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Research
Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research SocietyResearch focused on Down syndrome has increased in the last several years to advance understanding of the consequences of trisomy 21 (T21) on molecular and cellular processes and, ultimately, on individuals with Down syndrome. The Trisomy 21 Research Society (T21RS) is the premier scientific organization for researchers and clinicians studying Down syndrome.
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Caregivers' Perceptions of Clinical Symptoms, Disease Management, and Quality of Life Impact in Cases of Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Cross-Sectional Online SurveyCyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is an ultrarare genetic condition causing developmental epileptic encephalopathy characterized by seizures and motor and intellectual disabilities. No disease-modifying therapies are available, and treatments focus mainly on symptom management to improve quality of life.
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Parents’ Disclosure of Their Child’s Health and Neurodevelopmental Conditions: A Systematic Review and Qualitative MetasynthesisParents of children with physical/mental health and/or neurodevelopmental conditions often need to make disclosure decisions for their child. Disclosure can bring benefits (e.g., support) but can also risk harm (e.g., stigma). This systematic review aimed to consolidate research regarding parents' disclosure experiences to better understand how to support parents during this process.
News & Events
NHMRC funding awarded to support child health researchThe Kids Research Institute Australia researchers have been awarded more than $10 million in research funding from the National Health and Medical Research Council (NHMRC).
News & Events
Major grants fuel child health researchSix researchers from The Kids Research Institute Australia have been awarded $8.9 million in prestigious Investigator Grants from the National Health and Medical Research Council.
News & Events
Five researchers from The Kids awarded Early Career Child Health Researcher FellowshipsFive researchers from The Kids Research Institute Australia have been awarded three-year fellowships with the aim of keeping more WA-based PhD graduates involved in child health research.
Research
Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content AnalysisNo validated oral health-related quality of life (OHRQOL) instrument currently exists for those with severe intellectual and developmental disabilities and who communicate non-verbally. This qualitative study aimed to explore the domains that were important to the oral health-related quality of life in individuals with Rett syndrome.
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Caregiver-reported meaningful change in functional domains for individuals with developmental and epileptic encephalopathy: A convergent mixed-methods designTo investigate how caregivers of children with developmental and epileptic encephalopathy and severe developmental impairments describe meaningful change for functional domains and why it is important.
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What I Wish I Had Known: Examining Parent Accounts of Managing the Health of Their Child With Intellectual DisabilityAppropriate support for the health of children with an intellectual disability by parents and healthcare professionals is pivotal, given the high risk of chronic conditions. However, there is limited research that has collected important insights from parents on their learnings for supporting their child's evolving healthcare needs.
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Childhood leukaemia in Down's syndrome primed by blood-cell biasAn in-depth investigation of gene regulation and cell populations at sites of fetal blood-cell production provides clues as to why children with Down’s syndrome are predisposed to developing leukaemia.