Author: "Maria Helena Pinto de Azevedo" / Topic: humans - Searchworks@Jio Institute Digital Library Search Results

Your search keyword '"Maria Helena Pinto de Azevedo"' showing total 38 results

Start Over Author "Maria Helena Pinto de Azevedo" Topic humans

38 results on '"Maria Helena Pinto de Azevedo"'

1. Profiles of Subjective Daytime Sleepiness through Cluster Analysis

Author: Ana Allen Gomes, Daniel Ruivo Marques, and Maria Helena Pinto de Azevedo
Subjects: Adult, Male, Sleepiness, Students, Medical, Adolescent, Universities, media_common.quotation_subject, Disorders of Excessive Somnolence, Affect (psychology), Arousal, Diagnostic Self Evaluation, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Perception, Insomnia, medicine, Cluster Analysis, Humans, 030212 general & internal medicine, media_common, Cognition, Mental health, Neuroticism, 030227 psychiatry, Psychiatry and Mental health, Homogeneous, Female, medicine.symptom, Psychology, Clinical psychology
Abstract: Sleepiness propensity and sleepiness perception are two relevant dimensions of the general multidimensional sleepiness construct. In the current study, the aim was to identify eventual homogeneous subgroups when sleepiness propensity and sleepiness perception measures are combined. Data from 678 undergraduate students (aged 17 to 24 years) from a medical school were analyzed. A Two-Step Cluster Analysis was performed taken into consideration sleepiness propensity and sleepiness perception measures as clustering variables. Four different clusters were identified. Additionally, the two groups comprising higher levels of sleepiness perception (i.e., "high perception, low propensity" and "high subjective daytime sleepiness" clusters) had the most compromised results in some of the sleep-related variables examined - sleep needs, sleep latency, sleep quality, sleep sufficiency, self-reported insomnia, sleep reactivity to stress, and cognitive arousal - and in some of non-sleep related variables, such as neuroticism and affect. As to non-sleep variables, those groups reported higher scores in neuroticism, arousability, self-reported mental health and affective states. The identification of distinct groups concerning self-reported sleepiness may bring new avenues for research and understanding of the specific and differential role of sleepiness and its dimensions in sleep health and sleep disturbances, in particular, insomnia disorder.
Published: 2019
Full Text: View/download PDF

2. Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry

Author: António Macedo, Patrick F. Sullivan, Pamela Sklar, Diana O. Perkins, David L. Braff, Eric D. Achtyes, Roman Kotov, Eli A. Stahl, Maria Helena Pinto de Azevedo, Colm O'Dushlaine, Elizabeth Bevilacqua, Célia Barreto Carvalho, Marquis P. Vawter, James Nemesh, Edward M. Scolnick, Jacquelyn L. Meyers, Jorge Valderrama, Shaun Purcell, Becky Kinkead, Douglas S. Lehrer, Peter F. Buckley, William Byerley, Humberto Nicolini, Fabio Macciardi, James L. Kennedy, Michael Escamilla, Ruben C. Gur, Dolores Malaspina, Ashley Dumont, Giulio Genovese, Helena Medeiros, Penelope Georgakopoulos, Colony Abbott, Diane Gage, Carlos N. Pato, Brooke M. Sklar, Roseann E. Peterson, Jordan W. Smoller, Steven A. McCarroll, Raquel E. Gur, Ayman H. Fanous, Laura J. Fochtmann, Stephen R. Marder, Sinéad B. Chapman, Mark Hyman Rapaport, James A. Knowles, Michele T. Pato, Janet L. Sobell, Evelyn J. Bromet, Conrad Iyegbe, Lynn E DeLisi, Jeffrey J. Rakofsky, Oleg V. Evgrafov, Jennifer L. Moran, Christopher P. Morley, Tim B. Bigdeli, Richard A. Belliveau, and Mantosh J. Dewan
Subjects: Male, 0301 basic medicine, Linkage disequilibrium, Population, Black People, Genomics, Biology, Polymorphism, Single Nucleotide, Article, European descent, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Genetics, Humans, Genetic Predisposition to Disease, education, Molecular Biology, Genetic association, education.field_of_study, Genetic variants, Hispanic or Latino, Heritability, Psychiatry and Mental health, 030104 developmental biology, Genetic Loci, Schizophrenia, Etiology, Female, 030217 neurology & neurosurgery, Genome-Wide Association Study, Demography
Abstract: Schizophrenia is a common, chronic and debilitating neuropsychiatric syndrome affecting tens of millions of individuals worldwide. While rare genetic variants play a role in the etiology of schizophrenia, most of the currently explained liability is within common variation, suggesting that variation predating the human diaspora out of Africa harbors a large fraction of the common variant attributable heritability. However, common variant association studies in schizophrenia have concentrated mainly on cohorts of European descent. We describe genome-wide association studies of 6152 cases and 3918 controls of admixed African ancestry, and of 1234 cases and 3090 controls of Latino ancestry, representing the largest such study in these populations to date. Combining results from the samples with African ancestry with summary statistics from the Psychiatric Genomics Consortium (PGC) study of schizophrenia yielded seven newly genome-wide significant loci, and we identified an additional eight loci by incorporating the results from samples with Latino ancestry. Leveraging population differences in patterns of linkage disequilibrium, we achieve improved fine-mapping resolution at 22 previously reported and 4 newly significant loci. Polygenic risk score profiling revealed improved prediction based on trans-ancestry meta-analysis results for admixed African (Nagelkerke’s R2 = 0.032; liability R2 = 0.017; P −52), Latino (Nagelkerke’s R2 = 0.089; liability R2 = 0.021; P −58), and European individuals (Nagelkerke’s R2 = 0.089; liability R2 = 0.037; P −113), further highlighting the advantages of incorporating data from diverse human populations.
Published: 2019
Full Text: View/download PDF

