Reduced Volumetric Bone Mineral Density of the Spine in Adolescent Rett Girls with Scoliosis

Abstract

In advanced Rett syndrome (RTT), limited or complete loss of ambulation, nutritional problems and scoliosis are unfavorable factors for bone mineral density (BMD). Still, there are few data available in this research area. Spinal quantitative computed tomography (QCT) allows an exact measurement of the volumetric BMD (vBMD) in this patient group. Two examiners measured vBMD of thoracic and lumbar vertebrae on asynchronous calibrated CTs that were acquired prior to surgical scoliosis correction (n = 21, age 13.6 ± 2.5 years). The values were compared to age- and sex-matched healthy controls to additionally derive Z-scores (n = 22, age 13.8 ± 2.0 years). The results showed the most significant reduction of vBMD values in non-ambulatory RTT patients, with p < 0.001 and average BMD-Z-score −1.5 ± 0.2. In the subgroup comparison, non-ambulatory patients with valproate treatment had significant lower values (p < 0.001) than ambulatory patients without valproate therapy, with an average BMD-Z-score of −2.3 ± 0.2. Comparison of the Z-scores to critical BMD thresholds of 120 and 80 mg/cm3 showed normal Z-scores in case of the ambulatory RTT subgroup, as opposed to BMD-Z-scores of the non-ambulatory RTT subgroups, which were partially below osteopenia-equivalent values. Furthermore, valproate treatment seems to have a direct effect on vBMD in RTT patients and when combined with loss of ambulation, BMD-Z-scores are reduced to osteoporosis-equivalent levels or even further.

Bone Fracture in Rett Syndrome: Mechanisms and Prevention Strategies

“…The loss of the mechanical factor at a pediatric age can affect skeletal development and the achievement of an adequate bone mass peak [35]. The reduction in walking capacity or complete immobility leads to a reduction in bone mineral density, resulting in increased fractures for minor trauma [36]. Similarly, in a previous study by Presedo A et al that identified a risk factor for fracture in a population of patients with cerebral palsy, the most often affected sites were the distal femur or proximal tibia [37].…”

Use of a low-tech tool in the improvement of social interaction of patients with Rett Syndrome: an observational study

“…After the regression phase, in the third pseudostationary stage, the disorder is mainly stable, but seizures, ataxia, and scoliosis appear. The last phase, by about 10 years of age, is the final late motor deterioration stage, scoliosis worsens, and mobility is often so severely limited that most patients will require the use of a wheelchair (6)(7)(8)(9).…”