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…
We developed recommendations to assess and manage issues relating to poor growth and weight gain in Rett syndrome, including consideration of gastros…
We investigated our data from family questionnaires to see how feeding difficulties related to age, the type of MECP2 mutation, and the use of gastro…
We wanted to describe the range and variability in the expression of symptoms in girls and women with Rett syndrome.
This study measured changes in bone density over time using dual energy x-ray absorptiometry (DEXA). Lean tissue or muscle mass (LTM) was also measur…
We investigated the factors that may affect the age at diagnosis for girls and woman with Rett syndrome.
This study used information from international Rett syndrome database to investigate the relationship between clinical characteristics and different…
This study explored relationships between speech and language abilities in girls with Rett syndrome and how they may be affected by the type of genet…
MECP2 duplication syndrome is a rare disorder neurodevelopmental disorder that, unlike Rett syndrome, mostly affects boys.