Cyclin-dependent kinase-like 5 (CDKL5) gene pathogenic variants result in CDKL5 deficiency disorder (CDD). Early onset intractable epilepsy and severe developmental delays are prominent symptoms of CDD. Comorbid sleep disturbances are a major concerning symptom for families. ...

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

Investigate impacts on maternal health and family quality of life in families with a child with the CDKL5 disorder ...

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

Understanding hospital service use among children with a diagnosis of craniosynostosis is important to improve services and outcomes. This study aimed to describe population-level trends, patterns, and factors influencing hospitalizations for craniosynostosis in Western Australia. ...

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

This study investigated dental hospitalisations in Western Australian (WA) children with intellectual disability (ID) and/or autism spectrum disorder (ASD) aged up to 18 years. ...

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

The annual economic cost of DMD was found to be high, reflecting a significant socioeconomic burden, especially in boys who reach adulthood ...

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

This paper describes dental and oral cavity admissions and associated factors in children under two years of age using total-population databases. ...

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

To describe trends, age, and sex-specific patterns of population hospital admissions with a diagnosis of craniosynostosis (CS) in Australia. Population data for hospital separations (in-patient) from public and private hospitals (July 1996-June 2018) were obtained from the publicly available Australian Institute of Health and Welfare (AIHW) National Hospital Morbidity Database. ...

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

In children with Prader-Willi syndrome (PWS), growth hormone (GH) improves height and body composition; however, may be associated with worsening sleep-disordered breathing (SDB). Some studies have reported less SDB after GH initiation, but follow-up with polysomnography is still advised in most clinical guidelines. ...

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

Quality of life of young people with Down syndrome was most negatively associated with burden of medical conditions, but also with lack of friendships ...

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

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

Clinical presentations and genetic variations in Cyclin-dependent kinase-like 5 deficiency disorder based on a systematic literature review and experience ...

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

We aimed to describe birth prevalence of rare craniofacial anomalies and associations with antenatal and perinatal factors. All live and stillbirths in Western Australia between 1980 and 2010 were identified from the Western Australian Birth Registrations and the Midwives Notification System (also provides information on antenatal and perinatal factors). ...

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