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Brain Sci., Volume 11, Issue 7 (July 2021) – 135 articles

Cover Story (view full-size image): Navigated transcranial magnetic stimulation (nTMS) has developed into a reliable non-invasive clinical and scientific tool over the past decade, being particularly used for motor mapping in patients with brain tumors. In this article, we review the evidence for the feasibility of motor mapping and derived models (risk stratification and prediction, nTMS-based fiber tracking, improvement of clinical outcome, and assessment of functional plasticity) and provide collected sets of evidence for the applicability of quantitative mapping with nTMS. In addition, we provide evidence-based demonstrations on factors that ensure methodological feasibility and accuracy of the motor mapping procedure. View this paper
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19 pages, 3786 KiB  
Article
Effects of Neurofeedback on the Working Memory of Children with Learning Disorders—An EEG Power-Spectrum Analysis
by Benito J. Martínez-Briones, Jorge Bosch-Bayard, Rolando J. Biscay-Lirio, Juan Silva-Pereyra, Lucero Albarrán-Cárdenas and Thalía Fernández
Brain Sci. 2021, 11(7), 957; https://doi.org/10.3390/brainsci11070957 - 20 Jul 2021
Cited by 9 | Viewed by 4090
Abstract
Learning disorders (LDs) are diagnosed in children impaired in the academic skills of reading, writing and/or mathematics. Children with LDs usually exhibit a slower resting-state electroencephalogram (EEG), corresponding to a neurodevelopmental lag. Frequently, children with LDs show working memory (WM) impairment, associated with [...] Read more.
Learning disorders (LDs) are diagnosed in children impaired in the academic skills of reading, writing and/or mathematics. Children with LDs usually exhibit a slower resting-state electroencephalogram (EEG), corresponding to a neurodevelopmental lag. Frequently, children with LDs show working memory (WM) impairment, associated with an abnormal task-related EEG with overall slower EEG activity (more delta and theta power, and less gamma activity in posterior sites). These EEG patterns indicate inefficient neural resource management. Neurofeedback (NFB) treatments aimed at normalizing the resting-state EEG of LD children have shown improvements in cognitive-behavioral indices and diminished EEG abnormalities. Given the typical findings of WM impairment in children with LDs, we aimed to explore the effects of an NFB treatment on the WM of children with LDs by analyzing the WM-related EEG power spectrum. EEGs of 18 children (8–11 y.o.) with LDs were recorded, pre- and post-treatment, during performance of a Sternberg-type WM task. Thirty sessions of an NFB treatment (NFB-group, n = 10) or 30 sessions of a placebo-sham treatment (sham-group, n = 8) were administered. We analyzed the before and after treatment group differences for the behavioral performance and the WM-related EEG power spectrum. The NFB group showed faster response times in the WM task post-treatment. They also exhibited a decreased theta power and increased beta and gamma power at the frontal and posterior sites post-treatment. We explain these findings in terms of NFB improving the efficiency of neural resource management, maintenance of memory representations, and improved subvocal memory rehearsal. Full article
(This article belongs to the Section Behavioral Neuroscience)
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12 pages, 4559 KiB  
Article
Endogenous Expression of G-CSF in Rat Dorsal Root Ganglion Neurons after Nerve Injury
by Chun-Chang Yeh, Chih-Ping Yang, Kuo-Hsing Ma, Jui-Hu Shih, Ching-San Tseng and Yuahn-Sieh Huang
Brain Sci. 2021, 11(7), 956; https://doi.org/10.3390/brainsci11070956 - 20 Jul 2021
Viewed by 2141
Abstract
Granulocyte colony-stimulating factor (G-CSF) has been reported to modulate pain function following nerve injury. However, the expression of endogenous G-CSF in the dorsal root ganglion (DRG) and the response to nerve injury remain unclear. In the present study, we demonstrated that G-CSF and [...] Read more.
Granulocyte colony-stimulating factor (G-CSF) has been reported to modulate pain function following nerve injury. However, the expression of endogenous G-CSF in the dorsal root ganglion (DRG) and the response to nerve injury remain unclear. In the present study, we demonstrated that G-CSF and G-CSFR are mainly expressed in both small- and medium-diameter DRG neurons in rats and are responsible for transmitting pain responses. G-CSF and G-CSFR were co-expressed in certain nociceptive DRG neurons. In addition, G-CSF was expressed in satellite glial cells around large-diameter DRG neurons. After sciatic nerve injury, the number of G-CSF-positive DRG neurons was increased in both the ipsilateral and contralateral lesion sites in rats. However, G-CSF expression in satellite glial cells was not affected by nerve injury. To clarify the role of G-CSF in pain, exogenous G-CSF was administered to a rat model of neuropathic pain induced by partial sciatic nerve transaction (PST). Our results indicate that treatment with G-CSF did not attenuate but exacerbated neuropathic pain. In summary, G-CSF may directly activate sensory neurons and contribute to nociceptive signaling. Full article
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14 pages, 403 KiB  
Article
Scent of a Woman—Or Man: Odors Influence Person Knowledge
by Nicole L. Hovis, Paul R. Sheehe and Theresa L. White
Brain Sci. 2021, 11(7), 955; https://doi.org/10.3390/brainsci11070955 - 20 Jul 2021
Cited by 1 | Viewed by 2953
Abstract
First impressions of social traits are regularly, rapidly, and readily determined from limited information about another individual. Relatively little is known about the way that olfactory information, particularly from scents that are not body odors, alters a first impression. Can the attributes of [...] Read more.
First impressions of social traits are regularly, rapidly, and readily determined from limited information about another individual. Relatively little is known about the way that olfactory information, particularly from scents that are not body odors, alters a first impression. Can the attributes of an odorant be conferred onto a person associated with that scent? To explore this, 101 participants were asked to form an impression of a hypothetical person based on the following stimuli: A gender-neutral silhouette, a list of six personal characteristics, and one of five odorants. Participants then rated the likelihood that the hypothetical person possessed each of 51 personality traits that were determined a priori as falling into six attribute categories. Participants also directly rated all odorants for the six categories and intensity. A T-test showed that ratings of the hypothetical person were less disparate from the odor that was presented during impression formation than from other odors. ANOVA revealed that the effects were heterogeneous, with odorants varying in their effectiveness in associating the hypothetical person with categories. The present data suggest that a hypothetical person can be imbued with the specific attributes of an odor and that some odors are better at contributing to impressions than others. Full article
(This article belongs to the Special Issue Advances in Human Olfactory Perception)
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12 pages, 980 KiB  
Review
Cofilin and Neurodegeneration: New Functions for an Old but Gold Protein
by Tamara Lapeña-Luzón, Laura R. Rodríguez, Vicent Beltran-Beltran, Noelia Benetó, Federico V. Pallardó and Pilar Gonzalez-Cabo
Brain Sci. 2021, 11(7), 954; https://doi.org/10.3390/brainsci11070954 - 20 Jul 2021
Cited by 6 | Viewed by 3277
Abstract
Cofilin is an actin-binding protein that plays a major role in the regulation of actin dynamics, an essential cellular process. This protein has emerged as a crucial molecule for functions of the nervous system including motility and guidance of the neuronal growth cone, [...] Read more.
