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This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and...
A clinically significant history of fracture in combination with low bone densitometry findings is necessary for a diagnosis of osteoporosis in Rett Syndrome
This study explored facilitators and barriers to "uptime" (non-sedentary) activities in Danish 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
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.
Siblings of children with intellectual disability have unique family experiences, varying by type of disability.
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.
We aim to ensure that high quality outcome measures are available to evaluate treatments and services for children with disability rigorously. We aim to translate our research into resources to support families, carers and clinicians.
The Sibling Project focuses on the wellbeing, relationships and needs of children, adolescents and emerging adults who have a sibling with a developmental disability.
Principal Research Fellow