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

We evaluated family satisfaction following spinal fusion in girls with Rett syndrome ...

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

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

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

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

Developmental Coordination Disorder is a lifelong disability impacting most aspects of daily living that involve movement. With an estimated prevalence of ~5% of children, the disorder affects an average of one to two children in every Australian classroom. ...

• 1. Telethon Kids Institute
• Our research
• Research Topics

Amy Juliet Vincent Keerthi Professor Catherine Finlay-Jones Brook Mancini Kottampally Elliott AFJ JB VOM KK CE BPsych(Hons), MPsych(Clinical), ...

• 1. Telethon Kids Institute
• Projects

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

Helen Jenny Peter Leonard Downs Jacoby HM JA PJ MBChB MPH BApplSci (physio) MSc PhD BA (Hons) MSc Principal Research Fellow Program Head, ...

• 1. Telethon Kids Institute
• Projects