DXA measurements in rett syndrome reveal small bones with low bone mass

Gitte Roende, Kirstine Ravn, Kathrine Fuglsang, Henrik Andersen, Jytte Bieber Nielsen, Karen Brøndum-Nielsen, Jens-Erik Beck Jensen

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30 Citations (Scopus)

Abstract

Low bone mass is reported in growth-retarded patients harboring mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene causing Rett syndrome (RTT). We present the first study addressing both bone mineral density (BMD) and bone size in RTT. Our object was to determine whether patients with RTT do have low BMD when correcting for smaller bones by examination with dual-energy X-ray absorptiometry (DXA). We compared areal BMD (aBMD(spine) and aBMD(total hip) ) and volumetric bone mineral apparent density (vBMAD(spine) and vBMAD(neck) ) in 61 patients and 122 matched healthy controls. Further, spine and hip aBMD and vBMAD of patients were associated with clinical risk factors of low BMD, low-energy fractures, MECP2 mutation groups, and X chromosome inactivation (XCI). Patients with RTT had reduced bone size on the order of 10% and showed lower values of spine and hip aBMD and vBMAD (p¿
Original languageEnglish
JournalJournal of Bone and Mineral Research
Volume26
Issue number9
Pages (from-to)2280-6
Number of pages7
ISSN0884-0431
DOIs
Publication statusPublished - 1 Sep 2011

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