Assessment of fatigability in patients with spinal muscular atrophy: development and content validity of a set of endurance tests.

BACKGROUND: Fatigability has emerged as an important dimension of physical impairment in patients with Spinal Muscular Atrophy (SMA). At present reliable and valid outcome measures for both mildly and severely affected patients are lacking. Therefore the primary aim of this study is the development of clinical outcome measures for fatigability in patients with SMA across the range of severity. METHODS: We developed a set of endurance tests using five methodological steps as recommended by the 'COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN). In this iterative process, data from multiple sources were triangulated including a scoping review of scientific literature, input from a scientific and clinical multidisciplinary expert panel and three pilot studies including healthy persons (N = 9), paediatric patients with chronic disorders (N = 10) and patients with SMA (N = 15). RESULTS: Fatigability in SMA was operationalised as the decline in physical performance. The following test criteria were established; one method of testing for patients with SMA type 2-4, a set of outcome measures that mimic daily life activities, a submaximal test protocol of repetitive activities over a longer period; external regulation of pace. The scoping review did not generate suitable outcome measures. We therefore adapted the Endurance Shuttle Walk Test for ambulatory patients and developed the Endurance Shuttle Box and Block Test and the - Nine Hole Peg Test for fatigability testing of proximal and distal arm function. Content validity was established through input from experts and patients. Pilot testing showed that the set of endurance tests are comprehensible, feasible and meet all predefined test criteria. CONCLUSIONS: The development of this comprehensive set of endurance tests is a pivotal step to address fatigability in patients with SMA.

Ultrashort echo time (UTE) MRI for the assessment of caries lesions.

OBJECTIVE: Direct in vivo MRI of dental hard tissues by applying ultrashort echo time (UTE) MRI techniques has recently been reported. The objective of the presented study is to clinically evaluate the applicability of UTE MRI for the identification of caries lesions. METHODS: 40 randomly selected patients (mean age 41 ± 15 years) were enrolled in this study. 39 patients underwent a conventional clinical assessment, dental bitewing X-ray and a dental MRI investigation comprising a conventional turbo-spin echo (TSE) and a dedicated UTE scan. One patient had to be excluded owing to claustrophobia. In four patients, the clinical treatment of the lesions was documented by intraoral pictures, and the resulting volume of the cavity after excavation was documented by dental imprints and compared with the MRI findings. RESULTS: In total, 161 lesions were identified. 157 (97%) were visible in the UTE images, 27 (17%) in the conventional TSE images and 137 (85%) in the X-ray images. In total, 14 teeth could not be analysed by MR owing to artefacts caused by dental fillings. All lesions appear significantly larger in the UTE images as compared with the X-ray and TSE images. In situ measurements confirm the accuracy of the lesion dimensions as observed in the UTE images. CONCLUSION: The presented data provide evidence that UTE MR imaging can be applied for the identification of caries lesions. Although the current data suggest an even higher sensitivity of UTE MRI, some limitations must be expected from dental fillings.

Review of prediction models to estimate activity-related energy expenditure in children and adolescents.

Purpose. To critically review the validity of accelerometry-based prediction models to estimate activity energy expenditure (AEE) in children and adolescents. Methods. The CINAHL, EMBASE, PsycINFO, and PubMed/MEDLINE databases were searched. Inclusion criteria were development or validation of an accelerometer-based prediction model for the estimation of AEE in healthy children or adolescents (6-18 years), criterion measure: indirect calorimetry, or doubly labelled water, and language: Dutch, English or German. Results. Nine studies were included. Median methodological quality was 5.5 +/- 2.0 IR (out of a maximum 10 points). Prediction models combining heart rate and counts explained 86-91% of the variance in measured AEE. A prediction model based on a triaxial accelerometer explained 90%. Models derived during free-living explained up to 45%. Conclusions. Accelerometry-based prediction models may provide an accurate estimate of AEE in children on a group level. Best results are retrieved when the model combines accelerometer counts with heart rate or when a triaxial accelerometer is used. Future development of AEE prediction models applicable to free-living scenarios is needed.