65 results match your criteria: "Sydney Children's Hospitals Network (Randwick and Westmead[Affiliation]"

Article Synopsis
  • The study investigates the link between RNA alternative splicing abnormalities and physical function in children with congenital myotonic dystrophy (CDM), a severe form of myotonic dystrophy type 1 (DM1).
  • Researchers analyzed data from 82 participants, including adults with DM1 and children with CDM, assessing muscle biopsies, motor function, strength, and myotonia.
  • Results showed a significant correlation between myotonia and RNA mis-splicing in all DM1 individuals, while motor performance and strength were associated with splicing dysregulation, aiding future clinical trial designs for DM1 and CDM.
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Objectives: To compare medication errors identified at audit and via direct observation with medication errors reported to an incident reporting system at paediatric hospitals and to investigate differences in types and severity of errors detected and reported by staff.

Methods: This is a comparison study at two tertiary referral paediatric hospitals between 2016 and 2020 in Australia. Prescribing errors were identified from a medication chart audit of 7785 patient records.

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Introduction: Prenatal drug exposure (PDE) is one of the most important causes of child harm, but comprehensive information about the long-term outcomes of the families is difficult to ascertain. The cohort study uses linked population data to understand the relationship between services, therapeutic interventions and outcomes of children with PDE.

Methods And Analysis: Information from routinely collected administrative databases was linked for all births registered in New South Wales (NSW), Australia between 1 July 2001 and 31 December 2020 (n=1 834 550).

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Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure.

Neurology

February 2024

From the The University of Sydney School of Health Sciences (M.R.M., P.B., K.M.D.C., M.J.M., J.B.), Faculty of Medicine and Health; Sydney Children's Hospitals Network (Randwick and Westmead) (M.R.M., P.B., K.M.C., J.B.), New South Wales, Australia; Department of Neurology (K.J.E., D.N.H.), University of Rochester, NY; Department of Neurology (M.E.S.), Carver College of Medicine, University of Iowa; Centre for Neuromuscular Diseases (M.M.R., G.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (S.S.S.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia; Fondazione IRCCS Istituto Neurologico Carlo Besta (D.P.), Milan, Italy; and The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (T.E.), Philadelphia.

Background And Objectives: Charcot-Marie-Tooth disease type 1A (CMT1A), caused by a duplication of , is the most common hereditary peripheral neuropathy. For participants with CMT1A, few clinical trials have been performed; however, multiple therapies have reached an advanced stage of preclinical development. In preparation for imminent clinical trials in participants with CMT1A, we have produced a Clinical Outcome Assessment (COA), known as the CMT-Functional Outcome Measure (CMT-FOM), in accordance with the FDA Roadmap to Patient-Focused Outcome Measurement to capture the key clinical end point of function.

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Objectives: To examine the changing health needs of refugee children and young people (CYP) entering Australia, in relation to key government policy changes.

Study Design: Retrospective analysis of health service use data over 11 years.

Setting: Paediatric refugee clinics in South Western Sydney (SWS), the Australian region with the largest annual resettlement of refugees.

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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.

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Cutaneous lesions are common manifestation of congenital leukaemia especially myeloid type with incidence of 25%-50% in reported cases. It is relatively rare in transient abnormal myelopoiesis (TAM) seen in trisomy 21 (~10%). The rashes seen in leukaemia and TAM are different.

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Introduction: Social determinants of health (SDH) are contributors to health inequities experienced by some children with cerebral palsy and pose barriers to families engaging with complex and fragmented healthcare systems. There is emerging evidence to support 'social prescribing' interventions that systematically identify SDH concerns and refer patients to non-medical social care support and services to address their needs. To date, social prescribing has not been trialled specifically for children with neurodevelopmental disabilities, including cerebral palsy, in Australia.

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Introduction: Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder which affects 5% of children globally. In Australia, it is estimated that 4.1% of children and adolescents have ADHD.

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Epidemiology of Kawasaki disease in Australia using two nationally complete datasets.

J Paediatr Child Health

April 2022

Faculty of Medicine and Health, Discipline of Child and Adolescent Health, The University of Sydney, Sydney, New South Wales, Australia.

Article Synopsis
  • The study aimed to analyze long-term trends in the incidence and epidemiology of Kawasaki disease (KD) in Australia over 25 years, noting an increase in cases in certain populations.* -
  • Researchers utilized two comprehensive datasets, the STARS and NHMD, to compare data on immunoglobulin treatment and hospitalizations related to KD from 2007 to 2015, finding similar rates in young children.* -
  • Results indicated a significant annual rise in hospitalizations due to KD, particularly in 1- to 4-year-olds, suggesting a potential true increase in incidence or improved diagnosis, with more research needed to clarify these trends.*
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Introduction: BCG vaccination modulates immune responses to unrelated pathogens. This off-target effect could reduce the impact of emerging pathogens. As a readily available, inexpensive intervention that has a well-established safety profile, BCG is a good candidate for protecting healthcare workers (HCWs) and other vulnerable groups against COVID-19.

