Demographic, Clinical, Management, and Outcome Characteristics of 8,004 Young Children With Type 1 Diabetes.

Objective: To compare demographic, clinical, and therapeutic characteristics of children with type 1 diabetes age <6 years across three international registries: Diabetes Prospective Follow-Up Registry (DPV; Europe), T1D Exchange Quality Improvement Network (T1DX-QI; U.S.), and Australasian Diabetes Data Network (ADDN; Australasia).

Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.

Objectives: Speech and language impairments are core features of the neurodevelopmental genetic condition Kleefstra syndrome. Communication has not been systematically examined to guide intervention recommendations. We define the speech, language and cognitive phenotypic spectrum in a large cohort of individuals with Kleefstra syndrome.

Evaluation of paediatric palliative care ambulance plans: A retrospective study.

Paediatric Palliative Care Ambulance Plans ('Plans') are used by New South Wales Ambulance (Australia) to support the care needs of children with life-limiting conditions. We aimed to describe the population of children with Plans and provide details regarding Plan completion, paramedic responses during ambulance callouts, and correspondence between Plan recommendations and paramedic responses. Plans lodged in January 2017-December 2019 were retrospectively coded for demographic information, completeness and care preferences.

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

Purpose: Genome sequencing (GS)-specific diagnostic rates in prospective tightly ascertained exome sequencing (ES)-negative intellectual disability (ID) cohorts have not been reported extensively.

Methods: ES, GS, epigenetic signatures, and long-read sequencing diagnoses were assessed in 74 trios with at least moderate ID.

Results: The ES diagnostic yield was 42 of 74 (57%).

Exploring resource implications and models of care for assessment and diagnosis of fetal alcohol spectrum disorder: A scoping review.

Previous reviews have examined annual mean costs of care for individuals with fetal alcohol spectrum disorder (FASD), costs of the health burden, costs to the justice system, productivity losses for caregivers, and both the monetary and nonmonetary costs of reduced quality of life. However, because there have been no published reviews focused on understanding the resource implications and specific service features for the assessment and diagnostic process for FASD, the current scoping review investigated the available evidence on these topics. Eligible studies were identified through a systematic search of six databases and included if they contained information on the potential costs or models of care associated with undertaking an assessment for FASD.

Factors to be considered as part of a holistic assessment for fetal alcohol spectrum disorder: A scoping review.

We undertook a scoping review to identify the factors outside of current fetal alcohol spectrum disorder (FASD) diagnostic criteria to be considered as part of a holistic assessment process. This included physical, social, cultural, mental health and wellbeing factors to inform targeted recommendations and supports to improve outcomes for individuals with FASD. Evidence from this review will be used to inform the revision of the Australian Guide to the Diagnosis of FASD.

Fabry-specific treatment in Australia: time to align eligibility criteria with international best practices.

Background: Disease-specific therapy aims to improve symptoms, stabilise current disease and delay progression in patients with Fabry disease. In Australia, treatment access is subject to eligibility criteria initially established in 2004. Patients and their clinicians question why these criteria have remained unchanged despite significant progress in disease understanding.

Self-reported prescribing behaviour of vitamin D prophylaxis in healthy children by Belgian paediatricians.

There is currently no consensus on the guidelines for vitamin D prophylaxis in healthy children. The purpose of this study was to investigate the prescribing behaviour of vitamin D prophylaxis among Belgian paediatricians. Between June and September 2022, a questionnaire was distributed by email to all Belgian paediatricians who are a member of at least one of three scientific or professional organisations, as well as to the heads of every Belgian paediatric or neonatal hospital ward.

T12-L3 Nerve Transfer-Induced Locomotor Recovery in Rats with Thoracolumbar Contusion: Essential Roles of Sensory Input Rerouting and Central Neuroplasticity.

Locomotor recovery after spinal cord injury (SCI) remains an unmet challenge. Nerve transfer (NT), the connection of a functional/expendable peripheral nerve to a paralyzed nerve root, has long been clinically applied, aiming to restore motor control. However, outcomes have been inconsistent, suggesting that NT-induced neurological reinstatement may require activation of mechanisms beyond motor axon reinnervation ().

Does the Nutritional Intake and Diet Quality of Children With Chronic Kidney Disease Differ From Healthy Controls? A Comprehensive Evaluation.

Objective: Children with chronic kidney disease (CKD) experience many obstacles to achieving optimal dietary intake. Dietary intake patterns remain unexplored or poorly described. This study compares nutritional intake and diet quality of Australian children with CKD to controls.

Rare case of mortality after hemorrhagic property of esthesioneuroblastoma.

Esthesioneuroblastoma is a tumor arising from olfactory neuroepithelium with an incidence of four per million. This case presents a rare nasal cavity neoplasm with hemorrhagic properties that may lead to significant sequelae. We present a 69-year-old male patient who presented with worsening altered mental status over the past 6-7 months.

The Early HOSPITAL Score to Predict 30-Day Readmission Soon After Hospitalization: a Prospective Multicenter Study.

Background: The simplified HOSPITAL score is an easy-to-use prediction model to identify patients at high risk of 30-day readmission before hospital discharge. An earlier stratification of this risk would allow more preparation time for transitional care interventions.

Objective: To assess whether the simplified HOSPITAL score would perform similarly by using hemoglobin and sodium level at the time of admission instead of discharge.

Young carers' perspectives on navigating the healthcare system and co-designing support for their caring roles: a mixed-methods qualitative study.

Objectives: Despite young carers (YCs) providing regular and significant care that exceeds what would normally be associated with an adult caregiver, we need to learn more about their experience interacting with the healthcare system. The primary study aims were to (1) describe YC experiences in interacting with the healthcare system and (2) identify types of support YC recognise as potentially helpful to their caring role.

Design And Setting: A mixed-methods qualitative study was conducted between March 2022 and August 2022, comprising two phases of (1) semi-structured interviews and focus groups with YCs living in the community to confirm and expand earlier research findings, and (2) a co-design workshop informed by a generative research approach.

Lessons learnt in the first year of an Australian pediatric cardio oncology clinic.

Background: Modern oncological therapies together with chemotherapy and radiotherapy have broadened the agents that can cause cardiac sequelae, which can manifest for pediatric oncology patients while on active treatment. Recommendations for high-risk patients who should be monitored in a pediatric cardio-oncology clinic have previously been developed by expert Delphi consensus by our group. In 2022 we opened our first multidisciplinary pediatric cardio-oncology clinic adhering to these recommendations in surveillance and management.

Statistical analysis plan for the NITric oxide during cardiopulmonary bypass to improve Recovery in Infants with Congenital heart defects (NITRIC) trial.

The NITric oxide during cardiopulmonary bypass (CPB) to improve Recovery in Infants with Congenital heart defects (NITRIC) trial, a 1320-patient, multicentre, randomised controlled trial, is aiming to improve survival free of ventilation after CPB by using nitric oxide delivered into the oxygenator of the CPB. To provide a statistical analysis plan before completion of patient recruitment and data monitoring. Final analyses for this study will adhere to this statistical analysis plan, which details all key pre-planned analyses.