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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 symptoms.
We wanted to compare the frequency of fracture episodes, and factors associated with a fracture, in females with Rett syndrome, compared to general population.
Our study investigated the impacts of spinal fusion on survival and the risk of developing respiratory infections in females with Rett syndrome.
This study evaluated sixty-one families' satisfaction following spinal fusion in girls with Rett syndrome.
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.
We wanted to examine the effects of spinal fusion surgery to treat scoliosis on the functional abilities of girls and women with Rett syndrome.
In order to help doctors and families reduce the risk of fractures, we developed clinical guidelines for managing bone health in Rett syndrome.
Our research covers a broad range of areas from the influence of mutation type on health outcomes to factors impacting on the lives of familes.
One of the many reasons for setting up the International CDKL5 Disorder Database was to learn more about this condition.