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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,...

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

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

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...

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

To investigate how well intellectual disability (ID) can be ascertained using hospital morbidity data compared with a population-based data source.

Mental health conditions and problems are often reported in children and adolescents with CP. A systematic review was undertaken to describe their prevalence.