The Queensland Children's Hospital (QCH), formerly the Lady Cilento Children's Hospital, is a public children's hospital on Stanley Street in South Brisbane, Queensland, Australia. QCH is the primary facility of Children's Health Queensland, the state-wide Hospital and Health Service that provides paediatric specialty care and support.Opened on 29 November 2014, QCH is a paediatric hospital in Queensland. QCH has an emergency department, intensive and critical care unit, as well as general and specialist paediatric services. Children's Health Queensland also provides clinicians and support staff to other hospitals, gives facilities access to paediatric specialists via telehealth, and offers services like local Child and Youth Mental Health.The hospital combines the former Royal Children's Hospital and Mater Children's Hospital into one new facility at an estimated construction cost of A$1.2 billion. The 12-level facility represents the largest capital investment in children's health services in Queensland's history.The Queensland Children's Hospital is categorised as a level six service, under the Clinical Services Capability Framework for Public and Licensed Private Health Facilities v3.2, 2014. This means it is responsible for providing general paediatric health services to children and young people in the greater Brisbane metropolitan area, as well as tertiary-level care.The hospital employs more than 2,500 people from a range of disciplines; and in its first year admitted almost 38,000 inpatients, saw 63,634 emergency presentations, performed 14,113 operations and provide 188,765 outpatient appointments.
BACKGROUND:In 2017, the PREDICT (Paediatric Research in Emergency Departments International Collaborative) network conducted a cluster randomised controlled trial (cRCT) at 26 Australian and New Zealand hospitals to improve bronchiolitis care. Findings demonstrated that targeted interventions significantly improved adherence with five evidence-based low-value bronchiolitis practices (no chest radiography, salbutamol, glucocorticoids, antibiotics and epinephrine) in the first 24 hours of hospitalisation (adjusted risk difference, 14.1%; 95% CI: 6.5% to 21.7%; p<0.001). During the intervention year (2017), intervention hospital (n=13) compliance was 85.1% (95% CI: 82.6% to 89.7%). This study aimed to determine if improvements in bronchiolitis management were sustained at intervention hospitals 2 years post-trial completion. METHODS:International, multicentre follow-up study of hospitals in Australia and New Zealand that participated in a cRCT of de-implementation of low-value bronchiolitis practices, 1 year (2018) and 2 years (2019) post-trial completion, obtained retrospectively from medical audits. Sustainability was defined a priori as no more than a <7% decrease to any level of improvement in adherence for all five low-value practices (composite outcome) from the cRCT intervention year. RESULTS:Of the 26 hospitals, 11 intervention and 10 control hospitals agreed to participate in the follow-up study. Data were collected on 3299 infants with bronchiolitis 1 year (intervention and control hospitals) and 1689 infants 2 years post-trial (intervention hospitals). Adherence with no use of the five low-value practices 2 years post-trial completion was 80.9% (adjusted predicted adherence, 80.8%, 95% CI: 77.4% to 84.2%; estimated risk difference from cRCT outcome -3.9%, 95% CI: -8.6% to 0.8%) at intervention hospitals, fulfilling the a priori definition of sustainability. DISCUSSION:Targeted interventions, delivered over one bronchiolitis season, resulted in sustained improvements in bronchiolitis management in infants 2 years later. This follow-up study provides evidence for sustainability in de-implementing low-value care in bronchiolitis management. TRIAL REGISTRATION DETAILS:Australian and New Zealand Clinical Trials Registry No: ACTRN12621001287820.
The aetiology of childhood motor speech disorders of dysarthria and apraxia has been poorly understood. Recent evidence suggests a moderate genetic contribution for these rare and severe speech disorders. To date, however, no studies have examined genetic diagnostic yield for childhood apraxia of speech (CAS) and dysarthria in a clinical setting. Here, we used a clinically accredited genomics pipeline to investigate genetic diagnostic yield and variables predictive of a genetic diagnosis in a tertiary hospital speech clinic. A cohort of 153 children (range 2;7-16;5 years, 42 female) ascertained for motor speech disorder were assessed by a clinical geneticist and speech pathologist and underwent chromosomal microarray, Fragile X and exome sequencing. Odds ratios identified predictors of genetic diagnosis. 44/153 (29%, 15 female) had pathogenic variants (30 de novo), encompassing monogenic conditions (n = 35) and copy number variants (n = 9) across 38 distinct disorders. Delayed walking, fine and gross motor disorder, receptive language impairment and/or cognitive impairment, and dysmorphism were associated with a genetic diagnosis. The presence of CAS and dysarthria was more commonly associated with a genetic diagnosis than CAS alone. Autism spectrum disorder was less commonly associated with a genetic diagnosis. No child had a Fragile X diagnosis. The clinical genetic diagnostic yield for motor speech disorders is comparable to epilepsy and cerebral palsy, conditions where genetic testing is routine in most centres, unlike for motor speech disorders. Children with motor speech disorder with co-occurring motor, language and/or learning deficits, should be prioritised for genomic testing.
