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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.
This study explored facilitators and barriers to "uptime" (non-sedentary) activities in Danish girls and women with Rett syndrome
High levels of sedentary time and low daily step counts in a Danish population of females with Rett syndrome
Social advantage may provide some protection for dental health in individuals with Rett syndrome
Gastrostomy placement was associated with improvement in BMI in females with Rett syndrome, but its long-term impact on individuals and their families is unclear
Rett syndrome is associated with increased vulnerability to lower respiratory tract infection requiring hospitalization
Attention to sleep hygiene remains an important management strategy for sleep problems in Rett syndrome
We investigated the effects of environmental enrichment on gross motor skills and blood BDNF levels in girls with Rett syndrome.