ARS | Publication request: Vitamin D deficiency is prevalent in girls and women with rett syndrome

Submitted to: Journal of Pediatric Gastroenterology and Nutrition
Publication Type: Peer Reviewed Journal
Publication Acceptance Date: May 26, 2011
Publication Date: November 1, 2011
Citation: Motil, K.J., Barrish, J.O., Lane, J.B., Geerts, S.P., Annese, F., Mcnair, L., Percy, A.K., Skinner, S.A., Neul, J.L., Glaze, D.G. 2011. Vitamin D deficiency is prevalent in girls and women with rett syndrome. Journal of Pediatric Gastroenterology and Nutrition. 53(5):569-574.

Interpretive Summary: Girls and women with Rett syndrome (RTT) have an increased risk of low bone mineral density. Consequently, individuals with RTT are at increased risk for skeletal fractures with advanced age. Vitamin D is a prohormone essential for the absorption of calcium from the gut and may prevent the adverse consequences of poor bone mineralization. We designed this study to determine the prevalence of vitamin D deficiency and identify the relation between vitamin D and the consumption of dietary sources of vitamin D in females with RTT. We found that vitamin D deficiency is prevalent in females with RTT. The use of multivitamin supplements or commercial formulas is associated with improved vitamin D status in these individuals. This study is significant because attention to vitamin D nutriture may improve bone health.

Technical Abstract: The aim of the study was to determine the prevalence of vitamin D deficiency and identify the relation between 25-hydroxyvitamin D (25-(OH)D) levels and the consumption of dietary sources of vitamin D or exposure to anticonvulsants in girls and women with Rett syndrome (RTT). Retrospective review of the medical records of 284 girls and women with RTT to determine serum 25-(OH)D and parathyroid hormone levels, nutritional status, dietary sources of vitamin D, exposure to anticonvulsants, degree of mobility, and MECP2 status. Twenty percent of girls and women who were tested (n'='157) had 25-(OH)D levels <50'nmol/L. Multivitamin supplements, vitamin D-fortified milk, and commercial formulas were consumed by 40%, 52%, and 54%, respectively. Anticonvulsants were used by 57%, and 39% ambulated independently. Median 25-(OH)D levels were lower in individuals who did not receive multivitamin supplements (P'<'0.05) or commercial formulas (P'<'0.001) than in those who did. Median 25-(OH)D levels differed (P'<'0.01) among racial and ethnic groups, but the number in some groups was small. Nutritional status, use of anticonvulsants, degree of mobility, and MECP2 status did not influence 25-(OH)D levels. Vitamin D deficiency is prevalent in girls and women with RTT. The use of multivitamin supplements or commercial formulas is associated with improved vitamin D levels. Attention to vitamin D may enhance bone mineral deposition and reduce the frequency of bone fractures in these individuals.