3. Portuguese Version of the Arousal Predisposition Scale: Preliminary Evidence for a Two-Factor Structure in a Nonclinical Sample

Author: Ana Allen Gomes, Maria Helena Pinto de Azevedo, and Daniel Ruivo Marques
Subjects: Adult, Male, Students, Medical, Adolescent, Psychometrics, Individuality, Sample (statistics), Factor structure, Arousal, Developmental psychology, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Humans, 030212 general & internal medicine, General Psychology, Portugal, Reproducibility of Results, Scale (music), language.human_language, language, Female, Portuguese, Psychology, 030217 neurology & neurosurgery
Abstract: It is known that there is significant variability in arousal levels of the individuals. The Arousal Predisposition Scale (APS) is a questionnaire intended to measure individual differences in arousability. In the current work, our aim was to present the initial psychometric properties of the Portuguese version of the APS. Three hundred forty-five undergraduate medical students from both genders were enrolled. All participants filled out a set of questionnaires—which contained the APS—at the end of their lectures and out of the evaluation period. The APS showed good internal consistency (α = .85) and discriminated individuals with extreme scores. Further, in general, the scale discriminated as well both genders pertaining to the individual items and total score. In terms of scale structure, two related factors were extracted (F1 = emotional reactivity and F2 = trait anxiety). Significant associations among APS and other sleep and psychological self-report variables were also observed. The APS seems to be a reliable and valid instrument to assess self-reported physiological arousability, at least in a sample of young adults. The two-factor composition will require more studies to be replicated in similar groups and, particularly, in clinical samples.
Published: 2017
Full Text: View/download PDF

4. BaSIQS - basic scale on insomnia complaints and quality of sleep: reliability, norms, validity, and accuracy studies, based on clinical and community samples

Author: Daniel Ruivo Marques, Maria Helena Pinto de Azevedo, Vanda Clemente, Ana Allen Gomes, and Mariana Miller-Mendes
Subjects: Adult, Male, Adolescent, Psychometrics, Physiology, 030209 endocrinology & metabolism, Sensitivity and Specificity, Pittsburgh Sleep Quality Index, 03 medical and health sciences, 0302 clinical medicine, Cronbach's alpha, Physiology (medical), Sleep Initiation and Maintenance Disorders, Surveys and Questionnaires, Insomnia, medicine, Humans, Association (psychology), Reliability (statistics), Discriminant validity, Actigraphy, Middle Aged, Circadian Rhythm, ROC Curve, Scale (social sciences), Female, medicine.symptom, Psychology, Factor Analysis, Statistical, Sleep, 030217 neurology & neurosurgery, Clinical psychology
Abstract: This research focused on the Basic Scale on Insomnia Symptoms and Quality of Sleep (BaSIQS), formerly validated in undergraduates using the Pittsburgh Sleep Quality Index (PSQI), and aimed to expand internal consistency analysis, examine thoroughly its validity, and determine its clinical accuracy. Considering objective and subjective measures, recruiting non-clinical and clinical samples, this research implemented a comprehensive approach to examine convergent and discriminant validity, confirmatory factor analyses, and the BaSIQS sensitivity and specificity. The BaSIQS was filled out along with the Insomnia Severity Index (ISI), questions on sleep-wake schedules, Composite Scale of Morningness (CSM) and Brief Symptom Inventory-18 (BSI-18) by 1198 adults, 18-64 years old, plus another 30 who wore actimeters, recruited in community settings. A clinical group of 30 chronic insomnia disorder patients also participated. Cronbach alpha coefficient was 0.80. A two-factor structure was confirmed. The association between BaSIQS and ISI was large, whereas actigraphy correlations were medium or small. Medium to non-significant correlations were found concerning conceptually different self-report measures. Comparing the clinic and control groups, the former showed poorer sleep, with a large effect size. Receiver operating characteristic analysis revealed an area under curve = 0.9, and an optimal cut-off score >15. In conclusion, results on reliability, validity, and accuracy provide support to the utility of the BaSIQS both in community and clinical settings, for research and practical purposes.
Published: 2019

