Identified no significant differences between the high- and low-risk fetuses in the rate of prenatal head and body growth throughout the 2nd and 3rd-trimester ...

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

Characterised by varying degrees of difficulties in communication skills and social abilities, one in every 100 individuals will have a diagnosis of an autism spectrum condition. While autism is known to run in families, the exact causes remain unknown. ...

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

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

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

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

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

Helen Peter Leonard Jacoby HM PJ MBChB MPH BA (Hons) MSc Principal Research Fellow Biostatistician +61 419 956 946 helen.leonard@telethonkids.org.au Peter.Jacoby@telethonkids.org.au Principal Research Fellow Biostatistician Authors: Downs J, ...

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

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

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

This paper examined the link between low serum Vitamin D levels and development of non-alcoholic fatty liver disease (NAFLD) in adolescents between 14 and 17... ...

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

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

In Australia the 7-valent pneumococcal conjugate vaccine (PCV7) is administered at 2, 4 and 6 months of age, with no booster dose. ...

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