title: Vitamin D deficiency is prevalent in girls and women with Rett syndrome.
abstract: OBJECTIVE
  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).
  
  
  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.
authors.affiliation: Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA. kmotil@bcm.edu
authors.forename: Kathleen J
authors.initials: KJ
authors.lastname: Motil
authors.forename: Judy O
authors.initials: JO
authors.lastname: Barrish
authors.forename: Jane
authors.initials: J
authors.lastname: Lane
authors.forename: Suzanne P
authors.initials: SP
authors.lastname: Geerts
authors.forename: Fran
authors.initials: F
authors.lastname: Annese
authors.forename: Lauren
authors.initials: L
authors.lastname: McNair
authors.forename: Alan K
authors.initials: AK
authors.lastname: Percy
authors.forename: Steven A
authors.initials: SA
authors.lastname: Skinner
authors.forename: Jeffrey L
authors.initials: JL
authors.lastname: Neul
authors.forename: Daniel G
authors.initials: DG
authors.lastname: Glaze
mesh_terms: D000293:Adolescent; D000927:Anticonvulsants / Q000008:administration & dosage; D002648:Child; D002675:Child, Preschool; D003611:Dairy Products; D004032:Diet; D019587:Dietary Supplements; D005260:Female; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics / Q000378:metabolism; D009752:Nutritional Status; D010281:Parathyroid Hormone / Q000097:blood; D015995:Prevalence; D012044:Regression Analysis; D012189:Retrospective Studies; D015518:Rett Syndrome / Q000150:complications* / Q000453:epidemiology; D014807:Vitamin D / Q000008:administration & dosage / Q000031:analogs & derivatives* / Q000097:blood; D014808:Vitamin D Deficiency / Q000150:complications / Q000453:epidemiology*; D014815:Vitamins / Q000008:administration & dosage / Q000097:blood*
chemical_list: D000927:Anticonvulsants; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D010281:Parathyroid Hormone; D014815:Vitamins; D014807:Vitamin D; C104450:25-hydroxyvitamin D