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

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

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

Helen Peter Leonard Jacoby HM PJ MBChB MPH BA (Hons) MSc Principal Research Fellow Biostatistician +61 419 956 946 helen.leonard@telethonkids.org.au ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• September 2010

Involvement in healthcare decisions is associated with better health outcomes for patients. For children and adolescents with intellectual disability, parents and healthcare professionals need to balance listening to a child's wishes with the responsibility of keeping them safe.  ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• June 2024

Mothers of a child with intellectual disability (ID) have more psychiatric disorders after the birth of their child than other mothers. ...

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

The purpose of this study is to describe the social participation of young adults with Down syndrome and examine its relationship with the physical and... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• September 2014

Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2007
• November 2007

This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2006
• March 2006