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Research

Using a large international sample to investigate epilepsy in Rett syndrome

The aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype.

Research

Assessment and management of nutrition and growth in rett syndrome

We developed recommendations for the clinical management of poor growth and weight gain in Rett syndrome through evidence review and the consensus of an...

Research

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

There were differences in the presentation of clinical features occurring in the CDKL5 disorder and in Rett syndrome.

Parental origin of mutations

We hypothesised that MECP2 mutations occur predominantly on the male derived X chromosome.

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.

The diagnosis of autism in a female: could it be Rett syndrome?

We compared the symptoms and genetic characteristics of girls with Rett syndrome and both with and without initial diagnosis of autism.

The Natural History of Scoliosis in Females with Rett Syndrome

We described the occurrence of scoliosis in Rett syndrome, how it develops and how it is influenced by the individual's age, mutation type, and walking ability.

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.

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 developed.