Journal of paediatrics and child health最新文献

Aim: To evaluate neonatal nutrition practices in Australia and New Zealand (NZ) in 2024 and compare these with previous surveys, international recommendations and British Dietetic Association workforce standards. The survey aimed to investigate progress towards standardisation, variations in practice and priorities for neonatal dietetic service development.

Methods: A two-part online survey was distributed to members of the Australasian Neonatal Dietitians Network (ANDiN) and dietitians working in Australasian neonatal units. Part 1 gathered site-level data; Part 2 focused on individual dietitians' roles. Responses were analysed descriptively and compared with the 2018 ANDiN survey. Dietitian full-time equivalent (FTE) allocations were benchmarked against (BDA) service recommendations.

Results: About 39 neonatal units (26% NZ, 74% Australia) and 66 dietitians responded. Growth monitoring was near-universal, with 86% using Fenton 2013 charts and 91% using z-scores. However, 32% transitioned to WHO charts at 40 weeks, earlier than recommended. Parenteral nutrition hang time practices varied significantly. Donor breastmilk was available in 77% of units and probiotics were used in 89%. Only 23% of units met the recommended dietitian FTE and 16% reported ≤ 0.1 FTE. While 61% of dietitians attended ward rounds weekly or more, one-third never attended. Research participation remains low at 21%.

Conclusions: Progress is evident in standardised growth assessment and nutrition practices. However, wide variation remains in feed strategies, parenteral nutrition protocols and workforce capacity. Greater alignment with consensus guidelines and workforce benchmarks is needed. Enhancing neonatal dietitian integration, research engagement and resourcing is critical to supporting equitable, high-quality neonatal nutrition care.

Aim: To evaluate the diagnostic yield and clinical triage performance of a structured, multistep algorithm in children referred for suspected inborn errors of immunity (IEI) due to recurrent infections.

Methods: This single-centre study included 705 children (0-18 years) referred for recurrent infections. All were screened using JMF and/or MENA criteria. Of these, 132 met at least one criterion and underwent stepwise immunologic evaluation, including advanced testing when indicated.

Results: Of 705 children referred with recurrent infections, 132 (18.7%) met screening criteria and underwent structured immunologic evaluation. Inborn errors of immunity were diagnosed in 50 patients (7.1%), with a 71% diagnostic confirmation rate. Pathogenic variants were detected in 74%, immunoglobulin abnormalities in 78% and all showed lymphocyte subset disturbances. The most common classifications were antibody deficiencies (32%) and syndromic combined immunodeficiencies (28%). Half received intravenous immunoglobulin, and no mortality occurred during follow-up.

Conclusion: The structured diagnostic algorithm based on JMF and MENA criteria improved IEI diagnosis and enabled effective prioritisation of children presenting with non-infectious immune phenotypes. This model reduced unnecessary testing, supported efficient allocation of limited resources and facilitated timely diagnosis. The approach offers a practical, cost-effective solution particularly applicable in regions with high consanguinity rates and limited access to advanced immunologic diagnostics.

Aim: To systematically review clinical and genetic testing approaches to VACTERL association, a non-random co-occurrence of congenital anomalies involving the vertebrae, anus, cardiac system, trachea-oesophagus, renal system, and limbs. The review will examine investigation strategies used in clinical practice and evaluate the diagnostic yield of genetic testing in affected individuals.

Methods: A systematic search of PubMed, MEDLINE, EMBASE, Web of Science, and CINAHL was conducted from database inception to 1 December 2024. Eligible studies included English-language human studies reporting genetic testing in individuals with VACTERL association. Grey literature and studies limited to management were excluded. Risk of bias and certainty of evidence were assessed using Joanna Briggs Institute tools and the Grading of Recommendations Assessment, Development, and Evaluation.

Results: A total of 65 articles met inclusion criteria-32 observational studies, 20 case reports, 9 case series, and 4 expert opinions. Findings were tabulated and narratively synthesised. Reported diagnostic yields were 2%-31% for chromosomal microarrays and 5%-22% for whole-exome sequencing.

Conclusions: Definitions of VACTERL and diagnostic approaches vary widely. Limitations of the evidence base include study heterogeneity, reliance on retrospective designs, outdated technologies, and lack of meta-analyses. Prospective studies are needed to develop protocols. In the interim, imaging, complete blood count and film, chromosomal microarray, chromosomal breakage studies, and exome or genome sequencing should be considered for patients with two or more VACTERL features, or selected individuals with an isolated feature. This recommendation is based on the implications of a molecular diagnosis for management. Key diagnostic elements and differential diagnoses are summarised.

