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

CDKL5 deficiency disorder (CDD) results in early-onset epilepsy and lifelong cognitive and motor impairments. With no validated measure for communication in CDD, this study evaluated the psychometric properties of the Communication and Symbolic Behavior Scales-Developmental Profile Infant Toddler Checklist. ...

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

Clinicians who counsel prospective ART patients about birth defect risk should provide information about the overall risk of having a child with a birth defect ...

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

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

Poverty invades every aspect of a child’s life and, as a growing body of research tells us, affects physical and mental wellbeing as well as future opportunitie ...

• 1. Telethon Kids Institute
• News & Events
• News & Events at Telethon Kids
• 2018
• February

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

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

Whilst gastrostomy insertion was associated with lower survival rates than children without gastrostomy, survival improved with time ...

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

Gastrostomy was associated with health benefits including reduced all-cause and epilepsy hospitalizations, but was not protective against acute LRTI ...

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

The purpose of this study is to describe the social participation of young adults with Down syndrome and examine its relationship with the physical and... ...

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