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

Major increases in the survival of people with Down syndrome during the last two generations have resulted in extended periods of adulthood requiring... ...

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

Participation for girls and women with Rett syndrome could be enhanced by stronger local community supports. ...

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

This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• January 2011

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

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

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

This study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome. ...

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

The goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epilepsy,... ...

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

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

Helen Jenny Peter Leonard Downs Richmond HM JA PC MBChB MPH BApplSci (physio) MSc PhD MBBS MRCP(UK) FRACP Principal Research Fellow Program Head, Development and Disability Head, Vaccine Trials Group +61 419 956 946 08 6319 1763 helen.leonard@ ...

• 1. Telethon Kids Institute
• Projects

Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 946 08 6319 1763 helen.leonard@telethonkids.org.au Jenny.Downs@telethonkids.org.au Principal Research ...

• 1. Telethon Kids Institute
• Projects

Amy Andrew Helen Jenny Martyn Melissa Finlay-Jones Whitehouse Watch and listen to Andrew Leonard Downs Symons Licari AFJ AJ HM JA MS ML BPsych(Hons), MPsych(Clinical), MHealthEcon, PhD (Clin Psych) PhD MBChB MPH BApplSci (physio) MSc PhD B.A. (Hons ...

• 1. Telethon Kids Institute
• Projects