MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• July 2023

This study aimed to determine measurement properties of a modified 2MWT and a modified Rett syndrome-specific FMS-RS in Rett syndrome. ...

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

Quantifying individual's with Rett syndrome with the ability to walk, walking based activities and sedentary time, analyzing a variety of influences. ...

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

Epilepsy is pervasive but not mandatory for the CDKL5 disorder, and genotype and functional abilities were related to seizure frequency ...

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

Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• September 2012

Maternal pre-pregnancy obesity has been linked with an increased risk for negative emotionality and inattentiveness in offspring in early childhood. ...

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

Establishing the underlying cause in a child with chronic suppurative lung disease (CSLD) allows for targeted treatment and screening for associated complications. One cause of CSLD is primary ciliary dyskinesia (PCD). Testing for PCD requires specialist expertise which is not widely available. ...

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

Survival statistics, estimated using data from national cystic fibrosis (CF) registries, inform the CF community and monitor disease progression. This study aimed to estimate survival among people with CF in Australia and to identify factors associated with survival. ...

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

Protracted bacterial bronchitis (PBB) is a leading cause of chronic wet cough in children. The current standard treatment in European and American guidelines is 2 weeks of antibiotics, but the optimal duration of therapy is unknown. We describe the first randomised controlled trial to assess the duration of antibiotic treatment in children with chronic wet cough and suspected PBB. ...

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

At Telethon Kids our greatest asset is our people. We are strongly invested in the future of child medical research welcoming, nurturing, and encouraging the best and most innovative Australian and international researchers. ...

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• 2023
• January