scholarly journals Association of low-frequency and rare coding variants with information processing speed

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Jan Bressler ◽  
Gail Davies ◽  
Albert V. Smith ◽  
Yasaman Saba ◽  
Joshua C. Bis ◽  
...  

AbstractMeasures of information processing speed vary between individuals and decline with age. Studies of aging twins suggest heritability may be as high as 67%. The Illumina HumanExome Bead Chip genotyping array was used to examine the association of rare coding variants with performance on the Digit-Symbol Substitution Test (DSST) in community-dwelling adults participating in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. DSST scores were available for 30,576 individuals of European ancestry from nine cohorts and for 5758 individuals of African ancestry from four cohorts who were older than 45 years and free of dementia and clinical stroke. Linear regression models adjusted for age and gender were used for analysis of single genetic variants, and the T5, T1, and T01 burden tests that aggregate the number of rare alleles by gene were also applied. Secondary analyses included further adjustment for education. Meta-analyses to combine cohort-specific results were carried out separately for each ancestry group. Variants in RNF19A reached the threshold for statistical significance (p = 2.01 × 10−6) using the T01 test in individuals of European descent. RNF19A belongs to the class of E3 ubiquitin ligases that confer substrate specificity when proteins are ubiquitinated and targeted for degradation through the 26S proteasome. Variants in SLC22A7 and OR51A7 were suggestively associated with DSST scores after adjustment for education for African-American participants and in the European cohorts, respectively. Further functional characterization of its substrates will be required to confirm the role of RNF19A in cognitive function.

2014 ◽  
Vol 24 (1) ◽  
pp. 52-59 ◽  
Author(s):  
Hajime Iwasa ◽  
Ichiro Kai ◽  
Yuko Yoshida ◽  
Takao Suzuki ◽  
Hunkyung Kim ◽  
...  

2013 ◽  
Vol 19 (12) ◽  
pp. 1665-1672 ◽  
Author(s):  
Aurélie Ruet ◽  
Mathilde SA Deloire ◽  
Julie Charré-Morin ◽  
Delphine Hamel ◽  
Bruno Brochet

Background: Cognitive impairment in multiple sclerosis (MS) primarily applies to information processing speed (IPS). Objective: To evaluate psychometric properties of a new digit/symbol substitution test in healthy subjects and patients with MS, and assess its ability to detect IPS impairment in patients with MS. Methods: A sample of MS patients, 60 relapsing–remitting (RRMS) and 41 primary progressive MS (PPMS), and 415 healthy controls (HCs) underwent an IPS battery, including assessment of reaction times of subtests of the Test of Attentional Performance battery and a newly developed in-house digit/symbol substitution task, the Computerised Speed Cognitive Test (CSCT). The CSCT was additionally evaluated in a second cohort of 31 RRMS and 12 progressive MS patients, for comparison with the Symbol Digit Modalities Test (SDMT). Results: The CSCT had good reliability in both HCs and patients with MS. It showed a weak practice effect at the 6-month time point. This test had good ecological validity in MS patients. There was a strong correlation between the CSCT with the SDMT and with other IPS tests in patients with MS. The CSCT had the best sensitivity for predicting IPS impairment and was one of the most accurate tests among the IPS battery. Conclusion: The CSCT appeared as a good candidate for detecting IPS impairment in MS patients.


SLEEP ◽  
2020 ◽  
Author(s):  
Leslie M Swanson ◽  
Michelle M Hood ◽  
Martica H Hall ◽  
Howard M Kravitz ◽  
Karen A Matthews ◽  
...  

Abstract Study Objectives To determine whether actigraphy-assessed indices of sleep are associated with cognitive performance in women, and explore whether these associations vary by race/ethnicity. Methods Participants were 1,126 postmenopausal community-dwelling females (mean age 65 years) from the observational Study of Women’s Health Across the Nation (SWAN); 25% were black, 46% white, 13% Chinese, 11% Japanese, and 5% Hispanic. Actigraphy-assessed sleep measures included total sleep time, wake after sleep onset (WASO), and fragmentation. Cognitive measures included immediate and delayed verbal memory, working memory, and information processing speed. All measures were assessed in conjunction with SWAN annual visit 15. Results Across the sample, after covariate adjustment, greater WASO and fragmentation were concurrently associated with slower information processing speed. Black participants had significantly worse sleep relative to other race/ethnic groups. Significant race/sleep interactions were observed; in black, but not white, participants, greater fragmentation was concurrently associated with worse verbal memory and slower information processing speed, and greater WASO was concurrently associated with slower information processing speed. Sleep-cognitive performance associations were not different in Chinese and Japanese participants relative to white participants. Conclusions Greater wakefulness and fragmentation during sleep are concurrently associated with slower information processing. Sleep continuity impacted concurrent cognitive performance in black, but not white, women. This effect may not have been detected in white women because their sleep was largely within the normal range. Future longitudinal studies in diverse samples are critical to further understand whether race/ethnicity moderates the influence of sleep on cognitive performance.


2016 ◽  
Vol 12 ◽  
pp. P448-P448
Author(s):  
Jan Bressler ◽  
Gail Davies ◽  
Chloe Fawns-Ritchie ◽  
Albert V. Smith ◽  
Joshua C. Bis ◽  
...  

