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This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate...
Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,...
Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...
Information on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a...
Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history.
This study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome.
This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).
Early presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis
To investigate the prevalence, trends, and characteristics of maltreatment and assault related hospital admissions and deaths among children
CDKL5 deficiency disorder (CDD), a severe developmental and epileptic encephalopathy, is being diagnosed earlier with improved access to genetic testing, but this may also have unanticipated impacts on parents’ experience receiving the diagnosis. This study explores the lived experience of parents receiving a diagnosis of CDD for their child using mixed methods.