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Title: Osteopenia is present at an early age and worsens across the life span in girls and women with Rett syndrome

Author
item Motil, Kathleen
item BARRISH, JUDY - BAYLOR COLLEGE MED
item Ellis, Kenneth
item CAEG, ERWIN - BAYLOR COLLEGE MED
item NEUL, JEFFREY - BAYLOR COLLEGE MED
item GLAZE, DANIEL - BAYLOR COLLEGE MED

Submitted to: Pediatric Academic Society
Publication Type: Abstract Only
Publication Acceptance Date: 5/1/2006
Publication Date: 5/1/2006
Citation: Motil, K.J., Barrish, J.O., Ellis, K., Caeg, E., Neul, J., Glaze, D.G. 2006. Osteopenia is present at an early age and worsens across the life span in girls and women with Rett syndrome [abstract]. Pediatric Academic Societies Annual Meeting. 59:4815.63. Available: http://www.abstracts2view.com/pas/view.php?nu=PAS6L1_1113.

Interpretive Summary:

Technical Abstract: Girls and women with Rett syndrome (RTT) are at increased risk for osteopenia and skeletal fractures. Our objective was to characterize the natural history of bone mineralization in RTT girls and women across their life span and to identify genetic, nutritional, physical, hormonal, or inflammatory factors associated with bone mineral loss. Total body bone mineral content (BMC) and bone mineral density (BMD) were determined in 44 RTT girls and women (median age 8.3 y, range 2-37 y) by dual energy x-ray absorptiometry and converted to z-scores (ZS). RTT mutations were classified as missense or early or late truncation genotypes. Skeletal fractures were determined from medical history. Dietary nutrient intakes were estimated from 3-day food records. Physical activity was based on ambulatory status. Blood and urine samples were collected for measures of hormone and inflammatory markers using standard laboratory techniques. BMC ZS (-2.1 +/- 1.0) and BMD ZS (-1.7 +/- 1.2) of RTT girls and women were below (p<0.01) normal reference standards. Although BMC and BMD increased with age (p<0.01, r=0.83), their corresponding ZS decreased (p<0.05, r=0.31) in RTT girls and women. BMC and BMD ZS of RTT subjects with skeletal fractures were lower (p<0.05) than those without fractures. BMC and BMD were associated with energy (p<0.05, r=0.42), protein (p<0.01, r=0.53), calcium (p<0.01, r=0.30), and phosphorus (p<0.01, r=0.55) intakes. Phenotype-genotype correlations between BMC or BMD and gene groups were not detected. Correlations between ambulatory status, hormone profiles, or inflammatory markers and BMC or BMD were not detected. Osteopenia is present at an early age and worsens across the life span in RTT girls and women. Over the long term, bone mineral loss may be amenable, in part, to dietary modifications.