A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy.

Purpose: To describe the natural history of autosomal dominant (AD) GUCY2D-associated cone-rod dystrophies (CRDs), and evaluate associated structural and functional biomarkers.

Methods: Retrospective analysis was conducted on 16 patients with AD GUCY2D-CRDs across two sites. Assessments included central macular thickness (CMT) and length of disruption to the ellipsoid zone (EZ) via optical coherence tomography (OCT), electroretinography (ERG) parameters, best corrected visual acuity (BCVA), and fundus autofluorescence (FAF).

Evaluating the Use of PROMs in Paediatric Orthopaedic Registries.

Patient-reported outcome measures (PROMs) provide structured information on the patient's health experience and facilitate shared clinical decision-making. Registries that collect PROMs generate essential information about the clinical course and efficacy of interventions. Whilst PROMs are increasingly being used in adult orthopaedic registries, their use in paediatric orthopaedic registries is not well known.

Outcomes of medically retrieved infants with bronchiolitis in high-income countries: A scoping review.

Introduction: Bronchiolitis is the most common respiratory infection and reason for hospitalisation in infancy; however, outcomes of infants with bronchiolitis who require interhospital transfer by specialist medical retrieval services are poorly understood.

Objectives: The objective of this study was to summarise current evidence of the rate, therapy, and outcomes of infants with bronchiolitis who required medical retrieval for ongoing management.

Review Method: A scoping literature review informed by the Joanna Briggs Institute methodology was used including published studies in any language covering the period 1996 to December 2022 and grey literature sources comprised of reports from retrieval services in high-income countries with comparable healthcare systems.

Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales.

Glycogen storage type V (GSD V-McArdle Syndrome) is a rare neuromuscular disorder characterised by severe pain early after the onset of physical activity. A recent series indicated a diagnostic delay of 29 years; hence reports of children affected by the disorder are uncommon (Lucia et al., 2021, , 31, 1296-1310).

The psychosocial impact of childhood dementia on children and their parents: a systematic review.

Background: Childhood dementias are a group of rare and ultra-rare paediatric conditions clinically characterised by enduring global decline in central nervous system function, associated with a progressive loss of developmentally acquired skills, quality of life and shortened life expectancy. Traditional research, service development and advocacy efforts have been fragmented due to a focus on individual disorders, or groups classified by specific mechanisms or molecular pathogenesis. There are significant knowledge and clinician skill gaps regarding the shared psychosocial impacts of childhood dementia conditions.

Live vaccines following intravenous immunoglobulin for Kawasaki disease: Are we vaccinating appropriately?

Aim: Australian and New Zealand guidelines recommend that live vaccines be postponed for 11 months after treatment of Kawasaki disease (KD) with intravenous immunoglobulin (IVIG). We aimed to describe patterns of live-vaccine administration after KD treatment, focusing on the measles-mumps-rubella/measles-mumps-rubella-varicella (MMR/MMRV) vaccines, and to compare real-world practice with current recommendations.

Methods: We combined data from inpatient Electronic Health Records and the Australian Immunisation Register for all children who received IVIG for the treatment of KD under the age of 5 years at two Australian tertiary children's hospitals over a 12-year period.

Impact of LEAP and CBT-AN Therapy on Improving Outcomes in Women with Anorexia Nervosa.

Anorexia nervosa (AN) is a mental health disorder that has serious physical, emotional and social consequences. Whilst cognitive behavioural therapy for AN (CBT-AN) has demonstrated efficacy, there remains a global need to improve AN treatment. Compulsive exercise activity therapy (LEAP) is an active therapy consisting of the addition to CBT-AN of eight specific sessions that focus on exercise and motivation for behavioural change.

Advocacy at the Eighth World Congress of Pediatric Cardiology and Cardiac Surgery.

The (WCPCCS) will be held in Washington DC, USA, from Saturday, 26 August, 2023 to Friday, 1 September, 2023, inclusive. The will be the largest and most comprehensive scientific meeting dedicated to paediatric and congenital cardiac care ever held. At the time of the writing of this manuscript, has 5,037 registered attendees (and rising) from 117 countries, a truly diverse and international faculty of over 925 individuals from 89 countries, over 2,000 individual abstracts and poster presenters from 101 countries, and a Best Abstract Competition featuring 153 oral abstracts from 34 countries.

A Study Protocol for Safeguards Child and Adolescent Mental Health Rapid Response Teams ('Safeguards Teams') Service.

Introduction: As the number of children and young people (CYP) presenting to Emergency Departments (ED) with acute mental health (MH) presentations has been steadily increasing over the years and further accelerated by the pandemic, there is an urgent need to develop and evaluate innovative solutions to respond to this growing challenge.

Description: The evaluation of the Safeguards Teams Program (STP) aims to ascertain the impact, implementation and economic analysis of this acute rapid response recovery-focused, trauma-informed assessment and brief intervention for CYP (aged 0-17 years) presenting in acute MH crisis and their families/caregivers.The STP will support consumers (patients) and their families/caregivers to navigate the complex and often fragmented child and adolescent MH services (CAMHS) landscape, thereby avoiding unnecessary ED presentations or hospitalisations, and facilitating comprehensive assessment and appropriate care pathways for those who present in crisis.

