Schizophrenia is a common disorder with a high heritability, but its genetic architecture is still elusive.We implemented whole-genome sequencing(WGS) analysis of 8 families with monozygotic(MZ) twin pairs discordant ...Schizophrenia is a common disorder with a high heritability, but its genetic architecture is still elusive.We implemented whole-genome sequencing(WGS) analysis of 8 families with monozygotic(MZ) twin pairs discordant for schizophrenia to assess potential association of de novo mutations(DNMs) or inherited variants with susceptibility to schizophrenia. Eight non-synonymous DNMs(including one splicing site) were identified and shared by twins, which were either located in previously reported schizophrenia risk genes(p.V24689 I mutation in TTN, p.S2506 T mutation in GCN1L1, IVS3+1G > T in DOCK1) or had a benign to damaging effect according to in silico prediction analysis. By searching the inherited rare damaging or loss-of-function(LOF) variants and common susceptible alleles from three classes of schizophrenia candidate genes, we were able to distill genetic alterations in several schizophrenia risk genes, including GAD1, PLXNA2, RELN and FEZ1. Four inherited copy number variations(CNVs; including a large deletion at 16p13.11) implicated for schizophrenia were identified in four families, respectively. Most of families carried both missense DNMs and inherited risk variants, which might suggest that DNMs, inherited rare damaging variants and common risk alleles together conferred to schizophrenia susceptibility. Our results support that schizophrenia is caused by a combination of multiple genetic factors, with each DNM/variant showing a relatively small effect size.展开更多
Purpose:This study aimed to investigate the construct of external visual imagery(EVI)vs.internal visual imagery(IV/)by comparing the athletes'imagery ability with their levels of skill and types of sports.Methods:...Purpose:This study aimed to investigate the construct of external visual imagery(EVI)vs.internal visual imagery(IV/)by comparing the athletes'imagery ability with their levels of skill and types of sports.Methods:Seventy-two young athletes in open(n=45)or closed(n=27)sports and with different skill levels completed 2 custom-designed tasks.The EVI task involved the subject generating and visualizing the rotated images of different body parts,whereas the IVI task involved the subject visualizing himself or herself performing specific movements.Results:The significant Skill-Level x Sport Type interactions for the EVI task revealed that participants who specialized in open sports and had higher skill-levels had a higher accuracy rate as compared to the other subgroups.For the IVI task,the differences between the groups were less clear:those with higher skill-levels or open sports had a higher accuracy rate than those with lower skill-levels or closed sports.Conclusion:EVI involves the visualization of others and the environment,and would be relevant to higher skill-level athletes who engage in open sports.IVI,in contrast,tends to be more self-oriented and would be relevant for utilization by higher skill-level athletes regardless of sport type.展开更多
Increasing efforts to identify alternate expressions of neuropsychiatric disorders that are broader than the DSM or ICD diagnostic criteria needed to diagnose them reflects a growing consensus that multidimensional ex...Increasing efforts to identify alternate expressions of neuropsychiatric disorders that are broader than the DSM or ICD diagnostic criteria needed to diagnose them reflects a growing consensus that multidimensional expressions of neuropsychiatric disorders may advance the search for underlying etiological or modulatory factors. Endophenotypic research can be considered to be one of the most promising strategies to bridge the gap between genomic complexity and the phenotypic heterogeneity observed in neuropsychiatric disorders. However, the majority of endophenotype studies were limited to our western counterparts, very little has been done and initiated by scholars in China's Mainland. In this paper, we urge the need to establish a potential central consortium for endophenotypes to study neuropsychiatric disorders in China's Mainland. In particular, we illustrate a potential example of neurological soft signs in following the steps for building the consortium.展开更多
