Pub Date : 2024-08-09DOI: 10.3390/children11080958
G. Paparella, Cristina Stragà, Nicola Pesenti, Valentina Dal Molin, G. A. Martorel, Vasco Merotto, Cristina Genova, Arianna Piazza, Giuseppe Piccoli, Elena Panzeri, A. Rufini, Roberto Testi, Andrea Martinuzzi
Background: A drug repositioning effort supported the possible use of the anti-HIV drug etravirine as a disease-modifying drug for Friedreich ataxia (FRDA). Etravirine increases frataxin protein and corrects the biochemical defects in cells derived from FRDA patients. Because of these findings, and since etravirine displays a favorable safety profile, we conducted a pilot open-label phase 2 clinical trial assessing the safety and potential efficacy of etravirine in FRDA patients. Methods: Thirty-five patients were stratified into three severity groups and randomized to etravirine 200 mg/day or 400 mg/day. They were treated for 4 months. Safety endpoints were the number and type of adverse events and number of dropouts. Efficacy endpoints were represented by changes in peak oxygen uptake and workload as measured by incremental exercise test, SARA score, cardiac measures, measures of QoL and disability. Data were collected 4 months before the start of the treatment (T − 4), at the start (T0), at the end (T4) and 4 months after the termination of the treatment (T + 4). Results: Etravirine was reasonably tolerated, and adverse events were generally mild. Four months of etravirine treatment did not significantly increase the peak oxygen uptake but was associated with a change in the progression of the SARA score (p value < 0.001), compared to the 4 months pre- and post-treatment. It also significantly increased peak workload (p value = 0.021). No changes in the cardiac measures were observed. Health and QoL measures showed a worsening at the suspension of the drug. Conclusions: In this open trial etravirine treatment was safe, reasonably well tolerated and appreciably improved neurological function and exercise performance. Even though a placebo effect cannot be ruled out, these results suggest that etravirine may represent a potential therapeutic agent in FRDA deserving testing in a randomized placebo-controlled clinical trial.
{"title":"A Pilot Phase 2 Randomized Trial to Evaluate the Safety and Potential Efficacy of Etravirine in Friedreich Ataxia Patients","authors":"G. Paparella, Cristina Stragà, Nicola Pesenti, Valentina Dal Molin, G. A. Martorel, Vasco Merotto, Cristina Genova, Arianna Piazza, Giuseppe Piccoli, Elena Panzeri, A. Rufini, Roberto Testi, Andrea Martinuzzi","doi":"10.3390/children11080958","DOIUrl":"https://doi.org/10.3390/children11080958","url":null,"abstract":"Background: A drug repositioning effort supported the possible use of the anti-HIV drug etravirine as a disease-modifying drug for Friedreich ataxia (FRDA). Etravirine increases frataxin protein and corrects the biochemical defects in cells derived from FRDA patients. Because of these findings, and since etravirine displays a favorable safety profile, we conducted a pilot open-label phase 2 clinical trial assessing the safety and potential efficacy of etravirine in FRDA patients. Methods: Thirty-five patients were stratified into three severity groups and randomized to etravirine 200 mg/day or 400 mg/day. They were treated for 4 months. Safety endpoints were the number and type of adverse events and number of dropouts. Efficacy endpoints were represented by changes in peak oxygen uptake and workload as measured by incremental exercise test, SARA score, cardiac measures, measures of QoL and disability. Data were collected 4 months before the start of the treatment (T − 4), at the start (T0), at the end (T4) and 4 months after the termination of the treatment (T + 4). Results: Etravirine was reasonably tolerated, and adverse events were generally mild. Four months of etravirine treatment did not significantly increase the peak oxygen uptake but was associated with a change in the progression of the SARA score (p value < 0.001), compared to the 4 months pre- and post-treatment. It also significantly increased peak workload (p value = 0.021). No changes in the cardiac measures were observed. Health and QoL measures showed a worsening at the suspension of the drug. Conclusions: In this open trial etravirine treatment was safe, reasonably well tolerated and appreciably improved neurological function and exercise performance. Even though a placebo effect cannot be ruled out, these results suggest that etravirine may represent a potential therapeutic agent in FRDA deserving testing in a randomized placebo-controlled clinical trial.","PeriodicalId":9854,"journal":{"name":"Children","volume":"7 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141921523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-08DOI: 10.3390/children11080957
Mateusz Zamłyński, Olena Zhemela, Anita Olejek
Fetal ventriculomegaly (VM) is a defect of the central nervous system, typically diagnosed during the second-trimester ultrasound in fetuses with an atrial diameter (AD) of >10 mm. Non-isolated ventriculomegaly (NIVM) is heterogeneous in nature, coexisting with additional intracranial and/or extracranial malformations and genetic syndromes, resulting in an unfavorable prognosis for the further development of the child. Both the pregnancy management and counseling are dependent on the findings of combined ultrasound/MRI, genetic testing, and gestational age at diagnosis. The purpose of this review is to propose a hypothesis that diagnostic advancements allow to define the process of identification of the isolated forms of VM (IVM). Based on the evidence presented in the literature, we consider whether prenatal decompression for severe isolated VM (ISVM) is supported by the experimental trials and whether it might be implemented in clinical practice. Also, we describe the evolution of the diagnostic methods and expert opinions about the previously used prenatal decompression techniques for ISVM. In conclusion, we introduce the idea that fetal surgery centers have either reached or nearly reached the necessary level of expertise to perform such procedures. Endoscopic cystoventriculostomy (ETV) appears to be the most promising, as it is associated with minimal perinatal complications and favorable neurological outcomes in the neonatal period. Randomized trials with long-term neurodevelopmental follow-up of children who underwent prenatal decompression due to ISVM are necessary.
