Amy Finlay-Jones AFJ BPsych(Hons), MPsych(Clinical), MHealthEcon, PhD (Clin Psych) Head, Early Neurodevelopment & Mental Health; Healthway WA Senior Research Fellow +61 8 6319 1808 amy.finlay-jones@telethonkids.org.au Head, Early Neurodevelopment & ...

• 1. Telethon Kids Institute
• Projects

Indigenous Australians harbour rich and unique genomic diversity. However, Aboriginal and Torres Strait Islander ancestries are historically under-represented in genomics research and almost completely missing from reference datasets. Addressing this representation gap is critical, both to advance our understanding of global human genomic diversity and as a prerequisite for ensuring equitable outcomes in genomic medicine. ...

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

To evaluate the suitability of the Global Lung Function Initiative (GLI)-2012 other/mixed and GLI-2022 global reference equations for evaluating the respiratory capacity of First Nations Australians.  ...

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

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

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 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

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

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

Ankle and hip power generation as a propulsion strategy during the late stance/early swing phases of walking and running in typically developing children ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• December 2016

To investigate quality of life (QOL) and psychosocial well-being in youth with neuromuscular disorders (NMDs) who are wheelchair users. ...

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

This study assessed the contribution of physical factors including lumbar posture to scoliosis in non-ambulatory youth with DMD in Nepal. ...

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

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