Vitamin D deficiency is prevalent in girls and women with Rett syndrome

J Pediatr Gastroenterol Nutr. 2011 Nov;53(5):569-74. doi: 10.1097/MPG.0b013e3182267a66.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adolescent
  • Anticonvulsants / administration & dosage
  • Child
  • Child, Preschool
  • Dairy Products
  • Diet
  • Dietary Supplements*
  • Female
  • Humans
  • Methyl-CpG-Binding Protein 2 / genetics
  • Methyl-CpG-Binding Protein 2 / metabolism
  • Nutritional Status
  • Parathyroid Hormone / blood
  • Prevalence
  • Regression Analysis
  • Retrospective Studies
  • Rett Syndrome / complications*
  • Rett Syndrome / epidemiology
  • Vitamin D / administration & dosage
  • Vitamin D / analogs & derivatives*
  • Vitamin D / blood
  • Vitamin D Deficiency / complications
  • Vitamin D Deficiency / epidemiology*
  • Vitamins / administration & dosage
  • Vitamins / blood*


  • Anticonvulsants
  • MECP2 protein, human
  • Methyl-CpG-Binding Protein 2
  • Parathyroid Hormone
  • Vitamins
  • Vitamin D
  • 25-hydroxyvitamin D