scholarly journals Internet Cognitive Testing of Large Samples Needed in Genetic Research

2007 ◽  
Vol 10 (4) ◽  
pp. 554-563 ◽  
Author(s):  
Claire M. A. Haworth ◽  
Nicole Harlaar ◽  
Yulia Kovas ◽  
Oliver S. P. Davis ◽  
Bonamy R. Oliver ◽  
...  

AbstractQuantitative and molecular genetic research requires large samples to provide adequate statistical power, but it is expensive to test large samples in person, especially when the participants are widely distributed geographically. Increasing access to inexpensive and fast Internet connections makes it possible to test large samples efficiently and economically online. Reliability and validity of Internet testing for cognitive ability have not been previously reported; these issues are especially pertinent for testing children. We developed Internet versions of reading, language, mathematics and general cognitive ability tests and investigated their reliability and validity for 10- and 12-year-old children. We tested online more than 2500 pairs of 10-year-old twins and compared their scores to similar internet-based measures administered online to a subsample of the children when they were 12 years old (> 759 pairs). Within 3 months of the online testing at 12 years, we administered standard paper and pencil versions of the reading and mathematics tests in person to 30 children (15 pairs of twins). Scores on Internet-based measures at 10 and 12 years correlated .63 on average across the two years, suggesting substantial stability and high reliability. Correlations of about .80 between Internet measures and in-person testing suggest excellent validity. In addition, the comparison of the internet-based measures to ratings from teachers based on criteria from the UK National Curriculum suggests good concurrent validity for these tests. We conclude that Internet testing can be reliable and valid for collecting cognitive test data on large samples even for children as young as 10 years.

2018 ◽  
Author(s):  
Monika Waszczuk

Genetic discovery in psychiatry and clinical psychology is hindered by suboptimal phenotypic definitions. We argue that the hierarchical, dimensional, and data-driven classification system proposed by the Hierarchical Taxonomy of Psychopathology (HiTOP) consortium provides a more effective approach to identifying genes that underlie mental disorders, and to studying psychiatric etiology, than current diagnostic categories. Specifically, genes are expected to operate at different levels of the HiTOP hierarchy, with some highly pleiotropic genes influencing higher-order psychopathology (e.g. the general factor), whereas other genes conferring more specific risk for individual spectra (e.g. internalizing), subfactors (e.g. fear disorders), or narrow symptoms (e.g. mood instability). We propose that the HiTOP model aligns well with the current understanding of the higher-order genetic structure of psychopathology that has emerged from a large body of family and twin studies. We also discuss the convergence between the HiTOP model and findings from recent molecular studies of psychopathology indicating broad genetic pleiotropy, such as cross-disorder SNP-based shared genetic covariance and polygenic risk scores, and we highlight molecular genetic studies that have successfully redefined phenotypes to enhance precision and statistical power. Finally, we suggest how to integrate a HiTOP approach into future molecular genetic research, including quantitative and hierarchical assessment tools for future data-collection and recommendations concerning phenotypic analyses.


2020 ◽  
Vol 10 (5) ◽  
pp. 1579
Author(s):  
Seung Il Song ◽  
Hyun Seok Jeong ◽  
Jung Pil Park ◽  
Ji Yean Kim ◽  
Dai Seg Bai ◽  
...  

Computer-based neuropsychological assessments have many advantages over traditional neuropsychological assessments. However, limited data are available on the validity and reliability of computer-based assessments. The purpose of this study was to examine the reliability and validity of computer-based dementia assessment contents (Co-Wis). This study recruited 113 participants from Yeungnam University Medical Center in Daegu from June 2019 to December 2019 and received ethical approval. Participants were evaluated using standard and objective dementia cognitive test tools such as the Korean version of the Mini-Mental State Examination (K-MMSE), the Clinical Dementia Rating Scale (CDR), and the Standardized Seoul Neuropsychological Screening Battery-II (SNSB-II). To verify the effectiveness of Co-Wis, the concurrent validity, test–retest reliability (Pearson’s correlation coefficients), construct validity (Factor analysis), and signal detection analysis (ROC curve) were used. In most of the Co-Wis subtests, the concurrent validity and test–retest reliability showed statistically significant correlations (p < 0.05, p < 0.01). The factor analysis showed that Co-Wis assessed the most major cognitive areas (Tucker–Lewis Index (TLI) = 0.876, Comparative Fit Index (CFI) = 0.897, RMSEA = 0.88). Thus, Co-Wis appears clinically applicable and with high reliability and validity. In the future, we should develop tests to evaluate both standard data and big data-based machine learning.