5. Profiling insomnia using subjective measures: where are we and where are we going

Author: Maria Helena Pinto de Azevedo, Vanda Clemente, Ana Allen Gomes, and Daniel Ruivo Marques
Subjects: Adult, Male, 050103 clinical psychology, business.industry, 05 social sciences, General Medicine, Middle Aged, Data science, 03 medical and health sciences, 0302 clinical medicine, Sleep Initiation and Maintenance Disorders, Surveys and Questionnaires, Insomnia, medicine, Profiling (information science), Humans, 0501 psychology and cognitive sciences, Female, medicine.symptom, business, 030217 neurology & neurosurgery
Published: 2017

6. Circadian preferences in young adults: Psychometric properties and factor structure of the Portuguese version of the Preferences Scale (PS-6)

Author: Maria Helena Pinto de Azevedo, Ana Allen Gomes, Daniel Ruivo Marques, and Lee Di Milia
Subjects: Adult, Male, Adolescent, Personality Inventory, Psychometrics, Physiology, 050109 social psychology, Structural equation modeling, Developmental psychology, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Surveys and Questionnaires, Physiology (medical), Humans, 0501 psychology and cognitive sciences, Reliability (statistics), Principal Component Analysis, 05 social sciences, Reproducibility of Results, Actigraphy, Confirmatory factor analysis, language.human_language, Circadian Rhythm, Scale (social sciences), language, Female, Portuguese, Personality Assessment Inventory, Factor Analysis, Statistical, Sleep, Psychology, 030217 neurology & neurosurgery, Clinical psychology
Abstract: Morningness is a trait-like variable which has been extensively studied within chronobiology. Despite the number of existing measures to assess morningness, there is a need for brief instruments that are psychometrically sound to be used in applied settings. Accordingly, the modified version of the Preferences Scale (PS-6) comprises six items and was reported to have adequate reliability and satisfactory validity indicators. In this article, the psychometric properties of the Portuguese version of the PS-6 are reported. A total of 700 students attending medical school were recruited, and this sample was randomly divided into two groups. In the first group (n = 352), we assessed the internal consistency calculations and conducted a principal component analysis of the posited structure. In the second group (n = 348), we conducted a confirmatory factor analysis (CFA) using structural equation modeling. Overall, the results indicated that the PS-6 has adequate reliability (α = .75) and is constituted by two components: (I) preferred cognitive activities timings and (II) preferred sleeping-eating timings, respectively. In conclusion, the Portuguese version of the PS seems suitable for use in research and applied settings such as shift work schedules management. However, the applicability of the PS-6 in other samples and further validity indicators should be both investigated. The use of actigraphy and biological measures should also be collected to enhance the robustness of the PS-6.
Published: 2017

7. Sleep–Wake Patterns Reported by Parents in Hyperactive Children Diagnosed According to ICD-10, as Compared to Paired Controls