Cofilin is an actin-binding protein that plays a major role in the regulation of actin dynamics, an essential cellular process. This protein has emerged as a crucial molecule for functions of the nervous system including motility and guidance of the neuronal growth cone, dendritic spine organization, axonal branching, and synaptic signalling. Recently, other important functions in cell biology such as apoptosis or the control of mitochondrial function have been attributed to cofilin. Moreover, novel mechanisms of cofilin function regulation have also been described. The activity of cofilin is controlled by complex regulatory mechanisms, with phosphorylation being the most important, since the addition of a phosphate group to cofilin renders it inactive. Due to its participation in a wide variety of key processes in the cell, cofilin has been related to a great variety of pathologies, among which neurodegenerative diseases have attracted great interest. In this review, we summarized the functions of cofilin and its regulation, emphasizing how defects in these processes have been related to different neurodegenerative diseases. Full article
(This article belongs to the Section Molecular and Cellular Neuroscience)
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15 pages, 327 KiB  
Article
Quality of Life and Psychological Distress in Portuguese Older Individuals with Tinnitus
by Haúla F. Haider, Sara F. Ribeiro, Derek J. Hoare, Graça Fialho, Deborah A. Hall, Marília Antunes, Helena Caria and João Paço
Brain Sci. 2021, 11(7), 953; https://doi.org/10.3390/brainsci11070953 - 20 Jul 2021
Cited by 5 | Viewed by 2329
Abstract
Tinnitus is the perception of a sound without an external source, often associated with adverse psychological and emotional effects leading to impaired quality of life (QoL). The present study investigated QoL and psychological distress in tinnitus patients and analysed the effects of associated [...] Read more.
Tinnitus is the perception of a sound without an external source, often associated with adverse psychological and emotional effects leading to impaired quality of life (QoL). The present study investigated QoL and psychological distress in tinnitus patients and analysed the effects of associated comorbidities. Tonal and speech audiometry, tinnitus assessment, and clinical interviews were obtained from 122 Portuguese individuals (aged from 55 to 75). Portuguese versions of the Brief Symptoms Inventory (BSI), the Medical Outcomes Study Short Form Health Survey (MOS SF-36) and Tinnitus Handicap Inventory (THI) were used to evaluate psychological distress, health-related QoL, social difficulties and tinnitus severity. The presence of tinnitus was significantly associated with hearing loss. The increases in tinnitus severity were associated with decreases in QoL, particularly regarding MOS SF-36 subscales “perception of health”, “social functioning”, and “mental health”. Regarding BSI, patients with greater tinnitus severity had more severe psychopathology symptoms, measured with scales “Obsessive–compulsive”, “Depression”, “Anxiety”, “Hostility” and “Phobic Anxiety”. Our study supports the notion of the negative impact of increased tinnitus severity on QoL and psychological distress in older adults. Presented data strengthen the importance of a multidisciplinary approach to tinnitus assessment and treatment. Full article
(This article belongs to the Special Issue Tinnitus Subtyping)
18 pages, 444 KiB  
Systematic Review
Ageing and Olfactory Dysfunction in Trisomy 21: A Systematic Review
by Hanani Abdul Manan and Noorazrul Yahya
Brain Sci. 2021, 11(7), 952; https://doi.org/10.3390/brainsci11070952 - 20 Jul 2021
Cited by 5 | Viewed by 2084
Abstract
Purpose: The olfactory system is particularly vulnerable in an ageing brain, both anatomically and functionally, and these brain changes are more pronounced among individuals with trisomy 21. Furthermore, the age of the system starts to deteriorate, and the mechanism involved is unclear in [...] Read more.
Purpose: The olfactory system is particularly vulnerable in an ageing brain, both anatomically and functionally, and these brain changes are more pronounced among individuals with trisomy 21. Furthermore, the age of the system starts to deteriorate, and the mechanism involved is unclear in an individual with trisomy 21. Therefore, the present review aims to summarise the available information related to this topic and to suggest questions still unanswered which can be a subject of further research. Methods: A systematic literature search of trisomy 21 and olfactory dysfunction was conducted using PubMed/MEDLINE and Scopus electronic database following PRISMA guidelines. References and citations were checked in the Google Scholar database. Reports were extracted for information on demographics and psychophysical evaluation. Then, the reports were systematically reviewed based on the effects of ageing on the three olfactory domains: threshold, discrimination, and identification. Results: Participants with trisomy 21 show an early onset of olfactory impairment, and the age effect of the olfactory deficit is fully expressed at age > 30 years old. The three olfactory domains, threshold, discrimination, and identification, are suggested to be impaired in trisomy 21 participants with age > 30 years old. Conclusions: Olfactory dysfunction in an individual with trisomy 21 commences at a relatively young age and affects the three olfactory domains. A challenge for the future is to quantitatively establish the olfactory function of an individual with trisomy 21 at all ages with more detailed measurements to further understand the pathophysiology of this brain deterioration. Full article
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16 pages, 2642 KiB  
Article
Episodic Memory Encoding and Retrieval in Face-Name Paired Paradigm: An fNIRS Study
by Qian Yu, Boris Cheval, Benjamin Becker, Fabian Herold, Chetwyn C. H. Chan, Yvonne N. Delevoye-Turrell, Ségolène M. R. Guérin, Paul Loprinzi, Notger Mueller and Liye Zou
Brain Sci. 2021, 11(7), 951; https://doi.org/10.3390/brainsci11070951 - 19 Jul 2021
Cited by 5 | Viewed by 3207
Abstract
Background: Episodic memory (EM) is particularly sensitive to pathological conditions and aging. In a neurocognitive context, the paired-associate learning (PAL) paradigm, which requires participants to learn and recall associations between stimuli, has been used to measure EM. The present study aimed to explore [...] Read more.
Background: Episodic memory (EM) is particularly sensitive to pathological conditions and aging. In a neurocognitive context, the paired-associate learning (PAL) paradigm, which requires participants to learn and recall associations between stimuli, has been used to measure EM. The present study aimed to explore whether functional near-infrared spectroscopy (fNIRS) can be employed to determine cortical activity underlying encoding and retrieval. Moreover, we examined whether and how different aspects of task (i.e., novelty, difficulty) affects those cortical activities. Methods: Twenty-two male college students (age: M = 20.55, SD = 1.62) underwent a face-name PAL paradigm under 40-channel fNIRS covering fronto-parietal and middle occipital regions. Results: A decreased activity during encoding in a broad network encompassing the bilateral frontal cortex (Brodmann areas 9, 11, 45, and 46) was observed during the encoding, while an increased activity in the left orbitofrontal cortex (Brodmann area 11) was observed during the retrieval. Increased HbO concentration in the superior parietal cortices and decreased HbO concentration in the inferior parietal cortices were observed during encoding while dominant activation of left PFC was found during retrieval only. Higher task difficulty was associated with greater neural activity in the bilateral prefrontal cortex and higher task novelty was associated with greater activation in occipital regions. Conclusion: Combining the PAL paradigm with fNIRS provided the means to differentiate neural activity characterising encoding and retrieval. Therefore, the fNIRS may have the potential to complete EM assessments in clinical settings. Full article
(This article belongs to the Section Social Cognitive and Affective Neuroscience)
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18 pages, 721 KiB  
Article
Substance Use Outcomes from Two Formats of a Cognitive-Behavioral Intervention for Aggressive Children: Moderating Roles of Inhibitory Control and Intervention Engagement
by John E. Lochman, Caroline L. Boxmeyer, Chuong Bui, Estephan Hakim, Shannon Jones, Francesca Kassing, Kristina McDonald, Nicole Powell, Lixin Qu and Thomas Dishion
Brain Sci. 2021, 11(7), 950; https://doi.org/10.3390/brainsci11070950 - 19 Jul 2021
Cited by 6 | Viewed by 2044
Abstract
Although cognitive-behavioral interventions have reduced the risk of substance use, little is known about moderating factors in children with disruptive behaviors. This study examined whether aggressive preadolescents’ inhibitory control and intervention engagement moderates the effect of group versus individual delivery on their substance [...] Read more.
