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

The study investigated the effect of seizure and medication burden at initial contact with the International CDKL5 Disorder Database on subsequent development and clinical severity and compared quality of life among those whose development progressed, remained stable, or regressed between baseline and follow-up. ...

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

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

Despite the existence of a national alcohol guideline for breastfeeding women, maternal health practitioners are not incorporating this advice ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• April 2019

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

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

ORIGINS is moving to virtual appointments and couriers to collect home samples during the June 2021 Perth lockdown. ...

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