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1.
Neuropsychiatr Dis Treat ; 20: 877-884, 2024.
Article En | MEDLINE | ID: mdl-38645712

Background: Subjective social status influences anxiety, but at present, the mechanism is not fully understood. It has been reported that negative childhood experiences, such as abuse, can influence depressive symptoms through subjective social status and personality traits, such as self-esteem. A similar mechanism is presumed to underlie anxiety symptoms in adulthood. Therefore, we hypothesized that subjective social status and self-esteem are intermediate factors in the indirect effects of childhood abuse on state anxiety in adulthood, and analyzed the indirect effects via these factors using a path analysis. Subjects and Methods: Child Abuse and Trauma Scale, Subjective Social Status, Rosenberg Self-Esteem Scale, and State-Trait Anxiety Inventory Form Y questionnaires were administered in a self-report format to 404 adult volunteers from January 2014 to August 2014. In addition, a path analysis was conducted to determine whether subjective social status and self-esteem are associated with the indirect effects of childhood abuse on anxiety symptoms in adulthood. Results: Childhood abuse did not directly affect state anxiety in adulthood, but affected state anxiety via subjective social status and self-esteem. Subjective social status affected state anxiety via self-esteem. This model explained 25.2% of the variation in state anxiety in adult volunteers. Conclusion: The present study demonstrated that childhood abuse affects anxiety in adulthood through subjective social status and self-esteem. Therefore, interventions that enhance subjective social status and self-esteem for adults who experienced childhood abuse may help reduce their anxiety.

2.
Biopsychosoc Med ; 17(1): 26, 2023 Jul 24.
Article En | MEDLINE | ID: mdl-37488649

BACKGROUND: Previous studies reported that the experience of maltreatment in childhood reduces subjective well-being in adulthood and that neuroticism is negatively associated with subjective well-being. However, the interrelationship between childhood maltreatment, adult life events, neuroticism, and subjective well-being has not been analyzed to date. METHODS: A total of 404 adult volunteers provided responses to the following questionnaires: 1) Childhood Abuse and Trauma Scale, 2) Life Experiences Survey, 3) Neuroticism Subscale of the Shortened Eysenck Personality Questionnaire-Revised, and 4) Subjective Well-Being Inventory. The path model was used to analyze possible interrelationships among these parameters. RESULTS: The effect of childhood abuse on subjective well-being was indirect and was mediated by neuroticism. The effect of neuroticism on the negative, but not positive, change score on the Life Experiences Survey was significant. The indirect effect of neuroticism on subjective well-being was not significant via either negative or positive change scores. CONCLUSIONS: This study demonstrated that age, subjective social status, neuroticism, and negative and positive life events were significantly associated with subjective well-being. Furthermore, using path analysis, we demonstrated the mediating role of neuroticism in the indirect effect of childhood abuse on subjective well-being.

3.
PCN Rep ; 2(2): e94, 2023 Jun.
Article En | MEDLINE | ID: mdl-38868146

Aim: Bipolar disorder is a leading disorder contributing to global disease burden, and bipolar depression often becomes severe and refractory. Therefore, clarifying the pathophysiology of bipolar disorder is an urgent issue. Previous reports suggested that factors, such as affective temperaments and childhood maltreatment, aggravate bipolar depression severity. However, to our knowledge, no reports to date have clarified the interrelationship between the above factors and bipolar depression severity. We here hypothesized that childhood maltreatment worsens bipolar depression severity via increasing affective temperaments. To test this hypothesis, a covariance structural analysis was conducted. Methods: The following information was evaluated for a total of 75 people with bipolar disorder using self-administered questionnaires: demographic characteristics, depressive symptoms (Patient Health Questionnaire-9), history of childhood maltreatment (Child Abuse and Trauma Scale), and affective temperaments (Temperament Evaluation of Memphis, Pisa, Paris, and San Diego Autoquestionnaire). The results were analyzed using covariance structure analysis. Results: A significant indirect effect of childhood maltreatment on bipolar depression severity via increasing affective temperaments was identified, whereas the direct effect of childhood maltreatment was not significant. Conclusion: Our results reveal that affective temperaments can mediate the adverse effects of childhood maltreatment on the severity of bipolar depression.

