Here we focus on the problem of prioritising variants with respect to the observed disease phenotype ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• November 2019

Cardiovascular disease and type 2 diabetes mellitus are leading contributors to the health inequity experienced by Aboriginal and Torres Strait Islander peoples, and their antecedents can be identified from early childhood. We aimed to establish the quality of available data and the prevalence of cardiometabolic risk markers among Aboriginal and Torres Strait Islander children and youths (0-24-year-olds) to inform public health approaches. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• Jun 2023

Understanding hospital service use among children with a diagnosis of craniosynostosis is important to improve services and outcomes. This study aimed to describe population-level trends, patterns, and factors influencing hospitalizations for craniosynostosis in Western Australia. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• March 2023

Increases in invasive group A streptococcal disease (iGAS) have recently been reported in multiple countries in the northern hemisphere, occurring during, and outside of, typical spring peaks. We report the epidemiology of iGAS among children in Australia from 1 July 2018 to 31 December 2022. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• August 2023

B-cell acute lymphoblastic leukaemia (B-ALL) is characterised by diverse genomic alterations, the most frequent being gene fusions detected via transcriptomic analysis (mRNA-seq). Due to its hypervariable nature, gene fusions involving the Immunoglobulin Heavy Chain (IGH) locus can be difficult to detect with standard gene fusion calling algorithms and significant computational resources and analysis times are required. We aimed to optimize a gene fusion calling workflow to achieve best-case sensitivity for IGH gene fusion detection. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• September 2023

Invasive pulmonary aspergillosis remains a major cause of morbidity and mortality for immunocompromised children, particularly for patients with acute leukaemia and those undergoing haematopoietic stem cell transplantation. Timely diagnosis, using a combination of computed tomography (CT) imaging and microbiological testing, is key to improve prognosis, yet there are inherent challenges in this process. For CT imaging, changes in children are generally less specific than those reported in adults and recent data are limited. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• April 2023

T-cell lymphoblastic lymphoma (T-LBL) is a rare and aggressive lymphatic cancer, often diagnosed at a young age. Patients are treated with intensive chemotherapy, potentially followed by a hematopoietic stem cell transplantation. Although prognosis of T-LBL has improved with intensified treatment protocols, they are associated with side effects and 10-20% of patients still die from relapsed or refractory disease. Given this, the search toward less toxic anti-lymphoma therapies is ongoing. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• January 2023

Culturally and Linguistically Diverse (CALD) groups within high-income countries are at risk of being left behind by the COVID-19 vaccination rollout. They face both access and attitudinal barriers, including low trust in government and health authorities. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• October 2022

Acute flaccid paralysis (AFP) surveillance continues globally as part of the World Health Organization's goal to eradicate poliomyelitis. The Australian Paediatric Surveillance Unit, Paediatric Active Enhanced Disease Surveillance network, and National Enterovirus Reference Laboratory collaborate in AFP surveillance in Australia, capturing and reviewing cases of AFP for all aetiologies in order to exclude poliovirus. We aimed to describe the AFP epidemiology in childhood over an 11 year period. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• January 2023

Stephen Yuliya Stick Karpievitch SM YK MB BChir PhD MRCP FRACP PhD, MS, BS Head, P4 Respiratory Health for Kids Ai and Data Analytics Lead, Respiratory Research +61863191356 yuliya.karpievitch@telethonkids.org.au Head, P4 Respiratory Health for Kids ...

• Telethon Kids Institute
• Our research
• Chronic and Severe Diseases
• Respiratory Health Program
• P4 Respiratory Health for Kids

This study investigated dental hospitalisations in Western Australian (WA) children with intellectual disability (ID) and/or autism spectrum disorder (ASD) aged up to 18 years. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• June 2021

Infant acute lymphoblastic leukemia (ALL) is characterized by a high incidence of KMT2A gene rearrangements and poor outcome. We evaluated the value of minimal residual disease (MRD) in infants with KMT2A-rearranged ALL treated within the Interfant-06 protocol, which compared lymphoid-style consolidation (protocol IB) versus myeloid-style consolidation (araC, daunorubicin, etoposide/mitoxantrone, araC, etoposide). ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• January 2021