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Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are needed for future clinical trials to be successful. This study aimed to adapt the Rett Syndrome Hand Function Scale for CDKL5 deficiency disorder and evaluate its feasibility, acceptability, content validity, and reliability.
Children with Down syndrome (DS) are at a significantly higher risk of developing acute myeloid leukemia, also termed myeloid leukemia associated with DS (ML-DS). In contrast to the highly favorable prognosis of primary ML-DS, the limited data that are available for children who relapse or who have refractory ML-DS (r/r ML-DS) suggest a dismal prognosis. There are few clinical trials and no standardized treatment approach for this population.
To evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome.
Involvement in healthcare decisions is associated with better health outcomes for patients. For children and adolescents with intellectual disability, parents and healthcare professionals need to balance listening to a child's wishes with the responsibility of keeping them safe.
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.
The Kids Research Institute Australia researchers have called for a greater focus on creating opportunities for children with disability to participate in the community, after finding a clear link between participation and better quality of life.
For thousands of children around Australia with intellectual and other disabilities, the process of eating can be traumatic, posing challenges that veer from uncomfortable to life threatening.
Valid clinical outcome assessments with the ability to capture meaningful aspects of neurodevelopment for individuals with neurogenetic conditions associated with profound functional impairments are lacking, yet critical for clinical care and clinical trial readiness.
Appropriate 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.
People with intellectual disability experience a greater risk of maltreatment than people without intellectual disability. Maltreatment by family members presents additional risks, including greater possibilities for concealment. This scoping reviewResults were summarized in both narrative and tabular formats summarizes extant knowledge about the familial maltreatment of people with intellectual disability and identifies gaps in the literature.