4.
Biopsychosoc Med ; 16(1): 11, 2022 Apr 28.
Article En | MEDLINE | ID: mdl-35484626

BACKGROUND: About 3% to 8% of women of fertile age are thought to have premenstrual dysphoric disorder (PMDD), which is regarded as a serious form of premenstrual syndrome (PMS), although the details of this common condition remain unclear. The aim of this study was to analyze the interrelations of childhood maltreatment, personality traits, and life stress in the etiology of PMS/PMDD. METHODS: A total of 240 adult female volunteers from a community in Japan were investigated, using the following 5 questionnaires: Patient Health Quesstionaire-9, Child Abuse and Trauma Scale, Temperament and Character Inventory (TCI), Life Experiences Survey, and premenstrual dysphoric disorder (PMDD) scale. The questionnaire data were subjected to path analyses to clarify the association between childhood maltreatment and the severity of premenstrual symptoms, mediated by personality traits and life stress. RESULTS: The 2 path analysis models showed that high harm avoidance (HA) on the TCI and low self-directedness (SD) on the TCI had significant direct effects on the severity of premenstrual symptoms. Moreover, childhood maltreatment was associated with the severity of premenstrual symptoms, both directly and indirectly through personality traits. CONCLUSION: Our findings suggest that HA on the TCI might be a risk factor for severe premenstrual symptoms among general women and furthermore that SD on the TCI may be a protective factor. In addition, childhood maltreatment is associated with severe premenstrual symptoms both directly and indirectly through personality traits.

5.
Neuropsychiatr Dis Treat ; 18: 253-263, 2022.
Article En | MEDLINE | ID: mdl-35210773

BACKGROUND: When assessing patients with depressive and anxiety disorders in psychiatric clinical practice, it is common to encounter children and adolescents who have experienced abuse and victimization. To date, it has been clarified that experiences of "childhood abuse" and "childhood victimization" lead to "neuroticism", and that neuroticism leads to "adult depressive symptoms". In this study, we analyzed how these four factors are interrelated. SUBJECTS AND METHODS: The following self-administered questionnaire surveys were conducted in 576 adult volunteers: Patient Health Questionnaire-9, Eysenck Personality Questionnaire-revised shortened version, Child Abuse and Trauma Scale, and Childhood Victimization Rating Scale. For statistical analysis, Pearson correlation coefficient analysis, t-test, multiple regression analysis, and covariance structure analysis (path analysis) were performed. RESULTS: Path analysis showed that the indirect effects of childhood abuse and childhood victimization on depressive symptoms through neuroticism were statistically significant. In addition, the indirect effects of childhood abuse on neuroticism through childhood victimization were statistically significant. Finally, the indirect effects of childhood abuse on depressive symptoms through the combined paths of childhood victimization and neuroticism were statistically significant. CONCLUSION: Our results suggest that "childhood abuse (A)" induces changes in the personality trait of "neuroticism (C)" with "childhood victimization (B)" as a mediator, and that these adversities affect the expression of "depressive symptoms in adulthood (D)" through "neuroticism (C)" as a mediator. In other words, to our knowledge, this is the first study to clarify that these four factors are not only individually associated with each other but also cause a chain reaction of A to B to C to D.

6.
Front Psychiatry ; 13: 808918, 2022.
Article En | MEDLINE | ID: mdl-35211043

BACKGROUND: Given the high comorbidity and shared risk factors between depression and anxiety, whether they represent theoretically distinct disease entities or are just characteristics of a common negative affect dimension remains debated. Employing a data-driven and person-centered approach, the present study aims to identify meaningful and discrete symptom patterns of the occurrence of depression and anxiety. METHODS: Using data from an adult sample from the Japanese general population (n = 403, including 184 females, age = 42.28 ± 11.87 years), we applied latent class analysis to identify distinct symptom patterns of depression (PHQ-9) and anxiety (STAI Y1). To empirically validate the derived class memberships, we tested the association between the derived classes and personal profiles including childhood experiences, life events, and personality traits. RESULTS: The best-fitting solution had four distinct symptom patterns or classes. Whereas both Class 1 and 2 had high depression, Class 1 showed high anxiety due to high anxiety-present symptoms (e.g., "I feel nervous") while Class 2 showed moderate anxiety due to few anxiety-absent symptoms (e.g., "I feel calm"). Class 3 manifested mild anxiety symptoms due to lacking responses on anxiety-absent items. Class 4 manifested the least depressive and anxiety-present symptoms as well as the most anxiety-absent symptoms. Importantly, whereas both Class 1 and 2 had higher childhood neglect and reduced reward responsiveness, etc. compared to Class 4 (i.e., the most healthy class), only Class 1 had greater negative affect and reported more negative life events. CONCLUSIONS: To our knowledge, this is the first latent class analysis that examined the symptom patterns of depression and anxiety in Asian subjects. The classes we identified have distinct features that confirm their unique patterns of symptom endorsement. Our findings may provide insights into the etiology of depression, anxiety, and their comorbidity.

