People with intellectual disability fall at a younger age compared with the broader community ...

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

Synthesized findings demonstrate that people with intellectual disability, who live in community or residential settings, may fall more frequently, and at a younger age ...

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

Children with asthma face serious mental health risk, but the pathways remain unclear. This study aimed to examine bullying victimisation and perpetration in children with asthma and a comparison sample without a chronic health condition, and the role of bullying in moderating psychosocial adjustment outcomes for those with asthma. A sample of children with and without asthma, and their parents, were recruited from hospital clinics. ...

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

Fiona Stanley FJ FAA FASSA MSc MD FFPHM FAFPHM FRACP FRANZCOG HonDSc HonDUniv HonFRACGP HonMD HonFRCPCH HonLLB (honoris causa) Patron 08 6319 1176 contact@telethonkids.org.au Patron Named Australian of the Year in 2003, Professor Fiona Stanley is a ...

• 1. Telethon Kids Institute
• Our research
• Early Environment
• Developmental Origins of Child Health
• Expired projects

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

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

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

To report on knowledge translation strategies and outcomes from the implementation of the early detection guidelines for cerebral palsy (CP) in a state-wide tertiary early intervention (EI) service and investigate the impact of social determinants on clinical services. ...

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

People with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome. ...

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