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In children with Rett syndrome, this study aimed to (1) describe gross motor skill trajectories; and (2) analyse the influences of genetic variant and comorbidities. This was a prospective longitudinal study conducted at the Danish National Center for Rett Syndrome 2008 to 2022. The Rett Syndrome Gross Motor Scale (RSGMS) was administered, and clinical data collected at each visit.

Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,...

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...

This study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents.

The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether...

The goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epilepsy,...

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

This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).

Information on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a...

Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...