Search our CDKL5 database Our Publications Wong K, Junaid M, Demarest S, Saldaris J, Benke TA, Marsh ED, Downs J and Leonard H. Factors influencing ...

• Rett syndrome and Related Disorders
• About

Wong K, Junaid M, Demarest S, Saldaris J, Benke TA, Marsh ED, Downs J and Leonard H. Factors influencing the attainment of major motor milestones in ...

• Rett syndrome and Related Disorders
• About
• The CDKL5 Disorder

Participate in CDKL5 Research How Can You Participate? Search our CDKL5 database If you are interested in participating in the database, you can ...

• Rett syndrome and Related Disorders
• Participate in Research

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

• Telethon Kids Institute
• Projects

A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• August 2019

Did you know? CDKL5 Development Disorder (CDD) is caused by mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene, which provides instructions ...

• Telethon Kids Institute
• Our research
• Research Impact
• 2022
• In the pipeline

Aim: To compare growth in individuals with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder with population norms and to investigate the effect of gastrostomy on growth.  ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• October 2023

CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy. ...

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

Although abilities were markedly impaired for the majority with the CDKL5 disorder, some females and a few males had better functional abilities ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• November 2016

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. ...

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