胎儿脑室肥大（VM）是一种中枢神经系统缺陷，通常在胎儿心房直径（AD）大于 10 mm 时进行第二孕期超声诊断。非孤立性脑室肥大（NIVM）具有异质性，与其他颅内和/或颅外畸形及遗传综合征并存，对胎儿的进一步发育造成不利的预后。妊娠管理和咨询都取决于超声/MRI 联合检查的结果、基因检测和诊断时的胎龄。本综述的目的是提出一个假设，即诊断技术的进步有助于确定分离型葡萄胎（IVM）的鉴定过程。根据文献中提供的证据，我们考虑了产前减压治疗重度孤立型胎膜早破（ISVM）是否得到实验的支持，以及是否可以在临床实践中实施。此外，我们还介绍了诊断方法的演变，以及专家们对之前用于 ISVM 的产前减压技术的看法。总之，我们认为胎儿外科中心已经达到或接近达到实施此类手术所需的专业水平。内镜下膀胱脑室造口术（ETV）似乎最有前途，因为它的围产期并发症极少，且对新生儿期的神经系统预后有利。有必要对因 ISVM 而接受产前减压术的患儿进行长期神经发育随访的随机试验。
{"title":"Isolated Fetal Ventriculomegaly: Diagnosis and Treatment in the Prenatal Period","authors":"Mateusz Zamłyński, Olena Zhemela, Anita Olejek","doi":"10.3390/children11080957","DOIUrl":"https://doi.org/10.3390/children11080957","url":null,"abstract":"Fetal ventriculomegaly (VM) is a defect of the central nervous system, typically diagnosed during the second-trimester ultrasound in fetuses with an atrial diameter (AD) of >10 mm. Non-isolated ventriculomegaly (NIVM) is heterogeneous in nature, coexisting with additional intracranial and/or extracranial malformations and genetic syndromes, resulting in an unfavorable prognosis for the further development of the child. Both the pregnancy management and counseling are dependent on the findings of combined ultrasound/MRI, genetic testing, and gestational age at diagnosis. The purpose of this review is to propose a hypothesis that diagnostic advancements allow to define the process of identification of the isolated forms of VM (IVM). Based on the evidence presented in the literature, we consider whether prenatal decompression for severe isolated VM (ISVM) is supported by the experimental trials and whether it might be implemented in clinical practice. Also, we describe the evolution of the diagnostic methods and expert opinions about the previously used prenatal decompression techniques for ISVM. In conclusion, we introduce the idea that fetal surgery centers have either reached or nearly reached the necessary level of expertise to perform such procedures. Endoscopic cystoventriculostomy (ETV) appears to be the most promising, as it is associated with minimal perinatal complications and favorable neurological outcomes in the neonatal period. Randomized trials with long-term neurodevelopmental follow-up of children who underwent prenatal decompression due to ISVM are necessary.","PeriodicalId":9854,"journal":{"name":"Children","volume":"42 14","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141929408","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-08DOI: 10.3390/children11080956
M. C. Liverani, V. Siffredi, Greta Mikneviciute, Emma Mazza, R. Ha-Vinh Leuchter, Petra S Hüppi, C. Borradori Tolsa, Edouard Gentaz
Background/Objectives: Premature birth can lead to socio-emotional, behavioural and executive problems that impact quality of life and school performance in the long term. The aim of this pilot study was to evaluate the feasibility and efficacy of a 12-week computerised training called Vis-à-vis to enhance these competencies in a cohort of very preterm (VPT) children aged 6 to 9. Methods: This pilot randomised controlled trial included 45 children born before 32 gestational weeks. Socio-emotional, behavioural and executive competencies were evaluated at three time points using computerised tasks, neuropsychological tests and questionnaires. Results: Among the eligible VPT children, 20% (n = 45) accepted to be part of the study, and 40% (n = 18) dropped out. Finally, 60% (n = 27) of the enrolled participants completed the study. Results showed a significant improvement in emotion knowledge and recognition immediately after the completion of the training. Conclusions: Overall, our results indicate that the implementation of this type of computerised training is feasible, but the overall compliance is unsatisfactory given the high dropout rate. Nevertheless, the positive effect of the training on emotion recognition encourages further exploration of these kinds of interventions to prevent adverse consequences in children born too soon.
