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

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

This study aims to establish the current knowledge, attitudes, experiences and practices regarding FASD and other neurodevelopmental impairments among youth custodial officers ...

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

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

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

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

Pneumococcal surface protein A is immunogenic and natural anti-PspA immune responses are acquired through exposure and develop with age ...

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

Delayed development of antibodies to S. pneumoniae in infancy is associated with the development of atopy and asthma. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• July 2015

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

Otitis media (OM) is a common childhood disease characterised by middle ear effusion and inflammation. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• February 2014