The prevalence of multiple sclerosis follows a latitude gradient, with increased disease at higher latitudes. ...

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

Some studies suggest an association between early exposure to anesthesia, surgery and long term developmental deficit, clinical phenotype of children is unknown ...

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

CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to be a developmental and epileptic encephalopathy because of the early onset of seizures in association with severe global delay. Other features include cortical visual impairment, sleep and gastro-intestinal problems. Progress in clinical understanding, especially regarding the spectrum of functional ability, seizure patterns, and other comorbidities was initially slow but accelerated in 2012 with the establishment of the International CDKL5 Database (ICDD). Our aim was to use this data source to investigate quality of life (QOL) and associated factors in this disorder. ...

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

Our findings highlight the potential of salinomycin to induce DNA lesions and inhibit homologous recombination to greatly enhance the effect of radiotherapy ...

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

The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• March 2013

Our findings contribute to the genotype–phenotype data for atypical nested 22q11.2 duplications, with implications for genetic counseling ...

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

Liz Tim Davis Jones EA TW MBBS FRACP PhD MBBS DCH FRACP MD Head, Chronic & Severe Diseases Research Focus Area; Clinical Lead, Diabetes and Obesity Research Co-head, Diabetes and Obesity Research Head, Chronic & Severe Diseases Research Focus Area; ...

• 1. Telethon Kids Institute
• Our research
• Chronic and Severe Diseases
• Diabetes, Metabolism and Clinical Sciences
• Diabetes and Obesity Research
• Expired Projects

We have demonstrated that a single dose of a closely related commensal can delay onset of NTHi otitis media in vivo ...

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

Benzathine penicillin G has been used as monthly deep intramuscular (IM) injections since the 1950s for secondary prevention of acute rheumatic fever and rheumatic heart disease (RHD). Injection frequency and pain are major programmatic barriers for adherence, prompting calls for development of better long-acting penicillin preparations to prevent RHD. ...

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

Ruth Elke Peter Thornton Seppanen Richmond RT ES PC PhD BSc PhD MBBS MRCP(UK) FRACP Co-head, Bacterial Respiratory Infectious Disease Group (BRIDG) Program Manager, Bacterial Respiratory Infectious Disease Group Head, Vaccine Trials Group ...

• 1. Telethon Kids Institute
• Projects

Our study suggests that vagus nerve stimulation is a generally safe and effective adjunct treatment for CDKL5-associated epilepsy ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• July 2018

The epidemiology of invasive meningococcal disease has changed over the last decade and there has been an increase in cases caused by serogroup W135, particularly in Indigenous children. Extra‐meningeal and atypical presentations are associated with serogroup W and may delay diagnosis and therefore appropriate treatment. Public and clinician awareness are essential in facilitating effective new vaccine schedule implementation. ...

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