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Patients with Rett syndrome face severe vitamin D deficiency
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Deficiencies in vitamin D are significantly more prevalent among patients with Rett syndrome than previously thought, according to findings from a report in the Journal of Clinical Endocrinology and Metabolism.
“Also, [patients with Rett syndrome] appear to be at a significantly higher risk of developing low serum [25-hydroxyvitamin D] levels than females of the same age with other neurological diseases,” Adrijan Sarajlija, MD, of the department of metabolism and clinical genetics at the Mother and Child Health Institute of Serbia, and colleagues wrote. “There is high probability that the prevention and correction of vitamin D deficiency would have beneficial effects on bone health, their overall condition and possibly even on seizure control in [patients with Rett syndrome].”
Adrijan Sarajilija
The cross-sectional study included 35 patients with Rett syndrome (aged 30 months-22 years) and 35 age-matched female controls with other neurological diseases (ie, epilepsy and developmental disabilities).
The median serum 25-(OH)D levels among patients with Rett syndrome was 26.25 nmol/L, with values <75 nmol/L in all patients.
Severe deficiencies in 25-(OH)D were observed in 17 of 35 (48.6%) patients. The median 25-(OH)D concentration was significantly lower in patients with Rett syndrome compared with controls (46 nmol/L), according to data.
There also was a 35.3% risk for fracture in patients with Rett syndrome by age 12 years. Researchers reported an inverse correlation of 25-(OH)D level to age and parathyroid hormone levels (P=.011).
Those receiving multiple antiepileptic therapies displayed a 3.3 times greater likelihood to have severe vitamin D deficiency compared with patients treated with a single agent, researchers wrote.
“We may predict that timely supplementation of vitamin D deficiency could be useful in reducing the risk for osteoporosis and subsequent fractures in Rett syndrome patients,” Sarajlija and colleagues wrote.
Disclosure: The researchers report no relevant financial disclosures.
Perspective
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Tamara L. Wexler, MD, PhD
This study describes vitamin D levels in patients with Rett syndrome compared with patients with other neurological issues.
There is a known association between low vitamin D levels and Rett syndrome, borne out in the authors’ results. The major conclusion of this study is that patients with Rett syndrome have a greater risk for lower vitamin D levels compared with similar patients with other neurological syndromes. However, the causality of the low vitamin D levels is not clarified. Therefore, it is possible that the studied population may have experienced other known risk factors for low vitamin D such as reduced sunlight exposure, altered nutritional intake or absorption, etc., in addition to the antiepileptic medications studied.
Further research on the effects of particular antiepileptic drugs — which are alluded to in the article — might help elucidate the relationship between specific medications and low D levels. Still, the primary message remains: measure vitamin D levels and supplement them. Currently, the effects of vitamin D supplementation on the osteopenia of Rett syndrome are being studied at other centers.
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