The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials. ...

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

This study aimed to provide initial validation of the Dimensional Assessment of Restricted and Repetitive Behaviors (DARB), a new parent-report measure designed to capture the full range of key restricted and repetitive behaviors (RRB) subdomains. ...

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

Clinical presentations and genetic variations in Cyclin-dependent kinase-like 5 deficiency disorder based on a systematic literature review and experience ...

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

We aimed to describe birth prevalence of rare craniofacial anomalies and associations with antenatal and perinatal factors. All live and stillbirths in Western Australia between 1980 and 2010 were identified from the Western Australian Birth Registrations and the Midwives Notification System (also provides information on antenatal and perinatal factors). ...

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

Rett syndrome is a severe neurodevelopmental disorder that typically affects females. Little is known about the natural history and survival time of these femal ...

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

Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic... ...

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

Kandice Varcin KJ M.Psych (Clinical), PhD Honorary Research Associate ​kandice.varcin@telethonkids.org.au Dr Kandice Varcin is a Research Fellow who ...

• 1. Telethon Kids Institute
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• Staff Profiles - V

Findings provide preliminary evidence that early psychosis is associated with reduced heart rate variability ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• August 2018

In this article, we examine the utility of a transdiagnostic, dimensional approach to very early identification and intervention for infants at risk of neurodevelopmental disorders ...

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

Helen Mohammed Leonard Junaid HM MJ MBChB MPH BDS, MDS, MFDS RCPS (Glasg.), DDPH RCS (Eng) Principal Research Fellow Research Officer +61 419 956 ...

• 1. Telethon Kids Institute
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