Rett syndrome (RTT) is a severe neurodevelopmental disorder associated with multiple neurobehavioral abnormalities. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed for pediatric RTT observational studies. Because its application has expanded to adult and interventional studies, we evaluated the RSBQ's psychometric properties in six pediatric (n = 323) and five adult (n = 309) datasets. ...

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

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. ...

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

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

A comparison of parents’ experiences of getting a diagnosis for their child with autism, attention deficit hyperactivity disorder (ADHD) and both diagnoses can inform our understanding of common and unique themes across these neurodevelopmental conditions. ...

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

Research has shown differences in how fathers and mothers respond to a child's cancer diagnosis. Previous studies have highlighted that sociocultural norm shape fathers' experiences of their child's cancer diagnosis. Our phenomenological qualitative study aimed to examine the lived experiences of fathers whose children have been diagnosed with cancer and explore the impact of sociocultural gender roles. ...

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

To present a case study of the considerations of mandatory fortification with folic acid in Australia and New Zealand. ...

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

Lung transcriptomics studies in asthma have provided valuable information in the whole lung context, however, deciphering the individual contributions of the airway and parenchyma in disease pathogenesis may expedite the development of novel targeted treatment strategies. In this study, we performed transcriptomics on the airway and parenchyma using a house dust mite (HDM)-induced model of experimental asthma that replicates key features of the human disease. ...

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

Respiratory syncytial virus is the second most common cause of infant mortality and a major cause of morbidity and mortality in older adults (aged >60 years). Efforts to develop a respiratory syncytial virus vaccine or immunoprophylaxis remain highly active. ...

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

This article provides a contemporary report on the role of adipose tissue in respiratory dysfunction. Adipose tissue is distributed throughout the body, accumulating beneath the skin (subcutaneous), around organs (visceral), and importantly in the context of respiratory disease, has recently been shown to accumulate within the airway wall: "airway-associated adipose tissue." Excessive adipose tissue deposition compromises respiratory function and increases the severity of diseases such as asthma. ...

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

Research in psychopharmacology in children and adolescents is an area of growing interest with numerous newer modalities becoming available in recent years. Nevertheless, it still lags significantly behind research in adult psychopharmacology although, in the last decade, the gap is beginning to be bridged with FDA approval for newer agents for the paediatric age group. ...

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

This study systematically reviewed Australian literature to determine if an association exists between geospatial exposure to food outlets and diet, health or weight status. Recommendations for future research are provided. ...

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

Despite substantial declines since 2000, lower respiratory infections (LRIs), diarrhoeal diseases, and malaria remain among the leading causes of nonfatal and fatal disease burden for children under 5 years of age (under 5), primarily in sub-Saharan Africa. ...

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