Jinhuan Huang,1 Longlong Wang2 1Department of Pulmonary and Critical Care Medicine, People’s Hospital of Chenghai, Shantou Overseas Chinese Hospital, Shantou, People’s Republic of China; 2Division I, Department of Geriatric Respiratory, Guangdong Provincial People’s Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangdong Provincial Geriatrics Institute, Guangzhou, People’s Republic of ChinaCorrespondence: Longlong Wang, Division I, Department of Geriatric Respiratory, Guangdong Provincial People’s Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangdong Provincial Geriatrics Institute, No. 106, Zhongshan 2 nd Road, Yuexiu District, Guangzhou, People’s Republic of China, Tel +86 15521227561, Email wanglonglong@gdph.org.cnBackground: The prognostic value of sleep depth remains poorly understood. The odds ratio product (ORP) is a novel electroencephalogram-based biomarker of sleep depth. We investigated the association between ORP-derived biomarkers and all-cause mortality in a large community-based cohort.Methods: We analyzed 5802 Sleep Heart Health Study participants. A suite of ORP biomarkers was derived from baseline polysomnography, including mean ORP values across sleep stages, change in ORP across the night (ΔORP), interhemispheric sleep depth coherence (ORP Icc R/L), and ORP architecture phenotypes. Cox proportional hazards models with false discovery rate (FDR) correction estimated mortality associations. Prognostic nomograms were constructed based on variables selected through least absolute shrinkage and selection operator (LASSO) and multivariable Cox regression.Results: During 11.0 years of follow-up, 1305 deaths occurred. After multivariable adjustment and FDR correction, higher ORPW (HR: 0.54, 95% CI: 0.39– 0.73), ORPREM (HR: 0.81, 95% CI: 0.69– 0.95), ORPN1 (HR: 0.71, 95% CI: 0.59– 0.87), ORP ICC R/L (HR: 0.49, 95% CI: 0.29– 0.81), and ΔORP (HR: 0.70, 95% CI: 0.56– 0.87) were associated with lower mortality risk, while higher ORPN3 (HR: 1.38, 95% CI: 1.06– 1.81) predicted increased risk. ORP architecture phenotypes 1,2 (HR: 1.28, 95% CI: 1.06– 1.56), 1,3 (HR: 1.27, 95% CI: 1.05– 1.54), and 3,1 (HR: 1.48, 95% CI: 1.19– 1.84) conferred higher mortality risk compared to phenotype 2,2. Non-linear associations and threshold effects were identified for ORPN1, ORP ICC R/L, and ΔORP. Among ORP parameters examined, ΔORP and ORP architecture phenotypes were identified as the most important predictors through LASSO and multivariable Cox regression. Prognostic nomograms integrating these selected ORP metrics with traditional risk factors demonstrated excellent discrimination (C-index: 0.81).Conclusion: ORP-derived biomarkers are independently associated with all-cause mortality and complement conventional sleep metrics in refining mortality risk stratification. Identified threshold effects for several ORP parameters may provide potential cutoff points for clinical intervention.Keywords: EEG biomarkers, sleep depth, odds ratio product, all-cause mortality
Tingting Ji,1,* Ting Long,1,* Xiaodan Li,1,* Zhifei Xu,2 Jing Zhao,1 Guixiang Wang,1 Hua Wang,1 Hongbin Li,1 Fengzhen Zhang,1 Li Zheng,1 Shengcai Wang,1 Xin Ni1,3 1Department of Otolaryngology, Head and Neck Surgery, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, 100045, People’s Republic of China; 2Department of Respiratory Medicine, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, 100045, People’s Republic of China; 3Beijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, 100045, People’s Republic of China*These authors contributed equally to this workCorrespondence: Xin Ni, Email nixin@bch.com.cn; Shengcai Wang, Email wsc820329@163.comObjective: To investigate the differences in assessment of clinical characteristics between children with obstructive sleep apnea (OSA) diagnosed according to the 2007 and 2020 guidelines and those without OSA, together with the relationships between polysomnography (PSG) parameters and cognitive tests scores in preschool and school-aged children with OSA.Methods: Eighty children were totally recruited and divided into OSA and non-OSA groups based on two distinct guidelines, with further subclassification into preschool and school-aged subgroups. Differences in PSG parameters and cognitive tests scores between groups and subgroups were analyzed and compared, followed by partial correlation analysis to determine the correlations between these characteristics.Results: Compared to the 2007 guideline, the 2020 guideline demonstrated more significant between-group differences in clinical characteristics assessments, especially verbal intelligent quotient (VIQ). For preschool children in the OSA and non-OSA subgroups, there were significant differences in PSG parameters and Block Diagram between the two guidelines. Additionally, the 2007 guideline showed difference in Picture Vocabulary, where the 2020 guideline exhibited differences in performance IQ (PIQ) and Geometric Figure For school-aged children in the OSA and non-OSA subgroups, both guidelines showed significant differences in PSG parameters, full-scale IQ (FIQ) and Block Diagram. The 2007 guideline had significant differences in PIQ, while the 2020 guideline had difference in VIQ. Furthermore, significant correlations were observed between PSG parameters and cognitive tests scores across different subgroups.Conclusion: The 2020 guideline has advantages in assessing the clinical characteristics of children with OSA, especially for verbal function, and is worthy of clinical promotion and application.Keywords: obstructive sleep apnea, children, guidelines, clinical characteristics
Objective: The segmentation of intracerebral hemorrhage (ICH) lesions in brain CT scans is of paramount importance for the diagnosis and treatment of stroke. Given the tremendous challenge of pixel-wise annotation in intracerebral hemorrhage, weakly supervised segmentation for ICH based on image-level labels has drawn great attention. Typical methods constructed based on convolutional neural networks often suffer from insufficient global perception, making it difficult to address ICH lesion diversity. Therefore, vision transformer, building pair-wise global dependency, becomes a popular alternative. Unfortunately, the data-hungry nature of vision transformer hinders its full exploitation given relatively limited medical imaging data, resulting in over-smoothing issue. Methods: In this paper, based on the observation that most patches/tokens tend to build pair-wise dependency with intracerebral hemorrhage lesion, we propose weighted attention fusion (WAF) to fully utilize over-smoothing attention maps produced by ViT under conditions of limited training data. Compared to existing research, no additional parameters or computational complexity is introduced by WAF when incorporating target-relevant information. In addition, to recall low-confidence/-salient regions in segmentation, a patch-erasing re-activation mechanism is proposed by forcing the model to explore more class-specific regions. Results: Experimental results on three datasets, i.e., INSTANCE2022, LocalBrainCT and BraTS2021 demonstrates the effectiveness of the proposed ICH weakly supervised segmentation framework. Compared to the previous works on the weakly supervised sementation, the proposed architecture obtains the state-of-the-art performance on intracerebral hemorrhage segmentation (Dice of 72.39). Conclusion: This study focus on weakly supervised intracerebral hemorrhage segmentation, and propose a transformer-based framework with weighted attention fusion module and patch-erasing re-activation mechanism. It achives superior performance than previous methods under various settings.
Akitake Okamura, Akira Hashizume, Kota Kagawa
et al.
Most magnetoencephalographic signals are derived from synchronized activity in the brain surface cortex. By contrast, the contribution of synchronized activity in the deep brain to magnetoencephalography (MEG) has remained unclear. We compared stereotactic electroencephalography (sEEG) with simultaneous MEG findings in a patient with temporal lobe epilepsy to determine the conditions under which MEG could also detect sEEG findings. The synchrony and similarity of the waves were evaluated using visual inspection and wavelet coherence. A 45-year-old woman with intractable temporal lobe epilepsy underwent sEEG and MEG simultaneously to determine the laterality and precise location of the epileptic focus. When spike-and-waves were seen in the right hippocampal head alone, no distinct spike-and-waves were observed visually in the right temporal MEG. The seizure then spread to the right insula on sEEG with a rhythmic theta frequency while synchronous activity was observed in the right temporal MEG channels. When polyspikes appeared in the right hippocampus, the right temporal MEG showed electrical activity with relatively high similarity to that of the right hippocampal head and insular cortex but less similarity to that of the right lateral temporal lobe cortex. MEG might detect epileptic activity synchronized between the hippocampus and insular cortex.
Neurology. Diseases of the nervous system, Neurophysiology and neuropsychology
Mikki Schantell, Brittany K. Taylor, Amirsalar Mansouri
et al.
