Search
News & Events
Critical mass in rare diseases - an innovative internet approachThe internet is emerging as a valuable tool for scientists to gather data for critical research into rare diseases.
Guide our sibling research!
Research
Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content AnalysisNo 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.
Research
Genotype and sleep independently predict mental health in Rett syndrome: An observational studyRett 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.
Research
qPCR assay optimisation for a clinical study comparing oral health risk in Rett syndromeThis 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.
Research
Decline in gross motor skills in adult Rett syndrome; results from a Danish longitudinal studyLongevity 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.
Research
Community participation for girls and women living with Rett syndromeParticipation for girls and women with Rett syndrome could be enhanced by stronger local community supports.
We developed recommendations to assess and manage issues relating to poor growth and weight gain in Rett syndrome, including consideration of gastrostomy.
We investigated our data from family questionnaires to see how feeding difficulties related to age, the type of MECP2 mutation, and the use of gastrostomy.