{"title":"“Vis-à-Vis Training” to Improve Emotional and Executive Competences in Very Preterm Children: A Pilot Study and Randomised Controlled Trial","authors":"M. C. Liverani, V. Siffredi, Greta Mikneviciute, Emma Mazza, R. Ha-Vinh Leuchter, Petra S Hüppi, C. Borradori Tolsa, Edouard Gentaz","doi":"10.3390/children11080956","DOIUrl":"https://doi.org/10.3390/children11080956","url":null,"abstract":"Background/Objectives: Premature birth can lead to socio-emotional, behavioural and executive problems that impact quality of life and school performance in the long term. The aim of this pilot study was to evaluate the feasibility and efficacy of a 12-week computerised training called Vis-à-vis to enhance these competencies in a cohort of very preterm (VPT) children aged 6 to 9. Methods: This pilot randomised controlled trial included 45 children born before 32 gestational weeks. Socio-emotional, behavioural and executive competencies were evaluated at three time points using computerised tasks, neuropsychological tests and questionnaires. Results: Among the eligible VPT children, 20% (n = 45) accepted to be part of the study, and 40% (n = 18) dropped out. Finally, 60% (n = 27) of the enrolled participants completed the study. Results showed a significant improvement in emotion knowledge and recognition immediately after the completion of the training. Conclusions: Overall, our results indicate that the implementation of this type of computerised training is feasible, but the overall compliance is unsatisfactory given the high dropout rate. Nevertheless, the positive effect of the training on emotion recognition encourages further exploration of these kinds of interventions to prevent adverse consequences in children born too soon.","PeriodicalId":9854,"journal":{"name":"Children","volume":"59 18","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141929147","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-26DOI: 10.3390/children11080900
A. Broutin, Jean-Pierre Salles, V. Porquet-Bordes, Thomas Edouard, Frédéric Vaysse, E. Noirrit-Esclassan
Background/Objectives: Osteogenesis imperfecta (OI) is a rare genetic disease that is responsible for bone fragility, but also for dental malocclusions and dentinogenesis imperfecta (DI). The aim of this study was to assess whether the severity of dental malocclusion influenced the oral health-related quality of life (OHRQoL) and exposure to bullying in a paediatric OI population compared with a control group. Methods: Dental and occlusal characteristics were noted during oral and radiographic examination. The severity of malocclusion was assessed using the PAR index. P-CPQ, COHIP(34), and BCS-A questionnaires were used to evaluate, respectively, externally and self-perceived OHRQoL and bullying. Results: We included 39 patients with a mean age of 11.3 (±4.8 SD) in the OI group, and 45 patients with a mean age of 12.3 (±3.2 SD) in the control group. There were no significant differences between the two groups in terms of occlusal vertical and transverse dimensions. Patients with severe OI, presenting with bone fractures, bones deformities, and short stature, had significantly more anterior (p < 0.05) and posterior openbites (p < 0.05) and more DI (p < 0.05) compared to patients who had moderate or mild OI. Self-perceived OHRQoL was negatively impacted by the disease (p = 0.01), particularly in the domains of oral health (p < 0.05) and self-image (p < 0.001), but not by its severity. Exposure to bullying did not differ significantly between the two groups, although more patients with OI reported being teased (21.4% face to face and 7.1% online vs. 14.6% and 2.4% in the control group). Conclusion: Interventions for dental malocclusion and oral health in OI patients would help to improve their quality of life and self-image.