Although cognitive-behavioral interventions have reduced the risk of substance use, little is known about moderating factors in children with disruptive behaviors. This study examined whether aggressive preadolescents’ inhibitory control and intervention engagement moderates the effect of group versus individual delivery on their substance use. Following screening for aggression in 4th grade, 360 children were randomly assigned to receive the Coping Power intervention in either group or individual formats. The sample was primarily African American (78%) and male (65%). Assessments were made of children’s self-reported substance use from preintervention through a six-year follow-up after intervention, parent-reported inhibitory control at preintervention, and observed behavioral engagement in the group intervention. Multilevel growth modeling found lower increases in substance use slopes for children with low inhibitory control receiving individual intervention, and for children with higher inhibitory control receiving group intervention. Children with low inhibitory control but who displayed more positive behavioral engagement in the group sessions had slower increases in their substance use than did similar children without positive engagement. Aggressive children’s level of inhibitory control can lead to tailoring of group versus individual delivery of intervention. Children’s positive behavioral engagement in group sessions is a protective factor for children with low inhibitory control. Full article
(This article belongs to the Special Issue Disruptive Behavior Disorders: Symptoms, Evaluation and Treatment)
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11 pages, 264 KiB  
Article
Oxcarbazepine for Behavioral Disorders after Brain Injury: Factors Influencing Efficacy
by Marco Pozzi, Paolo Avantaggiato, Valentina Pastore, Carla Carnovale, Emilio Clementi and Sandra Strazzer
Brain Sci. 2021, 11(7), 949; https://doi.org/10.3390/brainsci11070949 - 19 Jul 2021
Cited by 1 | Viewed by 2741
Abstract
Carbamazepine and oxcarbazepine are used for behavioral disorders following organic diseases. After severe acquired brain injury, patients may develop frontal symptoms. In our neurological rehabilitation routine, oxcarbazepine is used for better safety over carbamazepine, although its efficacy is not clarified. We aimed to [...] Read more.
Carbamazepine and oxcarbazepine are used for behavioral disorders following organic diseases. After severe acquired brain injury, patients may develop frontal symptoms. In our neurological rehabilitation routine, oxcarbazepine is used for better safety over carbamazepine, although its efficacy is not clarified. We aimed to improve knowledge on this use of oxcarbazepine, by probing clinical factors associated with response. We retrospectively examined the clinical records of our patients, collecting clinical variables and outcomes of efficacy, both clinician-rated and caregiver/self-rated. We described the distribution of clinical variables and examined their associations via logistic regressions. Patients in our cohort were predominantly pediatric, with frontal lobe damage and irritable/reactive. With an oxcarbazepine median dose of 975 mg, almost half of patients improved. We found several clinical factors associated with clinician-rated efficacy: absence of frontal damage and absence of irritability/reactivity symptoms; clinical factors associated with caregivers/patients-rated efficacy were: higher DRS score at baseline and higher patient age. In this retrospective study, we observed that oxcarbazepine was differentially efficacious in patients with specific characteristics. Our study could not examine drug therapy separately from neuropsychological therapy, nor the influence of dose. Our associative results should be verified experimentally, also assessing causality and establishing dose-related efficacy and safety. Full article
(This article belongs to the Section Neurorehabilitation)
82 pages, 965 KiB  
Systematic Review
Therapeutic Neurostimulation in Obsessive-Compulsive and Related Disorders: A Systematic Review
by Nicola Acevedo, Peter Bosanac, Toni Pikoos, Susan Rossell and David Castle
Brain Sci. 2021, 11(7), 948; https://doi.org/10.3390/brainsci11070948 - 19 Jul 2021
Cited by 30 | Viewed by 4871 | Correction
Abstract
Invasive and noninvasive neurostimulation therapies for obsessive-compulsive and related disorders (OCRD) were systematically reviewed with the aim of assessing clinical characteristics, methodologies, neuroanatomical substrates, and varied stimulation parameters. Previous reviews have focused on a narrow scope, statistical rather than clinical significance, grouped together [...] Read more.
Invasive and noninvasive neurostimulation therapies for obsessive-compulsive and related disorders (OCRD) were systematically reviewed with the aim of assessing clinical characteristics, methodologies, neuroanatomical substrates, and varied stimulation parameters. Previous reviews have focused on a narrow scope, statistical rather than clinical significance, grouped together heterogenous protocols, and proposed inconclusive outcomes and directions. Herein, a comprehensive and transdiagnostic evaluation of all clinically relevant determinants is presented with translational clinical recommendations and novel response rates. Electroconvulsive therapy (ECT) studies were limited in number and quality but demonstrated greater efficacy than previously identified. Targeting the pre-SMA/SMA is recommended for transcranial direct current stimulation (tDCS) and transcranial magnetic stimulation (TMS). TMS yielded superior outcomes, although polarity findings were conflicting, and refinement of frontal/cognitive control protocols may optimize outcomes. For both techniques, standardization of polarity, more treatment sessions (>20), and targeting multiple structures are encouraged. A deep brain stimulation (DBS) ‘sweet spot’ of the striatum for OCD was proposed, and CBT is strongly encouraged. Tourette’s patients showed less variance and reliance on treatment optimization. Several DBS targets achieved consistent, rapid, and sustained clinical response. Analysis of fiber connectivity, as opposed to precise neural regions, should be implemented for target selection. Standardization of protocols is necessary to achieve translational outcomes. Full article
(This article belongs to the Section Psychiatric Diseases)
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10 pages, 751 KiB  
Article
Transcranial Direct Current Stimulation (tDCS) for Depression during Pregnancy: Results from an Open-Label Pilot Study
by Anna Katharina Kurzeck, Esther Dechantsreiter, Anja Wilkening, Ulrike Kumpf, Tabea Nenov-Matt, Frank Padberg and Ulrich Palm
Brain Sci. 2021, 11(7), 947; https://doi.org/10.3390/brainsci11070947 - 19 Jul 2021
Cited by 10 | Viewed by 2562
Abstract
Introduction: Depression is the most common morbidity during pregnancy. Available first-line therapy options are limited and depressive disorders in pregnant women are often untreated, leading to negative effects on maternal and fetal health. Objectives: The aim of this open-label pilot study is to [...] Read more.
