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

To describe patterns and demographic characteristics of total-population hospital admissions with a diagnosis of Treacher Collins syndrome (TCS) in Australia. ...

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

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

Aboriginal community members throughout the Kimberley will take a lead role in driving healthy skin messages within their own communities thanks to a major funding boost to the Telethon Kids Institute’s SToP Trial. ...

• 1. Telethon Kids Institute
• News & Events
• News & Events at Telethon Kids
• 2019
• August

The purpose of this review was to describe literature relating to transition for young people with an intellectual disability and identify knowledge base gaps. ...

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

Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS Registry to evaluate associations between child behaviours and caregiver mental well-being. ...

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

In addition to providing pathogen-specific immunity, vaccines can also confer nonspecific effects (NSEs) on mortality and morbidity unrelated to the targeted disease. Immunisation with live vaccines, such as the BCG vaccine, has generally been associated with significantly reduced all-cause infant mortality. In contrast, some inactivated vaccines, such as the diphtheria, tetanus, whole-cell pertussis (DTPw) vaccine, have been controversially associated with increased all-cause mortality especially in female infants in high-mortality settings. ...

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