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

Introduction Fetal Alcohol Spectrum Disorder (FASD) is a neurodevelopmental disorder caused by prenatal alcohol exposure (PAE). FASD research is a rapidly growing field that crosses multiple disciplines. To ensure research is relevant and meaningful for people living with FASD, their families, and the broader public there is a need to engage community members in setting priorities for research. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• December 2020

Emma Helen Jenny Peter Glasson Leonard Downs Jacoby EJ HM JA PJ BPsych BSc (Hons) PhD MBChB MPH BApplSci (physio) MSc PhD BA (Hons) MSc Senior Research Fellow Principal Research Fellow Program Head, Development and Disability Biostatistician +61 ...

• 1. Telethon Kids Institute
• Projects

CDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials.  ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• February 2024

Developmental Coordination Disorder (DCD) is a neurodevelopmental condition impacting motor skill acquisition and competence. While previous studies have identified adverse psychosocial outcomes in DCD, they are limited by small or population-screened, community-based samples. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• January 2024

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 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

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

The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres. ...

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

There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors. ...

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

To evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome. ...

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