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Cited by 46Vitamin D Research StudiesGenetics and Neurodevelopmental DisordersChild Nutrition and Feeding Issues

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

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Motil, Kathleen J., Barrish, Judy O., Lane, Jane, Geerts, Suzanne P., Annese, Fran, McNair, Lauren, Percy, Alan K., Skinner, Steven A. +2 more·2011·Journal of Pediatric Gastroenterology and Nutrition
DOI 10.1097/mpg.0b013e3182267a66PMC PMC3638258
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Abstract

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.

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  • Some RTT patients have bone abnormalities, severe gastrointestinal problems and biliary tract disorders.

    “Interestingly, some RTT patients have bone abnormalities, severe gastrointestinal problems and biliary tract disorders [174–176].”

    From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [175]

    The Discussion reports low bone mineral density and increased fracture risk in females with Rett syndrome, and the Results report scoliosis in 54% of the cohort. Our copy does not report severe gastrointestinal problems or biliary tract disorders in these patients, so it supports only the bone-abnormalities part of the sentence. (LLM, conf=0.88)

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Research works printed but not linked: 36

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Authors
Motil, K. J., Barrish, J. O., Lane, J., Geerts, S. P., Annese, F., McNair, L., Percy, A. K., Skinner, S. A., Neul, J. L., & Glaze, D. G.
Affiliations
  • Baylor College of Medicine (US)
  • Civitan International (US)
  • University of Alabama at Birmingham (US)
  • Greenwood Genetic Center (US)
Corresponding author
  • Motil, Kathleen J.
  • Barrish, Judy O.
  • Neul, Jeffrey L.
  • Glaze, Daniel G.
ORCID
Venue
Journal of Pediatric Gastroenterology and Nutrition
Publisher
Wiley
Published
2011-11
Volume
53
Issue
5
Pages
569-574
ISSN
  • 0277-2116 (ISSN-L)
  • 1536-4801
DOI
10.1097/mpg.0b013e3182267a66
PMC
PMC3638258
OpenAlex
W197922364
Cited by
46
References
1
Citations by year
2026: 4 · 2025: 1 · 2024: 5 · 2023: 4 · 2022: 3 · 2021: 6 · 2020: 5 · 2018: 2 · 2017: 2 · 2016: 5 · 2015: 1 · 2014: 5 · 2013: 3
FWCI
1.80
Type
journal article
Language
en
Open access
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations
  • Journal of Pediatric Gastroenterology and Nutrition (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • National Center for Research Resources (U54RR019478)
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (U54HD061222)
Topics
  • Health Sciences › Medicine › Pathology and Forensic Medicine › Vitamin D Research Studies
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Health Sciences › Medicine › Psychiatry and Mental health › Child Nutrition and Feeding Issues
Keywords
Rett syndrome, vitamin D deficiency, 25-hydroxyvitamin D, multivitamins, antiepileptic drugs, parathyroid hormone, nutritional status, bone mineralization, bone fractures, MeCP2, women and girls
MeSH terms
Adolescent, Anticonvulsants, Child, Child, Preschool, Dairy Products, Diet, Female, Humans, Nutritional Status, Parathyroid Hormone, Regression Analysis, Retrospective Studies, Vitamin D, Vitamin D Deficiency, Vitamins, Rett Syndrome, Prevalence, Dietary Supplements, Methyl-CpG-Binding Protein 2

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