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

Providing new insights into the interpretation of genetic variants in a rare neurologi disorder, in the contexts of population sequencing data. ...

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

It’s only 18 years since the CDKL5 Deficiency Disorder was identified by Australian researchers as an independent disorder, and while some advances ...

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

CDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials.  ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• February 2024

Epilepsy is pervasive but not mandatory for the CDKL5 disorder, and genotype and functional abilities were related to seizure frequency ...

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

CDKL5 deficiency disorder (CDD) results in early-onset seizures and severe developmental impairments. A CDD clinical severity assessment (CCSA) was previously developed with clinician and parent-report items to capture information on a range of domains. ...

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

Our study suggests that vagus nerve stimulation is a generally safe and effective adjunct treatment for CDKL5-associated epilepsy ...

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

CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder with symptoms of epilepsy, developmental impairments, and other comorbidities. Currently, there are no outcome measures for CDD with comprehensive evidence of validation. This study aimed to evaluate the psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) in CDD. Quality of Life Inventory-Disability was administered to 152 parent caregivers registered with the International CDKL5 Disorder Database (ICDD). ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• January 2023

This review provides the first comprehensive overview of the potential role for cannabis based preparations in the treatment of CDKL5 Deficiency Disorder ...

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

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