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The trajectories of sleep disturbances in Rett syndromeThis paper demonstrated that the evolution of sleep problems differed between subgroups of girls and women with Rett syndrome, in part explained by age and...
Research
Pubertal trajectory in females with Rett syndrome: A population-based studyThe aim of this study was to describe pubertal development in a population-based cohort of females with Rett syndrome.
Research
Measuring use and cost of health sector and related care in a population of girls and young women with Rett syndromeThis study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic factors
Research
Predictors of scoliosis in Rett syndromeScoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls.
We investigated the factors that may affect the age at diagnosis for girls and woman with Rett syndrome.
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
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 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.