Background: Psychosocial distress among youth is a major public health issue characterized by disruptions in cognitive control processing. Using the National Institute of Mental Health's Research Domain Criteria (RDoC) framework, we quantified multidimensional neural oscillatory markers of psychosocial distress serving cognitive control in youth. Methods: The sample consisted of 39 peri-adolescent participants who completed the NIH Toolbox Emotion Battery (NIHTB-EB) and the Eriksen flanker task during magnetoencephalography (MEG). A psychosocial distress index was computed with exploratory factor analysis using assessments from the NIHTB-EB. MEG data were analyzed in the time-frequency domain and peak voxels from oscillatory maps depicting the neural cognitive interference effect were extracted for voxel time series analyses to identify spontaneous and oscillatory aberrations in dynamics serving cognitive control as a function of psychosocial distress. Further, we quantified the relationship between psychosocial distress and dynamic functional connectivity between regions supporting cognitive control. Results: The continuous psychosocial distress index was strongly associated with validated measures of pediatric psychopathology. Theta-band neural cognitive interference was identified in the left dorsolateral prefrontal cortex (dlPFC) and middle cingulate cortex (MCC). Time series analyses of these regions indicated that greater psychosocial distress was associated with elevated spontaneous activity in both the dlPFC and MCC and blunted theta oscillations in the MCC. Finally, we found that stronger phase coherence between the dlPFC and MCC was associated with greater psychosocial distress. Conclusions: Greater psychosocial distress was marked by alterations in spontaneous and oscillatory theta activity serving cognitive control, along with hyperconnectivity between the dlPFC and MCC.
Neurosciences. Biological psychiatry. Neuropsychiatry, Neurology. Diseases of the nervous system
Chung-Wei Lin,1,2,* Yung-Chun Su,3 Jin-Dien Liu,2,4 Hsiao-Chun Su,5 Ting-Yi Chiang,6 Li-Wen Chiu,7 Hsin-Ching Lin,1,8– 11,* Chun-Tuan Chang,9 Pei-Wen Lin7,8,10 1Department of Otolaryngology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan; 2Department of Education, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan; 3Department of General Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan; 4Department of Urology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan; 5School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; 6Department of Urology, Chi Mei Medical Center, Tainan, Taiwan; 7Department of Ophthalmology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan; 8College of Medicine, Chang Gung University, Taoyuan, Kaohsiung, Taiwan; 9Department of Business Management, Institute of Healthcare Management, National Sun Yat-Sen University, Kaohsiung, Taiwan; 10Institute of Biomedical Science, College of Medicine, National Sun Yat-sen University, Kaohsiung, Taiwan; 11Sleep Center, Robotic Surgery Center and Center for Quality Management Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan*These authors contributed equally to this workCorrespondence: Pei-Wen Lin, Department of Ophthalmology, Kaohsiung Chang Gung Memorial Hospital, 123, Ta-Pei Road, Niao-Sung District, Kaohsiung City, 833, Taiwan, Tel +886-7-7317123 ext.2801, Fax +886-7-7777152, Email lpw324@cgmh.org.tw, lpw324@gmail.comAbstract: Obstructive sleep apnea (OSA) has been reported to influence the ocular surface and may lead to dry eye disease (DED). Continuous positive airway pressure (CPAP) is the first-line conservative treatment for OSA. However, CPAP might also have mask-related side effects that could deteriorate DED simultaneously. This study investigated the impact of OSA on DED (Aim 1), and CPAP on DED (Aim 2). Five databases were searched for articles published up to May, 2024. OSA severity, CPAP usage, and DED parameters, including tear breakup time (TBUT), Schirmer test, Ocular Surface Disease Index (OSDI), and Corneal Fluorescence Staining Score (CFS), were analyzed. For Aim 1, the random-effects model was used for meta-analysis, and the leave-one-out method was used for sensitivity analysis. For Aim 2, a narrative synthesis with critical appraisal of the literature was performed. Eleven studies with 1,526 patients for Aim 1 and three studies with 180 patients for Aim 2 were included. For Aim 1, OSA patients had poorer dry eye profiles of TBUT, Schirmer test, and OSDI when compared to non-OSA patients. For Aim 2, it seemed that those wearing CPAP for less than half a year did not have enough improvement in dry eye status. Instead, those wearing CPAP for at least a year reached greater therapeutic effects for OSA and DED. We concluded that OSA patients may suffer from poorer dry eye condition compared to non-OSA patients. Besides, wearing CPAP for long enough duration (at least 1 year) seemed to have better improvement in DED.Keywords: Obstructive sleep apnea, continuous positive airway pressure, dry eye disease, meta-analysis
