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Rett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several evaluation tools of clinical severity, behavior, and functional motor abilities have been proposed specifically for it.
Through evidence review and the consensus of an expert panel, we developed recommendations for the clinical management of gastroesophageal reflux disease,...
The aim of this study was to describe pubertal development in a population-based cohort of females with 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...
The aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype.
Our investigation used the infrastructure of InterRett, established in 2002 with dual aims of encour- aging international collaboration and ascertaining the...
We argue that population-based studies are critical to overcome the selection bias seen in many clinical samples and to identify true variability within a...
This study assessed the functional skills of three girls with RTT aged 35 years before and during participation in a CE programme.
This study explored relationships between speech and language abilities in girls with Rett syndrome and how they may be affected by the type of genetic mutation
We interviewed 17 parents with a daughter with Rett syndrome to gain their perspectives on how their daughter communicates and barriers.