背景/目的：成骨不全症（OI）是一种罕见的遗传疾病，不仅会导致骨质脆弱，还会导致牙齿错位和牙本质发育不全（DI）。本研究旨在评估与对照组相比，牙齿畸形的严重程度是否会影响口腔健康相关的生活质量（OHRQoL）以及儿童 OI 群体遭受欺凌的情况。研究方法在口腔和放射检查中记录牙齿和咬合特征。使用 PAR 指数评估咬合不正的严重程度。使用 P-CPQ、COHIP(34) 和 BCS-A 问卷分别评估外部和自我感觉的 OHRQoL 和受欺凌情况。研究结果我们在 OI 组中纳入了 39 名患者，平均年龄为 11.3 岁（±4.8 SD）；在对照组中纳入了 45 名患者，平均年龄为 12.3 岁（±3.2 SD）。两组患者在咬合垂直和横向尺寸方面无明显差异。与中度或轻度 OI 患者相比，出现骨折、骨骼畸形和身材矮小的重度 OI 患者的前方（p < 0.05）和后方开牙合（p < 0.05）以及 DI（p < 0.05）明显增多。口腔疾病（p = 0.01），尤其是口腔健康（p < 0.05）和自我形象（p < 0.001）方面，对自我感觉的健康和生活质量（OHRQoL）产生了负面影响，但与口腔疾病的严重程度无关。虽然有更多的口腔疾病患者表示曾被人取笑（21.4%的患者面对面取笑，7.1%的患者通过网络取笑，而对照组分别为14.6%和2.4%），但两组患者遭受欺凌的程度并无显著差异。结论对口腔畸形患者的牙齿咬合不正和口腔健康进行干预将有助于改善他们的生活质量和自我形象。
{"title":"Orofacial Features, Oral Health-Related Quality of Life, and Exposure to Bullying in Osteogenesis Imperfecta: A Cross-Sectional Study","authors":"A. Broutin, Jean-Pierre Salles, V. Porquet-Bordes, Thomas Edouard, Frédéric Vaysse, E. Noirrit-Esclassan","doi":"10.3390/children11080900","DOIUrl":"https://doi.org/10.3390/children11080900","url":null,"abstract":"Background/Objectives: Osteogenesis imperfecta (OI) is a rare genetic disease that is responsible for bone fragility, but also for dental malocclusions and dentinogenesis imperfecta (DI). The aim of this study was to assess whether the severity of dental malocclusion influenced the oral health-related quality of life (OHRQoL) and exposure to bullying in a paediatric OI population compared with a control group. Methods: Dental and occlusal characteristics were noted during oral and radiographic examination. The severity of malocclusion was assessed using the PAR index. P-CPQ, COHIP(34), and BCS-A questionnaires were used to evaluate, respectively, externally and self-perceived OHRQoL and bullying. Results: We included 39 patients with a mean age of 11.3 (±4.8 SD) in the OI group, and 45 patients with a mean age of 12.3 (±3.2 SD) in the control group. There were no significant differences between the two groups in terms of occlusal vertical and transverse dimensions. Patients with severe OI, presenting with bone fractures, bones deformities, and short stature, had significantly more anterior (p < 0.05) and posterior openbites (p < 0.05) and more DI (p < 0.05) compared to patients who had moderate or mild OI. Self-perceived OHRQoL was negatively impacted by the disease (p = 0.01), particularly in the domains of oral health (p < 0.05) and self-image (p < 0.001), but not by its severity. Exposure to bullying did not differ significantly between the two groups, although more patients with OI reported being teased (21.4% face to face and 7.1% online vs. 14.6% and 2.4% in the control group). Conclusion: Interventions for dental malocclusion and oral health in OI patients would help to improve their quality of life and self-image.","PeriodicalId":9854,"journal":{"name":"Children","volume":"44 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141799017","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-26DOI: 10.3390/children11080898
B. Singu, Roger Karel Verbeeck, Clarissa Hildegard Pieper, Ene I. Ette
(1) Background: Gentamicin is known to be nephrotoxic and ototoxic. Although gentamicin dosage guidelines have been established for preterm and term neonates, reports do show attainment of recommended peak concentrations but toxic gentamicin concentrations are common in this age group. (2) Methods: This was a prospective, observational study conducted in Namibia with 52 neonates. A dose of 5 mg/kg gentamicin was administered over 3–5 s every 24 h in combination with benzylpenicillin 100,000 IU/kg/12 h or ampicillin 50 mg/kg/8 h. Two blood samples were collected from each participant using a truncated pharmacokinetic sampling schedule. (3) Results: The one-compartment linear pharmacokinetic model best described the data. Birthweight, postnatal age, and white blood cell count were predictive of clearance (CL), while birthweight was predictive of volume (V). For the typical neonate (median weight 1.57 kg, median postnatal age 4 days (0.011 years), median log-transformed WBC of 2.39), predicted CL and V were 0.069 L/h and 0.417 L, respectively—similar to literature values. Simulated gentamicin concentrations varied with respect to postnatal age and bodyweight. (4) Conclusions: A 5 mg/kg/24 h dosage regimen yielded simulated gentamicin concentrations with respect to age and birthweight similar to those previously reported in the literature to be safe and efficacious, confirming its appropriateness.
