Aim: To compare growth in individuals with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder with population norms and to investigate the effect of gastrostomy on growth.  ...

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

Increased risk of autism spectrum disorder with intellectual disability and cerebral palsy with intellectual disability for mothers of some foreign-born groups ...

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

This review made the important observation that registries with biobanks had the function of both stand-alone registries and stand-alone rare disease biobanks ...

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

We investigated the literature from 2002 to 2016 describing the risk of ASD, intellectual disability and ADHD in children of refugee and immigrant backgrounds. ...

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

This study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome ...

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

This paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome. ...

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

This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations. ...

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

Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically. ...

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

Improving the lives of children with a disability and their families sits at the core of our team. ...

• 1. Telethon Kids Institute
• Our research
• Brain and Behaviour
• Development and Disability

Validated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective was to modify the Rett Syndrome Gross Motor Scale (RSGMS) and evaluate its psychometric properties for individuals with CDD. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• January 2024