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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.
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.
Longevity of individuals with neurodevelopmental diseases as Rett syndrome (RTT) has increased and many reach adulthood and old age. There is therefore a need to increase knowledge about the course of RTT in adults in order to improve medical care management and quality of life.
Early presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis
Prevalence and determinants of sleep problems in Rett syndrome
This paper reviews the disorder Rett syndrome and evidence for the management of scoliosis and poor growth within a clinical ethics framework
Existing quality of life scales for children in the general population or with other disabilities did not capture the QOL of children with Rett syndrome
How females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication
The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials
We evaluated family satisfaction following spinal fusion in girls with Rett syndrome