rébeillé Borgella Blandine, Chevallier Marie","doi":"10.1111/apa.70264","DOIUrl":"https://doi.org/10.1111/apa.70264","url":null,"abstract":"<p><strong>Aim: </strong>Communication is essential, yet rarely taught in paediatrics. The literature describes skills to improve parent communication in neonatal intensive care units.</p><p><strong>Methods: </strong>A PubMed search from 1 January 2023 to 5 May 2025 retrieved articles on communication in neonatology. Communication related to poor prognosis, end-of-life, antenatal issues, ethics and family integrated care was excluded. Data underwent deductive and inductive thematic analysis.</p><p><strong>Results: </strong>The review included 37 articles, with three themes: basic skills of good communication, means of strengthening communication and learning communication skills. Basic skills comprised: preparing the meeting, using the infant's name, having a dedicated caregiver, being interested in psychosocial and lifestyle issues, paying attention to non-verbal communication and being aware of what the parents want to know and knowing how to say it. Means of strengthening communication comprised acronym checklists, communication algorithms, written information, counselling tools, FaceTime or text-messaging and adapting communication for non-native-speaking parents. Communication skills could be learned by simulation and calling on a counsellor.</p><p><strong>Conclusion: </strong>This review highlighted some of the ways in which neonatologists can improve communication skills. Knowing basic interactions, using structured frameworks, giving written tools for parents and running communication training simulations are some of the key elements highlighted in the literature.</p>","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144776982","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Children's Increased Screen Time During the Pandemic Is Now the New Normal","authors":"Sissela B. Nutley","doi":"10.1111/apa.70262","DOIUrl":"10.1111/apa.70262","url":null,"abstract":"&lt;p&gt;The restrictions during the COVID-19 pandemic were widespread and lengthy and had consequences for the daily lives of children, adolescents and adults worldwide. While the restrictions placed on children and adolescents were relatively mild in Sweden, they still seem to have had a lasting impact on some aspects of daily life.&lt;/p&gt;&lt;p&gt;A repeated cross-sectional population-based study by Kägi-Braun et al., published in &lt;i&gt;Acta Paediatrica&lt;/i&gt;, focused on physical activity and screen time trends in Swedish children and adolescents aged 4–17 years of age. The Generation Pep Study, which covered the period 2018–2023, showed that the increased sedentary screen time seen outside school during the pandemic remained at that new higher level after it ended [&lt;span&gt;1&lt;/span&gt;]. This corroborated similar results from longitudinal studies of Swedish adolescents published in 2023: Berggren et al., Helgadóttir et al. and Nutley et al. [&lt;span&gt;2-4&lt;/span&gt;] It also extended this finding to the general population. The advantage of using a large representative sample of more than 50,000 individuals is that the findings covered age-specific behaviours in more detail. It also means they are more likely to be generalisable. Furthermore, a subset of the sample used accelerometers to provide objective measures of physical activity and more specific information on their digital use. While the overall trend was that time spent on digital screens increased during and after the pandemic, the subsample revealed that most of this was on social media.&lt;/p&gt;&lt;p&gt;While the content and context of social and other digital media use matters, increased screen time at a population level is of concern for several reasons. A systematic review published by Santos et al. in 2023 showed that excessive digital media use had negative associations with mental and physical health outcomes [&lt;span&gt;5&lt;/span&gt;]. It also increased the risk of addictive use and displaced health promoting behaviours, such as sleep and exercise. Digital media is known to affect children in different ways, depending on both the characteristics of the child and the context that it is used in. However, the overall time spent on it does need to be monitored, as there are only a certain number of hours available in a day. Increasing sedentary time spent on digital media will lead to less time spent on factors like sleep, schoolwork and physical activity. This is known as media displacement effects. So what happened to children and young people, at the population level, during the pandemic and what do we need to do to address this?