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We investigated the factors that may affect the age at diagnosis for girls and woman with Rett syndrome.

People

PhD Candidate

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.

  Ruby Age 16. Youth advocate, project community member.            Research is important, it provides evidence for care and treatment. Without

  Maddie Age 20. Trial participant, project community member, volunteer.            Without input from the community, we can't see how our research

  Scott Dad of two, Riley and Georgia. Project community member.            Any contribution I can make through community involvement at the