Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,... ...

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

Information on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a... ...

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

MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy... ...

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

A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT). ...

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

Behavioural support for young people with Prader-Willi syndrome (PWS) is necessary in home and school environments. The Trauma Informed Practice (TIP) framework has been used to support young people with complex behavioural needs in school settings. To identify parent and professional perspectives on behavioural challenges experienced by young people with PWS and strategies for supports, to inform understanding of how they are aligned with the TIP framework. ...

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

This study explored facilitators and barriers to "uptime" (non-sedentary) activities in Danish girls and women with Rett syndrome ...

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

This chapter reviews the prevalence, characteristics, and clinical management of orthopedic problems in RTT. ...

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

The objective of this study was to evaluate areas of clinical uncertainty among pediatric spine surgeons regarding the treatment of early-onset scoliosis. ...

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