Disaggregation modeling, or downscaling, has become an important discipline in epidemiology. Surveillance data, aggregated over large regions, is becoming more common, leading to an increasing demand for modeling frameworks that can deal with this data to understand spatial patterns. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• May 2023

ZFTA-RELA (formerly known as c11orf-RELA) fused supratentorial ependymoma has been recognized as a novel entity in the 2016 WHO classification of CNS tumors and further defined in the recent 2021 edition. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• May 2023

Both fetal and tumor tissue microenvironments display immunosuppressive features characterized by the presence of specific immunomodulatory stromal and immune cell populations. Recently, we discovered shared microenvironments between hepatocellular carcinoma and fetal tissues and described this phenomenon as an oncofetal ecosystem. ...

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

Birk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in SLC30A9 presenting with a complex movement disorder, developmental regression, oculomotor abnormalities, and renal impairment. It has previously been reported in 2 families. We describe the clinical phenotype of 8 further individuals from 4 unrelated families with SLC30A9-related disease. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• May 2023

Preterm birth (PTB) and stillbirth remain two of the most important causes of death, morbidity, and disability in childhood. Despite efforts to reduce PTB and stillbirth worldwide, rates of these adverse outcomes remain persistently elevated, independent of income setting. There is an urgent need for more effective interventions to reduce associated neonatal and early childhood morbidity and mortality. ...

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

Clinical management of breast cancer (BC) metastasis remains an unmet need as it accounts for 90% of BC-associated mortality. Although the luminal subtype, which represents >70% of BC cases, is generally associated with a favorable outcome, it is susceptible to metastatic relapse as late as 15 years after treatment discontinuation. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• May 2023

Children with congenital heart defects (CHDs) are at higher risk of developing an intellectual disability. However, severity of intellectual disabilities among this group of children are largely unknown. Our objective was to determine the risk of intellectual disability (ID), ID severity, and autism among children with CHDs. ...

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

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

Shortage of ear, nose, and throat specialists in public hospitals can result in delays in the detection and management of otitis media. This study introduced a new hospital-based telehealth service, named the Ear Portal, and investigated its role in improving access to specialist care. ...

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

Parents must rapidly adapt goals from various aspects of their lives to accommodate the demands of the early stages of parenthood. According to the self-concordance model, having autonomous goal motives (based on enjoyment or personal goal value) should foster effective self-regulation (e.g., coping strategies), better goal management, and increase the likelihood of goal attainment, compared to controlled motives (goals driven by demands/pressures). ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• February 2023