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We investigated the factors that may affect the age at diagnosis for girls and woman with Rett syndrome.
For this study, we examined how Rett syndrome characteristics can be affected by X-inactivation for 2 of the common types of mutation - p.R168X and p.T158M.
This study measured changes in bone density over time using dual energy x-ray absorptiometry (DEXA). Lean tissue or muscle mass (LTM) was also measured.
We collected information on a monthly basis on the patterns of seizures and medications of 162 girls in the Australian Rett Syndrome study over a calendar year.
Using information from the Australian Rett Syndrome study, we examined the frequency of a range of sleep issues and variation by agegroup or gene abnormalities.
We compared the symptoms and genetic characteristics of girls with Rett syndrome and both with and without initial diagnosis of autism.
We interviewed 21 families with a daughter with Rett Syndrome about aspects of their daughters' lives that were satisfying or challenging to them.
Therefore, we used video data to examine changes in hand function over time. We also investigated what other factors might influence these changes.
We wanted to assess bone mineral content and bone mass density in girls and women in our Australian study, and whether specific factors had any influence.
We described the occurrence of scoliosis in Rett syndrome, how it develops and how it is influenced by the individual's age, mutation type, and walking ability.