Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls. ...

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

Developmental Coordination Disorder is a lifelong disability impacting most aspects of daily living that involve movement. With an estimated prevalence of ~5% of children, the disorder affects an average of one to two children in every Australian classroom. ...

• 1. Telethon Kids Institute
• Our research
• Research Topics

Peter Shelley Jacoby Gorman PJ S BA (Hons) MSc BSc (Hons) PhD Biostatistician Honorary Research Associate Peter.Jacoby@telethonkids.org.au ...

• 1. Telethon Kids Institute
• Projects

The aim of this study was to devise an evidence-based missing data rule for the Quality of Life Inventory-Disability (QI-Disability) questionnaire specifying how many missing items are permissible for domain and total scores to be calculated using simple imputation. ...

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

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

This study aims to establish FASD prevalence among sentenced young people in detention in Western Australia (WA) ...

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

About 2 per cent of children are estimated to have an intellectual disability. The cause of the condition is unknown in at least 50 per cent of cases. ...

• 1. Telethon Kids Institute
• Our research
• Research Topics

In comparison to those young adults attending open employment from 2009 to 2011, those attending day recreation programs were reported to experience... ...

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

This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations ...

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

The measurement of quality of life (QOL) in children with intellectual disability often relies upon proxy report via caregivers. The current study investigated whether caregiver psychological distress mediates or moderates the effects of impairment on their ratings of QOL in children with intellectual disability. ...

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