CDKL5 deficiency disorder (CDD), a severe developmental and epileptic encephalopathy, is being diagnosed earlier with improved access to genetic testing, but this may also have unanticipated impacts on parents’ experience receiving the diagnosis. This study explores the lived experience of parents receiving a diagnosis of CDD for their child using mixed methods. ...

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

The immunological mechanisms that contribute to multiple sclerosis (MS) differ between males and females. Females are 2-3 times more likely to develop MS compared to males, however the reason for this discrepancy is unknown. Once MS is established, there is a more inflammatory yet milder form of disease in females whereas males generally suffer from more severe disease and faster progression, neural degradation, and disability. ...

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

To understand the prevalence of children and adolescents’ electronic device use (EDU) in the hour before bed and identify sociodemographic groups that are at increased risk of problematic use. ...

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

Although there are many benefits associated with working in academia, this career path often involves structural and organisational stressors that can be detrimental to wellbeing and increase susceptibility to psychological distress and mental ill health. This exploratory study examines experiences of work-related psychosocial stressors, psychological distress, and mental health diagnoses among mental health researchers. ...

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

Autism spectrum disorders are complex, with a strong genetic basis. Genetic research in autism spectrum disorders is limited by the fact that these disorders are largely heterogeneous so that patients are variable in their clinical presentations. To address this limitation, we investigated the genetics of individual dimensions of the autism spectrum disorder phenotypes, or autistic-like traits. These autistic-like traits are continuous variations in autistic behaviours that occur in the general population. ...

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

Britta Regli-von Ungern-Sternberg BRVUS MD, PhD, DEAA, FANZA Chair of Paediatric anaesthesia, University of Western Australia; Consultant Paediatric Anaesthetist, Perth Children’s Hospital; Team Leader, Perioperative Medicine Team; Program Lead, ...

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

In Australia, the number of young people presenting to the emergency department with mental health concerns, in particular, suicidal behaviour (defined here as suicidal ideation, thoughts, intent and attempts) is increasing. ...

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

To determine whether serum neurofilament light chain (sNfL) levels are suppressed in patients with the clinically isolated syndrome (CIS) following narrowband ultraviolet B phototherapy (UVB-PT). ...

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

The reported frequency and types of adverse events following initial vaccination and revaccination with Bacille Calmette-Guérin (BCG) varies worldwide. Using active surveillance in a randomised controlled trial of BCG vaccination (the BRACE trial), we determined the incidence and risk factors for the development of BCG injection site abscess and regional lymphadenopathy. ...

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

The coronavirus (COVID-19) pandemic has seen a global surge in anxiety, depression, post-traumatic stress disorder (PTSD), and stress. Aims: This study aimed to describe the perspectives of patients with COVID-19, their family, health professionals, and the general public on the impact of COVID-19 on mental health. ...

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

Due to global climate change–induced shifts in species distributions, estimating changes in community composition through the use of Species Distribution Models has become a key management tool. Being able to determine how species associations change along environmental gradients is likely to be pivotal in exploring the magnitude of future changes in species’ distributions. ...

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

Child temperament and caregiver psychological distress have been independently associated with social-emotional difficulties among individuals with autism. However, the interrelationship among these risk factors has rarely been investigated. ...

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