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New guidelines a model for better management of rare conditions

Research

This 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

Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls.

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Senior Research Fellow

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.

Using information provided by the Rett study, we looked at relationships of early development, genetic characteristics and the development of scoliosis.