Aim: Stunting, defined as low height-for-age, impairs growth, cognitive development and contributes to long-term poverty through poor school performance and health outcomes. In Tanzania, 28% of children under 5 are stunted, with Iringa Region showing the highest prevalence (57%). It is unclear why such high incidences occur despite the region being a leading food producer.

Methods: To explore underlying factors, a community-based cross-sectional survey was conducted in four districts of Iringa in September-October 2024, involving children under 2 years. Data were collected using household questionnaires covering feeding practices, water, sanitation and hygiene (WaSH), vaccination, illness and socio-demographic factors.

Results: The median age was 14 months and 205 (51%) were male. Overall, out of 397, 59% were stunted, though most had normal underweight (89%) and wasting status (97.5%). Additionally, 94% met minimum dietary diversity, confirming diet alone does not explain the high stunting rate. Bivariate analysis identified nine significant variables: gender, underweight status, toilet sharing, child hand wash before and after feeding, continued breastfeeding, measles vaccination, vitamin A supplementation and feeding diversity, of which five (5) remained significant in multivariate analysis. Multivariate analysis showed male children had 2.2 times higher odds of stunting; risk also increased among underweight children but was lower in those under 1 year. Continued breastfeeding after 6 months reduced odds of stunting by 61%. Children in households sharing toilets had almost half the odds.

Conclusion: Findings highlight the need to promote breastfeeding beyond 6 months, strengthen nutrition and WaSH programs and target interventions for male and underweight children.

Introduction: STORCH refers to a group of congenital infections (syphilis, toxoplasmosis, rubella, cytomegalovirus and herpes) that can impact the central nervous system. As clinical signs may not appear until several months or years after birth, the early detection of risk in STORCH-exposed infants has been challenging, and the use of sensitive tools in this population is understudied.

Objective: To compare STORCH-exposed infants with non-exposed controls using the Hammersmith Infant Neurological Examination (HINE) at 3 months of age.

Methods: This is an observational cohort study. A total of 60 infants were included and equally allocated into two groups: an exposed group, whose mothers had a clinically confirmed diagnosis of a classic STORCH infection during pregnancy, and a non-exposed control group, whose mothers did not present STORCH infections during gestation. At 3 months of age (13.83 ± 1.09 weeks post-term), infants were assessed using the HINE. Group comparisons were performed for the global score, subscores across the five scorable domains (cranial nerve function, posture, spontaneous movements, tone and reflexes and reactions), number of asymmetries and risk of cerebral palsy.

Results: The exposed group showed lower global scores and lower subscores in most HINE domains compared to controls, along with a higher frequency of asymmetries and an increased proportion of infants classified as at high risk for cerebral palsy.

Conclusion: Infants prenatally exposed to STORCH infections showed an increased risk of impairment based on the HINE when compared to controls. Potential neurological limitations were detectable in the exposed group at 3 months of age.

Objective: The Victorian Virtual Emergency Department (VVED) is a statewide virtual emergency service in Victoria, Australia providing real-time online audio-visual consultations for patients with non-life-threatening conditions. This study aims to explore the utilisation and impact of the paediatric arm of the VVED (VVED-Kids).

Study design: This was a retrospective analysis of routinely collected data from the VVED. Data was extracted from the VVED data warehouse on patients aged 0-17 years presenting to VVED-Kids during the initial two-year period of the dedicated paediatric department (March 2023-February 2025). Outcome variables included sociodemographic data, referral source, recommended disposition and diagnosis (ICD code). Descriptive statistics were used to report patient demographics and service-related characteristics of presentations.

Results: During the two-year period, there were 130 821 presentations to VVED-Kids. The median patient age was 3 years, 53.1% of presentations were in males, and 73% of presentations were from children living in metropolitan areas. The most common referral source was self-referral (64.1%), followed by Nurse-on-Call (20.0%) and paramedic consultations (6.5%). Over half of VVED-Kids presentations comprised viral infections, including fevers, gastroenteritis or respiratory illnesses. The majority of presentations were managed without requiring transfer to a physical ED (85.6%).

Conclusions: Based on discharge disposition, VVED-Kids appears to divert patients from attending physical EDs, preserving in-person care for higher acuity patients who need it most. Partnerships with key healthcare providers such as Nurse-on-Call and Ambulance Victoria can support more families in avoiding the physical ED and receiving care in their own homes.