Introduction: Depression is the most common morbidity during pregnancy. Available first-line therapy options are limited and depressive disorders in pregnant women are often untreated, leading to negative effects on maternal and fetal health. Objectives: The aim of this open-label pilot study is to extend evidence on the use of transcranial direct current stimulation (tDCS) as a treatment of antenatal depression and to point out options for the use of tDCS in this population. Methods: Six drug-free female patients with major depressive disorder during pregnancy (later than 10th gestational week) were included in this pilot study. Patients were treated with twice-daily tDCS (2 mA, 30 min, anode: F3, cathode: F4) over ten days during inpatient stay (Phase 1) and with once-daily tDCS over 10 days during an optional outpatient stay (Phase 2). Clinical (HAMD-21, BDI) and neuropsychological ratings (Trail Making Test A/B) were performed at baseline, after two and four weeks as well as an obstetric examination. Results: Six right-handed females (23–43 years, 12–33. gestational week) completed Phase 1; four patients additionally joined in Phase 2. tDCS was well tolerated and no adverse effects occurred. Clinical ratings showed an improvement of mean baseline HAMD-21 from 22.50 ± 7.56 to 13.67 ± 3.93 after week 2, and to 8.75 ± 4.99 after week 4. The mean baseline BDI was 26.00 ± 13.90 and declined to 11.17 ± 5.46 after week 2, and to 9.25 ± 3.30 after week 4. Conclusions: Statistically significant changes in HAMD-21 and BDI were observed after Phase 1. One patient achieved remission in terms of HAMD in Phase 1. Although this small-scale study lacks sham control, it shows clinical improvement and absence of adverse events in this critical population. Full article
(This article belongs to the Special Issue Brain Stimulation and Neuroplasticity—Series II)
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11 pages, 973 KiB  
Article
Enhanced Expectation of External Sensations of the Chest Regulates the Emotional Perception of Fearful Faces
by Won-Mo Jung, In-Seon Lee, Ye-Seul Lee, Yeonhee Ryu, Hi-Joon Park and Younbyoung Chae
Brain Sci. 2021, 11(7), 946; https://doi.org/10.3390/brainsci11070946 - 19 Jul 2021
Viewed by 1888
Abstract
Emotional perception can be shaped by inferences about bodily states. Here, we investigated whether exteroceptive inferences about bodily sensations in the chest area influence the perception of fearful faces. Twenty-two participants received pseudo-electrical acupuncture stimulation at three different acupoints: CV17 (chest), CV23 (chin), [...] Read more.
Emotional perception can be shaped by inferences about bodily states. Here, we investigated whether exteroceptive inferences about bodily sensations in the chest area influence the perception of fearful faces. Twenty-two participants received pseudo-electrical acupuncture stimulation at three different acupoints: CV17 (chest), CV23 (chin), and PC6 (left forearm). All stimuli were delivered with corresponding visual cues, and the control condition included visual cues that did not match the stimulated body sites. After the stimulation, the participants were shown images with one of five morphed facial expressions, ranging from 100% fear to 100% disgust, and asked to classify them as fearful or disgusted. Brain activity was measured using functional magnetic resonance imaging during the facial expression classification task. When the participants expected that they would receive stimulation of the chest (CV17), the ratio of fearful to non-fearful classifications decreased compared to the control condition, and brain activities within the periaqueductal gray and the default mode network decreased when they viewed fearful faces. Our findings suggest that bodily sensations around the chest, but not the other tested body parts, were selectively associated with fear perception and that altering external inferences inhibited the perception of fearful faces. Full article
(This article belongs to the Special Issue The Interplay between Cognition and Emotion in PTSD)
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8 pages, 225 KiB  
Article
Minor Non-Disabling Stroke Patients with Large Vessel Severe Stenosis or Occlusion Might Benefit from Thrombolysis
by Wansi Zhong, Ying Zhou, Kemeng Zhang, Shenqiang Yan, Jianzhong Sun and Min Lou
Brain Sci. 2021, 11(7), 945; https://doi.org/10.3390/brainsci11070945 - 19 Jul 2021
Cited by 3 | Viewed by 2248
Abstract
Background: The benefit of alteplase in minor non-disabling acute ischemic stroke (AIS) is unknown. We aimed to explore the clinical efficacy of alteplase-treatment in minor non-disabling stroke in clinical practice. Methods: We used a prospectively collected database of AIS patients who were being [...] Read more.
Background: The benefit of alteplase in minor non-disabling acute ischemic stroke (AIS) is unknown. We aimed to explore the clinical efficacy of alteplase-treatment in minor non-disabling stroke in clinical practice. Methods: We used a prospectively collected database of AIS patients who were being assessed for thrombolysis with alteplase. Minor non-disabling AIS was identified as patients with baseline National Institutes of Health Stroke Scale (NIHSS) score ≤ 5 and a score 0 or 1 on each baseline NIHSS score item (items 1a to 1c being 0). Results: A total of 461 patients with minor non-disabling AIS were included and among them 240 (52.1%) patients were treated with alteplase and 113 (24.5%) patients had severe stenosis/occlusion of large vessels. No significant association of 90-day excellent outcome was found with alteplase-treatment (77.1% vs. 80.5%, p 1 = 0.425; OR 0.911, 95% CI 0.428 to 1.940; p 2 = 0.808). However, among patients with severe stenosis/occlusion of large vessels, alteplase-treatment was independently associated with excellent outcome (74.4% vs. 45.7%, p 1 = 0.005; OR 4.709, 95% CI 1.391 to 11.962; p 2 = 0.010). Conclusion: Although alteplase-treatment did not result in an excellent outcome in general minor non-disabling stroke patients, it may work in those specific patients who had severe stenosis/occlusion of large vessels. Full article
(This article belongs to the Section Neurotechnology and Neuroimaging)
15 pages, 6361 KiB  
Article
Distinct Cellular Profiles of Hif1a and Vegf mRNA Localization in Microglia, Astrocytes and Neurons during a Period of Vascular Maturation in the Auditory Brainstem of Neonate Rats
by Daphne Chang, Quetanya Brown, Grace Tsui, Ye He, Jia Liu, Lingyan Shi and Adrián Rodríguez-Contreras
Brain Sci. 2021, 11(7), 944; https://doi.org/10.3390/brainsci11070944 - 18 Jul 2021
Cited by 4 | Viewed by 3044
Abstract
Defining the relationship between vascular development and the expression of hypoxia-inducible factors (Hifs) and vascular endothelial growth factor (Vegf) in the auditory brainstem is important to understand how tissue hypoxia caused by oxygen shortage contributes to sensory deficits in [...] Read more.
Defining the relationship between vascular development and the expression of hypoxia-inducible factors (Hifs) and vascular endothelial growth factor (Vegf) in the auditory brainstem is important to understand how tissue hypoxia caused by oxygen shortage contributes to sensory deficits in neonates. In this study, we used histology, molecular labeling, confocal microscopy and 3D image processing methods to test the hypothesis that significant maturation of the vascular bed in the medial nucleus of the trapezoid body (MNTB) occurs during the postnatal period that precedes hearing onset. Isolectin-B4 histochemistry experiments suggested that the MNTB vasculature becomes more elaborate between P5 and P10. When combined with a cell proliferation marker and immunohistochemistry, we found that vascular growth coincides with a switch in the localization of proliferating cells to perivascular locations, and an increase in the density of microglia within the MNTB. Furthermore, microglia were identified as perivascular cells with proliferative activity during the period of vascular maturation. Lastly, combined in situ hybridization and immunohistochemistry experiments showed distinct profiles of Hif1a and Vegf mRNA localization in microglia, astrocytes and MNTB principal neurons. These results suggest that different cells of the neuro-glio-vascular unit are likely targets of hypoxic insult in the auditory brainstem of neonate rats. Full article
(This article belongs to the Section Developmental Neuroscience)
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9 pages, 838 KiB  
Article
Brain Structural Connectivity Differences in Patients with Normal Cognition and Cognitive Impairment
by Nauris Zdanovskis, Ardis Platkājis, Andrejs Kostiks, Guntis Karelis and Oļesja Grigorjeva
Brain Sci. 2021, 11(7), 943; https://doi.org/10.3390/brainsci11070943 - 18 Jul 2021
Cited by 5 | Viewed by 2559
Abstract
Advances in magnetic resonance imaging, particularly diffusion imaging, have allowed researchers to analyze brain connectivity. Identification of structural connectivity differences between patients with normal cognition, cognitive impairment, and dementia could lead to new biomarker discoveries that could improve dementia diagnostics. In our study, [...] Read more.