The study of endophenotypes may be a viable strategy to tackle the genetic complexity and phenotypic heterogeneity of psychosis, but this research direction is relatively under-developed in China as compared to Wester...The study of endophenotypes may be a viable strategy to tackle the genetic complexity and phenotypic heterogeneity of psychosis, but this research direction is relatively under-developed in China as compared to Western countries. We have recently initiated one of the first family studies of endophenotypes for psychosis in China. Patients entering an established early psychosis intervention service are recruited into this research project for phenotyping, endophenotyping and genotyping. At the endophenotypic level, four domains (neurological soft signs, neurocognition of prospective memory, social cognition of facial emotion recognition, and affective cognition of anticipatory and consummatory pleasure) are studied in the sample of patients with psychosis and their unaffected siblings. This article illustrates the benefit of a research-oriented clinical programme and its findings based on the data collected as of early 2011.展开更多
The term "neurodevelopmental disorder" broadly encompasses conditions thought to arise early in development and includes schizophrenia, bipolar disorder and autism among others. These conditions share a numb...The term "neurodevelopmental disorder" broadly encompasses conditions thought to arise early in development and includes schizophrenia, bipolar disorder and autism among others. These conditions share a number of genetic and environmental risk factors postulated to lead to common difficulties in socio-emotional processing, communication and cognitive function. The alternative position is that, while the same traits are affected across these conditions, the nature or direction in which they are modified may be distinct. MRI studies provide a rapidly expanding and rich database which we propose can be used to contribute to this debate. Anatomical likelihood estimation (ALE) is a method of meta-analysis applied to voxel-based MRI studies. We have adapted this method to explore the extent to which schizophrenia and bipolar disorder and schizophrenia and autism share a common brain structural phenotype. We will review this work here and discuss whether there is sufficient other evidence to justify a common framework for further research into the inter-relatedness of such conditions.展开更多
Approximately 60% of subjects with schizophrenia present minor neurological signs (neurological soft signs, NSS), which include abnormalities in sensory and motor performance indicative of a non-specific cerebral dysf...Approximately 60% of subjects with schizophrenia present minor neurological signs (neurological soft signs, NSS), which include abnormalities in sensory and motor performance indicative of a non-specific cerebral dysfunction. These are also present in healthy individuals and relatives of patients with psychosis, at significantly lower rates. The excess of NSS in psychosis may be a potential endophenotype for this disorder, and reflect the same neurodevelopmental brain dysfunction that also underlies the cognitive deficits consistently reported in psychosis. To establish whether neurological and cognitive dysfunction meet the essential criterion required for a refined endophenotype for psychosis, the association with the illness, we explored evidence that certain neurological and cognitive deficits co-occur in affected individuals. This evidence suggests that signs of motor dysfunctions may be specific to patients with psychosis, in whom they are associated with dysfunction in cognitive tasks requiring motor skills. Thus, they may form a promising candidate endophenotype for psychosis.展开更多
The identification of genes that contribute to the susceptibilities to complex neuropsychiatric disorders such as schizophrenia, major depression and bipolar disorders has not been as successful using conventional gen...The identification of genes that contribute to the susceptibilities to complex neuropsychiatric disorders such as schizophrenia, major depression and bipolar disorders has not been as successful using conventional genetic approaches as had been hoped. There are several problems associated with the conventional approaches, including the validity of psychiatric diagnosis itself, excluding carriers of relevant genes who cannot be identified in the absence of manifest symptoms, and the heterogeneity展开更多
Event-related potentials (ERPs) were used in this study to investigate the neural correlates of prospective memory (PM) and vigilance. Twenty college or graduate students participated in this study. They were administ...Event-related potentials (ERPs) were used in this study to investigate the neural correlates of prospective memory (PM) and vigilance. Twenty college or graduate students participated in this study. They were administered a PM and a vigilance task and physiological data were collected at the same time. Behavioral results showed that the RT associated with PM cues was longer than those associated with vigilance targets. ERP results showed that PM cues and vigilance targets did not show significant difference in the N2 but PM cues evoked greater N300 than vigilance targets, and vigilance targets evoked greater parietal positivity/P3 than PM cues, suggesting vigilance and PM have similar but also distinctive neural basis.展开更多