7.
Front Psychol ; 13: 1063637, 2022.
Article En | MEDLINE | ID: mdl-36605259

Background: Presenteeism, which is reduced productivity levels owing to physical or mental problems, causes substantial economic loss. It is known to be associated with personal and working environment factors, but the mechanism has not been fully clarified to date. Therefore, we analyzed the effects of childhood abuse on presenteeism of general adult workers, and the mediating effects of subjective social status and trait anxiety. Methods: From 2017 to 2018, a cross-sectional survey was performed, and 469 adult workers provided written consent. Demographic information, and results from the Child Abuse and Trauma Scale, Subjective Social Status, State-Trait Anxiety Inventory form Y, and Work Limitations Questionnaire were investigated. Multiple linear regression and path analyzes were performed. Results: Childhood abuse indirectly affected current presenteeism via subjective social status and trait anxiety. Presenteeism was directly affected only by trait anxiety, childhood abuse directly affected subjective social status and trait anxiety, and subjective social status affected trait anxiety. Conclusion: This study clarified the long-term effects of childhood abuse on presenteeism in adulthood via trait anxiety. Therefore, assessing childhood abuse, subjective social status, and trait anxiety may help to elucidate the mechanism of workplace presenteeism and develop measures against it.

8.
Neuropsychiatr Dis Treat ; 17: 3439-3445, 2021.
Article En | MEDLINE | ID: mdl-34848964

BACKGROUND: Several psychological studies have shown that depressive rumination is associated with the onset and severity of depression. However, it is unclear how rumination interacts with other predisposing factors to cause depression. In this study, we hypothesized that rumination mediates the association between depression and two predisposing factors of depression, ie, childhood maltreatment and trait anxiety. SUBJECTS AND METHODS: Between 2017 and 2018, 473 adult volunteers were surveyed using self-report questionnaires regarding the following: demographic information, rumination (Ruminative Responses Scale), trait anxiety (State-Trait Anxiety Inventory-Y), and the experience of childhood maltreatment (Child Abuse and Trauma Scale). The effects of these factors on depression (Patient Health Questionnaire-9) were analyzed by multiple regression and path analysis to analyze the mediating effects of rumination. This study was conducted with approval from the relevant ethics committee. RESULTS: Multiple regression analysis using depression as a dependent variable demonstrated that trait anxiety, rumination, childhood maltreatment, and living alone were significantly associated with depression. Path analysis showed that childhood maltreatment had a positive effect on trait anxiety, rumination, and depression; trait anxiety had a positive effect on rumination and depression; and rumination had a positive effect on depression. Regarding indirect effects, the experience of childhood maltreatment increased rumination and depression indirectly via trait anxiety. Furthermore, the experience of childhood maltreatment increased depression indirectly via rumination, and trait anxiety significantly increased depression via rumination. In other words, rumination mediated the indirect effects of abusive experiences and trait anxiety on depression. This model accounted for 50% of the variance in depression in adult volunteers. CONCLUSION: Our results suggest that rumination mediates the association between childhood maltreatment, trait anxiety, and depression in adulthood.

