Bone mineral content and density in Rett syndrome and their contributing factors.

Jefferson AL, Woodhead HJ, Fyfe S, Briody J, Bebbington A, Strauss BJ, Jacoby P, Leonard H
Pediatr Res. 2011 69 (4): 293-8

PMID: 21178825 · PMCID: PMC3906210 · DOI:10.1203/PDR.0b013e31820b937d

This study used densitometry to investigate the areal bone mineral density (aBMD) and bone mineral content (BMC) in an Australian Rett syndrome cohort and to assess how factors such as genotype, epilepsy, BMI, and mobility affect these parameters. The influence of lean tissue mass (LTM) and bone area (BA) on total body BMC (TBBMC) was also investigated. Participants, recruited from the Australian Rett Syndrome Database (ARSD), had TBBMC and lumbar spine (LS) and femoral neck (FN) aBMD measured using Dual energy x-ray absorptiometry. Mean height standardized Z scores and CIs for the bone outcomes were obtained from multiple regression models. The mean height Z score for the FN aBMD was low at -2.20, while the LS aBMD was -0.72. The TBBMC mean height Z score was -0.62, although once adjusted for BA and LTM, the mean was above zero, suggesting that low BMC can be explained by narrow bones and decreased muscle mass, likely secondary to decreased mobility. Multiple linear regression identified the p.R168× and p.T158M mutations as the strongest predictors of low aBMC and BMD for all bone outcomes. The strong relationship between genotype, BMC, and aBMD is likely underpinned by the strong relationship between LTM, mobility, and bone outcome measures.

MeSH Terms (12)

Absorptiometry, Photon Adult Australia Body Composition Body Height Bone Density Child Databases, Factual Female Humans Rett Syndrome Surveys and Questionnaires

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