Author: Carla Parchão, Vanda Clemente, Maria Helena Pinto de Azevedo, Ana Allen Gomes, and Anabela Almeida
Subjects: Male, Parents, Sleep Wake Disorders, medicine.medical_specialty, Adolescent, Poison control, Sleep Bruxism, Hyperkinesis, Bedtime, International Classification of Diseases, Injury prevention, Developmental and Educational Psychology, medicine, Humans, Child, Psychiatry, ICD-10, medicine.disease, Comorbidity, Circadian Rhythm, Hyperkinetic disorder, Psychiatry and Mental health, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Sleep, Psychology
Abstract: This study aimed primarily to compare the parent-reported sleep of children with ICD-10 hyperkinetic disorder (HKD) versus community children. Thirty children aged 5-13 years (83.3% boys) diagnosed with HKD by their child and adolescent psychiatrists took part in this study, plus 30 community children, matched for sex, age, and school year. Compared to the controls, the HKD children showed significantly later bedtimes, stronger bedtime resistance, longer sleep latency, shorter sleep; more frequent behaviors and symptoms concerning falling asleep into parents bed, needing something special to initiate sleep, nightmares, sleep talking, sleep bruxism, fear from darkness, bedwetting, and, most notably, loud snoring (26.7%); they also tended to show higher daytime somnolence. Attention deficit/hyperactivity disorder (ADHD)/HKD children may thus have more sleep-related problems than typically developing children. Alternatively, our results may reflect misdiagnoses; thus, special attention should be directed to comorbidity and differential diagnosis issues between sleep disturbances and ADHD/HKD.
Published: 2013
Full Text: View/download PDF

8. Is Positive Affect in Pregnancy Protective of Postpartum Depression?

Author: Berta Maia, Maria Helena Pinto de Azevedo, António Macedo, Maria João Soares, José Valente, Ana Allen Gomes, Mariana Marques, Sandra Carvalho Bos, and Ana Telma Pereira
Subjects: Adult, Postpartum depression, medicine.medical_specialty, Negative Affect, lcsh:RC435-571, Pregnancy Trimester, Third, Postpartum Depression, Profile of mood states, Depression, Postpartum, Young Adult, Social support, Quality of life, Risk Factors, Profile of Mood States, Pregnancy, lcsh:Psychiatry, medicine, Humans, Psychiatry, Depression (differential diagnoses), Psychiatric Status Rating Scales, Portugal, Obstetrics, Social Support, medicine.disease, Affect, Psychiatry and Mental health, Socioeconomic Factors, Positive Affect, Quality of Life, Female, Psychiatric interview, Epidemiologic Methods, Psychology, Psychosocial
Abstract: Objective: To investigate the predictive/protective role of negative affect/positive affect in late pregnancy on the outcome of postpartum depression.Methods: A total of 491 pregnant women participated in the study. The participants were asked to fill out a series of questionnaires, which included the Profile of Mood States, the Beck Depression Inventory-II, psychosocial variables and socio-demographic characteristics and were asked to participate in a psychiatric interview. After delivery, 272 mothers participated again in the study and filled out a similar series of questionnaires.Results: Negative affect was associated with more intense depressive symptomatology, more self-perceived stress, lower self-reported social support, lower quality of life and perception of having a more difficult infant. By contrast, positive affect was negatively associated with these variables. Negative affect in late pregnancy increased the likelihood of experiencing postpartum depression (DSM-IV/OR = 2.1, 95%CI = 1.3-3.4, p = .003; ICD-10/OR = 2.1, 95%CI = 1.5-3.0, p < .001), while positive affect increased the odds of not having this condition (DSM-IV/OR = 2.0, 95%CI = 1.5-2.7, p = .042).Conclusion: In pregnancy, negative affect was a predictor of postpartum depression, whereas positive affect showed a protective role. Future studies are required to explore whether psychotherapeutic strategies focusing on decreasing negative affect and enhancing positive affect in the last trimester of pregnancy can reduce the risk of postpartum depression.
Published: 2013
Full Text: View/download PDF

9. Assessing Stress-Induced Sleep Reactivity in College Students: The European Portuguese Version of the Ford Insomnia Response to Stress Test (FIRST)

