Attention to sleep hygiene remains an important management strategy for sleep problems in Rett syndrome ...

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

We investigated the effects of environmental enrichment on gross motor skills and blood BDNF levels in girls with Rett syndrome. ...

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

Investigate impacts on maternal health and family quality of life in families with a child with the CDKL5 disorder ...

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

A number of themes emerged from the qualitative data which included parents' views and concerns about the capacity of their young adult to adapt and change to life in adulthood ...

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

We compared neonatal T reg from children born in western conditions (Australia) with those of neonates born in high microbial conditions (Papua New Guinea)... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• March 2012

Fourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• January 2012

Emma Helen Glasson Leonard EJ HM BPsych BSc (Hons) PhD MBChB MPH Senior Research Fellow Principal Research Fellow +61 419 956 946 emma.glasson@telethonkids.org.au helen.leonard@telethonkids.org.au Senior Research Fellow Principal Research Fellow @ ...

• 1. Telethon Kids Institute
• Projects

This study suggests that broad-spectrum protection-of-pregnancy against infection-associated inflammatory stress represents an achievable therapeutic goal ...

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

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

Following the outbreak of COVID-19, social distancing restrictions limited access to face-to-face mental health services in Western Australia (WA), necessitating a rapid transition to non-face-to-face alternatives, including telehealth. The current study investigated barriers and facilitators to telehealth access and engagement, and preferences for child and youth mental health service delivery during and beyond COVID-19. ...

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

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

Rett syndrome is associated with increased vulnerability to lower respiratory tract infection requiring hospitalization ...

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