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). ...

• 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 ...

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

This study aimed to identify the quality of life domains important for individuals with CDKL5 deficiency disorder ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• February 2019

We investigated the relationship between autistic-like traits in early childhood and age at menarche in typically developing girls. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• August 2011

The current investigation measured AT in 360 males and 400 males from the general population close to two decades apart, using the Pervasive Developmental... ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• August 2011

A problem that applied researchers and practitioners often face is the fact that different institutions within research consortia use different scales to evaluate the same construct which makes comparison of the results and pooling challenging. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• July 2024

Sensory modulation symptoms form a diagnostic criterion for autism spectrum disorder and are associated with significant daily functional limitations. Utilizing caregiver report on Short Sensory Profile-2 (SSP-2) for 919 autistic children (3–14.11 years), we examined the expression of sensory modulation symptoms by age and sex and investigated the existence of specific sensory modulation subtypes. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• June 2022

To investigate the genetic architecture of internalizing symptoms in childhood and adolescence. ...

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

Evidence that some children also develop autistic symptomatology over time has raised suggestions that developmental language disorder... ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2009
• July 2009

In this study we devised a child-friendly version of a paradigm to assess lateralisation of visuospatial memory using functional transcranial Doppler... ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• October 2011

The past three decades have seen a major shift in our understanding of the strong links between autism and identity. These developments have called for careful consideration of the language used to describe autism. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• November 2022

Substantial genetic correlations have been reported across psychiatric disorders and numerous cross-disorder genetic variants have been detected. To identify the genetic variants underlying general psychopathology in childhood, we performed a genome-wide association study using a total psychiatric problem score. ...

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