Advances in magnetic resonance imaging, particularly diffusion imaging, have allowed researchers to analyze brain connectivity. Identification of structural connectivity differences between patients with normal cognition, cognitive impairment, and dementia could lead to new biomarker discoveries that could improve dementia diagnostics. In our study, we analyzed 22 patients (11 control group patients, 11 dementia group patients) that underwent 3T MRI diffusion tensor imaging (DTI) scans and the Montreal Cognitive Assessment (MoCA) test. We reconstructed DTI images and used the Desikan–Killiany–Tourville cortical parcellation atlas. The connectivity matrix was calculated, and graph theoretical analysis was conducted using DSI Studio. We found statistically significant differences between groups in the graph density, network characteristic path length, small-worldness, global efficiency, and rich club organization. We did not find statistically significant differences between groups in the average clustering coefficient and the assortativity coefficient. These statistically significant graph theory measures could potentially be used as quantitative biomarkers in cognitive impairment and dementia diagnostics. Full article
(This article belongs to the Special Issue Imaging Human Brain Connectivity in Health and Disease)
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19 pages, 1783 KiB  
Article
Spatiotemporal Dynamics of Covert Versus Overt Processing of Happy, Fearful and Sad Facial Expressions
by Antonio Maffei, Jennifer Goertzen, Fern Jaspers-Fayer, Killian Kleffner, Paola Sessa and Mario Liotti
Brain Sci. 2021, 11(7), 942; https://doi.org/10.3390/brainsci11070942 - 17 Jul 2021
Cited by 15 | Viewed by 2934
Abstract
Behavioral and electrophysiological correlates of the influence of task demands on the processing of happy, sad, and fearful expressions were investigated in a within-subjects study that compared a perceptual distraction condition with task-irrelevant faces (e.g., covert emotion task) to an emotion task-relevant categorization [...] Read more.
Behavioral and electrophysiological correlates of the influence of task demands on the processing of happy, sad, and fearful expressions were investigated in a within-subjects study that compared a perceptual distraction condition with task-irrelevant faces (e.g., covert emotion task) to an emotion task-relevant categorization condition (e.g., overt emotion task). A state-of-the-art non-parametric mass univariate analysis method was used to address the limitations of previous studies. Behaviorally, participants responded faster to overtly categorized happy faces and were slower and less accurate to categorize sad and fearful faces; there were no behavioral differences in the covert task. Event-related potential (ERP) responses to the emotional expressions included the N170 (140–180 ms), which was enhanced by emotion irrespective of task, with happy and sad expressions eliciting greater amplitudes than neutral expressions. EPN (200–400 ms) amplitude was modulated by task, with greater voltages in the overt condition, and by emotion, however, there was no interaction of emotion and task. ERP activity was modulated by emotion as a function of task only at a late processing stage, which included the LPP (500–800 ms), with fearful and sad faces showing greater amplitude enhancements than happy faces. This study reveals that affective content does not necessarily require attention in the early stages of face processing, supporting recent evidence that the core and extended parts of the face processing system act in parallel, rather than serially. The role of voluntary attention starts at an intermediate stage, and fully modulates the response to emotional content in the final stage of processing. Full article
(This article belongs to the Special Issue Neural Bases of Cognitive Processing)
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13 pages, 1352 KiB  
Article
Glutathione as a Molecular Marker of Functional Impairment in Patients with At-Risk Mental State: 7-Tesla 1H-MRS Study
by Peter Jeon, Roberto Limongi, Sabrina D. Ford, Cassandra Branco, Michael Mackinley, Maya Gupta, Laura Powe, Jean Théberge and Lena Palaniyappan
Brain Sci. 2021, 11(7), 941; https://doi.org/10.3390/brainsci11070941 - 17 Jul 2021
Cited by 8 | Viewed by 2881
Abstract
A substantial number of individuals with clinical high-risk (CHR) mental state do not transition to psychosis. However, regardless of future diagnostic trajectories, many of these individuals develop poor social and occupational functional outcomes. The levels of glutathione, a crucial cortical antioxidant, may track [...] Read more.
A substantial number of individuals with clinical high-risk (CHR) mental state do not transition to psychosis. However, regardless of future diagnostic trajectories, many of these individuals develop poor social and occupational functional outcomes. The levels of glutathione, a crucial cortical antioxidant, may track variations in functional outcomes in early psychosis and prodromal states. Thirteen clinical high-risk and 30 healthy control volunteers were recruited for a 7-Tesla magnetic resonance spectroscopy scan with a voxel positioned within the dorsal anterior cingulate cortex (ACC). Clinical assessment scores were collected to determine if any association was observable with glutathione levels. The Bayesian Spearman’s test revealed a positive association between the Social and Occupational Functioning Assessment Scale (SOFAS) and the glutathione concentration in the clinical high-risk group but not in the healthy control group. After accounting for variations in the SOFAS scores, the CHR group had higher GSH levels than the healthy subjects. This study is the first to use 7-Tesla magnetic resonance spectroscopy to test whether ACC glutathione levels relate to social and occupational functioning in a clinically high-risk group and offers preliminary support for glutathione levels as a clinically actionable marker of prognosis in emerging adults presenting with risk features for various severe mental illnesses. Full article
(This article belongs to the Special Issue Neuroprotection and Oxidative Distress)
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2 pages, 159 KiB  
Editorial
Biochemical Biomarkers and Neurodegenerative Diseases
by Marcello Ciaccio
Brain Sci. 2021, 11(7), 940; https://doi.org/10.3390/brainsci11070940 - 16 Jul 2021
Cited by 1 | Viewed by 1790
Abstract
Neurodegenerative diseases (ND) are a heterogeneous group of disorders characterized by progressive dysfunction and loss of neurons in different areas of the central nervous system or peripheral nervous system [...] Full article
(This article belongs to the Special Issue Biochemical Biomarkers and Neurodegenerative Diseases)
11 pages, 1549 KiB  
Article
Early Visual Attention Abilities and Audiovisual Speech Processing in 5–7 Month-Old Down Syndrome and Typically Developing Infants
by Jovana Pejovic, Marisa Cruz, Cátia Severino and Sónia Frota
Brain Sci. 2021, 11(7), 939; https://doi.org/10.3390/brainsci11070939 - 16 Jul 2021
Cited by 3 | Viewed by 2732
Abstract
Communicative abilities in infants with Down syndrome (DS) are delayed in comparison to typically developing (TD) infants, possibly affecting language development in DS. Little is known about what abilities might underlie poor communication and language skills in DS, such as visual attention and [...] Read more.
