Rett syndrome is associated with severe functional impairments and many comorbidities, each in urgent need of treatments. Mutations in the MECP2 gene were identified as causing Rett syndrome in 1999. Over the past 20 years there has been an abundance of preclinical research with some studies leading to human clinical trials. ...

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

Children with comorbidities are at greater risk of severe influenza outcomes compared with healthy children. In Australia, influenza vaccination was funded for those with comorbidities from 2010 and all children aged <5 years from 2018. Influenza vaccine coverage remains inadequate in children with and without comorbidities. ...

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

Hemiplegic cerebral palsy (hCP) typically impacts sensorimotor control of the hand, but comprehensive assessments of the hands of children with hCP are relatively rare. This scoping review summarizes the development of hand function for children with hCP. ...

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

To investigate in a population-based pediatric cohort: prevalence of moderate-severe diabetic ketoacidosis at type 1 diabetes diagnosis over two decades and its association with long-term glycemic control. ...

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

ATP Binding Cassette Subfamily A Member 3 (ABCA-3) is a lipid transporter protein highly expressed in type-II alveolar (AT-II) cells. Mutations in ABCA3 can result in severe respiratory disease in infants and children. To study ABCA-3 deficiency in vitro, primary AT-II cells would be the cell culture of choice although sample accessibility is limited. Our aim was to investigate the suitability of primary nasal epithelial cells, as a surrogate culture model for AT-II cells, to study ABCA-3 deficiency. ...

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

To test the internal validity of the test-negative design (TND) by investigating associations between maternal influenza vaccination, and new virus detection episodes (VDEs), acute respiratory illness, and healthcare visits in their children. ...

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

Pre-existing pathogen-specific memory T cell responses can contribute to multiple adverse outcomes including autoimmunity and drug hypersensitivity. How the specificity of the T cell receptor (TCR) is subverted or seconded in many of these diseases remains unclear. Here, we apply abacavir hypersensitivity (AHS) as a model to address this question because the disease is linked to memory T cell responses and the HLA risk allele, HLA-B*57:01, and the initiating insult, abacavir, are known. ...

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

Citation: Reid A, Bowen AC, Brennan-Jones CG, Kuthubutheen JB. Congenital cytomegalovirus: the case for targeted infant screening in Australia. Med J ...

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

Little is known about the extent, perceptions or experiences of consumers involved in clinical trials across Australia. The purpose of this National study was to better understand the activity and perceptions of clinical trial networks (CTNs), research co-ordinating centres and their consumers, around consumer involvement in clinical trials. ...

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

Britta Regli-von Ungern-Sternberg BRVUS MD, PhD, DEAA, FANZA Chair of Paediatric anaesthesia, University of Western Australia; Consultant Paediatric ...

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