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This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome.
Rett syndrome is a severe neurodevelopmental disorder mainly affecting females and scoliosis is a common co-morbidity. Spinal fusion may be recommended if...
Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome.
Prevalence and determinants of sleep problems in Rett syndrome
The aim of this study was to investigate the validity of using a Bouchard activity record (BAR) in individuals with Rett syndrome to measure physical...
The transition from school to adulthood for young adults with an intellectual disability involves movement from a generally secure and supported school...
Participation for girls and women with Rett syndrome could be enhanced by stronger local community supports.
Hand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome.
Intellectual disability affects more than 1.5% of the population of children in developing countries yet we know little about the daily lives and support...
Rett syndrome is associated with severe functional impairments and many comorbidities, each in urgent need of treatments. Mutations in the MECP2 gene were identified as causing Rett syndrome in 1999. Over the past 20 years there has been an abundance of preclinical research with some studies leading to human clinical trials.