The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials ...

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

Rett syndrome is a severe neurodevelopmental disorder mainly affecting females and scoliosis is a common co-morbidity. Spinal fusion may be recommended if... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• February 2015

Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 ...

• 1. Telethon Kids Institute
• Projects

Jenefer Jonathan Blackwell Carapetis AM JM JR BSc with First Class Honours, PhD, DSc, FMedSci, FAA AM MBBS FRACP FAFPHM PhD FAHMS Head, Genetics & ...

• 1. Telethon Kids Institute
• Projects

Otitis media (OM) is among the most common illnesses of early childhood, characterised by the presence of inflammation in the middle ear cavity... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• February 2011

Investigating the physical impact of Long COVID on ORIGINS families ...

• The ORIGINS Project
• For participants

The recent increase in babies born with brain and eye malformations in Brazil is associated with Zika virus (ZIKV) infection in utero. ZIKV alters host DNA methylation in vitro. Using genome-wide DNA methylation profiling we compared 18 babies born with congenital ZIKV microcephaly with 20 controls. We found ZIKV-associated alteration of host methylation patterns, notably at RABGAP1L which is important in brain development, at viral host immunity genes MX1 and ISG15, and in an epigenetic module containing the causal microcephaly gene MCPH1. Our data support the hypothesis that clinical signs of congenital ZIKV are associated with changes in DNA methylation. ...

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

To describe health-related quality of life of Australian children and adolescents with Down syndrome and compare it with norm-referenced data. ...

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

Providing new insights into the interpretation of genetic variants in a rare neurologi disorder, in the contexts of population sequencing data. ...

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

Our results show perturbation of host mitochondrial function following T. gondii infection that likely impacts on pathogenesis of disease. ...

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