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

Individuals with Prader-Willi syndrome (PWS) often have excessive daytime sleepiness and emotional/behavioral disturbances. The objective of this study was to examine whether daytime sleepiness was associated with these emotional/behavioral problems, independent of nighttime sleep-disordered breathing, or the duration of sleep. ...

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

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

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

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

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

Rebecca Fiona Melissa Helen Steve Desiree Glauert Stanley O'Donnell Leonard Zubrick Silva RA FJ M HM SR DS BPsych (Hons) PhD FAA FASSA MSc MD FFPHM ...

• 1. Telethon Kids Institute
• Projects

About 2 per cent of children are estimated to have an intellectual disability. The cause of the condition is unknown in at least 50 per cent of cases. ...

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

While early exposure to alcohol may influence the development of facial structures, it does not appear to be associated with ASD phenotypic variability ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• March 2020