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Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence

In order to help doctors and families reduce the risk of fractures, we developed clinical guidelines for managing bone health in Rett syndrome.

Early determinants of fractures in Rett syndrome

We wanted to compare the frequency of fracture episodes, and factors associated with a fracture, in females with Rett syndrome, compared to general population.

Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: a cohort study

Our study investigated the impacts of spinal fusion on survival and the risk of developing respiratory infections in females with Rett syndrome.

Family satisfaction following spinal fusion in Rett syndrome: a cohort study

This study evaluated sixty-one families' satisfaction following spinal fusion in girls with Rett syndrome.

Parental experiences of scoliosis management

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.

Impact of scoliosis surgery on daily living

We wanted to examine the effects of spinal fusion surgery to treat scoliosis on the functional abilities of girls and women with Rett syndrome.

Level of purposeful hand function as a marker of clinical severity in Rett syndrome

We investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome

Valproate and risk of fracture in Rett syndrome

This study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome.

Updating the profile of C-terminal MECP2 deletions in Rett syndrome

This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations

Hip displacement and scoliosis in Rett syndrome - screening is required

The prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management