We have undertaken to validating the specificity of commercially available antibodies marketed for flow cytometry to measure PKCα, βI, βII, δ, ε, η, θ, ζ, ι/λ and μ ...

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

There is no consensus about which outcomes should be evaluated in studies of pulmonary exacerbations in people with cystic fibrosis (CF). Outcomes used for evaluation should be meaningful; that is, they should capture how people feel, function or survive and be acknowledged as important to people with CF, or should be reliable surrogates of those outcomes. We aimed to summarise the outcomes and corresponding endpoints which have been reported in studies of pulmonary exacerbations, and to identify those which are most likely to be meaningful. ...

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

Here, we summarize and discuss findings of randomized clinical trials that have examined the effects of these strategies on short and long-term. ...

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

We aimed to investigate the long-term effects (12 years) of fish oil supplementation in pregnancy on neurodevelopment, including cognition, language and fine... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• March 2015

Gut microbiome patterns have been associated with predisposition to eczema potentially through modulation of innate immune signalling. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• April 2015

The aim of this study was to determine whether supplementation with fish oil-derived n-3 PUFA during pregnancy modifies modifies placental PUFA composition... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• January 2015

Desiree Susan Professor Catherine Jane Silva Prescott Elliott Valentine DS SL CE JV MBBS, FRACP, MPH, PhD MBBS BMedSci PhD FRACP PhD, BSc (OT) MBBs MRCP ( Edin ) FRACP FARM PhD Co-Head, The ORIGINS Project Honorary Research Fellow Director, ...

• 1. Telethon Kids Institute
• Projects

Vitamin D deficiency in a predominantly white Caucasian cohort of pregnant women is less prevalent than has been reported in other studies ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• January 2016

More needs to be done to address alcohol-related harm, and on-going monitoring is required to assess the effectiveness of strategies. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• May 2016

Cyclin-dependent kinase-like 5 (CDKL5) gene pathogenic variants result in CDKL5 deficiency disorder (CDD). Early onset intractable epilepsy and severe developmental delays are prominent symptoms of CDD. Comorbid sleep disturbances are a major concerning symptom for families. ...

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

Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are needed for future clinical trials to be successful. This study aimed to adapt the Rett Syndrome Hand Function Scale for CDKL5 deficiency disorder and evaluate its feasibility, acceptability, content validity, and reliability. ...

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

The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• January 2016