Repetitively counting sheep: Sleep as a moderator of executive function performance on obsessive-compulsive symptoms

As a leading cause of disability worldwide, Obsessive-Compulsive Disorder (OCD) is associated with considerable costs on individual and economic levels. According to a U.S. national comorbidity survey, approximately 28% of individuals experience obsessive-compulsive (OC) symptoms in their lifetime. As with most psychiatric disorders, sleep disturbances are highly prevalent in individuals with OCD and have been linked to greater severity of OC symptoms and poorer treatment response. Similarly, deficient executive functioning (EF) has been demonstrated in OCD, with research evidencing a connection between EF impairment and OCD course, symptom severity, and treatment response. Sleep difficulties are also implicated in impaired EF, as the primary brain region responsible for EF (i.e., the prefrontal cortex) seems to be particularly vulnerable to inadequate sleep. Given high dropout rates and residual symptoms following OCD treatment, a better understanding of these relations (OCD, EF, and sleep) might contribute to improved treatment success. The current study examined associations among these constructs, hypothesizing that sleep impairment would moderate the relationship between EF performance and OC symptom severity. A nonclinical sample of university undergraduates and community members (N = 91; Mage = 25.87; SD = 12.50; 86.8% White; 68.1% female) completed a series of online self-report measures and computerized cognitive performance tasks. Though, as expected, both sleep and depressive symptoms significantly predicted OC symptom severity, EF performance was not associated with other variables of interest at even the basic correlational level. Extant literature points to enumerable factors (e.g., clinical symptom levels, use of OC-relevant stimuli in EF tasks, comorbid disorders, medication effects, etc.) potentially contributing to the EF-OCD relationship, particularly where sleep is concerned. Perhaps, EF deficits emerge once symptoms have reached clinical severity, which only a small portion of the current sample endorsed. Limited symptom variance, remote data collection, and videoconferencing methodology also likely contributed to null findings. Future research should extend this study to an in-person, laboratory paradigm using clinical samples. As a relatively unstudied area with potential to better understand the experience and course of OCD, continued research is needed to investigate specific emotional and behavioral elements impacting the EF-OCD relationship with co-occurring sleep factors

Energy Cost of Active and Sedentary Music Video Games: Handheld Gaming vs. Walking and Sitting

International Journal of Exercise Science 10(7): 1038-1050, 2017. To compare energy expenditure during and after active and handheld video game drumming compared to walking and sitting. Ten experienced, college-aged men performed four protocols (one per week): no-exercise seated control (CTRL), virtual drumming on a handheld gaming device (HANDHELD), active drumming on drum pads (DRUM), and walking on a treadmill at ~30% of VO2max (WALK). Protocols were performed after an overnight fast, and expired air was collected continuously during (30min) and after (30min) exercise. DRUM and HANDHELD song lists, day of the week, and time of day were identical for each participant. Significant differences (p \u3c 0.05) among the average rates of energy expenditure (kcal.min-1) during activity included WALK \u3e DRUM \u3e HANDHELD. No significant differences in the rates of energy expenditure among groups during recovery were observed. Total energy expenditure was significantly greater (p \u3c 0.05) during WALK (149.5 ± 30.6 kcal) compared to DRUM (118.7 ± 18.8 kcal) and HANDHELD (44.9±11.6 kcal), and greater during DRUM compared to HANDHELD. Total energy expenditure was not significantly different between HANDHELD (44.9 ± 11.6 kcal) and CTRL (38.2 ± 6.0 kcal). Active video game drumming at expert-level significantly increased energy expenditure compared to handheld, but it hardly met moderate-intensity activity standards, and energy expenditure was greatest during walking. Energy expenditure with handheld video game drumming was not different from no-exercise control. Thus, traditional aerobic exercise remains at the forefront for achieving the minimum amount and intensity of physical activity for health, individuals desiring to use video games for achieving weekly physical activity recommendations should choose games that require significant involvement of lower-body musculature, and time spent playing sedentary games should be a limited part of an active lifestyle

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.Peer reviewe

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease with no effective treatment. We report the results of a moderate-scale sequencing study aimed at increasing the number of genes known to contribute to predisposition for ALS. We performed whole-exome sequencing of 2869 ALS patients and 6405 controls. Several known ALS genes were found to be associated, and TBK1 (the gene encoding TANK-binding kinase 1) was identified as an ALS gene. TBK1 is known to bind to and phosphorylate a number of proteins involved in innate immunity and autophagy, including optineurin (OPTN) and p62 (SQSTM1/sequestosome), both of which have also been implicated in ALS. These observations reveal a key role of the autophagic pathway in ALS and suggest specific targets for therapeutic interventio

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease with no effective treatment. We report the results of a moderate-scale sequencing study aimed at increasing the number of genes known to contribute to predisposition for ALS. We performed whole-exome sequencing of 2869 ALS patients and 6405 controls. Several known ALS genes were found to be associated, and TBK1 (the gene encoding TANK-binding kinase 1) was identified as an ALS gene. TBK1 is known to bind to and phosphorylate a number of proteins involved in innate immunity and autophagy, including optineurin (OPTN) and p62 (SQSTM1/sequestosome), both of which have also been implicated in ALS. These observations reveal a key role of the autophagic pathway in ALS and suggest specific targets for therapeutic intervention