This study investigated the influence of factors at birth and in infancy on the likelihood of achieving major motor milestones in CDKL5 Deficiency Disorder (CDD). Data on 350 individuals with a pathogenic CDKL5 variant was sourced from the International CDKL5 Disorder Database. ...

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

There are no well-established biomedical treatments for the core symptoms of autism spectrum disorder (ASD). A small number of studies suggest that repetitive transcranial magnetic stimulation (rTMS), a non-invasive brain stimulation technique, may improve clinical and cognitive outcomes in ASD. ...

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

Brown adipose tissue (BAT) may be an important metabolic regulator of whole-body glucose. While important roles have been ascribed to macrophages in regulating metabolic functions in BAT, little is known of the roles of other immune cells subsets, particularly dendritic cells (DCs). Eating a high-fat diet may compromise the development of hematopoietic stem and progenitor cells (HSPCs)-which give rise to DCs-in bone marrow, with less known of its effects in BAT. We have previously demonstrated that ongoing exposure to low-dose ultraviolet radiation (UVR) significantly reduced the 'whitening' effect of eating a high-fat diet upon interscapular (i) BAT of mice. ...

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

B cells are critical to the development of multiple sclerosis (MS), but the mechanisms by which they contribute to the disease are poorly defined. We hypothesised that the expression of CD32b (FcγRIIb), a receptor for the Fc region of IgG with inhibitory activities in B cells, is lower on B cell subsets from people with clinically isolated syndrome (CIS) or MS. CD32b expression was highest on post-naive IgM+ B cell subsets in healthy controls. For females with MS or CIS, significantly lower CD32b expression was identified on IgM+ B cell subsets, including naive and IgMhi MZ-like B cells, when compared with control females. Lower CD32b expression on these B cell subsets was associated with detectable anti-Epstein Barr Virus viral capsid antigen IgM antibodies, and higher serum levels of B cell activating factor. To investigate the effects of lower CD32b expression, B cells were polyclonally activated in the presence of IgG immune complexes, with or without a CD32b blocking antibody, and the expression of TNF and IL-10 in B cell subsets was assessed. ...

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

Medulloblastoma is the most common malignant childhood brain tumor, and 5-year overall survival rates are as low as 40% depending on molecular subtype, with new therapies critically important. As radiotherapy and chemotherapy act through the induction of DNA damage, the sensitization of cancer cells through the inhibition of DNA damage repair pathways is a potential therapeutic strategy. ...

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

Energy drinks (EDs) claim to boost mental performance, however, few studies have examined the prospective effects of EDs on mental health. This study examined longitudinal associations between ED use and mental health symptoms in young adults aged 20 years over a 2-year period. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• November 2020

This study provides the first evidence for the association between restricted and repetitive behaviors and age of attainment of early motor milestones. ...

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

The identification of differences in the facial phenotype of individuals with ASC may contribute to efforts to promote early identification of the condition and help elucidate etiological pathways. ...

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

Adam Punam Susan Tolu Saddler Amratia Rumisha Okitika AS PA SR TO PhD PhD PhD (Biostatistics) BSc, MPH, PMP Research Officer Honorary Research Associate Honorary Research Associate Senior Program Manager; Deputy Theme Head, Brain and Behaviour ...

• 1. Telethon Kids Institute
• Projects

Keely Leanne Bebbington Fried KB LF MClinPsych/PhD BSc DipEd MSpEd EdD McCusker Postdoctoral Research Fellow in Type 1 Diabetes Senior Research Fellow 08 6319 1766 08 6319 1480 keely.bebbington@telethonkids.org.au Leanne.Fried@telethonkids.org.au ...

• 1. Telethon Kids Institute
• Projects

Yael Penelope Helen Perry Strauss Morgan YP PS HM BPsych (Hons) MPsych (Clin) PhD BA, MPH, PhD BA (Hons), Doctor of Psychology Program Head, Mental Health & Youth; Head, Youth Mental Health Research Fellow in Youth Suicide Prevention Senior Project ...

• 1. Telethon Kids Institute
• Projects

Ellen Yasmin Rosemary Harvey Harman-Smith Cahill EH YHS RC BSocWk(Hons) BA, BHlthSc(Hons), PhD EdD, MEd, BEd(Hons) Senior Project Coordinator Head, Early Years Systems Evidence; Head, Tenders Support Unit Principal Research Fellow (08) 6375 6117 ...

• 1. Telethon Kids Institute
• Projects
• Past projects