{"title":"Confirming the Suitability of a Gentamicin Dosing Strategy in Neonates Using the Population Pharmacokinetic Approach with Truncated Sampling Duration","authors":"B. Singu, Roger Karel Verbeeck, Clarissa Hildegard Pieper, Ene I. Ette","doi":"10.3390/children11080898","DOIUrl":"https://doi.org/10.3390/children11080898","url":null,"abstract":"(1) Background: Gentamicin is known to be nephrotoxic and ototoxic. Although gentamicin dosage guidelines have been established for preterm and term neonates, reports do show attainment of recommended peak concentrations but toxic gentamicin concentrations are common in this age group. (2) Methods: This was a prospective, observational study conducted in Namibia with 52 neonates. A dose of 5 mg/kg gentamicin was administered over 3–5 s every 24 h in combination with benzylpenicillin 100,000 IU/kg/12 h or ampicillin 50 mg/kg/8 h. Two blood samples were collected from each participant using a truncated pharmacokinetic sampling schedule. (3) Results: The one-compartment linear pharmacokinetic model best described the data. Birthweight, postnatal age, and white blood cell count were predictive of clearance (CL), while birthweight was predictive of volume (V). For the typical neonate (median weight 1.57 kg, median postnatal age 4 days (0.011 years), median log-transformed WBC of 2.39), predicted CL and V were 0.069 L/h and 0.417 L, respectively—similar to literature values. Simulated gentamicin concentrations varied with respect to postnatal age and bodyweight. (4) Conclusions: A 5 mg/kg/24 h dosage regimen yielded simulated gentamicin concentrations with respect to age and birthweight similar to those previously reported in the literature to be safe and efficacious, confirming its appropriateness.","PeriodicalId":9854,"journal":{"name":"Children","volume":"7 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141799167","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-26DOI: 10.3390/children11080901
K. Wilkinson, Vashti Berry, Jenny Lloyd, Georgina Marks, Iain Lang
Background: Community champions have been employed across various settings to disseminate evidence-based public health information. The Building Babies’ Brains programme trains champions to work with parents in communities, equipping them with child development knowledge and parental engagement strategies. We explored what makes community champions effective in distributing information to parents, including how the champion–parent relationship and champions’ personal characteristics affect information dissemination. Methods: Champions included both peers and professionals working with parents in target communities. We administered an online survey (n = 53) and follow-up interviews (n = 14) with champions, with representation from across all training cohorts. We conducted a realist-informed reflexive thematic analysis to generate themes in the data and highlight the contexts, mechanisms, and outcome patterns identified. Results: We observed 15 Context–Mechanism–Outcome configurations across five themes: information sharing opportunities, information relevance, the nature of the champion–parent relationship, interaction expectations, and champion confidence. Our programme theory for how the community champion approach works identified that peer champions focused more on building rapport, modelling behaviours, and being a trusted community resource than direct information transfer. Professional champions, in contrast, showed greater expertise and confidence in discussing parenting practices directly. For both groups, traits such as friendliness and the ability to establish a trusting relationship enhanced effectiveness. Conclusions: This research identifies the impacts of champion role, characteristics, and the champion–parent relationship on the effectiveness of knowledge mobilisation in this context, with implications for training and recruitment of champions. Those using a champion model in comparable settings should ensure that champions have the necessary knowledge, skills, and confidence to engage parents and share information effectively.
{"title":"Understanding Knowledge Mobilisation between Community Champions and Parents: Evidence from a Community-Based Programme to Support Parents with Young Children","authors":"K. Wilkinson, Vashti Berry, Jenny Lloyd, Georgina Marks, Iain Lang","doi":"10.3390/children11080901","DOIUrl":"https://doi.org/10.3390/children11080901","url":null,"abstract":"Background: Community champions have been employed across various settings to disseminate evidence-based public health information. The Building Babies’ Brains programme trains champions to work with parents in communities, equipping them with child development knowledge and parental engagement strategies. We explored what makes community champions effective in distributing information to parents, including how the champion–parent relationship and champions’ personal characteristics affect information dissemination. Methods: Champions included both peers and professionals working with parents in target communities. We administered an online survey (n = 53) and follow-up interviews (n = 14) with champions, with representation from across all training cohorts. We conducted a realist-informed reflexive thematic analysis to generate themes in the data and highlight the contexts, mechanisms, and outcome patterns identified. Results: We observed 15 Context–Mechanism–Outcome configurations across five themes: information sharing opportunities, information relevance, the nature of the champion–parent relationship, interaction expectations, and champion confidence. Our programme theory for how the community champion approach works identified that peer champions focused more on building rapport, modelling behaviours, and being a trusted community resource than direct information transfer. Professional champions, in contrast, showed greater expertise and confidence in discussing parenting practices directly. For both groups, traits such as friendliness and the ability to establish a trusting relationship enhanced effectiveness. Conclusions: This research identifies the impacts of champion role, characteristics, and the champion–parent relationship on the effectiveness of knowledge mobilisation in this context, with implications for training and recruitment of champions. Those using a champion model in comparable settings should ensure that champions have the necessary knowledge, skills, and confidence to engage parents and share information effectively.","PeriodicalId":9854,"journal":{"name":"Children","volume":"32 43","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141800513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-26DOI: 10.3390/children11080897
Yinmo Jiang, Bingbing Wu, Xi Zhang, Lin Yang, Sujuan Wang, Huiping Li, Shuizhen Zhou, Yanyan Qian, Huijun Wang
Background: Neurodevelopmental disorders (NDDs) are a group of diseases that severely affect the physical and mental health of children. The PPP2R5D gene encodes B56δ, the regulatory subunit of protein phosphatase 2A (PP2A). NDDs related to the PPP2R5D gene have recently been defined as Houge–Janssens syndrome 1. Methods: Clinical/whole exome sequencing was performed on approximately 3000 patients with NDDs from 2017 to 2023. In vitro experiments were performed to assess the impairment of variants to protein expression and the assembly of PP2A holoenzyme. The genetic information and phenotypes of the reported patients, as well as patients in this study, were summarized, and the genotype–phenotype relationship was analyzed. The probability of pathogenic missense variants in PPP2R5D was predicted using AlphaMissense (AM), and the relationship between certain phenotype and 3D protein structural features were analyzed. Results: Thirteen new patients carrying twelve PPP2R5D gene variants were detected, including five novel missense variants and one novel frameshift variant. In vitro experiments revealed that the frameshift variant p.H463Mfs*3 resulted in a ~50 kDa truncated protein with lower expression level. Except for E420K and T536R, other missense variants impaired holoenzyme assembly. Furthermore, we found that pathogenic/likely pathogenic (P/LP) variants that have been reported so far were all missense variants and clustered in three conserved regions, and the likelihood of P/LP mutations located in these conserved regions was extremely high. In addition, the macrocephaly phenotype was related to negatively charged residues involved in substrate recruitment. Conclusions: We reported thirteen new patients with PPP2R5D gene variants and expanded the PPP2R5D variant spectrum. We confirmed the pathogenicity of novel variants through in vitro experiments. Our findings in genotype–phenotype relationship provide inspiration for genetic counseling and interpretation of variants. We also provide directions for further research on the mechanism of macrocephaly phenotype.
