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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.
The transport of sick newborn infants with respiratory distress leads to unwanted stress at time of physiological instability. There is dearth of studies to evaluate these stress levels. This pilot prospective observational before-after study aimed to evaluate the plasma cortisol levels (as surrogate marker of stress) in infants with respiratory distress during different phases of neonatal transport.
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.
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.
MECP2 duplication syndrome is a rare but important diagnosis in children because of the burden of respiratory illness and recurrence risk
The IDEA system is a valuable resource to address the needs of people living with intellectual disability
The present estimates of relative recurrence risks for autism spectrum disorder and childhood autism will assist clinicians and families in understanding autism risk
Clinical presentations and genetic variations in Cyclin-dependent kinase-like 5 deficiency disorder based on a systematic literature review and experience
In the first multinational study of birth seasonality of autism spectrum disorder, there was evidence supporting the presence of seasonal trends in Finland and Sweden
A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials.