Factors affecting skeletal integrity in an Australia Rett syndrome cohort and best practice guidelines for prevention and management of low bone density in Rett syndrome
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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. Consensus-based clinical management guidelines provided recommendations for clinical assessment and pharmacological and non-pharmacological interventions. These data have the potential to reduce the frequency of fractures in Rett syndrome and stimulate further research that aims to ameliorate the impacts of poor bone health.
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Downs, Jennepher; Stahlhut, M.; Wong, K.; Syhler, B.; Bisgaard, A.; Jacoby, P.; Leonard, H. (2016)© 2016 Downs et al. Rett syndrome is a pervasive neurodevelopmental disorder associated with a pathogenic mutation on the MECP2 gene. Impaired movement is a fundamental component and the Rett Syndrome Gross Motor Scale ...
Downs, Jennepher; Parkinson, Stephanie; Ranelli, Sonia; Leonard, H.; Diener, P.; Lotan, M. (2014)Objective: Rett syndrome is a rare neurodevelopmental disorder that is usually associated with a mutation on the X-linked MECP2 gene. Hand function is particularly affected and we discuss theoretical and practical ...
Mangatt, M.; Wong, K.; Anderson, B.; Epstein, A.; Hodgetts, S.; Leonard, H.; Downs, Jennepher (2016)Background: Initially described as an early onset seizure variant of Rett syndrome, the CDKL5 disorder is now considered as an independent entity. However, little is currently known about the full spectrum of comorbidities ...