&lt;/p&gt;&lt;p&gt;The pandemic posed an interesting time-based experiment, as the daily activities of some age groups were greatly affected by studying or working from home. This eliminated travelling time and the physical activity associated with that. This was reflected in the study by Kägi-Braun [&lt;span&gt;1&lt;/span&gt;] and the other longitudinal samples mentioned above. These reported less physical activity in the adoles","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":"114 10","pages":"2421-2423"},"PeriodicalIF":2.1,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/apa.70262","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144776981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unequal Access to Respiratory Syncytial Virus Prevention: Is There a Health Equity Issue in Italy?","authors":"Maurizio Aricò, Enrico Valletta, Liborio Stuppia, Martina Fornaro, Melodie O Aricò, Desiree Caselli","doi":"10.1111/apa.70265","DOIUrl":"https://doi.org/10.1111/apa.70265","url":null,"abstract":"","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144762438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Urinary Calcium and Phosphorus Excretion in Vitamin D-Sufficient Preterm Infants: Establishing Age-Specific Normative Data.","authors":"Tomas Matejek, Veronika Pokorna, Vojtech Drahy, Lenka Zaloudkova, Vladimir Palicka, Sylva Skalova","doi":"10.1111/apa.70253","DOIUrl":"https://doi.org/10.1111/apa.70253","url":null,"abstract":"<p><strong>Aim: </strong>This study evaluated urinary calcium (Ca) and phosphorus (P) excretion in very low birth weight infants ( < 1500 g, VLBW) without severe morbidity, treated with methylxanthines.</p><p><strong>Methods: </strong>Eighty-one VLBW infants were analysed. Urinary Ca and P and their creatinine ratios were measured biweekly until day 56. Serum parathyroid hormone (PTH), 25-hydroxyvitamin D [25-(OH)D], total Ca, P and alkaline phosphatase (ALP) were assessed. Bone densitometry was performed before discharge.</p><p><strong>Results: </strong>In 254 urine samples, urinary Ca and P excretion differed significantly from their creatinine ratios. Vitamin D status influenced urinary mineral excretion, likely via PTH regulation, but did not affect serum Ca, P, or ALP. Normative data were established only for infants with serum 25-(OH)D > 50 nmol/L. Due to age-related variability, a single reference range was not possible.</p><p><strong>Conclusions: </strong>We provide age-specific normative data for urinary Ca and P excretion in healthy VLBW infants with sufficient vitamin D. Urinary mineral excretion varies significantly with postnatal age, emphasising the need for individualised monitoring to prevent metabolic bone disease of prematurity. Vitamin D status is crucial for calcium-phosphorus homeostasis, with sufficient levels linked to increased Ca excretion and relative P depletion from the 2 month of life.</p>","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144765833","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Supporting Early Skin-to-Skin Care of Infants Born at 22-23 Weeks' Gestation.","authors":"Ylva Thernström Blomqvist, Fanny Söderström, Victoria Karlsson","doi":"10.1111/apa.70255","DOIUrl":"https://doi.org/10.1111/apa.70255","url":null,"abstract":"<p><strong>Aim: </strong>While skin-to-skin care (SSC) early after birth has been demonstrated to promote many benefits in very preterm infants, including thermal stability, less is known about its feasibility in infants born extremely preterm. We aimed to evaluate our practice of initiating SSC in the 1 week of life also in the most immature infants, those born at less than 24 weeks gestation.</p><p><strong>Methods: </strong>Retrospective chart review of all inborn infants with a gestational age (GA) of 22+0-23+6 weeks, during a 5-year period (2015-2019) at Uppsala University Hospital, Sweden.</p><p><strong>Results: </strong>Out of 57 infants, 43 infants (GA 23⁺¹ ± 0.5 weeks; birth weight 520 ± 75 g) had their first SSC in the 1 week of life, at a median (IQR) age of 4 (3; 5) days, when most infants were still receiving mechanical ventilation (93%) and had umbilical catheters (63%). SSC duration was 128 ± 74 min. Significant hypothermia (< 36.0°) occurred in 2/43 (5%). 72% survived.</p><p><strong>Conclusions: </strong>In our practice, skin-to-skin care in the 1 week of life is feasible, and in this retrospective study, few infants (5%) experienced hypothermia. Further improvements in the SSC procedure could be expected to further minimise the risk of hypothermia.</p>","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144765832","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Parity Influences the Immune Profile of Human Milk via Increased T Lymphocyte Content.","authors":"Agata Tomaszewska, Klaudia Porębska, Alicja Jeleniewska, Katarzyna Królikowska, Agnieszka Lipińska-Opałka, Agnieszka Rustecka, Robert Zdanowski, Joanna Kalicka, Agata Będzichowska, Jacek Z Kubiak, Bolesław Kalicki","doi":"10.1111/apa.70259","DOIUrl":"https://doi.org/10.1111/apa.70259","url":null,"abstract":"<p><strong>Aim: </strong>Breast milk contains immune cells, but the factors influencing their composition are not fully understood. The role of maternal reproductive history in shaping this composition has largely been overlooked. The aim of this study was to evaluate the content of leukocytes, stem cells, and lactocytes in the milk of primiparous mothers compared to multiparous mothers.