MENTAL HEALTH DURING COVID-19 The COVID-19 pandemic has had a substantial impact on mental health not only in the general population but also in specific groups such as university students.^(1,2)For example,the preval...MENTAL HEALTH DURING COVID-19 The COVID-19 pandemic has had a substantial impact on mental health not only in the general population but also in specific groups such as university students.^(1,2)For example,the prevalence of depression and anxiety increased,and sleep quality and quality of life worsened compared with prepandemic levels.Additionally,the pandemic has disrupted work schedules and affected working time among scientists.^(3)Moreover,the pandemic has had a greater impact on females and younger individuals.^(3)Despite the known effects on these groups,the impact of the pandemic on the mental health of scientists and researchers has received less attention.Scientists working in a competitive environment often experienced pressure even prior to the outbreak of the pandemic.展开更多
基金supported by the Strategic Priority Research Program (B) of the Chinese Academy of Sciences (XDB02020003 and XDB02030002)the Bureau of Frontier Sciences and Education,Chinese Academy of Sciences (QYZDJ-SSW-SMC005)+3 种基金the National Natural Science Foundation of China (Nos. 81088001,81271484,81471361 and 81371480)the Beijing Training Project for the Leading Talents in S & T (Z151100000315020)the National Key Basic Research and Development Program (973) (2012CB517904)the CAS/SAFEA International Partnership Programme for Creative Research Teams (Y2CX131003)
文摘Schizophrenia is a common disorder with a high heritability, but its genetic architecture is still elusive.We implemented whole-genome sequencing(WGS) analysis of 8 families with monozygotic(MZ) twin pairs discordant for schizophrenia to assess potential association of de novo mutations(DNMs) or inherited variants with susceptibility to schizophrenia. Eight non-synonymous DNMs(including one splicing site) were identified and shared by twins, which were either located in previously reported schizophrenia risk genes(p.V24689 I mutation in TTN, p.S2506 T mutation in GCN1L1, IVS3+1G > T in DOCK1) or had a benign to damaging effect according to in silico prediction analysis. By searching the inherited rare damaging or loss-of-function(LOF) variants and common susceptible alleles from three classes of schizophrenia candidate genes, we were able to distill genetic alterations in several schizophrenia risk genes, including GAD1, PLXNA2, RELN and FEZ1. Four inherited copy number variations(CNVs; including a large deletion at 16p13.11) implicated for schizophrenia were identified in four families, respectively. Most of families carried both missense DNMs and inherited risk variants, which might suggest that DNMs, inherited rare damaging variants and common risk alleles together conferred to schizophrenia susceptibility. Our results support that schizophrenia is caused by a combination of multiple genetic factors, with each DNM/variant showing a relatively small effect size.
基金supported in part by the National Science Fund China(81571317)the Science Foundation of Shanghai Mental Health Center(SMHCRSD01)+1 种基金the Beijing Training Project for the Leading Talents in S&T(Z151100000315020)a grant from the Beijing Municipal Science&Technology Commission Grant(Z161100000216138)
文摘背景:精神分裂症存在情感体验和表达障碍。然而,大多数以往研究往往只局限于情感体验(尤其是快感缺乏)或只针对表达。较少有同时研究精神分裂症患者情感体验和表达。目的 :本研究旨在考察精神分裂症患者的快感体验和情感表达。尤其是,特别关注精神分裂症患者的情感障碍(包括快感体验和表达)和阴性症状之间的关系。方法 :150例患者完成了愉快情绪体验量表(Temporal Experience of Pleasure Scale)和情感表达量表(Emotional Expressivity Scale)的评估。结果 :精神分裂症患者表现出快感缺乏,但情感表达的能力完整。以阴性症状为主的精神分裂症患者在期待性愉快体验,尤其是抽象性期待愉快体验上的缺损更为明显结论:研究结果表明,精神分裂症患者存在出快感缺乏,但他们表达情感的能力似乎完好无损。快感缺乏尤以阴性症状为主的精神分裂症患者更为突出。
基金supported by the Dr.and Mrs.Sui Kau Chan donation grant for sports training and rehabilitation held by Chetwyn C.H.Chan and Amy S.N.Fuand by an internal grant awarded to Chetwyn C.H.Chan by The Hong Kong Polytechnic University