9.
Neuropsychiatr Dis Treat ; 17: 2757-2766, 2021.
Article En | MEDLINE | ID: mdl-34447251

BACKGROUND: Childhood maltreatment has long-lasting psychological effects, which often manifest in adulthood. Previous studies have suggested that the effects of childhood maltreatment are not only direct but also indirect, being mediated by other factors. In this study, we hypothesized that the effects of childhood maltreatment on state anxiety in adulthood are mediated by interpersonal sensitivity and the evaluation of life events, and investigated this possibility by covariance structure analysis. SUBJECTS AND METHODS: Self-administered questionnaires (Child Abuse and Trauma Scale, State-Trait Anxiety Inventory Form Y, Life Experiences Survey, and Interpersonal Sensitivity Measure) were distributed to adult community volunteers in Japan, and 404 eligible responses were collected. A structural equation model was constructed to analyze the direct and indirect effects of childhood maltreatment on state anxiety, with interpersonal sensitivity and the evaluation of life events as potential mediators. RESULTS: Our model showed that childhood maltreatment increases state anxiety in adulthood both directly and indirectly via interpersonal sensitivity. In addition, interpersonal sensitivity mediated the effects of childhood maltreatment on the negative evaluation of life events, and the negative evaluation of life events mediated the effects of interpersonal sensitivity on anxiety symptoms. LIMITATIONS: There may be possible recall bias owing to the self-administration of the questionnaire. In addition, this study had a cross-sectional design, and hence the results should be validated by a prospective study. CONCLUSION: The effects of childhood maltreatment on the state anxiety of adult volunteers are not only direct but are also mediated by interpersonal sensitivity. Our results suggest that assessing interpersonal sensitivity may help to determine optimal treatments for patients with anxiety who experienced maltreatment in childhood.

10.
PLoS One ; 15(10): e0239820, 2020.
Article En | MEDLINE | ID: mdl-33002039

BACKGROUND: Childhood maltreatment affects social functioning in the general adult population. However, how child abuse affects functional disability in adulthood remains unknown. Thus, we investigated the correlation between child abuse, depressive symptoms, cognitive complaints, and functional disability in adult community volunteers. METHODS: Participants (N = 556) completed the Child Abuse and Trauma Scale, Patient Health Questionnaire-9, Cognitive Complaints in Bipolar Disorder Rating Assessment, and Sheehan Disability Scale. Multiple regression analyses and structural equation modeling were performed to evaluate scale correlations. RESULTS: Structural equation modeling showed that the direct effect of childhood maltreatment on depressive symptoms, the indirect effect of childhood maltreatment on cognitive function via depressive symptoms, and the indirect effects of childhood maltreatment on functional disability via depressive symptoms and via cognitive function were all significant. The direct effects of childhood maltreatment on cognitive function and functional disability were not significant. There was no significant association between variables. LIMITATIONS: Cross-sectional designs cannot identify causal relationships between parameters. Participants were adult volunteers from the community; therefore, results may not be generalizable to individuals with psychiatric disorders. Sociodemographic variability was a limitation because we used self-reported childhood maltreatment. CONCLUSIONS: Childhood maltreatment indirectly affects functional disability via depressive symptoms and via cognitive function through depressive symptoms. We suggest that depressive symptoms and cognitive function play crucial roles in the influence of childhood maltreatment on functional disability in adult community volunteers.


Child Abuse/statistics & numerical data , Depression/epidemiology , Adolescent , Adult , Child , Child Abuse/psychology , Cognition , Depression/etiology , Female , Humans , Male , Middle Aged
11.
J Peripher Nerv Syst ; 25(2): 125-131, 2020 06.
Article En | MEDLINE | ID: mdl-32108980

Heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) gene have been reported with different clinical phenotypes including Silver syndrome (SS)/spastic paraplegia 17 (SPG17), distal hereditary motor neuropathy type V (dHMN-V), and Charcot-Marie-Tooth (CMT) disease type 2. We screened 407 Japanese patients who were clinically suspected of having CMT by exome sequencing and searched mutations in BSCL2. As a result, we identified five patients with heterozygous mutations in BSCL2. We confirmed three cases of known mutations (p.N88S and p.S90L) and two cases of novel mutations (p.N88T and p.S141A). The clinical features of the cases with known mutations in Japan were similar to those previously reported in other countries. In particular, there were many cases with sensory disturbance. The case with p.N88T mutation showed severe phenotype such as early onset age and prominent vocal cord paresis. The case with p.S141A mutation showed characteristics of demyelinating neuropathy such as CMT disease type 1 by electrophysiological examination. In this article, we report the clinical features and spread of cases with BSCL2 mutation in a Japanese cohort.


