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Intellectual disability affects more than 1.5% of the population of children in developing countries yet we know little about the daily lives and support...
This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).
People with intellectual disability experience higher rates of physical and mental health problems than those without intellectual disability. Health literacy includes accessing, understanding, appraising and applying health information. Improving health literacy is associated with better health outcomes. The internet is a primary source of health information for many people. This study aimed to evaluate available online health resources for people with intellectual disability and their families to understand information gaps.
People with intellectual disability are at risk of poor physical and mental health. Risks to health are compounded by poor health literacy, that is, reduced capacity to access health services, respond quickly to changes in health status and navigate care pathways. Building health literacy skills is a strength-based way to increase health and optimise the use of healthcare services. The internet is a primary source of health information for many people, including people with intellectual disability and their families.
Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763
Scoliosis is a common orthopaedic complication of Rett syndrome, and surgery is commonly used to reduce asymmetry in cases with severe scoliosis.
The clinical, research and advocacy communities for Rett syndrome are striving to achieve clinical trial readiness, including having fit-for-purpose clinical outcome assessments. This study aimed to (1) describe psychometric properties of clinical outcome assessment for Rett syndrome and (2) identify what is needed to ensure that fit-for-purpose clinical outcome assessments are available for clinical trials.
CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy.
Cyclin-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.
Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. Previous studies have shown challenges to the quality of life of individuals with RTT and their caregivers. However, instruments applied to quantify disease burden have not adequately captured the impact of these impairments on affected individuals and their families. Consequently, an international collaboration of stakeholders aimed at evaluating Burden of Illness in RTT was organized.