</p><p><strong>Methods: </strong>Forty-nine breastfeeding mothers were enrolled in the study: primiparous and multiparous women. Human milk was collected from each participant to assess the content ofthe leukocyte (CD45+), including B lymphocytes (CD19+), NK lymphocytes (CD 16/56+), and T lymphocytes (CD3+), with their subpopulations (CD4+ helper lymphocytes and CD8+ cytotoxic lymphocytes). The percentage of haematopoietic stem cells (CD45-CD105+34+326-), mesenchymal stem cells (CD45-CD105+73+44+) and lactocytes (CD45-CD105+326+) was also determined.</p><p><strong>Results: </strong>The percentage of lactocytes with the CD326+73- phenotype was significantly higher in multiparous women (95% vs. 89%; p = 0.016), while the percentage of lactocytes with the 326+73+ phenotype was significantly higher in primiparous women (3% vs. 0.7%; p = 0.035). A statistically significantly lower percentage of T helper and T cytotoxic lymphocytes was observed in the first-time mothers (20% vs. 30% respectively; p = 0.049 and 14% vs. 24% respectively; p = 0.006).</p><p><strong>Conclusions: </strong>Parity was associated with differences in breast milk composition.</p>","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144755204","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Predictors of Effective Breastfeeding in Newborns and 6-Week-Old Infants: Modifiable Pre-Feeding, Positioning and Latching-On Elements.","authors":"Anna Blair, Kajsa Brimdyr, Melissa Reyes, Kristin Svensson, Scovia N Mbalinda, Mike Kagawa, Louise R Bastarache, Livingstone Kamoga, Edwin Kigozi, Karin Cadwell","doi":"10.1111/apa.70261","DOIUrl":"https://doi.org/10.1111/apa.70261","url":null,"abstract":"<p><strong>Aim: </strong>Although breastfeeding assessment elements arise from compelling expert opinion, they have generally not been subject to rigorous evaluation. This project aimed to ascertain which elements, if any, are associated with effective breastfeeding and identify key modifiable findings for clinical practice.</p><p><strong>Methods: </strong>This observational descriptive study analysed the breastfeeding sessions of 300 newborns in the postpartum unit and 166 infants attending their 6-week young-child clinic visit, from January to February 2024 in a regional referral hospital in Masaka, Uganda using the Lactation Assessment & Comprehensive Intervention Tool (LAT). Effective breastfeeding was defined as 1 or 2 sucks to 1 swallow by cervical auscultation, and/or observed rocker jaw motion. Associations were analysed using Pearson's Chi-square test.</p><p><strong>Results: </strong>Nine elements were significantly related to effective breastfeeding: two pre-feeding behaviours (infant state, feeding cues); four positioning behaviours (tummy-to-mummy, arms around breast, breast not held or shaped, head free of restrictions) and three latching-on behaviours (gape, head tilt, lower lip reaches first). All but one, head free from restrictions, were also significant for 6-week-old babies.</p><p><strong>Conclusion: </strong>Key findings for clinical practice were identified including evidence for modifiable pre-feeding, positioning and latching-on behaviours, which were significantly associated with effective breastfeeding.</p>","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144755205","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Absence of Evidence of Beneficial Effects of Human Milk-Based Fortifier: A Bayesian Model-Averaged Meta-Analysis.","authors":"Maurice J Huizing, Giulia Vizzari, František Bartoš, Giacomo Cavallaro, Maria L Gianni, Eduardo Villamor","doi":"10.1111/apa.70260","DOIUrl":"https://doi.org/10.1111/apa.70260","url":null,"abstract":"<p><strong>Aim: </strong>Human milk-based fortifiers (HMBFs) have been adopted in neonatal care despite limited efficacy data. Our objective was to conduct a Bayesian re-analysis of the current evidence on the protective effect of HMBF against necrotising enterocolitis (NEC, stage II-III).</p><p><strong>Methods: </strong>We searched for randomised controlled trials (RCTs) comparing HMBF versus bovine milk-based fortifier (BMBF) in infants with gestational age < 32 weeks or birthweight < 1500 g. Bayesian model-averaged (BMA) meta-analysis was used to calculate Bayes factors (BFs). The BF₁₀ is the ratio of the probability of the data under the alternative hypothesis (H₁, presence of effect) over the probability of the data under the null hypothesis (H₀, absence of effect).</p><p><strong>Results: </strong>We included 3 RCTs (405 infants). The BMA analysis did not show conclusive evidence in favour of H₁ (BF₁₀ > 3) or in favour of H₀ (BF₁₀ < 1/3) for NEC (BF₁₀ = 0.86), mortality (BF₁₀ = 1.07), late onset sepsis (BF₁₀ = 0.69), bronchopulmonary dysplasia (BPD, BF₁₀ = 0.92), or severe retinopathy of prematurity (ROP, BF₁₀ = 0.75).</p><p><strong>Conclusions: </strong>The extant corpus of RCTs does not provide sufficient evidence to either confirm or exclude a potential effect of HMBF compared with BMBF on the risk of NEC, mortality, sepsis, BPD, or severe ROP.</p>","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144746119","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}