BMJ Paediatrics Open最新文献

Background: X-linked hypophosphataemia (XLH) is a rare inherited disorder often misdiagnosed and lacking sufficient aetiological treatment. Previous studies have shown that XLH is associated with worse health-related quality of life (HRQoL) and greater economic burden for children and their families compared with the general population, but evidence from China is scarce. This study aimed to comprehensively explore the burden and HRQoL of XLH children in China.

Methods: An online retrospective survey of paediatric patients with XLH and their caregivers was conducted nationwide during March to June 2021. A self-administered questionnaire was used to collect socio-demographic, clinical and economic data. The EQ-5D-Y-3L instrument was employed to assess HRQoL, and the health utility score was calculated. Direct medical, non-medical and indirect costs were determined. Multivariate regression analysis was performed to explore potential associations between HRQoL and identified influencing factors.

Results: The study included 221 subjects with a mean age of 7.25 years, of whom 119 (53.8%) were girls. Most XLH children (63.8%) lived in rural areas, and 39.4% reported a family history. Over 70% experienced misdiagnosis. The average total annual cost per patient was found to be 34 657.85 CNY. Of direct medical costs, patients' out-of-pocket expenses were substantial. The incidence of catastrophic health expenditure was 19.9%. The means (SD) of EQ-5D-Y-3L health utility and EQ-5D VAS scores were 0.83 (0.14) and 56.07 (10.95). Both univariate and multivariate analyses found older age and lower economic affordability were associated with poorer HRQoL.

Conclusions: The study underscores the significant burden of XLH on paediatric patients and their families in China, both in terms of HRQoL and economic costs. The findings emphasise the importance of early detection, accurate diagnosis, cost-effective targeted interventions and long-term multidisciplinary management strategies to improve the lives of XLH children and their families.

Objective: To analyse early risk factors for mortality in preterm infants treated with inhaled nitric oxide (iNO) in China.

Design: A retrospective observational case-control study.

Setting: 8 tertiary hospitals in 5 regions of China.

Patients: 726 preterm infants treated with iNO for hypoxic respiratory failure or persistent pulmonary hypertension of newborns.

Interventions: None.

Measurements: The primary outcome was survival status at discharge.

Main results: (1) The mortality rate was 27.1% (197/726), and which significantly reduced with increasing gestational age (GA) and birth weight. (2) Compared with the survival group, the death group had significantly greater use of assisted reproductive technology, higher multiple pregnancy rates and lower caesarean section rates. Infants in the death group had a significantly higher incidence of small for GA (SGA), Apgar score ≤3 at 1 min after birth, pneumorrhagia, sepsis and shock. In the death group, the utilisation rate of a pulmonary surfactant (PS) was significantly lower, whereas the oxygenation index (OI) before iNO treatment was significantly higher. The maximum dose of iNO in the death group was significantly higher than that in the survival group. (3) The Cox proportional hazard model showed that SGA (HR 1.800, 95% CI (1.113 to 2.911)), sepsis (HR 1.488, 95% CI (1.093 to 2.027)), shock (HR 1.473, 95% CI (1.033 to 2.100)), OI before iNO treatment (HR 1.016, 95% CI (1.006 to 1.026)) and the maximum dose of iNO treatment (HR 1.070, 95% CI (1.035 to 1.105)) were risk factors for death in preterm infants treated with iNO. Furthermore, GA (HR 0.876, 95% CI (0.831 to 0.924)), PS (HR 0.433, 95% CI (0.296 to 0.633)) and a higher initial dose of iNO (HR 0.926, 95% CI (0.891 to 0.962)) were identified as protective factors. (4) Stratified analysis and sensitivity analysis determined the stability of the core results in preterm infants with GA between 28 and 36⁺⁶ weeks.

Conclusion: Premature infants treated with iNO had a high mortality rate. SGA, sepsis, shock and higher OI before iNO treatment increased the mortality risk in infants with GA between 28 and 36⁺⁶ weeks. A higher GA the use of PS, and a higher initial iNO dose could improve the survival outcome of these babies.

Trial registration number: The study was registered in the Chinese Clinical Trials Registry (http://www.chictr.org.cn; registration number: ChiCTR2200066935).

