Quantification of the disease burden caused by different risks informs prevention by providing an account of health loss different to that provided by a... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• December 2012

This study tested the utility of optical coherence tomography-based indentation to assess mechanical properties of respiratory tissues in disease ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• May 2017

An empirically based understanding of the factor structure of the restricted and repetitive behaviors (RRB) domain is a prerequisite for interpreting studies attempting to understand the correlates and mechanisms underpinning RRB and for measurement development. Therefore, this study aimed to conduct a systematic review and meta-analysis of RRB factor analytic studies. ...

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

The Repetitive Behaviours Questionnaire for Adults (RBQ-2A) measures two factors of restricted and repetitive behaviours (RRBs) associated with autism. However, the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) provides four criteria for RRBs: repetitive motor behaviours, insistence on sameness, restricted interests, and interest in sensory aspects of the environment (or atypical sensitivity). ...

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

X-linked hypophosphataemia (XLH), the most common inherited form of rickets, is caused by a PHEX gene mutation that leads to excessive serum levels of fibroblast growth factor 23 (FGF23). This leads to clinical manifestations such as rickets, osteomalacia, pain, lower limb deformity and overall diminished quality of life. ...

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

Cytokines in milk like transforming growth factor-beta (TGF-beta) have been shown to induce oral tolerance in experimental animal studies ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• February 2010

The ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the ERF gene cause variable craniosynostosis inherited in an autosomal dominant pattern. The reported ERF variants are largely loss-of-function, implying haploinsufficiency as a primary disease mechanism; however, ERF gene deletions have not been reported previously. Here we describe three probands with macrocephaly, craniofacial dysmorphology, and global developmental delay. ...

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

Scabies is an important predisposing factor of impetigo which can lead to serious bacterial complications. Ivermectin-based mass drug administration can substantially reduce scabies and impetigo prevalence in endemic settings, but the impact on serious bacterial complications is not known. ...

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

Alexithymia is a trait involving difficulties identifying feelings, difficulties describing feelings, and an externally orientated thinking style. It is an important risk factor for a range of psychopathologies, and its assessment is therefore important in research and clinical settings. Originally created in English, the Perth Alexithymia Questionnaire-Short Form (PAQ-S) is a brief 6-item self-report measure of alexithymia.  ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• February 2024

Obesity as a major risk factor for childhood hypertension necessitates careful blood pressure (BP) monitoring of those affected. This study aimed to compare BP classification in a cohort of children affected by obesity using tables versus digital calculations in two sets of guidelines. ...

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

This study aimed to investigate whether multifactor scales of mindfulness can be used in adolescents. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• March 2017

Obesity is a contributing factor to asthma severity; while it has long been understood that obesity is related to greater asthma burden, the mechanisms though which this occurs have not been fully elucidated. One common explanation is that obesity mechanically reduces lung volume through accumulation of adipose tissue external to the thoracic cavity. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• April 2024