CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to be a developmental and epileptic encephalopathy because of the early onset of seizures in association with severe global delay. Other features include cortical visual impairment, sleep and gastro-intestinal problems. Progress in clinical understanding, especially regarding the spectrum of functional ability, seizure patterns, and other comorbidities was initially slow but accelerated in 2012 with the establishment of the International CDKL5 Database (ICDD). Our aim was to use this data source to investigate quality of life (QOL) and associated factors in this disorder. ...

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

Despite the rates of low Apgar scores being higher in public patients, the rates of special care admission were lower. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• May 2013

increased adherence to penicillin prophylaxis is associated with reduced acute rheumatic fever recurrence and a likely reduction in mortality ...

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

How females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication ...

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

Participation for girls and women with Rett syndrome could be enhanced by stronger local community supports. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• July 2013

Presence of bacterial otopathogen in the middle ear during ventilation tube insertion was a predictor of children at-risk of repeat ventilation tube insertion ...

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

There remains uncertainty about the effect of exercise on oxidative stress in people with Down syndrome ...

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

Impaired interferon response and allergic sensitization may contribute to virus-induced wheeze and asthma development in young children. Plasmacytoid dendritic cells play a key role in antiviral immunity as critical producers of type I interferons.  ...

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

CDKL5 deficiency disorder (CDD), a severe developmental and epileptic encephalopathy, is being diagnosed earlier with improved access to genetic testing, but this may also have unanticipated impacts on parents’ experience receiving the diagnosis. This study explores the lived experience of parents receiving a diagnosis of CDD for their child using mixed methods. ...

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

Benefits in teaching the Alert Program® to students in a region with high reported rates of foetal alcohol spectrum disorder and self-regulation impairment ...

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

Recently, "Technical standards for respiratory oscillometry" was published, which reviewed the physiological basis of oscillometric measures and detailed the technical factors related to equipment and test performance, quality assurance and reporting of results. Here we present a review of the clinical significance and applications of oscillometry. ...

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

Perspectives of parents are integral to the assessment of communication abilities and inform communication interventions for girls and women with Rett Syndrome ...

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