Author: Thomas Roth, Daniel Ruivo Marques, Christopher L. Drake, Maria Helena Pinto de Azevedo, and Ana Allen Gomes
Subjects: Adult, Male, Adolescent, Neuroscience (miscellaneous), Medicine (miscellaneous), Developmental psychology, 03 medical and health sciences, Young Adult, 0302 clinical medicine, European Portuguese, Stress test, Risk Factors, Sleep Initiation and Maintenance Disorders, Surveys and Questionnaires, mental disorders, Stress (linguistics), Insomnia, medicine, Humans, Reactivity (psychology), Students, Portugal, Stress induced, Construct validity, language.human_language, Europe, 030228 respiratory system, Rumination, language, Female, Neurology (clinical), Psychology (miscellaneous), medicine.symptom, Psychology, 030217 neurology & neurosurgery, Stress, Psychological, Clinical psychology
Abstract: Over the past few years, the comprehensive models of insomnia have exhibited impressive developments. However, there is scarce knowledge on predisposing or vulnerability factors for insomnia. One of the most promising constructs to aid in filling this gap is stress-induced sleep reactivity assessed through self-report. Our aim was to study the psychometric properties of the European Portuguese version of the Ford Insomnia Response to Stress Test (FIRST).We recruited a large sample of students attending medical school (N = 699).Several analyses were carried out such as internal consistency, construct validity, and discriminant groups' analysis.It was observed that FIRST-PT shows good internal consistency (Cronbach´s alpha = .81) and validity indicators. Interestingly, and contrary to what was observed in the previously published studies on psychometric properties of the FIRST, it was observed that a two-factor solution (Factor I = rumination, Factor II = worry) was the most adequate one to explain the correlation matrix, accounting for approximately 44% of the total variance.The FIRST-PT proved to be a useful and reliable tool to measure stress-induced sleep reactivity. However, these results should be replicated in other groups, particularly clinical samples, in order to verify the stability of its factorial dimension.
Published: 2016

10. Short forms of the Postpartum Depression Screening Scale: as accurate as the original form

Author: António Macedo, Maria Helena Pinto de Azevedo, Vasco Nogueira, José Valente, Ana Telma Pereira, Maria João Soares, Berta Maia, Mariana Marques, and Sandra Carvalho Bos
Subjects: Adult, Postpartum depression, medicine.medical_specialty, Psychometrics, MEDLINE, Sensitivity and Specificity, Depression, Postpartum, Young Adult, International Classification of Diseases, Pregnancy, Surveys and Questionnaires, medicine, Humans, Mass Screening, Psychiatry, Reliability (statistics), Psychiatric Status Rating Scales, Principal Component Analysis, Portugal, Reproducibility of Results, Obstetrics and Gynecology, Translating, medicine.disease, language.human_language, Checklist, Psychiatry and Mental health, language, Female, Diagnostic Interview for Genetic Studies, Portuguese, Psychology, Perinatal Depression, Clinical psychology
Abstract: The aims of the present study were to develop three shorter forms of the Portuguese version of the Postpartum Depression Screening Scale (PDSS) as adapted and translated in Portugal, to analyse their psychometrics and to determine their cut-off points and associated conditional probabilities to screen for perinatal depression according to DSM-IV and ICD-10 criteria. In this study, 441 women in the third trimester of pregnancy and 453 in the third month of postpartum were interviewed for diagnostic purposes according to the Portuguese versions of the Diagnostic Interview for Genetic Studies and the Operational Criteria Checklist for Psychotic Illness. DSM-IV and ICD-10 classifications of depression were our gold standards for caseness. Three different shorter forms of the original Portuguese version of the PDSS were developed on the basis of reliability and factorial analysis. PDSS short versions, composed of seven and 21 (postpartum)/24 (pregnancy) items, presented significant reliability and validity and showed satisfactory combinations of sensitivity and specificity (≅80 %). The short forms of the original Portuguese version of the PDSS are valid alternatives to the 35-item version, given their equally precise screening performances, more concise structures and ease of completion.
Published: 2012
Full Text: View/download PDF

