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A severe neurodevelopmental disorder mostly affecting girls.
Aim: To describe the real-world effects of trofinetide in individuals with Rett syndrome (RTT) using the 18-month follow-up analysis of the LOTUS study.
The Rett Syndrome Behaviour Questionnaire (RSBQ) describes behavioural and emotional features. This study investigated total RSBQ score trajectories and their clustering, and for trajectory groups, relationships with genotype and mobility, weight-for-age z scores, and seizure frequency.
In children with Rett syndrome, this study aimed to (1) describe gross motor skill trajectories; and (2) analyse the influences of genetic variant and comorbidities. This was a prospective longitudinal study conducted at the Danish National Center for Rett Syndrome 2008 to 2022. The Rett Syndrome Gross Motor Scale (RSGMS) was administered, and clinical data collected at each visit.
Intellectual and developmental disabilities (IDD) are varied in their nature and presentation. Barriers to oral healthcare are reported in studies of general populations with IDD but these may not reflect the barriers experienced by individuals with rare disorders such as Rett syndrome.
No 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.
On Monday 1 September, childhood cancer researcher Jacob Byrne is lacing up his running shoes and taking the first steps of an extraordinary challenge: 30 marathons in 30 days across Perth.
This study aimed to validate qPCR assays for specific microbiota, for use on dental plaque samples stored on Whatman FTA cards to compare relative oral health risk in Rett syndrome.
Validated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective was to modify the Rett Syndrome Gross Motor Scale (RSGMS) and evaluate its psychometric properties for individuals with CDD.
Rett syndrome is a genetically caused neurodevelopmental disorder associated with severe impairments and complex comorbidities. This study examined predictors of anxiety and depression in Rett syndrome, including genotype.
A review led by the First Nations Childhood Cancer team at The Kids Research Institute Australia has highlighted the urgent need for Indigenous-specific studies focused on cancer outcomes, survivorship and equity.
The Kids Research Institute Australia's Brain Tumour Research team will develop and implement cutting-edge technologies to revolutionise the speed of brain cancer diagnosis for WA children, thanks to more than $200,000 from Telethon.
A groundbreaking study from cancer researchers at The Kids Research Institute Australia has identified a promising new therapeutic strategy for children battling the most common childhood cancer – B-cell acute lymphoblastic leukaemia.
The WA Kids Cancer Centre has secured $1.1 million in funding from the Medical Research Future Fund’s (MRFF) Paediatric Brain Cancer Research Stream 2 to develop more effective and less toxic treatments for rare brain cancers in infants.
Associate Professor Rishi Kotecha, Co-Head of Leukaemia Translational Research at The Kids Research Institute Australia Cancer Centre and Consultant Paediatric Oncologist at Perth Children's Hospital, has been named Cancer Council WA’s 2024 Cancer Researcher of the Year.
The Australian arm of an international clinical trial looking at improved treatments for young babies with leukaemia has been awarded funding from the MRFF.
Four The Kids Research Institute Australia researchers are among those who have received funding in the WA State Government's Merit Award Program announced today.