CDKL5 Deficiency Disorder (CDD) is a severe X-linked developmental and epileptic encephalopathy. Existing developmental outcome measures have floor effects and cannot capture incremental changes in symptoms. We modified the caregiver portion of a CDD clinical severity assessment (CCSA) and assessed content and response-process validity.  ...

• 1. Telethon Kids Institute
• Our research
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• 2023
• September 2023

 Work in progress: updated 24 July 2019  This web page is currently being developed to provide public access to the DPP's research publications. If ' ...

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• Developmental Pathways Project

Supports are needed for families with children with disabilities to assist in meeting the child's health and developmental needs, but also to support the parents in managing the often more complex parenting environment. ...

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• Our research
• Reports and Findings
• 2017
• April 2017

Neuromuscular disorders can lead to nocturnal hypoventilation. Accurate diagnosis of hypoventilation is imperative to guide treatment decisions. This study determined interobserver agreement for a number of definitions of nocturnal hypoventilation in children and adolescents with neuromuscular disorders. ...

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

Helen Jenny Keely Leonard Downs Bebbington HM JA KB MBChB MPH BApplSci (physio) MSc PhD MClinPsych/PhD Principal Research Fellow Program Head, ...

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Introduction Fetal Alcohol Spectrum Disorder (FASD) is a neurodevelopmental disorder caused by prenatal alcohol exposure (PAE). FASD research is a rapidly growing field that crosses multiple disciplines. To ensure research is relevant and meaningful for people living with FASD, their families, and the broader public there is a need to engage community members in setting priorities for research. ...

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• Our research
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• 2020
• December 2020

Explored Youth with Neuromuscular Disorders perceptions of health, health behaviors and healthcare engagement ...

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• Our research
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• 2016
• October 2016

Please direct general enquiries to our reception on (08) 6319 1000. Please direct media enquiries to our media team: Jack Boronovskis Communications ...

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• 2024
• June

Prader-Willi syndrome (PWS) is a rare genetic condition with multi-system involvement ...

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• Our research
• Reports and Findings
• 2019
• September 2019

This study aimed to describe overall survival and adult health in those with Rett syndrome. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• June 2014