Suitability of a low-cost wearable sensor to assess turning in healthy adults

Background: Turning is a complex measure of gait that accounts for over 50 of daily steps. Traditionally, turning has been measured in a research grade laboratory setting, however, there is demand for a low-cost and portable solution to measure turning using wearable technology. This study aimed to determine the suitability of a low-cost inertial sensor-based device (AX6, Axivity) to assess turning, by simultaneously capturing and comparing to a turn algorithm output from a previously validated reference inertial sensor-based device (Opal), in healthy young adults. Methodology: Thirty participants (aged 23.9 ± 4.89 years) completed the following turning protocol wearing the AX6 and reference device: a turn course, a two-minute walk (including 180° turns) and turning in place, alternating 360° turn right and left. Both devices were attached at the lumbar spine, one Opal via a belt, and the AX6 via double sided tape attached directly to the skin. Turning measures included number of turns, average turn duration, angle, velocity, and jerk. Results: Agreement between the outcomes from the AX6 and reference device was good to excellent for all turn characteristics (all ICCs > 0.850) during the turning 360° task. There was good agreement for all turn characteristics (all ICCs > 0.800) during the two-minute walk task, except for moderate agreement for turn angle (ICC 0.683). Agreement for turn outcomes was moderate to good during the turns course (ICCs range; 0.580 to 0.870). Conclusions: A low-cost wearable sensor, AX6, can be a suitable and fit-for-purpose device when used with validated algorithms for assessment of turning outcomes, particularly during continuous turning tasks. Future work needs to determine the suitability and validity of turning in aging and clinical cohorts within low-resource setting

Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions

While germline copy-number variants (CNVs) contribute to schizophrenia (SCZ) risk, the contribution of somatic CNVs (sCNVs)—present in some but not all cells—remains unknown. We identified sCNVs using blood-derived genotype arrays from 12,834 SCZ cases and 11,648 controls, filtering sCNVs at loci recurrently mutated in clonal blood disorders. Likely early-developmental sCNVs were more common in cases (0.91%) than controls (0.51%, p = 2.68e−4), with recurrent somatic deletions of exons 1–5 of the NRXN1 gene in five SCZ cases. Hi-C maps revealed ectopic, allele-specific loops forming between a potential cryptic promoter and non-coding cis-regulatory elements upon 5′ deletions in NRXN1. We also observed recurrent intragenic deletions of ABCB11, encoding a transporter implicated in anti-psychotic response, in five treatment-resistant SCZ cases and showed that ABCB11 is specifically enriched in neurons forming mesocortical and mesolimbic dopaminergic projections. Our results indicate potential roles of sCNVs in SCZ risk