Benefit of high-dose oral riboflavin therapy in riboflavin transporter deficiency.

Riboflavin transporter deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised by pontobulbar palsy, sensorineural deafness, sensory ataxia, muscle weakness, optic atrophy and respiratory failure. Riboflavin supplementation is beneficial in short-term reports, but the quantum of benefit in various clinical domains is not well understood. A PubMed search was conducted, which identified 94 genetically confirmed cases of RTD who received riboflavin supplementation and had follow-up assessments.

Should genes for non-syndromic hearing loss be included in reproductive genetic carrier screening: Views of people with a personal or family experience of deafness.

Many commercial reproductive genetic carrier screening (RGCS) panels include genes associated with non-syndromic hearing loss (NSHL), however little is known about the general acceptability of their inclusion. Although some couples wish to avoid having a deaf child, there are effective interventions and supports available for deafness, and no consensus on whether it is appropriate to reproductively screen NSHL genes. This study explored views of people with personal experience of deafness regarding carrier screening for genes associated with NSHL.

The Carrier Frequency of Two Genes in Parents of Symptomatic Children with SMA and the Significance of Exon 8 in Carriers.

Background: Current carrier screening methods do not identify a proportion of carriers that may have children affected by spinal muscular atrophy (SMA). Additional genetic data is essential to inform accurate risk assessment and genetic counselling of SMA carriers. This study aims to quantify the various genotypes among parents of children with SMA.

Childhood undernutrition in North Africa: systematic review and meta-analysis of observational studies.

Background: Undernutrition remains a major public health issue in low- and middle-income countries. Objective Our aim for this study was to identify the factors contributing to undernutrition in children under five years old in North Africa.

Methods: We searched five electronic bibliographic databases (Ovid MEDLINE, Web of Science, Embase (Ovid), ProQuest, and CINAHL) for eligible observational studies published after 2006.

What do healthcare staff think about the quality and safety of care provided to children and young people with an intellectual disability? A qualitative study using the framework method of analysis.

Objective: To elicit patient safety issues pertaining to children and young people with intellectual disability in hospital from healthcare staff perspectives. This follows a previous paper of parent interviews of patient safety experiences of their child in hospital.

Design: Qualitative study.

Genomic testing for suspected monogenic kidney disease in children and adults: A health economic evaluation.

Purpose: To assess the relative cost-effectiveness of genomic testing compared with standard non-genomic diagnostic investigations in patients with suspected monogenic kidney disease from an Australian health care system perspective.

Methods: Diagnostic and clinical information was used from a national cohort of 349 participants. Simulation modelling captured diagnostic, health, and economic outcomes during a time horizon from clinical presentation until 3 months post-test results based on the outcome of cost per additional diagnosis and lifetime horizon based on cost per quality-adjusted life-year (QALY) gained.

In Search of Adeno-Associated Virus Vectors With Enhanced Cardiac Tropism for Gene Therapy.

Globally, adeno-associated virus (AAV) vectors have been increasingly used for clinical gene therapy trials. In Australia, AAV-based gene therapy is available for hereditary diseases such as retinal dystrophy or spinal muscular atrophy 1 (SMA1). Many preclinical studies have used AAV vectors for gene therapy in models of cardiac disease with outcomes of varying translational potential.

Altered Hippocampal and Striatal Expression of Endothelial Markers and VIP/PACAP Neuropeptides in a Mouse Model of Systemic Lupus Erythematosus.

Neuropsychiatric systemic lupus erythematosus (NPSLE) is one of the most common and severe manifestations of lupus; however, its pathogenesis is still poorly understood. While there is sparse evidence suggesting that the ongoing autoimmunity may trigger pathogenic changes to the central nervous system (CNS) microvasculature, culminating in inflammatory/ischemic damage, further evidence is still needed. In this study, we used the spontaneous mouse model of SLE (NZBWF1 mice) to investigate the expression of genes and proteins associated with endothelial (dys)function: tissue and urokinase plasminogen activators (tPA and uPA), intercellular and vascular adhesion molecules 1 (ICAM-1 and VCAM-1), brain derived neurotrophic factor (BDNF), endothelial nitric oxide synthase (eNOS) and Krüppel-like factor 4 (KLF4) and neuroprotection/immune modulation: pituitary adenylate cyclase-activating peptide (PACAP), vasoactive intestinal peptide (VIP), PACAP receptor (PAC1), VIP receptors 1 and 2 (VPAC1 and VPAC2).

Quality of life in caregivers of a child with a developmental and epileptic encephalopathy.

Aim: To explore the relationship between social care-related quality of life (SCrQoL) for caregivers of a child with a developmental and epileptic encephalopathy (DEE; such as SCN2A and Dravet syndrome) and health literacy, illness perceptions, and caregiver activation.

Method: As part of a larger pre-post pilot study of an information linker service, caregivers completed a baseline questionnaire which included demographics and measures to assess SCrQoL, health literacy, illness perceptions, and caregiver activation. We used Spearman's Rho to determine relationships between variables.