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Vitamin D Deficiency Is Prevalent in Girls and Women With Rett Syndrome

Motil, Kathleen J.*; Barrish, Judy O.*; Lane, Jane; Geerts, Suzanne P.; Annese, Fran||; McNair, Lauren||; Percy, Alan K.§; Skinner, Steven A.||; Neul, Jeffrey L.*; Glaze, Daniel G.*

Journal of Pediatric Gastroenterology & Nutrition: November 2011 - Volume 53 - Issue 5 - p 569–574
doi: 10.1097/MPG.0b013e3182267a66
Original Article: Hepatology and Nutrition

Objectives: 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).

Subjects and Methods: 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.

Results: 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.

Conclusions: 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.

*Department of Pediatrics, Baylor College of Medicine, Houston, TX

Civitan International Research Center

Civitan-Sparks Clinics

§Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL

||Greenwood Genetics Center, Greenwood, SC.

Address correspondence and reprint requests to Kathleen J. Motil, MD, PhD, Children's Nutrition Research Center, 1100 Bates St, Houston, TX 77030 (e-mail: kmotil@bcm.edu).

Received 4 April, 2011

Accepted 26 May, 2011

Drs Motil, Skinner, Percy, Neul, and Glaze, and Ms Barrish, Lane, Geerts, Annese, and McNair received financial support for the research from the National Institutes of Health (NCRR U54 RR019478, U54 HD061222). Funding for this project was provided by the Office of Rare Diseases Research, the Blue Bird Circle, the Rett Syndrome Association of Illinois, and the US Department of Agriculture, Agricultural Research Service (Cooperative Agreement No. 58-6250-1-003). The content of this publication does not necessarily reflect the views or policies of the US Department of Agriculture or the Department of Health and Human Services, nor does mention of trade names, commercial practices, or organizations imply endorsement by the US government.

Copyright 2011 by ESPGHAN and NASPGHAN