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Twenty-five families of girls who underwent a spinal fusion between 2006-2012 were interviewed to explore the course of their daughter's recovery.
Using information provided by the Rett study, we looked at relationships of early development, genetic characteristics and the development of scoliosis.
We used multiplex ligation-dependent probe amplification to examine the MECP2 gene sequences in 149 girls and 1 boy.
Novel findings in relation to genotype
We reviewed literature and RettNet to explore firsthand perspectives of gastrointestinal issues in Rett Syndrome, then developed recommendations with experts.
We wanted to describe the range and variability in the expression of symptoms in girls and women with Rett syndrome.
We set out to describe the feeding difficulties and nutrition of girls with Rett syndrome and to examine what factors may be influencing their nutrition.
Using a large sample size, we investigated the relationships between epilepsy and genotype, and the impact of medications used on seizure management.
Many girls and women with Rett syndrome experience seizures. We wanted to know if there were any factors that influenced the age when seizures first developed.
The Sibling Project focuses on children, adolescents and emerging adults who have a sibling with a disability, investigating their mental health, relationships and quality of life.