The broadening of the clinical definition of autism over time-the so-called, autism spectrum-has run in parallel with the growth of a neurodiversity movement that has reframed the concept of autism entirely. Without a coherent and evidence-based framework through which both of these advances can be situated, the field is at risk of losing definition altogether. ...

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

Lung function testing and lung imaging are commonly used techniques to monitor respiratory diseases, such as cystic fibrosis (CF). The nitrogen (N2) multiple-breath washout technique (MBW) has been shown to detect ventilation inhomogeneity in CF, but the underlying pathophysiological processes that are altered are often unclear. ...

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

Young people who have had contact with the criminal justice system are at increased risk of early death, especially from injuries. However, deaths due to non-communicable diseases (NCDs) in this population remain poorly described. We aimed to estimate mortality due to NCDs in people with a history of involvement with the youth justice system, compare NCD mortality rates in this population with those in the general population, and characterise demographic and justice-related factors associated with deaths caused by NCDs in people with a history of contact with the youth justice system. ...

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

Adverse pregnancy outcomes including maternal mortality, stillbirth, preterm birth, intrauterine growth restriction cause millions of deaths each year. More effective interventions are urgently needed. Maternal immunization could be one such intervention protecting the mother and newborn from infection through its pathogen-specific effects. ...

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

Ellis van Creveld syndrome and Weyers acrofacial dysostosis are two rare genetic diseases affecting skeletal development. They are both ciliopathies, as they are due to malfunction of primary cilia, microtubule-based plasma membrane protrusions that function as cellular antennae and are required for Hedgehog signaling, a key pathway during skeletal morphogenesis. ...

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

Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features. ...

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

Positive maternal mental health during the perinatal period contributes to general well-being and positive emotional bonds with the child, encouraging an optimal developmental trajectory. Online interventions to enhance maternal well-being and develop coping skills, such as meditation-based interventions, can be a low-cost way to improve mother and child outcomes. ...

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

Parental support is strongly correlated with protective factors for trans youth, however, most experience unsupportive parental attitudes. We aimed to better understand how youth perceive parental reactions to their gender identity disclosure and what they consider to be barriers to, and facilitators of, support. ...

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

The study aimed to better understand children's emergency perioperative experience, a little researched topic. Current literature shows discrepancies between child and adult perceptions for the same healthcare experience. Acquisition of knowledge from the child's perspective can be utilized to improve perioperative care. ...

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

Findings from longitudinal research, globally, repeatedly emphasise the importance of a taking an early life course approach to mental health promotion; one that invests in the formative years of development, from early childhood to young adulthood, just prior to the transition to parenthood for most. While population monitoring systems have been developed for this period, they are typically designed for use within discrete stages. ...

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