Background: A key target of the 2030 Sustainable Development Goals is to eliminate preventable deaths in newborns and children under 5. This study aimed to estimate the effect of time of birth on early neonatal mortality (ENM) and low Apgar scores at 5 min (LA5) in newborns.

Methods: A retrospective cohort study was conducted using vital statistics data on live births, maternal morbidity, congenital defects and perinatal mortality in Cauca-Colombia (2017-2021) excluding out-of-hospital, multiple and major defect cases. A directed acyclic graph was constructed to define the confounder adjustment set. Multivariable logistic, linear and propensity score models evaluated the effect of birth timing on neonatal outcomes, estimating crude and adjusted incidence rate ratios (IRRa).

Results: We assessed 65 182 live births, finding similar baseline characteristics for daytime and night-time births. ENM was 0.2% (95% CI 0.19% to 0.26%) at 7 days of follow-up, absolute mortality difference 0.1% (95% CI -0.01% to 0.12%). Night-time births increased the incidence of ENM in the primary analysis IRRa 1.27 (95% CI 0.90 to 1.82), in the secondary IRRa 1.45 (95% CI 0.94 to 2.20), and in the primary and secondary sensitivity analysis, respectively, IRRa 1.48 (95% CI 1.06 to 2.07) and 1.70 (95% CI 1.16 to 2.59). LA5 was present in 0.7% (95% CI 0.60% to 0.72%) of birth, with absolute LA5 difference 0.1% (95% CI -0.02% to 0.22%). Night-time births increased the incidence of LA5 in the primary analysis IRRa 1.31 (95% CI 1.00 to 1.49), in the secondary IRRa 1.44 (95% CI 1.13 to 1.83), and in the primary and secondary sensitivity analysis, respectively, IRRa 1.31 (95% CI 1.08 to 1.59) and IRRa 1.54 (95% CI 1.23 to 1.92).

Conclusions: Birth at night-time is associated with worse neonatal outcomes, ENM and low Apgar scores in Colombia's diverse population, highlighting the need for optimised prenatal care, revised work schedules and improved referral systems in maternal health.

We conducted a retrospective observational study of all transports conducted by our national neonatal transport service to estimate direct carbon emissions produced by the service in a 1 year time period. We investigated all parts of the journey for 501 transports-from 27 referring units to 15 receiving units. These transports covered a total of 110 305.4 km. As our vehicles report carbon emissions of 293-327 g/km, over the study period between 32.3 and 36.1 metric tonnes of carbon were directly produced by our neonatal transport service. Our carbon impact could be mitigated by the utilisation of alternative fuels, including hydrotreated vegetable oil.

Background: In vitro fertilisation (IVF) offers a solution for infertility but poses increased obstetrical and perinatal risks, including higher rates of preterm birth, low birth weight and congenital anomalies. Particularly, IVF-related multiple pregnancies face significantly higher risks for preterm birth and prolonged hospital stays. This study compares neonatal outcomes between IVF and natural conception, as well as between singleton and IVF-related multiple pregnancies over the past decade.

Method: This retrospective study reviewed the medical records of babies born at Cipto Mangunkusumo Kencana Hospital from 2013 to 2023. Neonatal morbidities (hypothermia, hypoglycaemia, respiratory distress, circulation problems, sepsis, congenital anomalies, all stages of intraventricular haemorrhage and retinopathy of prematurity of all babies, neonatal intensive care unit (NICU) admission and length of stay) were dependent variables, with the mode of conception as the independent variable.

Result: Of 609 subjects, 169 were IVF conceptions and 435 natural conceptions. The IVF group had higher rates of prematurity (27.8% vs 10.8%, p<0.001), multiple conceptions (37.9% vs 7.4%, p<0.001) and older maternal age (35 vs 30 years, p<0.001). Prematurity in the IVF group had an increased rate of respiratory distress (18.9% vs 12.6%, p=0.05), higher NICU admission rates (13.6% vs 3.2%, p<0.001) and longer hospital stays.

Conclusion: IVF pregnancies had higher risks of prematurity and respiratory distress, necessitating personalised antenatal care and close monitoring to optimise neonatal outcomes.