OBJECTIVE:The Fontan operation is the final step in staged palliation for patients with single-ventricle physiology. It has extended their life expectancy and improved their quality of life. However, long-term complications and Fontan failure remain lifelong concerns. We aimed to use machine learning to develop a patient-specific preoperative Fontan failure risk calculator. METHODS:Patient data were obtained from the Australia and New Zealand Fontan Registry (ANZFR). The primary composite end point was Fontan failure, defined as any of death, transplant, Fontan takedown or conversion, protein-losing enteropathy, plastic bronchitis, or New York Heart Association class III/IV. To construct the risk calculator, we first used Cox regression with regularization to predict Fontan failure from 54 preoperative predictors in the ANZFR database. A regularization machine learning tool was used to automate variable selection among many predictors. We then manually added clinically relevant predictors. Six predictors (age, ventricular morphology, primary diagnosis, total anomalous pulmonary venous drainage, Fontan type, and moderate or greater atrioventricular valve regurgitation) were ultimately used in a subsequent multivariable Cox regression (without regularization) to ensure the final risk prediction model was simple and easy to interpret. RESULTS:Data from 1888 patients over 48 years (1975-2023) were available. The ANZFR collects perioperative and follow-up variables about each patient. After excluding patients with Fontan procedures with an atriopulmonary connection (n = 290) and missing predictors or outcome data (n = 125), data from 1473 patients were used to construct the calculator. Median age at Fontan was 4.5 years (interquartile range, 3.7, 5.6 years). Median follow-up was 11.0 years (interquartile range, 5.3, 17.8 years). Freedom from Fontan failure for the overall cohort at 10, 20, and 30 years was 92% (confidence interval [CI], 90%-93%), 83% (CI, 80%-86%), and 72% (CI, 65%-78%), respectively. External validation in an independent cohort demonstrated acceptable model performance. The risk prediction model was then implemented in a Desktop application using the Shiny library in R and used to develop the preoperative Fontan failure calculator on the basis of the 6 predictors. CONCLUSIONS:Machine learning can be applied to "big data" from a binational Fontan Registry to develop a preoperative, patient-specific Fontan failure risk calculator. The model will continue to learn and improve as more data is added. This is a step toward personalized medicine enabling patient-specific pre-operative counselling and realistic expectations.
Background: Verrucous venous malformations (VVMs) are rare congenital vascular anomalies characterized by ectatic venous channels in the dermis and subcutis, with overlying verrucous epidermal changes. Typically presenting in early childhood, they may cause pain, bleeding, infection, and psychosocial distress. Diagnosis and management are often difficult due to clinical and histopathologic overlap with other vascular lesions. Nonsurgical therapies have been trialled with limited success, and surgical excision remains the primary treatment. However, the efficacy of surgery, particularly when combined with reconstructive techniques, has not been systematically compared to alternative modalities. Materials and Methods: Twenty-three paediatric patients (aged one month to 17 years) with congenital or early-onset vascular lesions suspected to be VVMs were evaluated at a tertiary vascular anomalies clinic between 2019 and 2025. Clinical presentation, imaging, histopathology, IHC, and NGS results of a 32-gene vascular anomaly panel were reviewed. All patients underwent biopsy or excision. Data were collected retrospectively from operative reports, pathology results, and follow-up documentation. Results: Twenty-three patients (12 male, 11 female; mean age 6.6 years) were included in this series. Lesions were present at birth in all 23 children. Pain and ulceration were the most common symptoms reported, and most lesions demonstrated progressive enlargement. All were solitary and located on the limbs (n = 19) or trunk (n = 4), with a predilection for the lower limb. Imaging suggested low-flow vascular malformation in 14 patients. Twenty children underwent surgical excision. Excision techniques included elliptical excision, rhomboid flap reconstruction, and, in extensive lesions, staged excision with dermal regeneration templates, negative pressure wound therapy (NPWT) and split-thickness skin grafts (STSG). Adjunctive therapies were trialled in seven patients, including laser treatments such as Pulsed Dye Laser (PDL), Fractional Carbon Dioxide Laser (CO2) and Neodymium-Doped Yttrium Aluminum Garnet Laser (Nd:YAG), microneedling, sclerotherapy, and topical sirolimus. Histopathology confirmed VVM in 19/21 children; immunohistochemistry showed GLUT1 positivity in 18/19 and D2-40 in 8/19. MAP3K3 mutations were identified in 8/20 patients and a KRIT1 variant in one. Postoperative recovery was uncomplicated in most lesions. No major complications or functional impairments were observed, and most patients achieved satisfactory aesthetic and functional outcomes. Quality-of-life assessment using the BBSIP demonstrated consistent functional and psychosocial benefit. Conclusions: VVMs present diagnostic and therapeutic challenges due to their overlap with other vascular anomalies and variable histopathologic and molecular features. Surgical excision remains the cornerstone of treatment, with reconstructive strategies such as biodegradable temporizing matrixes (BTM) and STSG aiding closure in extensive or anatomically complex lesions. Adjunctive therapies, including laser and microneedling, may further enhance postoperative cosmetic outcomes. Importantly, BBSIP assessment confirmed that surgery offers substantial functional and psychosocial improvements. A multidisciplinary, individualized approach is essential to achieving durable symptom relief, minimizing recurrence, and optimising care for these rare and complex lesions.
Congenital syphilis can be asymptomatic, or present with subtle signs and symptoms such as persistent nasal snuffliness. As syphilis infections in women of childbearing age are increasing in Australia and many high‐income countries, paediatricians need to be aware of the symptoms and signs of congenital syphilis to enable prompt diagnosis and treatment. Infants with congenital syphilis should be nursed in contact precautions until 24 h of antibiotic therapy has been administered to prevent nosocomial transmission.