11. Mother's personality and infant temperament

Author: António Macedo, Sandra Carvalho Bos, José Valente, Telmo Pereira, Mariana Marques, Berta Maia, Maria João Soares, Ana Allen Gomes, Maria Helena Pinto de Azevedo, and Vasco Nogueira
Subjects: Adult, Personality Inventory, media_common.quotation_subject, Mothers, Anxiety, behavioral disciplines and activities, Developmental psychology, Pregnancy, Surveys and Questionnaires, Developmental and Educational Psychology, medicine, Humans, Personality, Temperament, media_common, Self-efficacy, Infant mental health, Depression, Infant, Mother-Child Relations, Self Efficacy, Test score, Female, Diagnostic Interview for Genetic Studies, medicine.symptom, Personality Assessment Inventory, Psychology
Abstract: We examined if perfectionism and the perception of being an anxious person were associated with more negative infant temperament ratings by the mothers. 386 women (mean age=30.08; standard deviation=4.21) in their last trimester of pregnancy completed the Multidimensional Perfectionism Scale (MPS), the Beck Depression Inventory-II (BDI-II) and an item about their perception of being or not an anxious person. The Portuguese version of the Diagnostic Interview for Genetic Studies and the Operational Criteria Checklist for Psychotic Illness were used to generate diagnoses according to DSM-IV and ICD-10 criteria. After delivery, women completed eight items of the Difficult Infant Temperament Questionnaire (developed by our team) and filled in, again, the BDI-II and were interviewed with the DIGS. Women with depression (DSM-IV/ICD-10) and probable cases of depression using different cut-offs adjusted to Portuguese prevalence (BDI-II), in pregnancy and postpartum, were excluded. The Difficult Infant Temperament Questionnaire showed to have factorial validity and internal consistency. There was a statistically significant negative correlation between perfectionism total scale score and item 6 from the temperament scale ("is your baby irritable or fussy?"). Considering MPS 3-factor solution found for pregnancy there was also a statistically significant negative correlation between SOP and the same item. Women with low SOP differed from those with medium and high SOP in the total temperament score. Moreover, the low SOP group differed from the medium group on items three and four scores. There were no significant associations with SPP, which is the dimension more closely associated with negative outcomes. There was an association between anxiety trait status (having it or not) and scoring low, medium or high in the infant temperament scale. The proportion of anxious vs. non-anxious women presenting a high score on the infant temperament scale was higher (24.2% vs. 12.9%). Linear regressions showed that SOP (low vs. medium/high) offered a significant contribution to the prediction of total temperament scale score and items 3 and 4 scores, but a logistic regression did not confirm trait anxiety as a significant predictor of mother's infant temperament perception. Concluding, a major result concerns the fact that higher levels of adaptive perfectionism (i.e. SOP) are associated (and predict) a less negative view of their infant's temperament. These results on the effect of mother's anxiety and perfectionism on the child temperament perception might have treatment implications. As perfectionism is not always maladaptive, some of its positive features could be used to enhance women's self-efficacy/sense of parental competence in their role as mothers and positive affect towards their infants. Also, antenatal interventions aimed at minimising anxiety could help to optimise infant temperament outcomes, which could, eventually, also, lead to subsequent maternal and infant mental health better outcomes.
Published: 2011
Full Text: View/download PDF

12. Sleep and Academic Performance in Undergraduates: A Multi-measure, Multi-predictor Approach

Author: José Tavares, Maria Helena Pinto de Azevedo, and Ana Allen Gomes
Subjects: Adult, Male, Multivariate analysis, Adolescent, Universities, Physiology, Academic achievement, Developmental psychology, Young Adult, Surveys and Questionnaires, Physiology (medical), medicine, Humans, Young adult, Students, Attendance, Chronotype, Stepwise regression, Achievement, Circadian Rhythm, Sleep deprivation, Multivariate Analysis, Sleep Deprivation, Female, Sleep (system call), medicine.symptom, Sleep, Psychology
Abstract: The present study examined the associations of sleep patterns with multiple measures of academic achievement of undergraduate university students and tested whether sleep variables emerged as significant predictors of subsequent academic performance when other potential predictors, such as class attendance, time devoted to study, and substance use are considered. A sample of 1654 (55% female) full-time undergraduates 17 to 25 yrs of age responded to a self-response questionnaire on sleep, academics, lifestyle, and well-being that was administered at the middle of the semester. In addition to self-reported measures of academic performance, a final grade for each student was collected at the end of the semester. Univariate analyses found that sleep phase, morningness/ eveningness preference, sleep deprivation, sleep quality, and sleep irregularity were significantly associated with at least two academic performance measures. Among 15 potential predictors, stepwise multiple regression analysis identified 5 significant predictors of end-of-semester marks: previous academic achievement, class attendance, sufficient sleep, night outings, and sleep quality (R 2 = 0.14 and adjusted R 2 = 0.14, F(5, 1234) = 40.99, p< .0001). Associations between academic achievement and the remaining sleep variables as well as the academic, well-being, and lifestyle variables lost significance in stepwise regression. Together with class attendance, night outings, and previous academic achievement, self-reported sleep quality and self-reported frequency of sufficient sleep were among the main predictors of academic performance, adding an independent and significant contribution, regardless of academic variables and lifestyles of the students. (Author correspondence: ana.allen@ua.pt)
Published: 2011
Full Text: View/download PDF

