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 ...
Barriers to diagnosis of a rare neurological disorder in China - Lived experiences of Rett Syndrome familiesLim, F.; Downs, Jennepher; Li, Jianghong; Bao, X.; Leonard, H. (2012)Rett syndrome is a rare neurological disorder affecting girls and usually caused by a mutation on the MECP2 gene. It is estimated that approximately 1,000 girls are born every year in China with Rett syndrome but far fewer ...