{"title":"Thirteen New Patients of PPP2R5D Gene Mutation and the Fine Profile of Genotype–Phenotype Correlation Unraveling the Pathogenic Mechanism Underlying Macrocephaly Phenotype","authors":"Yinmo Jiang, Bingbing Wu, Xi Zhang, Lin Yang, Sujuan Wang, Huiping Li, Shuizhen Zhou, Yanyan Qian, Huijun Wang","doi":"10.3390/children11080897","DOIUrl":"https://doi.org/10.3390/children11080897","url":null,"abstract":"Background: Neurodevelopmental disorders (NDDs) are a group of diseases that severely affect the physical and mental health of children. The PPP2R5D gene encodes B56δ, the regulatory subunit of protein phosphatase 2A (PP2A). NDDs related to the PPP2R5D gene have recently been defined as Houge–Janssens syndrome 1. Methods: Clinical/whole exome sequencing was performed on approximately 3000 patients with NDDs from 2017 to 2023. In vitro experiments were performed to assess the impairment of variants to protein expression and the assembly of PP2A holoenzyme. The genetic information and phenotypes of the reported patients, as well as patients in this study, were summarized, and the genotype–phenotype relationship was analyzed. The probability of pathogenic missense variants in PPP2R5D was predicted using AlphaMissense (AM), and the relationship between certain phenotype and 3D protein structural features were analyzed. Results: Thirteen new patients carrying twelve PPP2R5D gene variants were detected, including five novel missense variants and one novel frameshift variant. In vitro experiments revealed that the frameshift variant p.H463Mfs*3 resulted in a ~50 kDa truncated protein with lower expression level. Except for E420K and T536R, other missense variants impaired holoenzyme assembly. Furthermore, we found that pathogenic/likely pathogenic (P/LP) variants that have been reported so far were all missense variants and clustered in three conserved regions, and the likelihood of P/LP mutations located in these conserved regions was extremely high. In addition, the macrocephaly phenotype was related to negatively charged residues involved in substrate recruitment. Conclusions: We reported thirteen new patients with PPP2R5D gene variants and expanded the PPP2R5D variant spectrum. We confirmed the pathogenicity of novel variants through in vitro experiments. Our findings in genotype–phenotype relationship provide inspiration for genetic counseling and interpretation of variants. We also provide directions for further research on the mechanism of macrocephaly phenotype.","PeriodicalId":9854,"journal":{"name":"Children","volume":"5 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141801143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-26DOI: 10.3390/children11080903
Maria Tzitiridou-Chatzopoulou, Georgia Zournatzidou, Eirini Orovou, M. Lithoxopoulou, Eftychia Drogouti, George Sklavos, E. Antoniou, Christos Tsakalidis
Background/Objectives: Failure to thrive (FTT) is mostly caused by insufficient consumption of nutrient-rich food, recurrent infections like diarrhea and intestinal worms, substandard caregiving practices, and limited availability of health and other vital services. Furthermore, there was a correlation between the educational level of mothers and the occurrence of FTT in children aged 6–12 months. Thus, the objective of the current research is twofold: (i) to investigate other factors related to FTT and (ii) to evaluate the impact of them on FTT in Sub-Saharan African countries and their urban areas. Methods: We used weight entropy and TOPSIS methods to approach the research question. In particular, the entropy-weight method is effective for precisely evaluating the relative significance of the selected criteria for TOPSIS computation. Thus, data were retrieved from the database of UNICEF for the year 2019 for nine Sub-Saharan countries, and based on the methods used, five criteria have been selected for consideration. Those of mothers in higher education were identified as having a higher weight, which means that this can affect positively the ability of mothers to mitigate the situation of FTT and protect their children. Results: The findings of the study highlight the factors of maternal education at a higher level and unhealthy habits as those with the greatest weight and impact on the FTT. Moreover, the results indicate that the association between maternal education, and especially higher education, and FTT is stronger in Ethiopia. Despite the limited amount of research on the specified relationship in Sub-Saharan countries, this study is among the initial ones to examine it. Conclusions: The current study can aid policymakers in devising appropriate policies and implementing effective measures to tackle FTT in Sub-Saharan Africa, like enhancing the number of mothers in these countries to be integrated into the educational system to help both themselves and their children mitigate or avoid the symptoms of FTT.
