Search

Delaying the time of start of school allows for longer sleep duration, better mood, and better school performance. In South Korea, a campaign was launched in 2014 to delay the school start time to 9 a.m. We analyzed the campaign’s effects on adolescents’ total sleep duration, sleepiness (presented as weekend catch-up sleep), emotions, and school performance. Based on data from 2013, changes of sleep patterns, emotions, and academic achievement in adolescents were evaluated using the 2012–2016 Korea Youth Risk Behavior Web-based survey from two educational districts: Gyeonggi (fully participated in the delayed school start time campaign; intervention group) and Daegu/Gyeongbuk/Ulsan (DGU, never participated; control group). The primary outcomes were sleep duration, time of sleep onset, and difference in sleep duration between weekdays and the weekend. Secondary outcomes were the proportional changes of mood, stress, and school performance. The sleep duration of students in the intervention group temporarily increased in 2015. However, because there was a simultaneous delay in time of sleep onset, sleep duration returned to pre-campaign levels in 2016. Although sleep duration did not increase, weekend catch-up sleep decreased by approximately 19 minutes for students in the intervention group. Meanwhile, in the control group sleep duration tended to decrease over the same period. The impact of the campaign on students' emotions and school performance could not be confirmed. This study demonstrated that delaying the school start time to 9 a.m. reduced duration of weekend catch-up sleep with a transient increase in sleep duration in adolescents. [ABSTRACT FROM AUTHOR]

Background: The diagnostic yield of whole-exome sequencing (WES) varies from 30%–50% among patients with mild to severe neurodevelopmental delay (NDD)/intellectual disability (ID). Routine retrospective reanalysis of undiagnosed patients has increased the total diagnostic yield by 10–15%. Here, we performed proband-only WES of 1065 patients with NDD/ID and applied a prospective, daily reanalysis automated pipeline to patients without clinically significant variants to facilitate diagnoses. Methods: The study included 1065 consecutive patients from 1056 nonconsanguineous unrelated families from 10 multimedical centers in South Korea between April 2018 and August 2021. WES data were analyzed daily using automatically updated databases with variant classification and symptom similarity scoring systems. Results: At the initial analysis, 402 patients from 1056 unrelated families (38.0%, 402/1,056 families) had a positive genetic diagnosis. Daily prospective, automated reanalysis resulted in the identification of 34 additional diagnostic variants in 31 patients (3%), which increased our molecular diagnostic yield to 41% (433/1056 families). Among these 31 patients, 26 were diagnosed with 23 different diseases that were newly discovered after 2019. The time interval between the first analysis and the molecular diagnosis by reanalysis was 1.2 ± 0.9 years, which was shorter in the patients enrolled during the latter part of the study period. Conclusion: Daily updated databases and reanalysis systems enhance the diagnostic performance in patients with NDD/ID, contributing to the rapid diagnosis of undiagnosed patients by applying the latest molecular genetic information. [ABSTRACT FROM AUTHOR]

Background: Concomitant administration of allogeneic umbilical cord blood (UCB) infusion and erythropoietin (EPO) showed therapeutic efficacy in children with cerebral palsy (CP). However, no clinical studies have investigated the effects of UCB and EPO combination therapy using a 2 × 2 four-arm factorial blinded design with four arms. This randomized placebo-controlled trial aimed to identify the synergistic and individual efficacies of UCB cell and EPO for the treatment of CP. Methods: Children diagnosed with CP were randomly segregated into four groups: (A) UCB+EPO, (B) UCB+placebo EPO, (C) placebo UCB+EPO, and (D) placebo UCB+placebo EPO. Based on the UCB unit selection criteria of matching for ≥ 4/6 of human leukocyte antigen (HLA)-A, -B, and DRB1 and total nucleated cell (TNC) number of ≥ 3 × 107/kg, allogeneic UCB was intravenously infused and 500 IU/kg human recombinant EPO was administered six times. Functional measurements, brain imaging studies, and electroencephalography were performed from baseline until 12 months post-treatment. Furthermore, adverse events were closely monitored. Results: Eighty-eight of 92 children enrolled (3.05 ± 1.22 years) completed the study. Change in gross motor performance measure (GMPM) was greater in group A than in group D at 1 month (△2.30 vs. △0.71, P = 0.025) and 12 months (△6.85 vs. △2.34, P = 0.018) post-treatment. GMPM change ratios were calculated to adjust motor function at the baseline. Group A showed a larger improvement in the GMPM change ratio at 1 month and 12 months post-treatment than group D. At 12 months post-treatment, the GMPM change ratios were in the order of groups A, B, C, and D. These results indicate synergistic effect of UCB and EPO combination better than each single therapy. In diffusion tensor imaging, the change ratio of fractional anisotropy at spinothalamic radiation was higher in group A than group D in subgroup of age ≥ 3 years. Additionally, higher TNC and more HLA-matched UCB units led to better gross motor outcomes in group A. Adverse events remained unchanged upon UCB or EPO administration. Conclusions: These results indicate that the efficacy of allogeneic UCB cell could be potentiated by EPO for neurological recovery in children with CP without harmful effects. Trial registration: ClinicalTrials.gov, NCT01991145, registered 25 November 2013. [ABSTRACT FROM AUTHOR]