Charcot-Marie-Tooth Disease/genetics , Charcot-Marie-Tooth Disease/physiopathology , GTP-Binding Protein gamma Subunits/genetics , Adolescent , Adult , Child , Female , Humans , Japan , Middle Aged , Mutation , Pedigree , Young Adult
12.
Neuropsychiatr Dis Treat ; 16: 1-10, 2020.
Article En | MEDLINE | ID: mdl-32021194

BACKGROUND: Previous studies have shown that childhood maltreatment is associated with premenstrual dysphoric disorder (PMDD). In this study we analyzed how multiple factors, such as childhood maltreatment, affective temperaments, and adult life events influence the severity of premenstrual mental (PMM) symptoms in nonclinical adult volunteers from the community. METHODS: A total of 204 participants were recruited and administered the following self-administered questionnaire surveys: PMDD scale, visual analogue scale, Patient Health Questionnaire-9, Life Experience Survey, Temperament Evaluation of Memphis, Pisa, Paris, and San Diego autoquestionnaire version, and the Child Abuse and Trauma scale. In addition to single and multiple regression analyses, structural equation modeling was used for the statistical analyses. RESULTS: A history of neglect indirectly predicted PMM symptoms through affective temperaments in nonclinical adult volunteers. Three affective temperaments (irritable, cyclothymic, and anxious) directly predicted PMM symptoms. CONCLUSION: This study is the first to report that childhood maltreatment, particularly neglect, indirectly predicted PMM symptoms through affective temperaments. The results of our study suggest that affective temperament is a mediator of the influence of childhood maltreatment on PMM symptoms.

13.
Neuropsychiatr Dis Treat ; 15: 2477-2485, 2019.
Article En | MEDLINE | ID: mdl-31695384

BACKGROUND: How subjective social status is associated with childhood abuse and affective temperament in the mechanism of depressive symptom exacerbation remains unknown. In this study, we investigated how the complex effects of subjective social status, childhood abuse, and affective temperament influence depressive symptoms in adulthood. METHODS: Self-report questionnaires were distributed to 853 adult volunteers between January and August 2014. Of them, 404 people gave full consent and returned complete anonymous responses. The following five questionnaires were analyzed: demographic information, Patient Health Questionnaire-9, subjective social status, Child Abuse and Trauma Scale, and Temperament Evaluation of Memphis, Pisa, Paris and San Diego autoquestionnaire. The associations between the scores were analyzed by structural equation modeling. This study was conducted with approval from the ethics committees of Tokyo Medical University and Hokkaido University Hospital. RESULTS: Covariance structure analysis demonstrated that childhood abuse and subjective social status did not have a direct effect on adulthood depressive symptoms. Childhood abuse had direct effects on subjective social status and affective temperament and childhood abuse indirectly affected adulthood depressive symptoms through subjective social status and affective temperament. Subjective social status also affected depressive symptoms through an effect on affective temperament. This model explained 43% of the variability in depressive symptoms and the fitness of this model was good. CONCLUSION: Regarding childhood abuse and adulthood depressive symptoms, subjective social status as well as affective temperament may be mediators. The results of this study are expected to contribute to the elucidation of the mechanism of depression.

