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

Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2007
• November 2007

This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome... ...

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

For mothers with intellectual disability, modifiable risk factors for adverse outcomes need addressing ...

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

Food allergies have become more common in our community, with up to one in ten young children now affected. Reactions can range from mild rashes to life threatening anaphylaxis and breathing difficulties. The most common food allergies are to egg, peanut, tree nuts, cow’s milk, fish, shellfish, wheat and soy. ...

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

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

CDKL5 Deficiency Disorder (CDD) is a severe X-linked developmental and epileptic encephalopathy. Existing developmental outcome measures have floor effects and cannot capture incremental changes in symptoms. We modified the caregiver portion of a CDD clinical severity assessment (CCSA) and assessed content and response-process validity.  ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• September 2023

With COVID-19 restrictions starting to lift and families resuming some level of ‘normal life’, it is natural to have mixed feeling during this time, says Telethon Kids mental health researcher. ...

• 1. Telethon Kids Institute
• News & Events
• News & Events at Telethon Kids
• 2020
• May

Mild traumatic brain injury (mTBI) is a complex injury with heterogeneous physical, cognitive, emotional and functional outcomes. Many who sustain mTBI recover within 2 weeks of injury; however, approximately 10%-20% of individuals experience mTBI symptoms beyond this 'typical' recovery timeframe, known as persistent post-concussion symptoms (PPCS). Despite increasing interest in PPCS, uncertainty remains regarding its prevalence in community-based populations and the extent to which poor recovery may be identified using early predictive markers. ...

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

Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 ...

• 1. Telethon Kids Institute
• Projects