Jean-Louis Pepin,1,* Nhat-Nam Le-Dong,2,* Valérie Cuthbert,3 Nathalie Coumans,3 Renaud Tamisier,1 Atul Malhotra,4 Jean-Benoit Martinot3,5 1HP2 Laboratory, Inserm U1300, University Grenoble Alpes, Grenoble, France; 2Sunrise, Namur, Belgium; 3Sleep Laboratory, CHU Université Catholique de Louvain (UCL) Namur Site Sainte-Elisabeth, Namur, Belgium; 4University of California San Diego, La Jolla, CA, USA; 5Institute of Experimental and Clinical Research, UCL Bruxelles Woluwe, Brussels, Belgium*These authors contributed equally to this workCorrespondence: Jean-Benoit Martinot, Centre du Sommeil et de la Vigilance, CHU-UCL Namur Site Ste Elisabeth, 15 Place Louise Godin, Namur, 5000, Belgium, Tel +32 495502608, Fax +32 81570754, Email martinot.j@respisom.bePurpose: Differentiation between obstructive and central apneas and hypopneas requires quantitative measurement of respiratory effort (RE) using esophageal pressure (PES), which is rarely implemented. This study investigated whether the sleep mandibular movements (MM) signal recorded with a tri-axial gyroscopic chin sensor (Sunrise, Namur, Belgium) is a reliable surrogate of PES in patients with suspected obstructive sleep apnea (OSA).Patients and Methods: In-laboratory polysomnography (PSG) with PES and concurrent MM monitoring was performed. PSGs were scored manually using AASM 2012 rules. Data blocks (n=8042) were randomly sampled during normal breathing (NB), obstructive or central apnea/hypopnea (OA/OH/CA/CH), respiratory effort-related arousal (RERA), and mixed apnea (MxA). Analyses were evaluation of the similarity and linear correlation between PES and MM using the longest common subsequence (LCSS) algorithm and Pearson’s coefficient; description of signal amplitudes; estimation of the marginal effect for crossing from NB to a respiratory disturbance for a given change in MM signal using a mixed linear-regression.Results: Participants (n=38) had mild to severe OSA (median AH index 28.9/h; median arousal index 23.2/h). MM showed a high level of synchronization with concurrent PES signals. Distribution of MM amplitude differed significantly between event types: median (95% confidence interval) values of 0.60 (0.16– 2.43) for CA, 0.83 (0.23– 4.71) for CH, 1.93 (0.46– 12.43) for MxA, 3.23 (0.72– 18.09) for OH, and 6.42 (0.88– 26.81) for OA. Mixed regression indicated that crossing from NB to central events would decrease MM signal amplitude by – 1.23 (CH) and – 2.04 (CA) units, while obstructive events would increase MM amplitude by +3.27 (OH) and +6.79 (OA) units (all p< 10− 6).Conclusion: In OSA patients, MM signals facilitated the measurement of specific levels of RE associated with obstructive, central or mixed apneas and/or hypopneas. A high degree of similarity was observed with the PES gold-standard signal.Keywords: obstructive sleep apnea, respiratory effort, mandibular movements, esophageal pressure
Autoimmune encephalitis refers to a spectrum of inflammatory brain diseases which can present as drug-resistant seizures in children. Hereby, we report a case of anti-GAD-65 antibody encephalitis in a 7-year-old child who presented with superrefractory status epilepticus (SRSE). The traditional management with multiple anti-seizure medications at appropriate dosage and immunotherapy was tried despite which the child continued to have seizures. Hence the child was initiated on a classic ketogenic diet. He achieved ketosis within 48 h of diet initiation and there was a drastic reduction in the seizure frequency followed by a completed remission. Hence, this non-pharmacological intervention was an effective adjunct in achieving seizure control in our patient. A ketogenic diet has been sparingly used for the management of post-encephalitic epilepsy and autoimmune epilepsy. However, the data onthe effectiveness of the ketogenic diet in the management of autoimmune encephalitis is scarce. Starting KD early in the disease course helped not only in seizure control but also preserved the cognitive and neurological well-being of the child.
Neurology. Diseases of the nervous system, Neurophysiology and neuropsychology
Mojgan Shokrolahi, Seyed Esmaeil Hashemi, Mahnaz Mehrabizadeh Honarmand
et al.