14.
J Affect Disord ; 257: 396-403, 2019 10 01.
Article En | MEDLINE | ID: mdl-31306990

BACKGROUND: We previously reported that child abuse indirectly predicts the diagnosis of major depressive disorder (MDD) or bipolar disorder (BP) based on higher scores of affective temperaments; however, the subtypes of child abuse have not been examined sufficiently. Therefore, in the present study, we used the reclassified version of the Child Abuse and Trauma Scale (CATS) to determine how the subtypes of child abuse affect affective temperaments. METHODS: A total of 502 participants (212 healthy controls, 163 patients with MDD and 127 patients with BP) were administered the Japanese version of the CATS; the Japanese version of the Temperament Evaluation of Memphis, Pisa, Paris, and San Diego Autoquestionnaire; and the Japanese version of the Patient Health Questionnaire-9. Data were analyzed by exploratory and confirmatory factor analyses, as well as by univariate and multivariate analyses. RESULTS: A five-factor structure was appropriate for the CATS. The MDD group scored significantly higher on all subtypes of the reclassified CATS than did the control group. Among the subscales of the reclassified CATS, physical abuse and loneliness/psychological stress were significant predictors of affective temperaments, although all subscales were significantly associated with affective temperaments compared to the original CATS. LIMITATIONS: Since child abuse was assessed retrospectively, there might be recall bias. Furthermore, as the study was limited to Japanese individuals, particularly those with mood disorders, the findings might not be generalizable. CONCLUSIONS: This study revealed that the subtypes of child abuse (especially physical abuse and loneliness/psychological stress) might be associated with MDD and BP.


Adult Survivors of Child Abuse/statistics & numerical data , Bipolar Disorder/psychology , Child Abuse/classification , Child Abuse/psychology , Depressive Disorder, Major/psychology , Temperament , Adult , Case-Control Studies , Child , Factor Analysis, Statistical , Female , Humans , Male , Middle Aged , Retrospective Studies , Surveys and Questionnaires
15.
Neuropsychiatr Dis Treat ; 14: 3279-3287, 2018.
Article En | MEDLINE | ID: mdl-30568450

BACKGROUND: Various personality traits mediate the association between childhood stress and depressive symptoms in adulthood. The aim of this study was to clarify the indirect effects of the experience of child maltreatment on depressive symptoms and appraisal of life events in adulthood through trait anxiety. SUBJECTS AND METHODS: A total of 404 participants who were volunteer subjects from the community were studied using the following self-administered questionnaire surveys: Patient Health Questionnaire-9, which measures depressive symptoms; State-Trait Anxiety Inventory Form Y, which measures trait anxiety; the Child Abuse and Trauma Scale, which measures child maltreatment; and Life Experiences Survey, which measures negative and positive appraisal of adulthood life events. RESULTS: Structural equation modeling demonstrated that the experience of child maltreatment increased depressive symptoms in adulthood as well as the negative appraisal of life events in adulthood through an increase in trait anxiety. Furthermore, trait anxiety affected depressive symptoms in adulthood through its influence on the negative appraisal of adulthood life events. The following indirect effect was also significant: the experience of child maltreatment increased the negative appraisal of adulthood life events via trait anxiety and subsequently influenced adult depressive symptoms. LIMITATIONS: The subjects of this study are volunteer subjects from the community including healthy people, and hence the results may not be generalizable to major depressive patients. Recall bias should be considered when interpreting the results. Because this study is a cross-sectional study, the causality between the experience of child maltreatment and depression is not clear. CONCLUSION: This study suggests that trait anxiety may play a mediating role in the influence of the experience of child maltreatment on depressive symptoms in adulthood and negative appraisal of adulthood life events.

16.
Brain ; 141(6): 1622-1636, 2018 06 01.
Article En | MEDLINE | ID: mdl-29718187

Several genes related to mitochondrial functions have been identified as causative genes of neuropathy or ataxia. Cytochrome c oxidase assembly factor 7 (COA7) may have a role in assembling mitochondrial respiratory chain complexes that function in oxidative phosphorylation. Here we identified four unrelated patients with recessive mutations in COA7 among a Japanese case series of 1396 patients with Charcot-Marie-Tooth disease (CMT) or other inherited peripheral neuropathies, including complex forms of CMT. We also found that all four patients had characteristic neurological features of peripheral neuropathy and ataxia with cerebellar atrophy, and some patients showed leukoencephalopathy or spinal cord atrophy on MRI scans. Validated mutations were located at highly conserved residues among different species and segregated with the disease in each family. Nerve conduction studies showed axonal sensorimotor neuropathy. Sural nerve biopsies showed chronic axonal degeneration with a marked loss of large and medium myelinated fibres. An immunohistochemical assay with an anti-COA7 antibody in the sural nerve from the control patient showed the positive expression of COA7 in the cytoplasm of Schwann cells. We also observed mildly elevated serum creatine kinase levels in all patients and the presence of a few ragged-red fibres and some cytochrome c oxidase-negative fibres in a muscle biopsy obtained from one patient, which was suggestive of subclinical mitochondrial myopathy. Mitochondrial respiratory chain enzyme assay in skin fibroblasts from the three patients showed a definitive decrease in complex I or complex IV. Immunocytochemical analysis of subcellular localization in HeLa cells indicated that mutant COA7 proteins as well as wild-type COA7 were localized in mitochondria, which suggests that mutant COA7 does not affect the mitochondrial recruitment and may affect the stability or localization of COA7 interaction partners in the mitochondria. In addition, Drosophila COA7 (dCOA7) knockdown models showed rough eye phenotype, reduced lifespan, impaired locomotive ability and shortened synaptic branches of motor neurons. Our results suggest that loss-of-function COA7 mutation is responsible for the phenotype of the presented patients, and this new entity of disease would be referred to as spinocerebellar ataxia with axonal neuropathy type 3.


