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Background: Radiologically isolated syndrome (RIS) patients might have psychiatric and cognitive deficits, which suggests an involvement of major resting-state functional networks. Notwithstanding, very little is known about the neural networks involved in RIS. Objective: To examine functional connectivity differences between RIS and healthy controls using resting-state functional magnetic resonance imaging (fMRI). Methods: Resting-state fMRI data in 25 RIS patients and 28 healthy controls were analyzed using an independent component analysis; in addition, seed-based correlation analysis was used to obtain more information about specific differences in the functional connectivity of resting-state networks. Participants also underwent neuropsychological testing. Results: RIS patients did not differ from the healthy controls regarding age, sex, and years of education. However, in memory (verbal and visuospatial) and executive functions, RIS patients’ cognitive performance was significantly worse than the healthy controls. In addition, fluid intelligence was also affected. Twelve out of 25 (48%) RIS patients failed at least one cognitive test, and six (24.0%) had cognitive impairment. Compared to healthy controls, RIS patients showed higher functional connectivity between the default mode network and the right middle and superior frontal gyri and between the central executive network and the right thalamus ( pFDR < 0.05; corrected). In addition, the seed-based correlation analysis revealed that RIS patients presented higher functional connectivity between the posterior cingulate cortex, an important hub in neural networks, and the right precuneus. Conclusion: RIS patients had abnormal brain connectivity in major resting-state neural networks and worse performance in neurocognitive tests. This entity should be considered not an “incidental finding” but an exclusively non-motor (neurocognitive) variant of multiple sclerosis., National Institutes of Health (EEUU), European Commission, Ministerio de Economía y Competitividad (España), Ministerio de Ciencia e Innovación (España), Depto. de Psicobiología y Metodología en Ciencias del Comportamiento, Depto. de Psicología Experimental, Procesos Cognitivos y Logopedia, Depto. de Medicina, Fac. de Psicología, Fac. de Medicina, TRUE, pub

Objective Recent evidence suggests that patients suffering post-acute COVID syndrome frequently report cognitive complaints, but their characteristics and pathophysiology are unknown. This study aims to determine the characteristics of cognitive dysfunction in patients reporting cognitive complaints after COVID-19 and to evaluate the correlation between cognitive function and anxiety, depression, sleep, and olfactory function. Methods Cross-sectional study involving 50 patients with COVID-19 reporting cognitive complaints 9.12 ± 3.46 months after the acute infection. Patients were evaluated with a comprehensive neuropsychological protocol, and scales of fatigue, depression, anxiety, sleep and an olfactory test. Normative data and an age- and education matched healthy control group were used for comparison. Results COVID-19 patients showed a diminished performance on several tests evaluating attention and executive function, with alterations in processing speed, divided attention, selective attention, visual vigilance, intrinsic alertness, working memory, and inhibition; episodic memory; and visuospatial processing. Cognitive performance was correlated with olfactory dysfunction, and sleep quality and anxiety to a lesser extent, but not depression. Conclusions Patients with COVID-19 reporting cognitive symptoms showed a reduced cognitive performance, especially in the attention-concentration and executive functioning, episodic memory, and visuospatial processing domains. Future studies are necessary to disentangle the specific mechanisms associated with COVID-19 cognitive dysfunction., Depto. de Psicobiología y Metodología en Ciencias del Comportamiento, Fac. de Psicología, TRUE, pub

Background: Fatigue is one of the most common symptoms in neurology, especially in MS patients with a prevalence of 65%. It is described as the most disabling symptom by 40% of MS patients. This study aimed to validate the Functional Assessment of Chronic Illness Therapy fatigue version (FACIT-F) and the F-2-MS scale, a new tool to distinguish between fatigue and fatigability. Methods: One hundred and fifteen patients with relapsing-remitting MS were enrolled. All patients completed a comprehensive neuropsychological battery, previously validated in MS. Fatigue was evaluated using the Fatigue Severity Scale (FSS), the Modified version of the Fatigue Impact Scale (MFIS), the Functional Assessment of Chronic Illness Therapy measure system (fatigue version) (FCIT-F), and a new tool for the assessment of fatigue and fatigability: the F-2-MS scale. Internal consistency was estimated with Cronbach’s Alpha. For intergroup comparisons, Student’s t-test and Pearson’s chi-squared test were used. Pearson’s correlation test was calculated for quantitative variables. Cohen’s d was calculated to evaluate the effect size. Binary logistic regression was performed, considering the presence of fatigue as a criterion variable, and the FACIT-F and F-2-MS scores were added as predictor variables. ROC curves were also estimated. We conducted a confirmatory factor analysis for the F-2-MS scale, considering two latent factors. Results: FACIT-F and F-2-MS showed high internal consistency. Both scales were highly correlated with MFIS and FSS, and showed a low correlation with Symbol Digit Modalities Test. There were significant differences between fatigued and non-fatigued patients on FACIT-F and F-2-MS scores with large effect sizes. Both scales showed AUC > 0.90 and achieved a correct classification >87%. Confirmatory factor analysis showed moderate evidence of two dimensions on the F-2-MS scale. Conclusions: The FACIT-F and F-2-MS scales showed appropriated psychometric properties to be u, Instituto de Salud Carlos III, European Commission, Depto. de Psicobiología y Metodología en Ciencias del Comportamiento, Depto. de Medicina, Fac. de Psicología, Fac. de Medicina, TRUE, pub

La esclerosis múltiple (EM) es una enfermedad compleja y heterogénea que se caracteriza por la influencia de diferentes factores, como son genéticos, ambientales y epigenéticos. Gracias a los estudios realizados hasta la fecha se han identificado variantes genéticas y genes que están involucrados con el riesgo de desarrollar EM. Los estudios que han permitido conocer gran parte de la información genética conocida son los estudios de asociación del genoma completo (GWAS). La gran parte de las variantes de riesgo identificadas se encuentran en genes que pertenecen a vías de señalización relacionadas con la inmunidad. En concreto, muchos de las variantes y genes de interés pertenecen a vías de señalización relacionadas con la inmunidad innata. A pesar del éxito de los GWAS, estos estudios presentan diferentes sesgos que solo han permitido conocer una parte del componente genético de la enfermedad. La secuenciación completa de exoma (WES) es una técnica que permite profundizar en el conocimiento del componente genético de la EM mediante la secuenciación de la región codificante de todo el genoma..., Multiple sclerosis (MS) is a complex and heterogeneous disease, characterized by genetics, environmental and epigenetics factors. Several genes and genetic variants involved with the risk of developing MS have been identified. The majority of this known information has been detected by genome-wide association studies (GWAS). Many of the identified variants are located in genes implicated in pathways related to innate immunity. Despite the success of GWAS, these studies have only revealed part of the genetic component of MS due to different biases involved in these studies. Whole-exome sequencing (WES) is a technique which sequences the coding region of the entire genome allowing us to improve our knowledge of genetic basis of MS...

Background: Pause duration analysis is a common feature in the study of discourse in Alzheimer’s disease (AD) since this patient group has shown a consistent trend for longer pauses in comparison to healthy controls. This speech feature may also be helpful for early detection; however, studies involving patients at the pre-clinical, high-risk phase of amnestic mild cognitive impairment (aMCI) have yielded varying results. Objective: To characterize the probability density distribution of speech pause durations in 26 patients with AD, 57 amnestic multi-domain amnestic MCI patients (29 with memory encoding deficits, a-mdMCI-E, and 28 with retrieval impairment only, a-mdMCI-R) and 29 healthy controls (HC) in order assess whether there are significant differences between them. To explore the potential differences in pause production between patients with a-mdMCI-E and a-mdMCI-R, as the former are considered to be at higher risk of progressing to dementia. Methods: The 112 picture-based oral narratives obtained were manually transcribed and annotated for the automatic extraction and analysis of pause durations. Different probability distributions were tested for the fitting of pause durations while truncating shorter ranges. Recent findings in the field of Statistics were considered in order to avoid the inherent methodological uncertainty that this type of analysis entails by addressing the question of temporal thresholding and its potential repercussions on inter-annotator reliability in manual transcriptions. Results: A lognormal distribution (LND) explained the distribution of pause duration for all groups. Its fitted parameters (, ) followed a gradation from the group with shorter durations and a higher tendency to produce short pauses (HC) to the group with longer pause durations and a considerably higher tendency to produce long pauses with greater variance (AD). Importantly, a-mdMCI-E produced significantly longer pauses and with greater variability than their a, This work is supported through a PhD grant awarded to P.P-D. by the banking Foundation ‘‘La Caixa’’ (ID 100010434, code: LCF/BQ/ES15/10360020). F.D-V. was supported by a grant awarded to project no. PID2019-107042GB-I00 (Ministerio de Ciencia e Innovación). A.H-F. and I.G.T. were supported by the grant no. TIN2017- 89244-R (MACDA) (Ministerio de Economia, Industria y Competitivi- dad, Gobierno de España) and the project PRO2020-S03 (RCO03080 Lingüística Quantitativa) of l’Institut d’Estudis Catalans., Peer Reviewed, Objectius de Desenvolupament Sostenible::3 - Salut i Benestar, Postprint (published version)