Aim and Background: Chronic pain is one of the most common and expensive medical problems. The aim of this study was to compare the effectiveness of emotion focused therapy and cognitive analytic therapy on anxiety sensitivity, pain catastrophizing, experiential avoidance and cognitive emotion regulation in patients with chronic pain and alexithymia.
Methods and Materials: This research was experiential study with pre, post-test and follow-up with control group. Among patients suffering from chronic in Isfahan, using available and voluntary sampling method, 36 patients that had top point in alexithymia questionnaire were selected and then were assigned in two groups randomly (each group n=12). Members of first experimental group, received online emotion-focused group therapy and members of second experimental group received online cognitive-analytic group therapy. In this period control group didn’t received any intervention. Instruments were Karnfeskesʼs Cognitive Emotion Regulation Questionnaire (2001), Solivanʼs Pain Catastrophizing Scale (1995), Taylor and Koksʼes Anxiety Sensitinty Inventort (1998), Acceptance and Action Questionaire (2011) that were completed in 3 stages of pre, post-rest and follow up. Data were analyzed using repeated measure analysis.
Findings: Reults showed that the emotion focused therapy has been more effective than the cognitive analytic therapy in improving pain catastrophizing, experiential avoidance and the negative aspect of cognitive emotion regulation (P<0.05).
Conclusions: With respect to the effectiveness of these two therapeutic methods on the research variables, these two therapeutic methods can be sought so as to improve the conditions of the patients with chronic pain and alexithymia.
Martínez-Lezaun I, Santamaría-Vázquez M, Del Líbano M
Iratxe Martínez-Lezaun, 1 Montserrat Santamaría-Vázquez, 1 Mario Del Líbano 2 1Health Sciences Department, Universidad de Burgos, Burgos, Spain; 2Education Sciences Department, Universidad de Burgos, Burgos, SpainCorrespondence: Montserrat Santamaría-VázquezHealth Sciences Department, Universidad de Burgos, Paseo Comendadores s/n, Burgos, 09001, SpainTel + 34 947 109541Email msvazquez@ubu.esDear editor
We are pleased our work has sparked discussion and we would like to thank the opportunity to answer the main questions raised by Zakariya and Low. 1Concerning the first question raised about to include lifestyle factors as a variable that could play a role in the deterioration of the sleep quality, we agree with Zakariya and Low that these kind of variables would have been interesting to study. We will consider them in future investigations that we will carry out such as assessing daily consumption of caffeine, tobacco or alcohol, as well as other nonlegal drugs that can also affect sleep and that students may consume.Regarding the suggestion to use a more homogeneous sample in terms of course in future studies, we agree that there may be differences in the quality of sleep related to students’ academic commitments depending on the year of study. However, we believe it is preferable to increase the sample of participants in each course and control its effect on results, rather than focusing on just one of them.
View the original paper by Martínez-Lezaun and colleagues.
This is in response to the Letter to the Editor
Abstract Background Psychiatrists were surveyed to obtain an overview of how they currently use technology in clinical practice, with a focus on psychiatrists who treat patients with bipolar disorder. Methods Data were obtained using an online-only survey containing 46 questions, completed by a convenience sample of 209 psychiatrists in 19 countries. Descriptive statistics, and analyses of linear associations and to remove country heterogeneity were calculated. Results Virtually all psychiatrists seek information online with many benefits, but some experience information overload. 75.2% of psychiatrists use an EMR/EHR at work, and 64.6% communicate with patients using a new technology, primarily email (48.8%). 66.0% do not ask patients if they use the Internet in relation to bipolar disorder. 67.3% of psychiatrists feel it is too early to tell if patient online information seeking about bipolar disorder is improving the quality of care. 66.3% of psychiatrists think technology-based treatments will improve the quality of care for some or many patients. However, 60.0% of psychiatrists do not recommend technology-based treatments to patients, and those who recommend select a variety of treatments. Psychiatrists use technology more frequently when the patients live in urban rather than rural or suburban areas. Only 23.9% of psychiatrists have any formal training in technology. Conclusions Digital technology is routinely used by psychiatrists in clinical practice. There is near unanimous agreement about the benefits of psychiatrist online information-seeking, but research on information overload is needed. There is less agreement about the appropriate use of other clinical technologies, especially those involving patients. It is too early to tell if technology-based treatments or patient Internet activities will improve the quality of care. The digital divide remains between use of technology for psychiatrists with patients living in urban and rural or suburban areas. Psychiatrists need more formal training in technology to understand risks, benefits and limitations of clinical products.
