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Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome

This study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis.

Implementing Telehealth support to increase physical activity in girls and women with Rett syndrome

Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763

Measuring use and cost of health sector and related care in a population of girls and young women with Rett syndrome

This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic...

Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome

There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors.

Level of purposeful hand function as a marker of clinical severity in Rett syndrome

We investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome

Updating the profile of C-terminal MECP2 deletions in Rett syndrome

This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations

Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence

To develop guidelines for the clinical management of scoliosis in Rett syndrome through evidence review and consensus expert panel opinion.

Parental experiences of scoliosis management in Rett syndrome

Scoliosis is the most common orthopaedic complication of Rett syndrome. Parents of affected individuals are vital partners in the clinical management...

Sleep problems in Rett syndrome

Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history.

The association between behaviour and genotype in Rett Syndrome using the Australian Rett Syndrome Database

This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...