To investigate developmental trajectories in early childhood and predictors of class assignment. ...

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

The behavioral phenotype of neurogenetic disorders associated with intellectual disability often includes psychiatric comorbidity. The objectives of this systematic review and meta-analysis were to systematically review the prevalence of psychiatric disorders and symptoms in children and adolescents ...

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

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

Wearable motion sensors, specifically, Inertial Measurement Units, are useful tools for the assessment of orientation and movement during sleep. The DOTs platform (Xsens, Enschede, The Netherlands) has shown promise for this purpose. This pilot study aimed to assess its feasibility and validity for recording sleep biomechanics. ...

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

The objective of this study was to evaluate areas of clinical uncertainty among pediatric spine surgeons regarding the treatment of early-onset scoliosis. ...

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

Children with CP and intellectual disability, particularly from minority backgrounds, were at higher risk of being admitted to hospital after the first year of life ...

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

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

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

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