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Predictors of seizure onset in Rett syndrome

Many girls and women with Rett syndrome experience seizures. We wanted to know if there were any factors that influenced the age when seizures first…

Assessment and management of nutrition and growth in Rett syndrome

We developed recommendations to assess and manage issues relating to poor growth and weight gain in Rett syndrome, including consideration of gastros…

Experience of gastrostomy using a quality care framework: The example of Rett syndrome

We investigated our data from family questionnaires to see how feeding difficulties related to age, the type of MECP2 mutation, and the use of gastro…

The range of expression of symptoms in girls and women with Rett syndrome

We wanted to describe the range and variability in the expression of symptoms in girls and women with Rett syndrome.

Longitudinal bone mineral content and density in Rett syndrome and their contributing factors

This study measured changes in bone density over time using dual energy x-ray absorptiometry (DEXA). Lean tissue or muscle mass (LTM) was also measur…

Atypical Presentations

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

Investigating genotype - phenotype relationships in Rett syndrome using an international database

This study used information from international Rett syndrome database to investigate the relationship between clinical characteristics and different…

Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome

This study explored relationships between speech and language abilities in girls with Rett syndrome and how they may be affected by the type of genet…

Bone mineral content and density in Rett syndrome

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 influ…

Family satisfaction with spinal fusion

Twenty-five families of girls who underwent a spinal fusion between 2006-2012 were interviewed to explore the course of their daughter's recovery.