Developmental Coordination Disorder is a lifelong disability impacting most aspects of daily living that involve movement. With an estimated prevalence of ~5% of children, the disorder affects an average of one to two children in every Australian classroom. ...

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CDKL5 deficiency disorder presents as a challenging condition with early-onset refractory seizures, severe developmental delays, and a range of other neurological symptoms. Our study aimed to explore the benefits and side effects of anti-seizure medications in managing seizures among individuals with CDKL5 deficiency disorder, drawing on data from the International CDKL5 Disorder Database.   ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• July 2024

Alix Helen Keely Rigel Nicole Woolard Milroy Bebbington Paciente Wickens AW HM KB RP NW BPsych (Hons), PhD MBBS; FRANZCP; CATCAP MClinPsych/PhD MPH ( ...

• Telethon Kids Institute
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Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 ...

• Telethon Kids Institute
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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 ...

• Telethon Kids Institute
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• Reports and Findings
• 2020
• April 2020

Wellbeing and mental health are fundamental rights of children and adolescents essential for sustainable development. Understanding the epidemiology of child and adolescent wellbeing is essential to informing population health approaches to improving wellbeing and preventing mental illness. ...

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

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. ...

• 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. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• December 2017

To describe health-related quality of life of Australian children and adolescents with Down syndrome and compare it with norm-referenced data. ...

• Telethon Kids Institute
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• 2018
• April 2018

There were differences in the presentation of clinical features occurring in the CDKL5 disorder and in Rett syndrome. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• May 2016