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Access to Oral Healthcare in Individuals With Rett Syndrome: A Qualitative Study of Parent Perspectives

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.

qPCR assay optimisation for a clinical study comparing oral health risk in Rett syndrome

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.

Adapting a measure of gross motor skills for individuals with CDKL5 deficiency disorder: A psychometric study

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.

Down syndrome or Rett syndrome in the family: Parental reflections on sibling experience

Siblings of children with intellectual disability have unique family experiences, varying by type of disability.

Genotype and sleep independently predict mental health in Rett syndrome: An observational study

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.

Determinants of quality of life in Rett syndrome: New findings on associations with genotype

Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome.

Decline in gross motor skills in adult Rett syndrome; results from a Danish longitudinal study

Longevity of individuals with neurodevelopmental diseases as Rett syndrome (RTT) has increased and many reach adulthood and old age. There is therefore a need to increase knowledge about the course of RTT in adults in order to improve medical care management and quality of life.

Facilitators and Barriers of Participation in “Uptime” Activities in Girls and Women With Rett Syndrome: Perspectives From Parents and Professionals

This study explored facilitators and barriers to "uptime" (non-sedentary) activities in Danish girls and women with Rett syndrome

Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome

High levels of sedentary time and low daily step counts in a Danish population of females with Rett syndrome

Oral health experiences of individuals with Rett syndrome: A retrospective study

Social advantage may provide some protection for dental health in individuals with Rett syndrome