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A Comparative Study of Dual-X-ray Absorptiometry and Quantitative Ultrasonography for the Evaluating Bone Status in Subjects with Rett Syndrome

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Abstract

Rett syndrome, an X-linked neurodevelopmental disorder primarily affecting girls, is frequently characterized by a reduced bone mineral density (BMD) with an increased risk of fragility fractures. The aim of the study was to assess bone status by DXA technique and by quantitative ultrasound (QUS) in subjects with Rett syndrome and to evaluate which DXA or QUS parameters better correlate with clinical features. In 156 Rett subjects (mean age 13.6 ± 8.2 years) and in 62 controls, we measured BMD at femoral neck (BMD-FN) and at total femur (BMD-TF). Apparent volumetric bone mineral density (vBMAD) was also calculated. In all subjects, QUS parameters at phalanges by Bone Profiler-IGEA (amplitude-dependent speed of sound: AD-SoS and bone transmission time: BTT) were evaluated. We found that both DXA parameters and QUS parameters were significantly lower in Rett subjects than in controls. All clinical characteristics were positively correlated to BMD-FN, BMD-TF, AD-SoS, and BTT (p < 0.001) but not with vBMAD-FN. All ultrasonographic parameters were significantly correlated to BMD-FN and BMD-TF, whereas vBMAD-FN showed only positive significant correlation with densitometric parameters (p < 001). In Rett subjects BMD-FN was predicted primarily by weight and movement capacity, whereas vBMAD-FN was predicted by weight, height, and calcium intake. Moreover, AD-SoS was predicted by weight, height, and age, while BTT was predicted only by height. In conclusion, in our study the performance of QUS at phalanges was similar to those of BMD at femur, therefore, both areal BMD at femur and QUS at phalanges (AD-SoS and BTT) may be equally useful in the evaluation of skeletal status in Rett patients.

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Human and Animal Rights and Informed Consent

All procedures performed in the present study was in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants included in the study.

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Authors and Affiliations

  1. Department of Medicine, Surgery and Neuroscience, University of Siena, Siena, Italy

    C. Caffarelli, M. D. Tomai Pitinca, R. Nuti & S. Gonnelli

  2. Child Neuropsychiatry Unit, University Hospital, Azienda Ospedaliera Universitaria Senese, Siena, Italy

    J. Hayek

  3. Policlinico Le Scotte, Viale Bracci 2, 53100, Siena, Italy

    C. Caffarelli

Authors
  1. C. Caffarelli
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  2. J. Hayek
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  3. M. D. Tomai Pitinca
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  5. S. Gonnelli
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Correspondence to C. Caffarelli.

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Caffarelli, C., Hayek, J., Pitinca, M.D.T. et al. A Comparative Study of Dual-X-ray Absorptiometry and Quantitative Ultrasonography for the Evaluating Bone Status in Subjects with Rett Syndrome. Calcif Tissue Int 95, 248–256 (2014). https://doi.org/10.1007/s00223-014-9888-x

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  • DOI: https://doi.org/10.1007/s00223-014-9888-x

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