Communicative abilities in infants with Down syndrome (DS) are delayed in comparison to typically developing (TD) infants, possibly affecting language development in DS. Little is known about what abilities might underlie poor communication and language skills in DS, such as visual attention and audiovisual speech processing. This study compares DS and TD infants between 5–7 months of age in a visual orientation task, and an audiovisual speech processing task, which assessed infants’ looking pattern to communicative cues (i.e., face, eyes, mouth, and waving arm). Concurrent communicative abilities were also assessed via the CSBS-DP checklist. We observed that DS infants orient their visual attention slower than TD infants. Both groups attended more to the eyes than the mouth, and more to the face than the waving arm. However, DS infants attended less to the eyes than the background, and equally to the face and the background, suggesting their difficulty to assess linguistically relevant cues. Finally, communicative skills were related to attention to the eyes in TD, but not in DS infants. Our study showed that early attentional and audiovisual abilities are impaired in DS infants, and might underlie their communication skills, suggesting that early interventions in this population should emphasize those skills. Full article
(This article belongs to the Special Issue Down Syndrome: Neuropsychological Phenotype across the Lifespan)
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20 pages, 6973 KiB  
Article
Disrupted Functional Rich-Club Organization of the Brain Networks in Children with Attention-Deficit/Hyperactivity Disorder, a Resting-State EEG Study
by Maliheh Ahmadi, Kamran Kazemi, Katarzyna Kuc, Anita Cybulska-Klosowicz, Mohammad Sadegh Helfroush and Ardalan Aarabi
Brain Sci. 2021, 11(7), 938; https://doi.org/10.3390/brainsci11070938 - 16 Jul 2021
Cited by 4 | Viewed by 3046
Abstract
Growing evidence indicates that disruptions in the brain’s functional connectivity play an important role in the pathophysiology of ADHD. The present study investigates alterations in resting-state EEG source connectivity and rich-club organization in children with inattentive (ADHDI) and combined (ADHDC [...] Read more.
Growing evidence indicates that disruptions in the brain’s functional connectivity play an important role in the pathophysiology of ADHD. The present study investigates alterations in resting-state EEG source connectivity and rich-club organization in children with inattentive (ADHDI) and combined (ADHDC) ADHD compared with typically developing children (TD) under the eyes-closed condition. EEG source analysis was performed by eLORETA in different frequency bands. The lagged phase synchronization (LPS) and graph theoretical metrics were then used to examine group differences in the topological properties and rich-club organization of functional networks. Compared with the TD children, the ADHDI children were characterized by a widespread significant decrease in delta and beta LPS, as well as increased theta and alpha LPS in the left frontal and right occipital regions. The ADHDC children displayed significant increases in LPS in the central, temporal and posterior areas. Both ADHD groups showed small-worldness properties with significant increases and decreases in the network degree in the θ and β bands, respectively. Both subtypes also displayed reduced levels of network segregation. Group differences in rich-club distribution were found in the central and posterior areas. Our findings suggest that resting-state EEG source connectivity analysis can better characterize alterations in the rich-club organization of functional brain networks in ADHD patients. Full article
(This article belongs to the Special Issue Brain Dynamics and Connectivity from Birth through Adulthood)
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17 pages, 6724 KiB  
Article
Studying Brain Activation during Skill Acquisition via Robot-Assisted Surgery Training
by Kurtulus Izzetoglu, Mehmet Emin Aksoy, Atahan Agrali, Dilek Kitapcioglu, Mete Gungor and Aysun Simsek
Brain Sci. 2021, 11(7), 937; https://doi.org/10.3390/brainsci11070937 - 16 Jul 2021
Cited by 6 | Viewed by 2225
Abstract
Robot-assisted surgery systems are a recent breakthrough in minimally invasive surgeries, offering numerous benefits to both patients and surgeons including, but not limited to, greater visualization of the operation site, greater precision during operation and shorter hospitalization times. Training on robot-assisted surgery (RAS) [...] Read more.
Robot-assisted surgery systems are a recent breakthrough in minimally invasive surgeries, offering numerous benefits to both patients and surgeons including, but not limited to, greater visualization of the operation site, greater precision during operation and shorter hospitalization times. Training on robot-assisted surgery (RAS) systems begins with the use of high-fidelity simulators. Hence, the increasing demand of employing RAS systems has led to a rise in using RAS simulators to train medical doctors. The aim of this study was to investigate the brain activity changes elicited during the skill acquisition of resident surgeons by measuring hemodynamic changes from the prefrontal cortex area via a neuroimaging sensor, namely, functional near-infrared spectroscopy (fNIRS). Twenty-four participants, who are resident medical doctors affiliated with different surgery departments, underwent an RAS simulator training during this study and completed the sponge suturing tasks at three different difficulty levels in two consecutive sessions/blocks. The results reveal that cortical oxygenation changes in the prefrontal cortex were significantly lower during the second training session (Block 2) compared to the initial training session (Block 1) (p < 0.05). Full article
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15 pages, 674 KiB  
Article
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations
by Floriana Valentino, Lucia Pia Bruno, Gabriella Doddato, Annarita Giliberti, Rossella Tita, Sara Resciniti, Chiara Fallerini, Mirella Bruttini, Caterina Lo Rizzo, Maria Antonietta Mencarelli, Francesca Mari, Anna Maria Pinto, Francesca Fava, Margherita Baldassarri, Alessandra Fabbiani, Vittoria Lamacchia, Elisa Benetti, Kristina Zguro, Simone Furini, Alessandra Renieri and Francesca Arianiadd Show full author list remove Hide full author list
Brain Sci. 2021, 11(7), 936; https://doi.org/10.3390/brainsci11070936 - 16 Jul 2021
Cited by 15 | Viewed by 2925
Abstract
Intellectual disability (ID) and autism spectrum disorder (ASD) belong to neurodevelopmental disorders and occur in ~1% of the general population. Due to disease heterogeneity, identifying the etiology of ID and ASD remains challenging. Exome sequencing (ES) offers the opportunity to rapidly identify variants [...] Read more.
Intellectual disability (ID) and autism spectrum disorder (ASD) belong to neurodevelopmental disorders and occur in ~1% of the general population. Due to disease heterogeneity, identifying the etiology of ID and ASD remains challenging. Exome sequencing (ES) offers the opportunity to rapidly identify variants associated with these two entities that often co-exist. Here, we performed ES in a cohort of 200 patients: 84 with isolated ID and 116 with ID and ASD. We identified 41 pathogenic variants with a detection rate of 22% (43/200): 39% in ID patients (33/84) and 9% in ID/ASD patients (10/116). Most of the causative genes are genes responsible for well-established genetic syndromes that have not been recognized for atypical phenotypic presentations. Two genes emerged as new candidates: CACNA2D1 and GPR14. In conclusion, this study reinforces the importance of ES in the diagnosis of ID/ASD and underlines that “reverse phenotyping” is fundamental to enlarge the phenotypic spectra associated with specific genes. Full article
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18 pages, 3159 KiB  
Article
Working Memory Performance under a Negative Affect Is More Susceptible to Higher Cognitive Workloads with Different Neural Haemodynamic Correlates
by Ying Xing Feng, Masashi Kiguchi, Wei Chun Ung, Sarat Chandra Dass, Ahmad Fadzil Mohd Hani, Tong Boon Tang and Eric Tatt Wei Ho
Brain Sci. 2021, 11(7), 935; https://doi.org/10.3390/brainsci11070935 - 15 Jul 2021
Cited by 2 | Viewed by 2695
Abstract
The effect of stress on task performance is complex, too much or too little stress negatively affects performance and there exists an optimal level of stress to drive optimal performance. Task difficulty and external affective factors are distinct stressors that impact cognitive performance. [...] Read more.
