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The diagnostic odyssey to Rett syndrome: The experience of an Australian familyThe diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation is variable.
Research
What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study...
Therefore, we wanted to compare the features of girls and women with a C-terminal deletion with those with other MECP2 mutations.
We investigated the occurrence of altered pain sensitivity as well as how these altered reactions to pain were observed during daily life.
We compared information on the life expectancy of Dr Rett's original group in 1966 with information in the Australian Rett Syndrome Database.
We investigated the occurrence of different types of hand stereotypies and whether they were more frequent in one hand or the other.
In order to help doctors and families reduce the risk of fractures, we developed clinical guidelines for managing bone health in Rett syndrome.
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Sleep problems in Rett syndromeSleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history.
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Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male probandComprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...
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Parental experiences of scoliosis management in Rett syndromeScoliosis is the most common orthopaedic complication of Rett syndrome. Parents of affected individuals are vital partners in the clinical management...