High levels of sedentary time and low daily step counts in a Danish population of females with Rett syndrome ...

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

Delayed development of antibodies to S. pneumoniae in infancy is associated with the development of atopy and asthma. ...

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

This paper reviews the disorder Rett syndrome and evidence for the management of scoliosis and poor growth within a clinical ethics framework ...

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

Early presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis ...

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

Pneumococcal surface protein A is immunogenic and natural anti-PspA immune responses are acquired through exposure and develop with age ...

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

Otitis media (OM) is a common childhood disease characterised by middle ear effusion and inflammation. ...

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

This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and... ...

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

Characterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants. ...

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

Individuals with Prader-Willi syndrome (PWS) often have excessive daytime sleepiness and emotional/behavioral disturbances. The objective of this study was to examine whether daytime sleepiness was associated with these emotional/behavioral problems, independent of nighttime sleep-disordered breathing, or the duration of sleep. ...

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

Graham Rachel Hall Foong GL RF BAppSci PhD CRFS FANZSRS FThorSoc FERS BSc (hons), PhD, MBiostat Honorary Research Associate Senior Research Fellow 08 6319 1626 Rachel.Foong@telethonkids.org.au Honorary Research Associate Senior Research Fellow ...

• 1. Telethon Kids Institute
• Projects

André Graham Ingrid Schultz Hall Laing AS GL IL MBChB, PhD, FRACP BAppSci PhD CRFS FANZSRS FThorSoc FERS BSc PhD Program Head, Respiratory Health RFA Honorary Research Associate Head, Children's Respiratory Science 6319 1828 Ingrid.laing@ ...

• 1. Telethon Kids Institute
• Projects

Genome wide linkage studies (GWLS) have provided evidence for loci controlling visceral leishmaniasis on Chromosomes 1p22, 6q27, 22q12 in Sudan... ...

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