The effect of stress on task performance is complex, too much or too little stress negatively affects performance and there exists an optimal level of stress to drive optimal performance. Task difficulty and external affective factors are distinct stressors that impact cognitive performance. Neuroimaging studies showed that mood affects working memory performance and the correlates are changes in haemodynamic activity in the prefrontal cortex (PFC). We investigate the interactive effects of affective states and working memory load (WML) on working memory task performance and haemodynamic activity using functional near-infrared spectroscopy (fNIRS) neuroimaging on the PFC of healthy participants. We seek to understand if haemodynamic responses could tell apart workload-related stress from situational stress arising from external affective distraction. We found that the haemodynamic changes towards affective stressor- and workload-related stress were more dominant in the medial and lateral PFC, respectively. Our study reveals distinct affective state-dependent modulations of haemodynamic activity with increasing WML in n-back tasks, which correlate with decreasing performance. The influence of a negative effect on performance is greater at higher WML, and haemodynamic activity showed evident changes in temporal, and both spatial and strength of activation differently with WML. Full article
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11 pages, 1087 KiB  
Article
Can Incobotulinumtoxin-A Treatment Improve Quality of Life Better Than Conventional Therapy in Spastic Muscle Post-Stroke Patients? Results from a Pilot Study from a Single Center
by Adina Turcu-Stiolica, Mihaela-Simona Subtirelu and Ana-Maria Bumbea
Brain Sci. 2021, 11(7), 934; https://doi.org/10.3390/brainsci11070934 - 15 Jul 2021
Cited by 4 | Viewed by 1907
Abstract
Post-stroke spasticity frequently occurs in patients with stroke, and there is a need for more quality-of-life assessments for different therapies. We evaluated for the first time in Romania the quality of life among patients with post-stroke spasticity, comparing two therapies over a 6-month [...] Read more.
Post-stroke spasticity frequently occurs in patients with stroke, and there is a need for more quality-of-life assessments for different therapies. We evaluated for the first time in Romania the quality of life among patients with post-stroke spasticity, comparing two therapies over a 6-month period: botulinum toxin type A (BOT) with conventional therapy (CON). We also assessed the reduction of spasticity and functionality secondary to the increase in the mobility in upper limbs. This study was based on a prospective, randomized design, including subjects with post-stroke spasticity (N = 34; 34–80 years of age): in the CON arm, patients received therapy against muscle spasticity and physiotherapy, and, in the BOT arm, patients received incobotulinumtoxin-A and additionally conventional treatment, if required. Among 34 treated subjects in the two arms, the quality of life was significantly higher after BOT therapy (p < 0.001), represented by improvement in movement (p < 0.001), usual activities (p = 0.018), and distress (p < 0.001). Improvements in muscle tone (Ashworth Scale) over 6 months of treatment period were greater in the BOT arm (100%) than in the CON arm (11.8%). These preliminary results suggested that incobotulinumtoxin-A increased quality of life by improving movement, daily activities, mental health, and muscle tone more effectively than conventional therapy and could form a basis for future comparator studies. Full article
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15 pages, 845 KiB  
Article
Personal and Environmental Predictors of Aggression in Adolescence
by Claudia A. Robles-Haydar, Marina B. Martínez-González, Yuliana A. Flórez-Niño, Luz M. Ibáñez-Navarro and José J. Amar-Amar
Brain Sci. 2021, 11(7), 933; https://doi.org/10.3390/brainsci11070933 - 15 Jul 2021
Cited by 11 | Viewed by 3625
Abstract
This study aims to find causal factors of aggression in a group of Latino adolescents to achieve a greater understanding of human nature, taking into account personal and contextual variables. The fundamental hypothesis is that moral disengagement, personality traits, self-esteem, values, parenting, sex, [...] Read more.
This study aims to find causal factors of aggression in a group of Latino adolescents to achieve a greater understanding of human nature, taking into account personal and contextual variables. The fundamental hypothesis is that moral disengagement, personality traits, self-esteem, values, parenting, sex, and socioeconomic situation can function as possible casual factors of aggression in adolescents. The study examined the variables using the structural equations model (SEM) to determine causal factors of aggression in a sample of 827 adolescents (54% men and 46% women) between 11 and 16 years of age. According to the scientific literature review, sociodemographic, personal, and familiar variables were included in the causal model. The influence of the variables occurred in two ways: one that inhibits aggression and the other that reinforces it. The results are discussed based on identifying protective and risk factors against aggression: biological sex and values of conformity and transcendence as aggression’s inhibitors and, on the other hand, openness, moral disengagement, and leadership values as the most important predictors of aggression. Full article
(This article belongs to the Special Issue Disruptive Behavior Disorders: Symptoms, Evaluation and Treatment)
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5 pages, 1364 KiB  
Case Report
Stiff-Eye Syndrome—Anti-GAD Ataxia Presenting with Isolated Ophthalmoplegia: A Case Report
by Abel Dantas Belém, Thaís de Maria Frota Vasconcelos, Rafael César dos Anjos de Paula, Francisco Bruno Santana da Costa, Pedro Gustavo Barros Rodrigues, Isabelle de Sousa Pereira, Paulo Roberto de Arruda Tavares, Gabriela Studart Galdino, Daniel Aguiar Dias, Carolina de Figueiredo Santos, Manoel Alves Sobreira-Neto, Pedro Braga-Neto and Paulo Ribeiro Nobrega
Brain Sci. 2021, 11(7), 932; https://doi.org/10.3390/brainsci11070932 - 14 Jul 2021
Cited by 1 | Viewed by 2086
Abstract
Anti-GAD ataxia is one of the most common forms of immune-mediated cerebellar ataxias. Many neurological syndromes have been reported in association with anti-GAD. Ophthalmoparesis has been described in stiff person syndrome. We report a case of anti-GAD ataxia presenting initially with isolated ophthalmoplegia [...] Read more.