Neurosciences. Biological psychiatry. Neuropsychiatry, Neurophysiology and neuropsychology
Padideh Nasseri, Alexandra Ycaza Herrera, Katherine Gillette
et al.
Hormonal contraceptives (HCs) affect various processes related to emotion processing, including emotional memory, fear extinction, and the cortisol response to stress. Despite the modulating role of HCs on the stress response in women and variance in synthetic hormone levels across the HC cycle, little is known about the phase-related effects of HCs on the brain's response to stress. We investigated the effect of HC cycle phase on functional connectivity of memory- and emotion-related regions at rest after exposure to a stressor. Twenty HC users completed two sessions of resting-state functional magnetic resonance imaging after exposure to the cold pressor test, one during the hormone-present HC phase (when synthetic hormones are taken) and one during the hormone-absent HC phase (when synthetic hormones are not taken). Women showed higher functional connectivity between left amygdala and ventromedial prefrontal cortex during the hormone-present phase. During the hormone-absent phase, women showed higher coupling between left parahippocampus and right superior lateral occipital cortex. Our results suggest that the synthetic hormones contained in HCs may protect against the negative effects of stress on functional connectivity of emotional processing regions.
Neurosciences. Biological psychiatry. Neuropsychiatry, Neurology. Diseases of the nervous system
Louis Martí, Francis Mollica, Steven Piantadosi
et al.
Prior research has yielded mixed findings on whether learners’ certainty reflects veridical probabilities from observed evidence. We compared predictions from an idealized model of learning to humans’ subjective reports of certainty during a Boolean concept-learning task in order to examine subjective certainty over the course of abstract, logical concept learning. Our analysis evaluated theoretically motivated potential predictors of certainty to determine how well each predicted participants’ subjective reports of certainty. Regression analyses that controlled for individual differences demonstrated that despite learning curves tracking the ideal learning models, reported certainty was best explained by performance rather than measures derived from a learning model. In particular, participants’ confidence was driven primarily by how well they observed themselves doing, not by idealized statistical inferences made from the data they observed.
Consciousness. Cognition, Neurophysiology and neuropsychology
Leonid O. Bryzgalov, Elena E. Korbolina, Ilja I. Brusentsov
et al.
Abstract Background A challenge of understanding the mechanisms underlying cognition including neurodevelopmental and neuropsychiatric disorders is mainly given by the potential severity of cognitive disorders for the quality of life and their prevalence. However, the field has been focused predominantly on protein coding variation until recently. Given the importance of tightly controlled gene expression for normal brain function, the goal of the study was to assess the functional variation including non-coding variation in human genome that is likely to play an important role in cognitive functions. To this end, we organized and utilized available genome-wide datasets from genomic, transcriptomic and association studies into a comprehensive data corpus. We focused on genomic regions that are enriched in regulatory activity—overlapping transcriptional factor binding regions and repurpose our data collection especially for identification of the regulatory SNPs (rSNPs) that showed associations both with allele-specific binding and allele-specific expression. We matched these rSNPs to the nearby and distant targeted genes and then selected the variants that could implicate the etiology of cognitive disorders according to Genome-Wide Association Studies (GWAS). Next, we use DeSeq 2.0 package to test the differences in the expression of the certain targeted genes between the controls and the patients that were diagnosed bipolar affective disorder and schizophrenia. Finally, we assess the potential biological role for identified drivers of cognition using DAVID and GeneMANIA. Results As a result, we selected fourteen regulatory SNPs locating within the loci, implicated from GWAS for cognitive disorders with six of the variants unreported previously. Grouping of the targeted genes according to biological functions revealed the involvement of processes such as ‘posttranscriptional regulation of gene expression’, ‘neuron differentiation’, ‘neuron projection development’, ‘regulation of cell cycle process’ and ‘protein catabolic processes’. We identified four rSNP-targeted genes that showed differential expression between patient and control groups depending on brain region: NRAS—in schizophrenia cohort, CDC25B, DDX21 and NUCKS1—in bipolar disorder cohort. Conclusions Overall, our findings are likely to provide the keys for unraveling the mechanisms that underlie cognitive functions including major depressive disorder, bipolar disorder and schizophrenia etiopathogenesis.
