|Motil, Kathleen -|
|Ellis, Kenneth -|
|Barrish, Judy -|
|Caeg, Erwin -|
|Glaze, Daniel -|
Submitted to: Pediatric Research
Publication Type: Peer Reviewed Journal
Publication Acceptance Date: May 6, 2008
Publication Date: April 1, 2008
Citation: Motil, K.J., Ellis, K.J., Barrish, J.O., Caeg, E., Glaze, D.G. 2008. Bone mineral content and bone mineral density are lower in older than in younger females with Rett syndrome. Pediatric Research. 64(4):435-439. Interpretive Summary: Although girls and women with Rett syndrome (RTT) have an increased risk of bone fractures and scoliosis, the prevalence of low bone mineral content (BMC) and its relation with these bone problems have not been characterized fully. We found that low bone mineral content was present in 59% of girls and women with RTT. The deficits in bone mineral content were worse in older than in younger females. Bone fractures and scoliosis were present in 28% and 64%, respectively, of these individuals. Low bone mineral content was associated with increased risk of bone fractures and scoliosis. Our study is important because it underscores the need for a better understanding of the genetic and dietary factors that regulate bone mineral metabolism in RTT.
Technical Abstract: Although bone mineral deficits have been identified in Rett syndrome (RTT), the prevalence of low bone mineral density (BMD) and its association with skeletal fractures and scoliosis has not been characterized fully in girls and women with RTT. Accordingly, we measured total body bone mineral content (BMC) and BMD using dual energy x-ray absorptiometry in a cross-sectional group of 50 females, aged 2–38 y, with RTT. Methyl-CpG-binding 2 (MECP2) mutations, skeletal fractures, and scoliosis were documented. The prevalence of BMC and BMD z scores < or -2 SD was 59 and 45%, respectively. Although absolute BMC and BMD increased significantly with increasing age, BMC, and BMD z scores were significantly lower in older than in younger females. The prevalence of fractures and scoliosis was 28 and 64%, respectively. Low BMD z scores were positively associated with fractures and scoliosis. Deficits in BMD were identified across a broad range of MECP2 mutations. This study identified associations among low BMD, fractures, and scoliosis, and underscored the need for better understanding of the molecular mechanisms of MECP2 in the regulation of bone mineral metabolism.