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Rett syndrome research reveals high fracture riskGirls and young women with Rett syndrome are nearly four times more likely to suffer a fracture.
News & Events
New study reveals Rett syndrome can strike malesA new study has found that the genetic flaw responsible for Rett syndrome can strike males, even where there isn't a family history of the rare brain disorder.
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Research
International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USAThe clinical, research and advocacy communities for Rett syndrome are striving to achieve clinical trial readiness, including having fit-for-purpose clinical outcome assessments. This study aimed to (1) describe psychometric properties of clinical outcome assessment for Rett syndrome and (2) identify what is needed to ensure that fit-for-purpose clinical outcome assessments are available for clinical trials.
Research
Bone mineral content and density in Rett syndrome and their contributing factorsThis study used densitometry to investigate the areal bone mineral density (aBMD) and bone mineral content (BMC) in an Australian Rett syndrome cohort...
Research
The common BDNF polymorphism may be a modifier of disease severity in Rett syndromeRett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2).
Research
Investigating genotype-phenotype relationships in Rett syndrome using an international data setThis study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in...
Research
Approaches to study the lifelong trajectories of children with neurodevelopmental conditionsWe argue that population-based studies are critical to overcome the selection bias seen in many clinical samples and to identify true variability within a...