{"title":"Evaluating Malnutrition Practices and Mother’s Education on Children Failure to Thrive Symptoms Using Entropy-Weight and TOPSIS Method","authors":"Maria Tzitiridou-Chatzopoulou, Georgia Zournatzidou, Eirini Orovou, M. Lithoxopoulou, Eftychia Drogouti, George Sklavos, E. Antoniou, Christos Tsakalidis","doi":"10.3390/children11080903","DOIUrl":"https://doi.org/10.3390/children11080903","url":null,"abstract":"Background/Objectives: Failure to thrive (FTT) is mostly caused by insufficient consumption of nutrient-rich food, recurrent infections like diarrhea and intestinal worms, substandard caregiving practices, and limited availability of health and other vital services. Furthermore, there was a correlation between the educational level of mothers and the occurrence of FTT in children aged 6–12 months. Thus, the objective of the current research is twofold: (i) to investigate other factors related to FTT and (ii) to evaluate the impact of them on FTT in Sub-Saharan African countries and their urban areas. Methods: We used weight entropy and TOPSIS methods to approach the research question. In particular, the entropy-weight method is effective for precisely evaluating the relative significance of the selected criteria for TOPSIS computation. Thus, data were retrieved from the database of UNICEF for the year 2019 for nine Sub-Saharan countries, and based on the methods used, five criteria have been selected for consideration. Those of mothers in higher education were identified as having a higher weight, which means that this can affect positively the ability of mothers to mitigate the situation of FTT and protect their children. Results: The findings of the study highlight the factors of maternal education at a higher level and unhealthy habits as those with the greatest weight and impact on the FTT. Moreover, the results indicate that the association between maternal education, and especially higher education, and FTT is stronger in Ethiopia. Despite the limited amount of research on the specified relationship in Sub-Saharan countries, this study is among the initial ones to examine it. Conclusions: The current study can aid policymakers in devising appropriate policies and implementing effective measures to tackle FTT in Sub-Saharan Africa, like enhancing the number of mothers in these countries to be integrated into the educational system to help both themselves and their children mitigate or avoid the symptoms of FTT.","PeriodicalId":9854,"journal":{"name":"Children","volume":"14 16","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141800985","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-26DOI: 10.3390/children11080899
Masanori Yasunaga, H. Miyaguchi, Chinami Ishizuki, Yosuke Kita, Akio Nakai
Background: Motor skills have been linked to executive functions (EFs) in children with developmental coordination disorder (DCD). However, the traits of other neurodevelopmental disorders (NDDs), such as attention-deficit/hyperactivity disorder and autism spectrum disorder, remain overlooked. Therefore, this study explored the association between motor skills, occupational performance, and mental health in older kindergarten children with DCD and other NDDs. Overall, 95 participants aged 5–6 years were included in this study and divided into four groups: DCD traits (DCD-t), DCD-t + NDD traits (DCD-t + NDD-t), NDD-t-only, and typically developing children. Motor skills, EFs, and mental health were assessed using the DCD Questionnaire (DCDQ-J) and Movement Assessment Battery for Children—Second Edition, School Assessment of Motor and Process Skills (S-AMPS), and the Strengths and Difficulties Questionnaire (SDQ), respectively. The DCD-t + NDD-t group exhibited a strong correlation between the S-AMPS motor skill score and the DCDQ-J fine motor skill score (r = 0.88, p < 0.001) and between the total DCDQ-J score and the SDQ Total Difficulties Score (r = −0.94, p < 0.001). The findings indicate that children with DCD-t and NDD-t are more likely to experience EF and mental health problems than those with DCD-t only.