Author(s):  
Valentyn Pomohaibo ◽  
Natalia Karapuzova ◽  
Yuliia Pavlenko

The article provides an overview of the results of modern genetic studies of human cognitive abilities. Finding genetic factors, associated with cognitive abilities, will have far-reaching ramifications at all levels of understanding from DNA to brain and to behavior. Despite its complexity, cognitive ability is a reasonable candidate for molecular genetic research because it is one of the most heritable features of behavior. The first attempts to find genetic factors, associated with cognitive abilities, focused on genes, involved in brain development and function, but this direction proved to be unproductive, as it turned out that there are about 18.000 genes, and it was too difficult to detect among them those genes that are involved in cognitive processes. In addition, a considerable number of genetic factors of human traits are single-nucleotide polymorphisms (SNPs) which are in non-coding DNA regions rather than in traditional genes. The effect of each separate SNP is unimportant, and a clear expression of the general cognitive ability is noticeable only if all the associated SNPs are involved. Currently, over 11,000 such SNPs have been identified, which are uneven in different functional regions of the genome: over 60 % in gene introns, almost 30 % in intergenic DNA regions, about 5 % in gene exons, and about 5 % in transcribed regions (downstream, upstream) and frame regions (UTR'5, UTR'3) of genes. Also there are found 74 SNPs, associated with school achievements. These SNPs are disproportionately located in genes that regulate transcription and alternative splicing of other genes, which are expressed in nerve tissues of the brain during its prenatal development. Finding genetic factors that explain the inheritance of cognitive abilities is important for both science and society. Information about these factors can be used in other fields of human science – human genetics and medicine. It will open up new scientific horizons for education too owing to understanding of the genetic aspects of learning and memory


2018 ◽  
Author(s):  
Jaime Derringer

Although correlations between personality and health are consistently observed, often the causal pathway, or even the direction of effect, is unknown. Genes provide an additional node of information which may be included to help clarify the relationship between personality and health. Genetically informative studies, whether focused on family-identified relationships or specific genotypes, provide clear benefits to disentangling causal processes. Genetic measures approach near universal reliability and validity: processes of inheritance are consistent across cultures, geography, and time, such that similar models and instruments may be applied to incredibly diverse populations. Although frequency and intercorrelations differ by ancestry background (Novembre et al., 2008) and cultural context (Tucker-Drob &amp; Bates, 2016) may exert powerful moderating effects, fundamental form and function is consistent across all members of our species, and even many other species. Genetic sequence information is also of course highly temporally stable, and possesses temporal precedence. That is, the literal genetic sequence is lifetime-stable and comes before all other experiences. Human behavior genetic research, like most personality research, faces limitations in terms of causal inferences that may be made in the absence of experimental manipulation. But behavior genetics takes advantage of natural experiments: populations that differ in terms of genetic similarity (either inferred – such as twins – or measured – such as genotyping methods) to begin to unravel the complex influences on individual differences in personality and health outcomes.


2019 ◽  
Author(s):  
Katrina d'Apice ◽  
Sophie von Stumm

We explored if children’s age moderated associations between their early life language experiences and their linguistic and cognitive skills. For 107 British children, aged 24 to 48 months, and their families, we collected 3 day-long audio-recordings of their naturalistic home environments (M = 15.06 hours per day, SD = 1.87). Children’s cognitive ability was assessed by parent-ratings and with a cognitive testing booklet that children completed at home. We found that the quantity, lexical diversity and vocabulary sophistication of adult speech were associated with children’s linguistic and cognitive skills. However, these associations were not moderated by children’s age. Our findings suggest that the influence of early life language experience is not differentiated at age 24 to 48 months.


2019 ◽  
Vol 24 (3) ◽  
pp. 243-250
Author(s):  
Estiningsih ◽  
Sundari

Community empowerment is a form of development which directly involves the community. In community empowerment program, the position of the community is as program consumer but as program producer instead. Community empowerment aims to achieve community independence and welfare. Zakat is a subsystem which can support community empowerment program. It’s consistent with the objective of zakat, which is material and spiritual wellbeing. To encourage the success of the program, there should be support from various parties, including companion and social capital supports.The purpose of the present study was determining the direct effects of companion and social capital on participant of zakat recipient and its impact of economic performance of zakat-receiving micro businessman. The present study used primary data by involving 72 zakat-receiving micro businesspeople (mustahik businesspeople) in Wonosari Sub-district, Gunung Kidul Regency, Special Region of Yogyakarta. The research instrument was questionnaire with likert-5 scale which has high reliability and validity based on Cronbah Alpha and Kaiser-Meyer-Olkin values. The empirical model was analyzed using Structural Equation Modeling (SEM).The result of hypothesis test shows that companion and social capital affected the participation of zakat recipient, and the participation of zakat recipient affected the economic performance of zakat-receiving micro businessman.


