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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 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.

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.