13. Dependência do estado afetivo e estabilidade relativa do traço do perfeccionismo nas perturbações de sono

Author: Sandra Carvalho Bos, António Macedo, José Valente, Maria Helena Pinto de Azevedo, Maria João Soares, Ana Allen Gomes, Ana Telma Pereira, Mariana Marques, and Berta Maia
Subjects: Adult, Male, Sleep Wake Disorders, Adolescent, Personality Inventory, media_common.quotation_subject, medicine.disease_cause, Personality Disorders, Avaliação, Developmental psychology, Correlation, Young Adult, medicine, State dependence, Humans, Personality, Analysis of variance, Evaluation, Students, Estudante, Affective symptoms, media_common, Análise de variância, Sleep disorders, Perfectionism (psychology), medicine.disease, Sleep in non-human animals, Personality disorders, Relative stability, Self Concept, Sintomas afetivos, Psychiatry and Mental health, Trait, Absolute Change, Female, Transtornos do sono, Personality Assessment Inventory, Psychology, Follow-Up Studies
Abstract: OBJECTIVE: To evaluate the degree of absolute change, relative stability and state dependence of trait perfectionism in sleep disturbances in a sample of university students. METHOD: Participants completed the Multidimensional Perfectionism Scale and two items concerning sleep difficulties. The mean age at T0 (baseline) was 19.59 years (SD = 1.61, range = 17-25) and 62.5% of the sample were female. RESULTS: Absolute changes in self-oriented and socially-prescribed perfectionism were found. Relative stability was found for all perfectionism dimensions. Prior and concurrent sleep disturbances explained a significant amount of variance in perfectionism. Controlling for the effects of sleep measures, prior selforiented perfectionism and other-oriented perfectionism were the only significant predictors of subsequent self-oriented perfectionism and otheroriented perfectionism, at T1 and T2. Difficulties falling asleep at T1 and socially-prescribed perfectionism at T0 were significant predictors of socially-prescribed perfectionism at T1. CONCLUSION: Despite significant changes in perfectionism mean scores over the follow-up, the correlation analyses demonstrated that participants remained quite stable in regard to their relative levels of perfectionism. As concurrent difficulties initiating sleep also predicted concurrent socially-prescribed perfectionism, this seems to be one dimension of perfectionism with trait-state characteristics. OBJETIVOS: Avaliar o grau de mudança absoluta, de estabilidade relativa e dependência do estado do perfeccionismo nas perturbações de sono numa amostra de estudantes universitários. MÉTODO: Os sujeitos completaram a Escala Multidimensional do Perfeccionismo e dois itens sobre dificuldades em dormir. Os dados foram recolhidos em três momentos de avaliação, separados por um intervalo de um ano acadêmico. A idade média dos sujeitos noT0 era de 19,59 anos (DP = 1,61, variação = 17-25); 62,5% eram mulheres. RESULTADOS: Foram encontradas ao longo do follow-up mudanças absolutas para o Perfeccionismo Autoorientado e para o Perfeccionismo Socialmente Prescrito. Foi encontrada estabilidade relativa para todas as dimensões do perfeccionismo. As dificuldades de sono prévias e concorrentes explicaram significativamente a variância do perfeccionismo. Controlando o efeito das dificuldades em dormir, o Perfeccionismo Autoorientado e o POO prévios foram os únicos preditores significativos de Perfeccionismo Autoorientado e POO subsequente (T1 e T2). As dificuldades em iniciar o sono no T1 e o Perfeccionismo Socialmente Prescrito prévio (T0) revelaram-se preditores significativos dePerfeccionismoSocialmente PrescritonoT1. CONCLUSÃO: Apesar das mudanças significativas nas pontuações médias de perfeccionismo ao longo do follow-up, as análises de correlação demonstraram que os participantes permaneceramrelativamenteestáveisnosseusníveisdeperfeccionismo.Umavezque asdificuldades em iniciar o sono concorrentes serevelaram um preditor significativo de Perfeccionismo Socialmente Prescrito, o Perfeccionismo Socialmente Prescrito é a dimensão do perfeccionismo que possui características traço-estado.
Published: 2011
Full Text: View/download PDF