Electron Transport Complex IV/genetics , Hereditary Sensory and Motor Neuropathy/complications , Hereditary Sensory and Motor Neuropathy/genetics , Mutation/genetics , Spinocerebellar Ataxias/complications , Spinocerebellar Ataxias/genetics , Adolescent , Animals , Animals, Genetically Modified , Brain/diagnostic imaging , Cells, Cultured , Drosophila , Drosophila Proteins/genetics , Drosophila Proteins/metabolism , Family Health , Female , Fibroblasts/drug effects , Fibroblasts/metabolism , Fibroblasts/pathology , Genetic Predisposition to Disease/genetics , Green Fluorescent Proteins/genetics , Green Fluorescent Proteins/metabolism , HeLa Cells , Hereditary Sensory and Motor Neuropathy/diagnostic imaging , Humans , Imaginal Discs/metabolism , Imaginal Discs/ultrastructure , Locomotion/drug effects , Locomotion/genetics , Male , Middle Aged , Motor Neurons/pathology , Neuromuscular Junction/genetics , Neuromuscular Junction/pathology , Neuromuscular Junction/ultrastructure , Psychomotor Performance/physiology , RNA Interference/physiology , Spinal Cord/diagnostic imaging , Spinocerebellar Ataxias/diagnostic imaging , Young Adult
17.
Psychiatry Res ; 262: 13-19, 2018 04.
Article En | MEDLINE | ID: mdl-29407563

In previous studies, various components such as environmental and genetic factors have been shown to contribute to the development of bipolar disorder (BD). This study investigated how multiple factors, including child abuse, adult life events, and affective temperaments, are interrelated and how they affect the diagnosis of BD. A total of 170 healthy controls and 75 BD patients completed the following self-administered questionnaires: the Patient Health Questionnaire-9 evaluating the severity of depressive symptoms; the Child Abuse and Trauma Scale (CATS) evaluating child abuse; the Temperament Evaluation of Memphis, Pisa, Paris, and San Diego autoquestionnaire (TEMPS-A) evaluating affective temperaments; and the Life Experiences Survey (LES) evaluating negative and positive adult life events. The data were subjected to univariate analysis, multivariable analysis, and structural equation modeling. The structural equation modeling showed that the diagnosis of BD was indirectly predicted by the neglect and sexual abuse scores of the CATS through four affective temperaments (depressive, cyclothymic, irritable, and anxious) of the TEMPS-A and directly predicted by these four affective temperaments. This study suggested that affective temperament plays an important role as a mediator in the influence of child abuse on BD diagnosis.


Adult Survivors of Child Abuse/psychology , Affect , Bipolar Disorder/psychology , Life Change Events , Temperament , Adult , Case-Control Studies , Depression/psychology , Female , Humans , Male , Middle Aged , Self Report
18.
J Peripher Nerv Syst ; 23(1): 40-48, 2018 03.
Article En | MEDLINE | ID: mdl-29381233