{"title":"Association between Motor Skills, Occupational Performance, and Mental Health in Japanese Children with Neurodevelopmental Disorders: A Cross-Sectional Correlational Study","authors":"Masanori Yasunaga, H. Miyaguchi, Chinami Ishizuki, Yosuke Kita, Akio Nakai","doi":"10.3390/children11080899","DOIUrl":"https://doi.org/10.3390/children11080899","url":null,"abstract":"Background: Motor skills have been linked to executive functions (EFs) in children with developmental coordination disorder (DCD). However, the traits of other neurodevelopmental disorders (NDDs), such as attention-deficit/hyperactivity disorder and autism spectrum disorder, remain overlooked. Therefore, this study explored the association between motor skills, occupational performance, and mental health in older kindergarten children with DCD and other NDDs. Overall, 95 participants aged 5–6 years were included in this study and divided into four groups: DCD traits (DCD-t), DCD-t + NDD traits (DCD-t + NDD-t), NDD-t-only, and typically developing children. Motor skills, EFs, and mental health were assessed using the DCD Questionnaire (DCDQ-J) and Movement Assessment Battery for Children—Second Edition, School Assessment of Motor and Process Skills (S-AMPS), and the Strengths and Difficulties Questionnaire (SDQ), respectively. The DCD-t + NDD-t group exhibited a strong correlation between the S-AMPS motor skill score and the DCDQ-J fine motor skill score (r = 0.88, p < 0.001) and between the total DCDQ-J score and the SDQ Total Difficulties Score (r = −0.94, p < 0.001). The findings indicate that children with DCD-t and NDD-t are more likely to experience EF and mental health problems than those with DCD-t only.","PeriodicalId":9854,"journal":{"name":"Children","volume":"54 17","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141799683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-26DOI: 10.3390/children11080902
Gulzar H Shah, Maryam Siddiqa, Padmini Shankar, I. Karibayeva, Amber Zubair, Bushra Shah
Background: This study examines the levels and predictors of malnutrition in Indian children under 5 years of age. Methods: Composite Index of Anthropometric Failure was applied to data from the India National Family Health Survey 2019–2021. A multivariable logistic regression model was used to assess the predictors. Results: 52.59% of children experienced anthropometric failure. Child predictors of lower malnutrition risk included female gender (adjusted odds ratio (AOR) = 0.881) and average or large size at birth (AOR = 0.729 and 0.715, respectively, compared to small size). Higher birth order increased malnutrition odds (2nd-4th: AOR = 1.211; 5th or higher: AOR = 1.449) compared to firstborn. Maternal predictors of lower malnutrition risk included age 20–34 years (AOR = 0.806), age 35–49 years (AOR = 0.714) compared to 15–19 years, normal BMI (AOR = 0.752), overweight and obese BMI (AOR = 0.504) compared to underweight, and secondary or higher education vs. no education (AOR = 0.865). Maternal predictors of higher malnutrition risk included severe anemia vs. no anemia (AOR = 1.232). Protective socioeconomic factors included middle (AOR = 0.903) and rich wealth index (AOR = 0.717) compared to poor, and toilet access (AOR = 0.803). Children’s malnutrition risk also declined with paternal education (primary: AOR = 0.901; secondary or higher: AOR = 0.822) vs. no education. Conversely, malnutrition risk increased with Hindu (AOR = 1.258) or Islam religion (AOR = 1.369) vs. other religions. Conclusions: Child malnutrition remains a critical issue in India, necessitating concerted efforts from both private and public sectors. A ‘Health in All Policies’ approach should guide public health leadership in influencing policies that impact children’s nutritional status.
{"title":"Decoding India’s Child Malnutrition Puzzle: A Multivariable Analysis Using a Composite Index","authors":"Gulzar H Shah, Maryam Siddiqa, Padmini Shankar, I. Karibayeva, Amber Zubair, Bushra Shah","doi":"10.3390/children11080902","DOIUrl":"https://doi.org/10.3390/children11080902","url":null,"abstract":"Background: This study examines the levels and predictors of malnutrition in Indian children under 5 years of age. Methods: Composite Index of Anthropometric Failure was applied to data from the India National Family Health Survey 2019–2021. A multivariable logistic regression model was used to assess the predictors. Results: 52.59% of children experienced anthropometric failure. Child predictors of lower malnutrition risk included female gender (adjusted odds ratio (AOR) = 0.881) and average or large size at birth (AOR = 0.729 and 0.715, respectively, compared to small size). Higher birth order increased malnutrition odds (2nd-4th: AOR = 1.211; 5th or higher: AOR = 1.449) compared to firstborn. Maternal predictors of lower malnutrition risk included age 20–34 years (AOR = 0.806), age 35–49 years (AOR = 0.714) compared to 15–19 years, normal BMI (AOR = 0.752), overweight and obese BMI (AOR = 0.504) compared to underweight, and secondary or higher education vs. no education (AOR = 0.865). Maternal predictors of higher malnutrition risk included severe anemia vs. no anemia (AOR = 1.232). Protective socioeconomic factors included middle (AOR = 0.903) and rich wealth index (AOR = 0.717) compared to poor, and toilet access (AOR = 0.803). Children’s malnutrition risk also declined with paternal education (primary: AOR = 0.901; secondary or higher: AOR = 0.822) vs. no education. Conversely, malnutrition risk increased with Hindu (AOR = 1.258) or Islam religion (AOR = 1.369) vs. other religions. Conclusions: Child malnutrition remains a critical issue in India, necessitating concerted efforts from both private and public sectors. A ‘Health in All Policies’ approach should guide public health leadership in influencing policies that impact children’s nutritional status.","PeriodicalId":9854,"journal":{"name":"Children","volume":"19 16","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141800888","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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