文摘Purpose:This study aimed to investigate the construct of external visual imagery(EVI)vs.internal visual imagery(IV/)by comparing the athletes'imagery ability with their levels of skill and types of sports.Methods:Seventy-two young athletes in open(n=45)or closed(n=27)sports and with different skill levels completed 2 custom-designed tasks.The EVI task involved the subject generating and visualizing the rotated images of different body parts,whereas the IVI task involved the subject visualizing himself or herself performing specific movements.Results:The significant Skill-Level x Sport Type interactions for the EVI task revealed that participants who specialized in open sports and had higher skill-levels had a higher accuracy rate as compared to the other subgroups.For the IVI task,the differences between the groups were less clear:those with higher skill-levels or open sports had a higher accuracy rate than those with lower skill-levels or closed sports.Conclusion:EVI involves the visualization of others and the environment,and would be relevant to higher skill-level athletes who engage in open sports.IVI,in contrast,tends to be more self-oriented and would be relevant for utilization by higher skill-level athletes regardless of sport type.
基金supported partially by the Key Laboratory of Mental Health,Institute of Psychology, Project-Oriented Hundred Talents Programme (O7CX031003)the Knowledge Innovation Project of the Chinese Academy of Sciences (KSCX2-YW-R-131)+2 种基金National Natural Science Foundation of China (30770723)National Outstanding Young Investigator Award (81088001)a grant from National Basic Research Programme of China (973 Program) (2007CB512302)
文摘Increasing efforts to identify alternate expressions of neuropsychiatric disorders that are broader than the DSM or ICD diagnostic criteria needed to diagnose them reflects a growing consensus that multidimensional expressions of neuropsychiatric disorders may advance the search for underlying etiological or modulatory factors. Endophenotypic research can be considered to be one of the most promising strategies to bridge the gap between genomic complexity and the phenotypic heterogeneity observed in neuropsychiatric disorders. However, the majority of endophenotype studies were limited to our western counterparts, very little has been done and initiated by scholars in China's Mainland. In this paper, we urge the need to establish a potential central consortium for endophenotypes to study neuropsychiatric disorders in China's Mainland. In particular, we illustrate a potential example of neurological soft signs in following the steps for building the consortium.
基金supported by the Project-Oriented Hundred Talents Programme (O7CX031003)the Knowledge Innovation Project of the Chinese Academy of Sciences (KSCX2-YW-R-131, KSCX2-EW-J-8)a grant from the National Science Fund for Distinguished Young Scholars(81088001) to Raymond Chan
文摘The study of endophenotypes may be a viable strategy to tackle the genetic complexity and phenotypic heterogeneity of psychosis, but this research direction is relatively under-developed in China as compared to Western countries. We have recently initiated one of the first family studies of endophenotypes for psychosis in China. Patients entering an established early psychosis intervention service are recruited into this research project for phenotyping, endophenotyping and genotyping. At the endophenotypic level, four domains (neurological soft signs, neurocognition of prospective memory, social cognition of facial emotion recognition, and affective cognition of anticipatory and consummatory pleasure) are studied in the sample of patients with psychosis and their unaffected siblings. This article illustrates the benefit of a research-oriented clinical programme and its findings based on the data collected as of early 2011.
基金The Autism Research Group in the Department of Psychiatry University of Hong Kong is grateful for donation funding from ING Asia/Pacific
文摘The term "neurodevelopmental disorder" broadly encompasses conditions thought to arise early in development and includes schizophrenia, bipolar disorder and autism among others. These conditions share a number of genetic and environmental risk factors postulated to lead to common difficulties in socio-emotional processing, communication and cognitive function. The alternative position is that, while the same traits are affected across these conditions, the nature or direction in which they are modified may be distinct. MRI studies provide a rapidly expanding and rich database which we propose can be used to contribute to this debate. Anatomical likelihood estimation (ALE) is a method of meta-analysis applied to voxel-based MRI studies. We have adapted this method to explore the extent to which schizophrenia and bipolar disorder and schizophrenia and autism share a common brain structural phenotype. We will review this work here and discuss whether there is sufficient other evidence to justify a common framework for further research into the inter-relatedness of such conditions.
