While early exposure to alcohol may influence the development of facial structures, it does not appear to be associated with ASD phenotypic variability ...

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

Jonathan Glenn Katharine Rosemary Tom Carapetis AM Pearson Noonan Wyber Snelling JR G KN R T AM MBBS FRACP FAFPHM PhD FAHMS BA (Education) PhD ...

• 1. Telethon Kids Institute
• Projects

Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase). ...

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

Satisfactory content validity is reported, where ongoing consumer feedback shaped the dataset from which the final items were selected ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• October 2019

Prader-Willi syndrome (PWS) is a rare genetic condition with multi-system involvement ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• September 2019

An increased prevalence of autism spectrum disorder (ASD) among children of immigrant backgrounds has been observed ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• September 2019

Our findings suggest that some opportunities do exist for clinicians to help optimise parental well-being ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• April 2019

The aim of this study was to explore the relationship between emotional health and wellbeing and support needs of perinatal women during the COVID-19 pandemic, and to understand their experiences and need for support. This is a potentially vulnerable group and a critical developmental phase for women and infants. ...

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

This review provides the first comprehensive overview of the potential role for cannabis based preparations in the treatment of CDKL5 Deficiency Disorder ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• March 2019

In girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitor™ and investigated relationships between daily step counts,... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• January 2012