2021 ◽  
Vol 2021 ◽  
pp. 1-12
Author(s):  
Hossein Sanjari Moghaddam ◽  
Behrang Shadloo ◽  
Helen Shahkhah ◽  
Abbas Tafakhori ◽  
Maryam Haghshomar ◽  
...  

This cross-sectional study is aimed at assessing the effects of opium use disorder (OUD) on attention, working memory, and information-processing speed. Thirty outpatients with OUD and 20 healthy controls (HCs) were assessed using a neuropsychological battery consisted of Auditory Verbal Learning Test-Revised (AVLT-R), Brief Visuospatial Memory Test-Revised (BVMT-R), Digit Forward and Backward Tests (DFT and DBT), and WAIS-R Digit Symbol Substitution Test (DSST). The most affected cognitive functions in patients with OUD were detected by DBT and DSST. However, we found no significant difference between patients according to the route of administration. Within patients with OUD, DBT score was associated with opium use quantity (OUQ) ( r = − 0.385 ), and DBT ( r = 0.483 ) and DSST ( r = 0.542 ) scores were correlated with duration of use. Our findings indicated that working memory and information-processing speed are the most affected domains of cognitive functioning. DBT and DSST could be used as brief assessments in clinical settings to screen for cognitive deficits in patients with OUD.


2021 ◽  
pp. 1-13
Author(s):  
Elisabeth Maria van Zutphen ◽  
Judith Johanna Maria Rijnhart ◽  
Didericke Rhebergen ◽  
Majon Muller ◽  
Martijn Huisman ◽  
...  

Background: Sex differences in cognitive functioning in old age are known to exist yet are still poorly understood. Objective: This study examines to what extent differences in cardiovascular risk factors and cardiovascular disease between men and women explain sex differences in cognitive functioning. Methods: Data from 2,724 older adults from the Longitudinal Aging Study Amsterdam were used. Information processing speed and episodic memory, measured three times during six years of follow-up, served as outcomes. The mediating role of cardiovascular risk factors and cardiovascular disease was examined in single and multiple mediator models. Determinant-mediator effects were estimated using linear or logistic regression, and determinant-outcome and mediator-outcome effects were estimated using linear mixed models. Indirect effects were estimated using the product-of-coefficients estimator. Results: Women scored 1.58 points higher on information processing speed and 1.53 points higher on episodic memory. Several cardiovascular risk factors had small mediating effects. The sex difference in information processing speed was mediated by smoking, depressive symptoms, obesity, and systolic blood pressure. The sex difference in episodic memory was mediated by smoking, physical activity, and depressive symptoms. Effects of smoking, LDL cholesterol, and diabetes mellitus on information processing speed differed between men and women. Conclusion: Differences in cardiovascular risk factors between women and men partially explained why women had better cognitive functioning. A healthy cardiovascular lifestyle seems beneficial for cognition and sex-specific strategies may be important to preserve cognitive functioning at older age.


2021 ◽  
Vol 82 (1) ◽  
pp. 17-32 ◽  
Author(s):  
Stacy L. Andersen ◽  
Benjamin Sweigart ◽  
Nancy W. Glynn ◽  
Mary K. Wojczynski ◽  
Bharat Thyagarajan ◽  
...  

Background: Coupling digital technology with traditional neuropsychological test performance allows collection of high-precision metrics that can clarify and/or define underlying constructs related to brain and cognition. Objective: To identify graphomotor and information processing trajectories using a digitally administered version of the Digit Symbol Substitution Test (DSST). Methods: A subset of Long Life Family Study participants (n = 1,594) completed the DSST. Total time to draw each symbol was divided into ‘writing’ and non-writing or ‘thinking’ time. Bayesian clustering grouped participants by change in median time over intervals of eight consecutively drawn symbols across the 90 s test. Clusters were characterized based on sociodemographic characteristics, health and physical function data, APOE genotype, and neuropsychological test scores. Results: Clustering revealed four ‘thinking’ time trajectories, with two clusters showing significant changes within the test. Participants in these clusters obtained lower episodic memory scores but were similar in other health and functional characteristics. Clustering of ‘writing’ time also revealed four performance trajectories where one cluster of participants showed progressively slower writing time. These participants had weaker grip strength, slower gait speed, and greater perceived physical fatigability, but no differences in cognitive test scores. Conclusion: Digital data identified previously unrecognized patterns of ‘writing’ and ‘thinking’ time that cannot be detected without digital technology. These patterns of performance were differentially associated with measures of cognitive and physical function and may constitute specific neurocognitive biomarkers signaling the presence of subtle to mild dysfunction. Such information could inform the selection and timing of in-depth neuropsychological assessments and help target interventions.


1983 ◽  
Vol 6 (1) ◽  
pp. 37-50 ◽  
Author(s):  
Marie-Germaine Pecheux ◽  
Roger Lécuyer

If rate of habituation reflects information processing speed and is a stable individual characteristic, fast habituators should habituate relatively quickly to any stimulus, and slow habituators relatively slowly. Moreover, rate of habituation should be related to the baby's tendency to explore in any common situation. To examine these inferences, 24 four-month-old infants were habituated to four stimuli (two geometric patterns and two faces) successively, in two sessions, and observed in a free-exploration situation. The number of trials required to reach criterion in the habituation situations were not correlated, but total looking times to criterion were. Also, slow habituators stayed in the exploration situation for a relatively longer time and also explored a new toy for a longer time. Methodological aspects of habituation are discussed, and an interpretation of habituation sequences in terms of cognitive style is suggested.


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