基金supported by the BIAL Foundation, a NARSAD Young Investigator Award, and a NARSAD Independent Investigator Award to Dr. P. DazzanThe Project-Oriented Hundred Talents Programme (O7CX031003)+2 种基金the Knowledge Innovation Project of the Chinese Academy of Sciences (KSCX2-YW-R-131, KSCX2-EW-J-8)a grant from the National Basic Research Program of China (2007CB512302)the National Science Fund for Distinguished Young Scholars (81088001) to Prof. R.C.K Chan
文摘Approximately 60% of subjects with schizophrenia present minor neurological signs (neurological soft signs, NSS), which include abnormalities in sensory and motor performance indicative of a non-specific cerebral dysfunction. These are also present in healthy individuals and relatives of patients with psychosis, at significantly lower rates. The excess of NSS in psychosis may be a potential endophenotype for this disorder, and reflect the same neurodevelopmental brain dysfunction that also underlies the cognitive deficits consistently reported in psychosis. To establish whether neurological and cognitive dysfunction meet the essential criterion required for a refined endophenotype for psychosis, the association with the illness, we explored evidence that certain neurological and cognitive deficits co-occur in affected individuals. This evidence suggests that signs of motor dysfunctions may be specific to patients with psychosis, in whom they are associated with dysfunction in cognitive tasks requiring motor skills. Thus, they may form a promising candidate endophenotype for psychosis.
文摘The identification of genes that contribute to the susceptibilities to complex neuropsychiatric disorders such as schizophrenia, major depression and bipolar disorders has not been as successful using conventional genetic approaches as had been hoped. There are several problems associated with the conventional approaches, including the validity of psychiatric diagnosis itself, excluding carriers of relevant genes who cannot be identified in the absence of manifest symptoms, and the heterogeneity
基金supported by the Young Investigator Scientific Fund ofInstitute of Psychology, Chinese Academy of Sciences (O9CX073007)the National Key Technologies R&D Program (2012BAI36B01)+2 种基金the National Natural Science Foundation of China (30900403, 91132701, 30770723,81088001)Youth Innovation Promotion Association Funding of Chinese Academy of Sciences (Y1CX131003)Key Laboratory of Mental Health,Institute of Psychology, Chinese Academy of Sciences and the Knowledge Innovation Project of the Chinese Academy of Sciences (KSCX2-EW-J-8)
文摘Event-related potentials (ERPs) were used in this study to investigate the neural correlates of prospective memory (PM) and vigilance. Twenty college or graduate students participated in this study. They were administered a PM and a vigilance task and physiological data were collected at the same time. Behavioral results showed that the RT associated with PM cues was longer than those associated with vigilance targets. ERP results showed that PM cues and vigilance targets did not show significant difference in the N2 but PM cues evoked greater N300 than vigilance targets, and vigilance targets evoked greater parietal positivity/P3 than PM cues, suggesting vigilance and PM have similar but also distinctive neural basis.
文摘MENTAL HEALTH DURING COVID-19 The COVID-19 pandemic has had a substantial impact on mental health not only in the general population but also in specific groups such as university students.^(1,2)For example,the prevalence of depression and anxiety increased,and sleep quality and quality of life worsened compared with prepandemic levels.Additionally,the pandemic has disrupted work schedules and affected working time among scientists.^(3)Moreover,the pandemic has had a greater impact on females and younger individuals.^(3)Despite the known effects on these groups,the impact of the pandemic on the mental health of scientists and researchers has received less attention.Scientists working in a competitive environment often experienced pressure even prior to the outbreak of the pandemic.