Mutations in small heat shock protein beta-1 (HspB1) have been linked to Charcot-Marie-Tooth (CMT) disease type 2F and distal hereditary motor neuropathy type 2B. Only four cases with HSPB1 mutations have been reported to date in Japan. In this study between April 2007 and October 2014, we conducted gene panel sequencing in a case series of 1,030 patients with inherited peripheral neuropathies (IPNs) using DNA microarray, targeted resequencing, and whole-exome sequencing. We identified HSPB1 variants in 1.3% (13 of 1,030) of the patients with IPNs, who exhibited a male predominance. Based on neurological and electrophysiological findings, seven patients were diagnosed with CMT disease type 2F, whereas the remaining six patients were diagnosed with distal hereditary motor neuropathy type 2B. P39L, R127W, S135C, R140G, K141Q, T151I, and P182A mutations identified in 12 patients were described previously, whereas a novel K123* variant with unknown significance was found in 1 patient. Diabetes and impaired glucose tolerance were detected in 6 of the 13 patients. Our findings suggest that HSPB1 mutations result in two phenotypes of inherited neuropathies and extend the phenotypic spectrum of HSPB1-related disorders.


Charcot-Marie-Tooth Disease/genetics , HSP27 Heat-Shock Proteins/genetics , Muscular Atrophy, Spinal/genetics , Aged , Female , Heat-Shock Proteins , Humans , Japan , Male , Middle Aged , Molecular Chaperones , Mutation , Pedigree
19.
Psychiatry Res ; 257: 126-131, 2017 11.
Article En | MEDLINE | ID: mdl-28755602

Previous studies indicated that personality traits have a mediator effect on the relationship between childhood abuse and depressive symptoms in major depressive disorder and nonclinical general adult subjects. In the present study, we aimed to test the hypothesis that personality traits mediate the relationship between childhood abuse and depressive symptoms in schizophrenia. We used the following questionnaires to evaluate 255 outpatients with schizophrenia: the Child Abuse and Trauma Scale, temperament and character inventory, and Patients Health Questionnire-9. Univariate analysis, multiple regression analysis, and structured equation modeling (SEM) were used to analyze the data. The relationship between neglect and sexual abuse and the severity of depressive symptoms was mostly mediated by the personality traits of high harm avoidance, low self-directedness, and low cooperativeness. This finding was supported by the results of stepwise multiple regression analysis and the acceptable fit indices of SEM. Thus, our results suggest that personality traits mediate the relationship between childhood abuse and depressive symptoms in schizophrenia. The present study and our previous studies also suggest that this mediator effect could occur independent of the presence or type of mental disorder. Clinicians should routinely assess childhood abuse history, personality traits, and their effects in schizophrenia.


Child Abuse/psychology , Depressive Disorder, Major/epidemiology , Depressive Disorder, Major/psychology , Personality Development , Schizophrenia/epidemiology , Schizophrenic Psychology , Adult , Character , Child , Cross-Sectional Studies , Depression/diagnosis , Depression/epidemiology , Depression/psychology , Depressive Disorder, Major/diagnosis , Female , Humans , Male , Middle Aged , Personality Inventory , Retrospective Studies , Schizophrenia/diagnosis , Self Report , Surveys and Questionnaires , Temperament , Young Adult
20.
Neuropsychiatr Dis Treat ; 13: 477-482, 2017.
Article En | MEDLINE | ID: mdl-28243100

BACKGROUND: Recent studies have suggested that the interactions among several factors affect the onset, progression, and prognosis of major depressive disorder. This study investigated how childhood abuse, neuroticism, and adult stressful life events interact with one another and affect depressive symptoms in the general adult population. SUBJECTS AND METHODS: A total of 413 participants from the nonclinical general adult population completed the Patient Health Questionnaire-9, the Child Abuse and Trauma Scale, the neuroticism subscale of the shortened Eysenck Personality Questionnaire - Revised, and the Life Experiences Survey, which are self-report scales. Structural equation modeling (Mplus version 7.3) and single and multiple regressions were used to analyze the data. RESULTS: Childhood abuse, neuroticism, and negative evaluation of life events increased the severity of the depressive symptoms directly. Childhood abuse also indirectly increased the negative appraisal of life events and the severity of the depressive symptoms through enhanced neuroticism in the structural equation modeling. LIMITATIONS: There was recall bias in this study. The causal relationship was not clear because this study was conducted using a cross-sectional design. CONCLUSION: This study suggested that neuroticism is the mediating factor for the two effects of childhood abuse on adulthood depressive symptoms and negative evaluation of life events. Childhood abuse directly and indirectly predicted the severity of depressive symptoms.

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