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Therefore, we wanted to compare the features of girls and women with a C-terminal deletion with those with other MECP2 mutations.
Our study investigated the quality of measurements obtained using the Rett Syndrome Gross Motor Scale.
We compared parent/carer-reported physical activities with the number of steps counted by an accelerometer in girls and women with Rett syndrome.
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.
We investigated the occurrence of altered pain sensitivity as well as how these altered reactions to pain were observed during daily life.
We wanted to find out whether mothers with a child with Rett syndrome who were more physically and mentally healthy had particular characteristics.
About 2 per cent of children are estimated to have an intellectual disability. The cause of the condition is unknown in at least 50 per cent of cases.
Principal Research Fellow
We want to hear from siblings living outside of Australian cities!