Clinical and biological progress over 50 years in Rett syndrome
MetadataShow full item record
In the 50 years since Andreas Rett first described the syndrome that came to bear his name, and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) gene, a compelling blend of astute clinical observations and clinical and laboratory research has substantially enhanced our understanding of this rare disorder. Here, we document the contributions of the early pioneers in Rett syndrome (RTT) research, and describe the evolution of knowledge in terms of diagnostic criteria, clinical variation, and the interplay with other Rett-related disorders. We provide a synthesis of what is known about the neurobiology of MeCP2, considering the lessons learned from both cell and animal models, and how they might inform future clinical trials. With a focus on the core criteria, we examine the relationships between genotype and clinical severity. We review current knowledge about the many comorbidities that occur in RTT, and how genotype may modify their presentation. We also acknowledge the important drivers that are accelerating this research programme, including the roles of research infrastructure, international collaboration and advocacy groups. Finally, we highlight the major milestones since 1966, and what they mean for the day‑to‑day lives of individuals with RTT and their families.
Showing items related by title, author, creator and subject.
Factors affecting skeletal integrity in an Australia Rett syndrome cohort and best practice guidelines for prevention and management of low bone density in Rett syndromeJefferson, Amanda Louise (2016)Rett syndrome is a rare genetic neurodevelopmental disorder. Cross sectional and longitudinal densitometry assessment in Rett syndrome found decreased bone density with age but muscle mass and mensus afforded some protection. ...
Stahlhut, M.; Downs, Jennepher; Leonard, H.; Bisgaard, A.; Nordmark, E. (2017)Background: The repertoire of measures of walking in Rett syndrome is limited. This study aimed to determine measurement properties of a modified two-minute walk test (2MWT) and a modified Rett syndrome-specific functional ...
Leonard, H.; Ravikumara, M.; Baikie, G.; Naseem, N.; Ellaway, C.; Percy, A.; Abraham, S.; Geerts, S.; Lane, J.; Jones, M.; Bathgate, Katherine; Downs, J. (2013)Objectives: We developed recommendations for the clinical management of poor growth and weight gain in Rett syndrome through evidence review and the consensus of an expert panel of clinicians.Methods: Initial draft ...