It is biologically plausible that risk of autism spectrum disorder (ASD) is elevated by both short and long interpregnancy intervals (IPI). We conducted a retrospective cohort study of singleton, non-nulliparous live births. ...

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

Front-line staff routinely exposed to aerosol-generating procedures are at a particularly high risk of transmission of severe acute respiratory syndrome coronavirus. We aimed to assess the adequacy of respiratory protection provided by available N95/P2 masks to staff routinely exposed to aerosol-generating procedures. ...

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

To determine the seroprevalence of selected zoonotic viral hemorrhagic fevers (VHFs) and their associated risk factors in Tanzania. ...

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

To determine the effect of diurnal exercise timing on appetite, energy intake and body composition in individuals with overweight or obesity. ...

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

Adolescents and young adults with chronic medical conditions report higher distress and lower wellbeing than their physically healthy peers. Previous research suggests that self-compassion is negatively correlated with distress and positively correlated with wellbeing among healthy young people, as well as adults with chronic medical conditions. ...

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

The gut microbiota is influenced by environmental factors such as food. Maternal diet during pregnancy modifies the gut microbiota composition and function, leading to the production of specific compounds that are transferred to the fetus and enhance the ontogeny and maturation of the immune system. Prebiotics are fermented by gut bacteria, leading to the release of short-chain fatty acids that can specifically interact with the immune system, inducing a switch toward tolerogenic populations and therefore conferring health benefits. ...

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

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
• 2021
• September 2021

Anaphylaxis is a severe, potentially life-threatening allergic reaction driven primarily by the activation of mast cells. We still fail to understand factors underlying reaction severity. Furthermore, there is currently no reliable diagnostic test to confirm anaphylaxis in the emergency department. ...

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

Patients with glucocorticoid-dependent Duchenne muscular dystrophy (DMD) have increased fracture risk and reduced bone mineral density (BMD), often precipitating mobility loss. ...

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

Citation: Turrell G, Nathan A, Burton NW, Brown WJ, McElwee P, Barnett AG, et al. Cohort Profile: HABITAT-a longitudinal multilevel study of physical activity, sedentary behaviour and health and functioning in mid-to-late adulthood. Int J Epidemiol. ...

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

Medulloblastoma (MB) consists of four core molecular subgroups with distinct clinical features and prognoses. Treatment consists of surgery, followed by radiotherapy and cytotoxic chemotherapy. Despite this intensive approach, outcome remains dismal for patients with certain subtypes of MB, namely, MYC-amplified Group 3 and TP53-mutated SHH. Using high-throughput assays, six human MB cell lines were screened against a library of 3208 unique compounds. We identified 45 effective compounds from the screen and found that cell cycle checkpoint kinase (CHK1/2) inhibition synergistically enhanced the cytotoxic activity of clinically used chemotherapeutics cyclophosphamide, cisplatin, and gemcitabine. ...

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

Characterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants. ...

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