Introduction: Neonatal sepsis remains a leading cause of morbidity and mortality across all healthcare systems. Acute kidney injury (AKI) is common in neonates and is associated with poor clinical outcomes. We sought to profile the incidence of AKI in infants with culture-positive bacteraemia and to assess the utility of the neonatal sequential organ failure (nSOFA) tool in AKI prediction.

Methods: A single-centre retrospective review of infants with culture-positive bacteraemia was performed at the Rotunda Hospital, Dublin, Ireland. Clinical, demographic and biochemical data were collated, with the modified neonatal Kidney Disease: Improving Global Outcomes (KDIGO) criteria and nSOFA scoring applied to each included patient.

Results: Our cohort of n=35 patients with culture-positive bacteraemia had an AKI incidence of 48.6%. There was no statistically significant association between peak nSOFA and the development of AKI.

Conclusion: The incidence of AKI in late-onset neonatal clinically significant bacteraemia is high. nSOFA within 24 hours of culture has poor utility in predicting acute kidney injury in neonatal patients with culture-positive bacteraemia.

Background: Telemedicine in neonatal care (TeleNeonatology) has the potential to improve neonatal outcomes, address capacity challenges and influence the emotional burden on parents. TeleNeonatology allows for real-time audiovisual communication between healthcare providers at different neonatal intensive care units (NICUs). Despite the high potential for multiple neonatal use-cases, TeleNeonatology is primarily being used for neonatal resuscitation and has yet to be widely implemented in Europe. Our study aims to evaluate both implementation strategies and effectiveness of TeleNeonatology in a pilot study in The Netherlands.

Methods: A pre-post implementation study with hybrid type III design will be conducted from 1 January 2023 to 31 December 2024. The year 2023 will serve as a baseline period pre-implementation. From 1 January 2024, a TeleNeonatology device will be integrated within all communication between the NICU-level IV of the Erasmus MC hospital and the NICU-level II at Amphia Hospital. Outcomes of the implementation of the TeleNeo programme will be evaluated using a mixed-methods approach evaluating implementation outcomes, service outcomes and client outcomes. Feasibility, the primary implementation outcome, will be evaluated via a validated questionnaire for parents and personnel. Secondary implementation outcomes will be barriers and facilitators of implementation, based on semi-structured interviews and focus groups. A cost minimisation analysis, using decision trees, will be evaluated as service outcomes. Client outcomes will be assessed via parent-reported transfer experience questionnaires and interviews and the clinical outcomes NICU-level III transfer rate and length of stay.

Ethics and dissemination: This study was reviewed by the Medical Ethical Committee of the Erasmus Medical Centre, who confirmed that the rules laid down in the Medical Research Involving Human Subjects Act do not apply (identification number: MEC-2023-0561). Results will be published in peer-reviewed journals in two separate scientific articles: the primary evaluation and the cost evaluation.

Objective: To explore the experiences and perceptions of parents and professionals of a hospital-inpatient service for children with medical complexity (CMC).

Design: Semi-structured qualitative interviews with parents of CMC and healthcare professionals from one hospital site in England. Data were analysed using thematic analysis.

Findings: Nine parents and 15 healthcare professionals participated. Two overarching themes were developed: (1) The service is an anchor for families and professionals and (2) The service is not a panacea. Participants valued the single point of contact for families and professionals involved in the child's care during hospital stays. Families felt heard, supported and involved in their child's care with the holistic needs of the child and family centre stage. Unclear boundaries around the role of the service and limited capacity of the team were key challenges. Professionals and families described a cliff edge for many families post hospital discharge.

Conclusion: A hospital-inpatient service for CMC can improve care coordination and discharge planning and help build strong relationships with parents so that they feel listened to and supported. Holistic services like this need clear boundaries and remits, as there is danger of 'mission creep'. A hospital-inpatient service should not be seen as a panacea for meeting all the needs of CMC and their families. It is critical to understand how the service integrates with the wider health and care system.