Anti-GAD ataxia is one of the most common forms of immune-mediated cerebellar ataxias. Many neurological syndromes have been reported in association with anti-GAD. Ophthalmoparesis has been described in stiff person syndrome. We report a case of anti-GAD ataxia presenting initially with isolated ophthalmoplegia and showing complete resolution after immunotherapy. A 26-year-old male patient presented with ophthalmoparesis characterized by tonic upwards deviation of the right eye. In the following month, he developed progressive ataxia with anti-GAD titers of 1972 UI/mL. After treatment with methylprednisolone and immunoglobulin, there was complete resolution of symptoms and anti-GAD titers decreased. This is the first report of isolated ophthalmoparesis due to tonic eye deviation associated with anti-GAD antibodies without stiff-person syndrome. Tonic eye deviation has been reported in SPS, possibly secondary to continuous discharge in gaze holding neurons in the brainstem (similar to what occurs in spinal motor neurons). With growing evidence for ocular abnormalitites in SPS, anti-GAD associated neurological syndromes should be included in the differential diagnosis of isolated ophthalmoplegia. Full article
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10 pages, 637 KiB  
Article
Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder
by Siddharth Srivastava, Erica L. Macke, Lindsay C. Swanson, David Coulter, Eric W. Klee, Sureni V. Mullegama, Yili Xie, Brendan C. Lanpher, Emma C. Bedoukian, Cara M. Skraban, Laurent Villard, Mathieu Milh, Mary L. O. Leppert and Julie S. Cohen
Brain Sci. 2021, 11(7), 931; https://doi.org/10.3390/brainsci11070931 - 14 Jul 2021
Cited by 6 | Viewed by 2283
Abstract
In humans, de novo truncating variants in WASF1 (Wiskott–Aldrich syndrome protein family member 1) have been linked to presentations of moderate-to-profound intellectual disability (ID), autistic features, and epilepsy. Apart from one case series, there is limited information on the phenotypic spectrum and genetic [...] Read more.
In humans, de novo truncating variants in WASF1 (Wiskott–Aldrich syndrome protein family member 1) have been linked to presentations of moderate-to-profound intellectual disability (ID), autistic features, and epilepsy. Apart from one case series, there is limited information on the phenotypic spectrum and genetic landscape of WASF1-related neurodevelopmental disorder (NDD). In this report, we describe detailed clinical characteristics of six individuals with WASF1-related NDD. We demonstrate a broader spectrum of neurodevelopmental impairment including more mildly affected individuals. Further, we report new variant types, including a copy number variant (CNV), resulting in the partial deletion of WASF1 in monozygotic twins, and three missense variants, two of which alter the same residue, p.W161. This report adds further evidence that de novo variants in WASF1 cause an autosomal dominant NDD. Full article
(This article belongs to the Special Issue Neuro-Developmental Disorders: Bench-to-Bedside)
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11 pages, 807 KiB  
Case Report
Influence of Mirror Therapy (Specular Face Software) on Electromyographic Behavior of the Facial Muscles for Facial Palsy
by Alfonso Gil-Martínez, Sergio Lerma-Lara, Alfredo Hernando-Jorge, Ana Campos-Vegas, Audrey Aceval, Rafael Pagés-Scasso, Francisco Morán-Burgos and Hector Beltran-Alacreu
Brain Sci. 2021, 11(7), 930; https://doi.org/10.3390/brainsci11070930 - 14 Jul 2021
Cited by 5 | Viewed by 3479
Abstract
Introduction: Facial paralysis (FP) is a neuromuscular disorder caused by facial nerve injury. There are two main types of FP (which can be either primary or secondary): central and peripheral; Procedure of cases: This case series presents five patients with facial paralysis with [...] Read more.
Introduction: Facial paralysis (FP) is a neuromuscular disorder caused by facial nerve injury. There are two main types of FP (which can be either primary or secondary): central and peripheral; Procedure of cases: This case series presents five patients with facial paralysis with different etiologies. In all cases, we assessed the facial disability index and a clinical test registering the electromyographic activity, with and without biofeedback generated by Specular Face, a new software program; Discussion: After performing the appropriate tests, we checked the patients’ ability to change certain expressions when the Specular Face program was added. We can confirm that the mirror visual feedback therapy changes the behavior of synkinesis and the muscle function in these patients; Conclusion: The use of mirror therapy using a computerized treatment system of facial images yields promising results in modulating the muscle activity of patients with FP. Full article
(This article belongs to the Special Issue Applications of Neuromodulation on Pain and Motor Learning)
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13 pages, 1034 KiB  
Article
Losing the Self in Near-Death Experiences: The Experience of Ego-Dissolution
by Charlotte Martial, Géraldine Fontaine, Olivia Gosseries, Robin Carhart-Harris, Christopher Timmermann, Steven Laureys and Héléna Cassol
Brain Sci. 2021, 11(7), 929; https://doi.org/10.3390/brainsci11070929 - 14 Jul 2021
Cited by 15 | Viewed by 8595
Abstract
Many people who have had a near-death experience (NDE) describe, as part of it, a disturbed sense of having a “distinct self”. However, no empirical studies have been conducted to explore the frequency or intensity of these effects. We surveyed 100 NDE experiencers [...] Read more.
Many people who have had a near-death experience (NDE) describe, as part of it, a disturbed sense of having a “distinct self”. However, no empirical studies have been conducted to explore the frequency or intensity of these effects. We surveyed 100 NDE experiencers (Near-Death-Experience Content [NDE-C] scale total score ≥27/80). Eighty participants had their NDEs in life-threatening situations and 20 had theirs not related to life-threatening situations. Participants completed the Ego-Dissolution Inventory (EDI) and the Ego-Inflation Inventory (EII) to assess the experience of ego dissolution and inflation potentially experienced during their NDE, respectively. They also completed the Nature-Relatedness Scale (NR-6) which measures the trait-like construct of one’s self-identification with nature. Based on prior hypotheses, ratings of specific NDE-C items pertaining to out-of-body experiences and a sense of unity were used for correlational analyses. We found higher EDI total scores compared with EII total scores in our sample. Total scores of the NDE-C scale were positively correlated with EDI total scores and, although less strongly, the EII and NR-6 scores. EDI total scores were also positively correlated with the intensity of OBE and a sense of unity. This study suggests that the experience of dissolved ego-boundaries is a common feature of NDEs. Full article
(This article belongs to the Special Issue Recent Advances in the Study of Altered State of Consciousness)
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21 pages, 700 KiB  
Article
Psychosocial Features of Shift Work Disorder
by Annie Vallières, Chantal Mérette, Alric Pappathomas, Monica Roy and Célyne H. Bastien
Brain Sci. 2021, 11(7), 928; https://doi.org/10.3390/brainsci11070928 - 14 Jul 2021
Cited by 2 | Viewed by 3869
Abstract
To better understand Shift Work Disorder (SWD), this study investigates insomnia, sleepiness, and psychosocial features of night workers. The study compares night workers with or without SWD to day workers with or without insomnia. Seventy-nine night workers and 40 day workers underwent diagnostic [...] Read more.
To better understand Shift Work Disorder (SWD), this study investigates insomnia, sleepiness, and psychosocial features of night workers. The study compares night workers with or without SWD to day workers with or without insomnia. Seventy-nine night workers and 40 day workers underwent diagnostic interviews for sleep disorders and for psychopathologies. They completed questionnaires and a sleep diary for 14 days. The design was observatory upon two factors: Work schedule (night, day work) and sleep (good sleep, SWD/insomnia). Two-way ANCOVAs were conducted on psychosocial variables, and effect size were calculated. The clinical approach chosen led to distinct groups of workers. Night workers slept several periods (main sleep period after work, naps, nights on days off). High total wake time and low total sleep time characterized sleep in SWD. Most night workers with SWD still complained of sleepiness after main sleep. Cognitive activation distinguished groups of night workers. All other differences in psychosocial variables between night workers groups were similar to, but smaller than, the ones between day workers. The evaluation of SWD should consider all sleep periods of night workers with particular attention to self-reported total wake time, state sleepiness, and level of cognitive activation. Full article
(This article belongs to the Section Behavioral Neuroscience)
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