The clinical process for being evaluated for an autism diagnosis is often time consuming and stressful for individuals and their caregivers. While experience of and satisfaction with the diagnostic process has been reviewed in the literature, few studies have directly investigated the viewpoints of individuals diagnosed with autism and caregivers of autistic individuals about what is important in the autism diagnostic process. ...

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

The Rett Syndrome Gross Motor Scale (RSGMS) is an observational measurement, assessing gross motor skills in individuals with Rett syndrome. A Dutch version is lacking. The current study aims to translate and cross-culturally adapt the original RSMGS to Dutch and assess its inter-rater and intra-rater reliability. ...

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

Research focused on Down syndrome has increased in the last several years to advance understanding of the consequences of trisomy 21 (T21) on molecular and cellular processes and, ultimately, on individuals with Down syndrome. The Trisomy 21 Research Society (T21RS) is the premier scientific organization for researchers and clinicians studying Down syndrome. ...

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

T-cell activation induces context-specific gene expression programs that promote energy generation and biosynthesis, progression through the cell cycle and ultimately cell differentiation. The aim of this study was to apply the omni ATAC-seq method to characterize the landscape of chromatin changes induced by T-cell activation in mature naïve CD4+ T-cells. ...

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

This study evaluated the efficacy of using a hybrid closed loop system in restoring hypoglycemia awareness in individuals with impaired awareness of hypoglycemia. Participants with IAH (Gold score ≥4) were recruited into a randomized crossover pilot study. ...

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

Children with adverse childhood experiences (ACEs) can have difficulty adapting to the school context and may therefore be more likely to be suspended. We examined the association between ACEs and suspensions using linked administrative data on children born in Western Australia from July 2003–June 2004. ...

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

Infectious diseases such as tuberculosis (TB), malaria and soil-transmitted helminthiasis continue to impose a significant global health burden and socio-economic impact. Globally, minority indigenous people are disproportionately affected by poverty and are shown to experience a disparate burden of disease and poorer health outcomes than the comparative majority population. ...

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

Sensitive and non-invasive surveillance tools are needed for the clinical management of infants and preschool children with cystic fibrosis (CF). The lung clearance index from the multiple breath washout and functional and morphological outcomes from magnetic resonance imaging provide promising alternatives to current gold standard techniques. Early detection and treatment of lung disease during this important period offers the opportunity to improve the quality of life for individuals with CF. ...

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

Intra-individual transient temporal fluctuations in brain signal, as measured by fMRI blood oxygenation level dependent (BOLD) variability, is increasingly considered an important signal rather than measurement noise. ...

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

Early intervention within First Episode Psychosis (FEP) recovery efforts support functional recovery in several ways, including increasing levels of (1) physical activity (2) life skills, and (3) social connectivity. Sport has been proposed as an ideal platform to target these three goals simultaneously. ...

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

Human movement drives spatial transmission patterns of infectious diseases. Population-level mobility patterns are often quantified using aggregated data sets, such as census migration surveys or mobile phone data. These data are often unable to quantify individual-level travel patterns and lack the information needed to discern how mobility varies by demographic groups. Individual-level datasets can capture additional, more precise, aspects of mobility that may impact disease risk or transmission patterns and determine how mobility differs across cohorts; however, these data are rare, particularly in locations such as sub-Saharan Africa. ...

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

Anaesthesia related mortality in paediatrics is rare. There are limited data describing paediatric anaesthesia related mortality. This study determined the anaesthesia related mortality at a Tertiary Paediatric Hospital in Western Australia. ...

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