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Introduction: Research highlights the importance of early intervention for children with autism spectrum disorder with better outcomes associated with earlier access to early intensive intervention (EII) programmes. However, there is significant variability in response to EII despite children receiving the same programmes.

Methods And Analysis: A prospective, multisite cohort study using a pre-post design assesses the predictors of early intervention outcomes for children who receive EII through six early intervention services (Autism Specific Early Learning and Care Centres, ASELCCs) across Australia.

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Reduced muscle tone, muscle weakness, and physical fatigue can impact considerably on quality of life for children with neurofibromatosis type 1 (NF1). Human muscle biopsies and mouse models of NF1 deficiency in muscle show intramyocellular lipid accumulation, and preclinical data have indicated that L-carnitine supplementation can ameliorate this phenotype. The aim of this study is to examine whether daily L-carnitine supplementation is safe and feasible, and will improve muscle strength and reduce fatigue in children with NF1.

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Exploring translational gaps between basic scientists, clinical researchers, clinicians, and consumers: Proceedings and recommendations arising from the 2020 mine the gap online workshop.

Osteoarthr Cartil Open

June 2021

Department of Rheumatology, Institute of Bone and Joint Research, Kolling Institute, Royal North Shore Hospital and Northern Clinical School, University of Sydney, Sydney, Australia.

Objective: To provide a summary of the translational gaps in musculoskeletal research as identified in the Mine the Gap workshop and propose possible solutions.

Methods: The Mine the Gap online workshop was hosted on October 14th and 15th, 2020. Five international panels, each comprised of a clinician, clinical researcher and basic scientist, presented gaps and proposed solutions for the themes of biomechanics, pain, biological measurements, phenotypes and imaging.

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Introduction: Crohn's disease and ulcerative colitis are common chronic idiopathic inflammatory bowel diseases (IBD), which cause considerable morbidity. Although the precise mechanisms of disease remain unclear, evidence implicates a strong multidirectional interplay between diet, environmental factors, genetic determinants/immune perturbations and the gut microbiota. IBD can be brought into remission using a number of medications, which act by suppressing the immune response.

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The impact of being overweight on the mobility, temporal-spatial and kinematic aspects of gait in children with cerebral palsy.

Obes Res Clin Pract

September 2021

Kids Rehab, The Children's Hospital at Westmead, Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.

Aim: Obesity causes altered gait patterns in typically developing children, but its effect on gait in children with physical disabilities is largely unknown. This study explores associations between body mass index (BMI), functional mobility and gait in children with cerebral palsy (CP).

Method: An observational cross-sectional study was conducted using three-dimensional gait analysis data from 197 children with CP, Gross Motor Functional Classification System (GMFCS) levels I to III.

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Objectives: To describe the experiences, priorities, and needs of patients with rheumatic disease and their parents during transition from paediatric to adult healthcare.

Setting: Face-to-face and telephone semistructured interviews were conducted from December 2018 to September 2019 recruited from five hospital centres in Australia.

Participants: Fourteen young people and 16 parents were interviewed.

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Aim: This study aimed to describe the current management practices for Kawasaki disease (KD) in Australia and New Zealand.

Methods: We performed a secondary analysis on the Australian and New Zealand responses to a large international survey of clinicians' perspectives on KD diagnosis and management.

Results: There was general consensus among Australian and New Zealand clinicians regarding the indications for intravenous immunoglobulin and aspirin in the management of acute KD.

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Background And Objectives: Presymptomatic testing is available for early diagnosis of hereditary autosomal dominant polycystic kidney disease (ADPKD). However, the complex ethical and psychosocial implications can make decision-making challenging and require an understanding of patients' values, goals and priorities. This study aims to describe patient and caregiver beliefs and expectations regarding presymptomatic testing for ADPKD.

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Aim: This study aims to examine the adverse event (AE) rate for intrathecal baclofen (ITB) therapy in an Australian paediatric population and to clarify type and frequency of AEs.

Methods: AE data were extracted from the Australian Paediatric ITB Research Group national database, to include the first 5 years of data collection. Raw data were collated and analysed descriptively.

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Associations between double-checking and medication administration errors: a direct observational study of paediatric inpatients.

BMJ Qual Saf

April 2021

Centre for Health Systems and Safety Research, Australian Institute of Health Innovation, Macquarie University, Sydney, New South Wales, Australia.

Background: Double-checking the administration of medications has been standard practice in paediatric hospitals around the world for decades. While the practice is widespread, evidence of its effectiveness in reducing errors or harm is scarce.

Objectives: To measure the association between double-checking, and the occurrence and potential severity of medication administration errors (MAEs); check duration; and factors associated with double-checking adherence.

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Introduction: Immigration detention has a profound and negative impact on the physical health, mental health, development and social-emotional well-being of children, adolescents and their families. Australian clinicians will report results from detailed health and well-being assessments of asylum seeking children and adolescents who have experienced prolonged immigration detention.

Methods And Analysis: This is a national, multicentre study with a longitudinal cohort design that will document health and well-being outcomes of the children and adolescents who have been detained in offshore detention on the remote island of Nauru.

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