This study explored how children and adolescents with a neuromuscular disorder (NMD) and their parents experienced barriers and enablers to the child's participation. ...

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

Rearrangements of the Mixed Lineage Leukemia (MLL/KMT2A) gene are present in approximately 10% of acute leukemias and characteristically define disease with poor outcome. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• May 2022

Macrophages are the major resident immune cells in human airways coordinating responses to infection and injury. In cystic fibrosis, neutrophils are recruited to the airways shortly after birth, and actively exocytose damaging enzymes prior to chronic infection, suggesting a potential defect in macrophage immunomodulatory function. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• June 2022

Developmental theory and previous studies support the potential value of prodromal interventions for infants at elevated likelihood of developing autism. Past research has supported the efficacy of parent-mediated prodromal therapies with infants from as early as 7 months. We outline the rationale for implementing interventions following this model from even earlier in development and report on the feasibility of a novel intervention developed following this model of parent-mediated infant interventions. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• June 2022

Respiratory syncytial virus (RSV) is the most common cause of acute lower respiratory infection in young children. We previously estimated that in 2015, 33·1 million episodes of RSV-associated acute lower respiratory infection occurred in children aged 0-60 months, resulting in a total of 118 200 deaths worldwide. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• May 2022

Respiratory syncytial virus (RSV) and influenza are important causes of disease in children and adults. In Australia, information on the burden of RSV in adults is particularly limited. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• June 2022

Genome-wide association studies (GWAS) have enabled the discovery of single nucleotide polymorphisms (SNPs) that are significantly associated with many autoimmune diseases including type 1 diabetes (T1D). However, many of the identified variants lie in non-coding regions, limiting the identification of mechanisms that contribute to autoimmune disease progression. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• June 2022

Emerging evidence indicates that the built environment influences early child development. Access to, and the quality of, built environment features vary with the socioeconomic status (SES) of neighbourhoods. It has not yet been established whether the association between built environment features and early child development varies by neighbourhood SES. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• June 2022

A survey of 136 articles published in 2019 (sampled at random) was conducted to determine whether a statement about missing data was included. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• May 2022

The Bacille-Calmette–Guerin (BCG) vaccination remains the primary strategy to prevent severe disseminated TB in young children, particularly in high TB-burden countries such as Ethiopia. Accurate knowledge of vaccination coverage in small geographical areas is critically important to developing targeted immunization campaigns. Thus, this study aimed to investigate the spatiotemporal distributions and ecological level determinants of BCG vaccination coverage in Ethiopia. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• June 2022