Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene. ...

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

The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials. ...

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

This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2009
• February 2009

Feeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the... ...

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

To describe and explore carer quality of life and night-time attendance to their child in parents of non-ambulant youth with Neuromuscular Disorders. A cross-sectional population-based, comprehensive survey including the Adult Carer questionnaire, measures of social context and youths' physical status. Associations between carer-QoL or frequency of parents' night-time attendance with independent variables were explored using linear and logistic regression models, respectively. ...

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

Mental wellbeing was independently associated with academic achievement and perceived family support but not with physical health variables ...

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

This study aimed to explore the factors that predict functioning in families with a child with Down syndrome using a mixed methods design. ...

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

Rett syndrome is a severe neurodevelopmental disorder that typically affects females. Little is known about the natural history and survival time of these femal ...

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

Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic... ...

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

Rett syndrome (RTT) is a genetically caused neurodevelopmental disorder associated with severe disability. We assessed the feasibility of a telehealth program supporting gross motor skills in RTT. Five girls with RTT were assessed and a home-based exercise program developed in response to functional goals. Families then participated in monthly Skype sessions for 6 months, guided by a physiotherapist to monitor progress and adjust the program as necessary. ...

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