Neurosciences. Biological psychiatry. Neuropsychiatry, Neurophysiology and neuropsychology
Abstract Background Relatively little is known about the onset of bipolar disorder, yet the early illness course is already associated with significant morbidity and mortality. Therefore, characterizing the bipolar illness trajectory is key to risk prediction and early intervention advancement. Main body In this narrative review, we discuss key findings from prospective longitudinal studies of the high-risk offspring of bipolar parents and related meta-analyses that inform us about the clinical trajectory of emerging bipolar disorder. Challenges such as phenotypic and etiologic heterogeneity and the non-specificity of early symptoms and syndromes are highlighted. Implications of the findings for both research and clinical practice are discussed. Conclusion Bipolar disorder in young people at familial risk does not typically onset with a hypomanic or manic episode. Rather the first activated episode is often preceded by years of impairing psychopathological states that vary over development and across emerging bipolar subtype. Taking heterogeneity into account and adopting a more comprehensive approach to diagnosis seems necessary to advance earlier identification and our understanding of the onset of bipolar disorder.
Neurosciences. Biological psychiatry. Neuropsychiatry, Neurophysiology and neuropsychology
Peterson K. Rachel, Noggle A. Chad, Shahani Lokesh
et al.
Debate persists regarding the occurrence and etiology of neurocognitive deficits associated with the utilization of chemotherapeutic agents, commonly referred to as “chemobrain”. While some have previously attributed these features to other factors such as fatigue, emotional reactivity, etc., growing literature suggests that in fact chemotherapeutic agents may be the cause. Although research has investigated these deficits, greater investigation is warranted. The current study investigated the presence of residual neurocognitive deficits in non-depressed patients post-chemotherapy with a history of leukemia that was in remission in comparison to healthy controls.
Methods: participants included 16 individuals with a history of leukemia post-chemotherapy, in remission and without depression and 48 healthy controls. Participants were assessed using the WJ-III with data from the first seven subtests entered for analysis. A multivariate analysis of variance revealed significant differences existed between groups. By way of a discriminant function analysis, subtest/domain specific discrepancies were noted. Specifically, participants with a history of leukemia who were post-chemotherapy and without depression were found to perform significantly worse on visual-auditory learning, concept formations, and sound blending than did healthy controls. Findings are seen as additional support of the idea that neurocognitive deficits do in fact occur following chemotherapy. However, they are particularly of interest as they are seen even in the absence of emotional distress and outside the active treatment phase. Additional findings of importance and clinical relevance will be discussed.
Neurosciences. Biological psychiatry. Neuropsychiatry, Neurophysiology and neuropsychology
Barbara Schwerdtle,1 Julia Kanis,1 Lena Kahl,1 Andrea K&uuml;bler,1,2 Angelika A Schlarb3,41Institute of Psychology, Department of Psychology I, University of W&uuml;rzburg, W&uuml;rzburg, 2Institute of Medical Psychology and Behavioral Neurobiology, 3Faculty of Science, Clinical and Developmental Psychology, University of T&uuml;bingen, T&uuml;bingen, 4Department of Clinical Psychology and Psychotherapy, University of Koblenz-Landau, Landau, GermanyBackground: A solid diagnosis of sleep disorders in children should include both self-ratings and parent ratings. However, there are few standardized self-assessment instruments to meet this need. The Children&rsquo;s Sleep Comic is an adapted version of the unpublished German questionnaire &ldquo;Freiburger Kinderschlafcomic&rdquo; and provides pictures for items and responses. Because the drawings were outdated and allowed only for qualitative analysis, we revised the comic, tested its applicability in a target sample, and suggest a procedure for quantitative analysis.Methods: All items were updated and pictures were newly drawn. We used a sample of 201 children aged 5&ndash;10 years to test the applicability of the Children&rsquo;s Sleep Comic in young children and to run a preliminary analysis.Results: The Children&rsquo;s Sleep Comic comprises 37 items covering relevant aspects of sleep disorders in children. Application took on average 30 minutes. The procedure was well accepted by the children, as reflected by the absence of any dropouts. First comparisons with established questionnaires indicated moderate correlations.Conclusion: The Children&rsquo;s Sleep Comic is appropriate for screening sleep behavior and sleep problems in children. The interactive procedure can foster a good relationship between the investigator and the child, and thus establish the basis for successful intervention if necessary.Keywords: children, sleep, sleep disorders, diagnostic, assessment, self-rating