Background: As a first-line therapeutic option for multisystem inflammatory syndrome in children (MIS-C) with surging demand, intravenous immunoglobulin (IVIG) is associated with escalating costs and supply shortages, particularly in low-income and middle-income countries. This study compares the effectiveness of methylprednisolone alone versus IVIG combined with methylprednisolone for managing MIS-C.

Methods: We conducted a retrospective cohort study from January 2022 to June 2023 at Vietnam National Children's Hospital. We used propensity score matching to compare the short-term outcomes based on immunomodulatory therapy with methylprednisolone alone or IVIG plus methylprednisolone.

Results: We included 391 patients, comprising 255 boys and 136 girls, who fulfilled the MIS-C case definition of the US Centers for Disease Control and Prevention. Most patients (80.8%) received intravenous methylprednisolone monotherapy, and 19.2% were administered IVIG in addition to methylprednisolone. In general, the laboratory values indicative of hyperinflammatory and hyperthrombotic states displayed significant early response within 2-3 days after initial treatment, including white cell count (SE=1.77, p<0.001), NEU (SE=0.76, p=0.03), C reactive protein (SE=-46.51, p<0.001), PLT (SE=38.05, p=0.002), fibrinogen (SE=-0.37, p=0.002), d-dimer (SE=-849.8, p=0.02)); while subsequent improvement in cardiac markers was also observed, with pro-B-type natriuretic peptide (SE=-165.2, p<0.001) on day 5 and troponin I (SE=-0.05, p=0.004) on day 7. After propensity score weighting, there were 41 patients in each treatment group. Notably, there were no significant differences in the incidence of cardiac events between treatment groups regarding left ventricular dysfunction and coronary artery dilation or aneurysms (10.3% vs 20.7%, p=0.074 and 63.4% vs 56.1%, p=0.653, respectively). While the median paediatric intensive care unit length of stay (LOS) and hospital LOS were slightly lengthier in the IVIG and methylprednisolone group compared with those of the methylprednisolone group, these differences were not statistically significant ((5 vs 4, p=0.782) and (9 vs 7, p=0.725), respectively).

Conclusions: Initial treatment with methylprednisolone monotherapy appears not inferior in effectiveness to adjunctive IVIG plus methylprednisolone in MIS-C. Further investigations in randomised controlled trials deserve to be undergone to clarify if IVIG-sparing glucocorticoids are a viable option for achieving favourable outcomes in MIS-C, particularly in resource-limited settings with barriers approaching IVIG therapy.

Objective: To investigate whether probiotic supplementation can improve behavioural and gastrointestinal (GI) symptoms in children with autism spectrum disorder (ASD) aged 2-9 years and further explore the correlation between these symptoms.

Design: Single-blinded, randomised, placebo-controlled study.

Setting: Five developmental paediatric outpatient clinics of 'Continua Kids'.

Patients: Children aged 2-9 years diagnosed with ASD along with their caregivers.

Interventions: Probiotic or placebo sachet reconstituted in 50 mL of lukewarm milk/water, taken two times per day for 3 months.

Main outcome measures: Change in behavioural (measured by Social Responsiveness Scale-2 (SRS-2) and Aberrant Behaviour Checklist-2 (ABC-2) tools) and GI (measured by GI Severity Index (GSI) score) symptoms after receiving intervention for 3 months.

Results: A total of 180 children with ASD were enrolled in the study (probiotic group: 90 and placebo group: 90). All children completed the study. The probiotic group showed a significant reduction in behavioural symptom severity as measured by the SRS-2 tool (47.77% vs 23.33%; p=0.000) compared with the placebo. Probiotic-treated children demonstrated significant reductions in severe symptoms, including social withdrawal/lethargy (40%), stereotypic behaviour (37.77%), hyperactivity (34.44%) and inappropriate speech (32.22%) post-intervention (p=0.000). They also had marked improvements in constipation (p=0.003) and diarrhoea (p=0.043) compared with the placebo group. Both groups exhibited a statistically significant correlation between behavioural and GI symptoms.

Conclusions: Probiotic supplementation improved behavioural and GI symptoms in children with ASD with no adverse effects. Both symptoms were significantly correlated. However, these results need to be validated in a larger sample size.

Trial registration number: CTRI/2021/11/038213.