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Research

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

People

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.

Research

This study used qualitative methods to investigate the regaining of mobility in 12 months following fractures in Rett syndrome and parent caregiver experiences.

Research

Bone mass and density are low in females with Rett syndrome.