Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective. ...

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

Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome. ...

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

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

To evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome. ...

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

Intellectual disability affects more than 1.5% of the population of children in developing countries yet we know little about the daily lives and support... ...

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

In this paper, the issue of people with profound intellectual and multiple disabilities facing significant challenges to participating in their community is... ...

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

Existing quality of life scales for children in the general population or with other disabilities did not capture the QOL of children with Rett syndrome ...

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

This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations ...

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

This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2008
• August 2008

The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2008
• June 2008