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 ...
Atypical Presentations and Specific Genotypes Are Associated With a Delay in Diagnosis in Females With Rett SyndromeFehr, S.; Downs, Jennepher; Bebbington, A.; Leonard, H. (2010)There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors. We hypothesized that girls with an atypical presentation or whose ...
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 ...