Author(s):  
Gregory Fedorchak ◽  
Aakanksha Rangnekar ◽  
Cayce Onks ◽  
Andrea C. Loeffert ◽  
Jayson Loeffert ◽  
...  

Abstract Objective The goals of this study were to assess the ability of salivary non-coding RNA (ncRNA) levels to predict post-concussion symptoms lasting ≥ 21 days, and to examine the ability of ncRNAs to identify recovery compared to cognition and balance. Methods RNA sequencing was performed on 505 saliva samples obtained longitudinally from 112 individuals (8–24-years-old) with mild traumatic brain injury (mTBI). Initial samples were obtained ≤ 14 days post-injury, and follow-up samples were obtained ≥ 21 days post-injury. Computerized balance and cognitive test performance were assessed at initial and follow-up time-points. Machine learning was used to define: (1) a model employing initial ncRNA levels to predict persistent post-concussion symptoms (PPCS) ≥ 21 days post-injury; and (2) a model employing follow-up ncRNA levels to identify symptom recovery. Performance of the models was compared against a validated clinical prediction rule, and balance/cognitive test performance, respectively. Results An algorithm using age and 16 ncRNAs predicted PPCS with greater accuracy than the validated clinical tool and demonstrated additive combined utility (area under the curve (AUC) 0.86; 95% CI 0.84–0.88). Initial balance and cognitive test performance did not differ between PPCS and non-PPCS groups (p > 0.05). Follow-up balance and cognitive test performance identified symptom recovery with similar accuracy to a model using 11 ncRNAs and age. A combined model (ncRNAs, balance, cognition) most accurately identified recovery (AUC 0.86; 95% CI 0.83–0.89). Conclusions ncRNA biomarkers show promise for tracking recovery from mTBI, and for predicting who will have prolonged symptoms. They could provide accurate expectations for recovery, stratify need for intervention, and guide safe return-to-activities.


Author(s):  
Shu-Ling Wu ◽  
Yee Pin Tio ◽  
Lourdes Ortega

Abstract Elicited imitation (EI), a short-cut measure of global proficiency in second language (L2) research, requires participants to listen to sentences and repeat them as closely as possible. To support instrument sharing and assessment of L2 proficiency for longitudinal and crosslinguistic research, we created a parallel form of an EI task (EIT) for L2 English originally developed by the third author and colleagues and investigated the reliability and validity of the original and new forms. Eighty-two participants completed the two EITs, an oral narrative task, and a self-diagnostic survey. Both forms exhibited high reliability and good alignment with external criterion measures. Both distinguished well among four proficiency levels in the sample. Further, participants’ perception of EI difficulty aligned well with their EI scores. We suggest some improvements to boost forms equivalence and discuss new insights about the nature of EI as reconstructive, integrative, modality independent, and with indirect links to communicative abilities. Our study seeks to make this English EIT instrument widely useful to the L2 research community.


Animals ◽  
2021 ◽  
Vol 11 (5) ◽  
pp. 1429
Author(s):  
Yang Teng ◽  
Jing Yang ◽  
Guofen Zhu ◽  
Fuli Gao ◽  
Yingying Han ◽  
...  

Detailed molecular genetic research on amphibian populations has a significant role in understanding the genetic adaptability to local environments. The oriental fire-bellied toads (Bombina orientalis) were artificially introduced to Beijing from Shandong Province in 1927, and since then, this separated population went through an independent evolution. To explore the differentiation of the introduced population with its original population, this study analyzed the genetic structure of the oriental fire-bellied toad, based on the mitochondrial genome control region and six microsatellite sites. The results showed that the haplotype diversity and nucleotide diversity of the mitochondrial D-loop region partial sequences of the Beijing Botanical Garden population and the Baiwangshan population were lower than those of the Shangdong Kunyushan population. Microsatellite marker analysis also showed that the observed heterozygosity and expected heterozygosity of the Beijing populations were lower than those of the Kunyushan population. The phylogenetic trees and network diagrams of haplotypes indicated that the three populations were not genetically separated. However, the structure analysis showed a genetic differentiation and categorized the sampling individuals into Beijing and Shandong genetic clusters, which indicated a tendency for isolated evolution in the Beijing population. Although the Beijing populations showed a decline in genetic diversity, it was still at a moderate level, which could maintain the survival of the population. Thus, there is no need to reintroduce new individuals from the Kunyushan source population.


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