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.
Using information from the Australian Rett Syndrome study, we examined the frequency of a range of sleep issues and variation by agegroup or gene abn…
We investigated the occurrence of different types of hand stereotypies and whether they were more frequent in one hand or the other.
We developed a measure of hand function, and then investigated relationships between hand function, type of MECP2 mutation, age and severity of sympt…
We interviewed 17 parents with a daughter with Rett syndrome to gain their perspectives on how their daughter communicates and barriers.
We hypothesised that MECP2 mutations occur predominantly on the male derived X chromosome.
One of the many reasons for setting up the International CDKL5 Disorder Database was to learn more about this condition.
This study evaluated sixty-one families' satisfaction following spinal fusion in girls with Rett syndrome.
We wanted to examine the effects of spinal fusion surgery to treat scoliosis on the functional abilities of girls and women with Rett syndrome.