Bone mass and density are low in females with Rett syndrome. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• January 2015

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

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

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

Intellectual and developmental disabilities are heterogeneous in aetiology and presentation, and one cannot make assumptions about the oral health barriers of those with Rett syndrome (RTT) based on findings from generic studies. This study investigated caregivers' perceptions regarding access to dental care for those with RTT, and associations of dental treatments received by those with RTT with their caregivers' perceived value of oral health and perception of their own as well as their daughter's dental anxiety. ...

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

People with a disability may spend more time sitting and lying (“downtime”) and less time standing and walking (“uptime”). Caregivers and therapists supporting individuals with Rett syndrome were surveyed, aiming to gather insights on how to support participation in “uptime” activities. ...

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

Early presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis ...

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

This paper reviews the disorder Rett syndrome and evidence for the management of scoliosis and poor growth within a clinical ethics framework ...

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

This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• January 2015

This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and... ...

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

This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and... ...

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

This study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis. ...

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

The prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management ...

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