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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.
We developed a measure of hand function, and then investigated relationships between hand function, type of MECP2 mutation, age and severity of symptoms.
We investigated what parents thought about the ways to manage scoliosis and what they thought they needed to help them better manage their daughter's scoliosis.
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Global research for rare disorderThe Kids Research Institute Australia researchers set out on a worldwide search to find out all they could about Rett syndrome, establishing databases and creating awareness.
Research
A validation study of a modified Bouchard activity record that extends the concept of 'uptime' to Rett syndromeThe aim of this study was to investigate the validity of using a Bouchard activity record (BAR) in individuals with Rett syndrome to measure physical...
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.
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
Clinical guidelines for management of bone health in rett syndrome based on expert consensus and available evidenceA clinically significant history of fracture in combination with low bone densitometry findings is necessary for a diagnosis of osteoporosis in Rett Syndrome
Research
Parental perspectives on the communication abilities of their daughters with Rett syndromeHow females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication