To determine the feasibility of an intensive interdisciplinary programme in improving goal and motor outcomes for preschool-aged children with non-progressive neurodisabilities. The primary hypothesis was that the intervention would be feasible. ...

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

Cerebral palsy (CP) is the most common physical disability of childhood worldwide. Historically the diagnosis was made between 12 and 24 months, meaning data about effective early interventions to improve motor outcomes are scant. In high-income countries, two in three children will walk. This evaluator-blinded randomised controlled trial will investigate the efficacy of an early and sustained Goals-Activity-Motor Enrichment approach to improve motor and cognitive skills in infants with suspected or confirmed CP. ...

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

To evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome. ...

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

Rett syndrome is associated with severe functional impairments and many comorbidities, each in urgent need of treatments. Mutations in the MECP2 gene were identified as causing Rett syndrome in 1999. Over the past 20 years there has been an abundance of preclinical research with some studies leading to human clinical trials. ...

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

Limited research exists on the pathways through which physical activity influences cognitive development in the early years. This study examined the direct and indirect relationships between physical activity, self-regulation, and cognitive school readiness in preschool children. ...

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

Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome. ...

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

This cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• November 2017

Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• April 2017

Aim: To report prospective longitudinal data of early vocaliszations of infants identified “at-risk” of cerebral palsy (CP) for early identification of communication impairment.  This case-control longitudinal prospective cohort study reports on the assessment of 36 infants. ...

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

Intellectual disability affects more than 1.5% of the population of children in developing countries yet we know little about the daily lives and support... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• February 2013

Our findings provide additional insight into the early clinical profile of Rett syndrome. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• January 2013

This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT). ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2007
• October 2007