14. The Portuguese version of the postpartum depression screening scale

Author: Maria João Soares, Mariana Marques, Berta Maia, Ana Telma Pereira, Ana Allen Gomes, José Valente, Maria Helena Pinto de Azevedo, António Macedo, and Sandra Carvalho Bos
Subjects: Adult, Cross-Cultural Comparison, Postpartum depression, medicine.medical_specialty, Personality Inventory, Psychometrics, Depression, Postpartum, Young Adult, medicine, Humans, Mass Screening, Psychiatry, Depression (differential diagnoses), Mass screening, Reproducibility of Results, Obstetrics and Gynecology, Translating, medicine.disease, Cross-cultural studies, Checklist, language.human_language, Psychiatry and Mental health, Clinical Psychology, Reproductive Medicine, Scale (social sciences), language, Female, Diagnostic Interview for Genetic Studies, Portuguese, Psychology, Clinical psychology
Abstract: The aim of the present study was to analyse whether the Portuguese version of the Postpartum Depression Screening Scale (PDSS) was a valid instrument for screening postpartum depression. For this purpose the following objectives were delineated: (1) to analyse PDSS psychometric properties; (2) to determine PDSS cut-off points and associated conditional probabilities for screening depression according to DSM-IV and ICD-10 criteria; and (3) to compare the performance of PDSS with the Beck Depression Inventory-II (BDI-II) in screening for postpartum depression. Four hundred eighty-six 3-months-postpartum women completed both questionnaires and were interviewed with the Portuguese version of Diagnostic Interview for Genetic Studies (DIGS). The Portuguese version of the operational criteria checklist for psychotic illness (OPCRIT) was used to obtain DSM-IV and ICD-10 diagnoses of depression, our gold standards for caseness. PDSS reliability and validity were very good and equivalent to those reported in other versions, including the original. PDSS was an accurate screening instrument for postpartum depression, showing satisfactory combination of sensitivity and specificity (80%). Compared to BDI-II it has the advantage of being more specific for the motherhood context. PDSS could be very useful for clinical and epidemiological purposes.
Published: 2010
Full Text: View/download PDF

15. The BDI-II factor structure in pregnancy and postpartum: Two or three factors?

Author: Maria João Soares, Ana Allen Gomes, Maria Helena Pinto de Azevedo, Sandra Carvalho Bos, Ana Telma Pereira, Berta Maia, José Valente, António Macedo, and Mariana Marques
Subjects: Adult, medicine.medical_specialty, Bipolar Disorder, Personality Inventory, Psychometrics, Pregnancy Trimester, Third, Varimax rotation, Factor structure, behavioral disciplines and activities, Depression, Postpartum, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Recurrence, Risk Factors, Pregnancy, Postpartum, Psychometric and assessments in psychiatry, medicine, Humans, Young adult, Somatoform Disorders, Psychiatry, Depression (differential diagnoses), Depressive symptoms, Depressive Disorder, Depressive Disorder, Major, Obstetrics, Reproducibility of Results, BDI-II factor analyses, medicine.disease, Anxiety Disorders, 030227 psychiatry, Pregnancy Complications, Psychiatry and Mental health, Cross-Sectional Studies, Gestation, Female, Factor Analysis, Statistical, Psychology, 030217 neurology & neurosurgery
Abstract: The purpose of the present study was to investigate the factor structure of the Beck Depression Inventory-II (BDI-II) in pregnancy and postpartum. Women were asked to fill in the BDI-II in their last trimester of pregnancy and at 3 months after delivery. A total of 331 pregnant women, with a mean age of 29.7 years (SD = 4.6), and 354 mothers, aged 30.6 years (SD = 4.6 years), answered the BDI-II. The first group was mainly nulliparas (65.6%) and the second group was mostly primiparas (57.4%). Factor analyses with principal components solution and varimax rotation were performed. Based on the scree test of Cattell a 2-factor solution and a 3-factor solution were explored. The 2-factor solution was identical in pregnancy and postpartum. Items loading in the Cognitive–Affective factor and in the Somatic–Anxiety factor were almost the same, though the Cognitive–Affective factor explained more of the BDI-II total variance in pregnancy, whereas in postpartum both factors explained similar total variances. The 3-factor solution of the BDI-II in pregnancy and postpartum slightly diverged. Besides the Cognitive–Affective and the Somatic–Anxiety factors, a third factor, Fatigue, was obtained in pregnancy while Guilt was the third factor identified in postpartum. This study reveals that the BDI-II 3-factor solution might be more appropriate to assess depressive symptoms in pregnancy and postpartum.
Published: 2009
Full Text: View/download PDF

16. Connexin 50 gene on human chromosome 1q21 is associated with schizophrenia in matched case control and family-based studies

Author: James L. Kennedy, M. T. Pato, Xingqun Ni, José Valente, Carlos N. Pato, and Maria Helena Pinto de Azevedo
Subjects: Male, Linkage disequilibrium, Genotype, Haploview, Schizophrenia (object-oriented programming), Biology, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Connexins, Linkage Disequilibrium, White People, Gene Frequency, Reference Values, Genetics, Humans, Family, Eye Proteins, Allele frequency, Genetics (clinical), Genetic association, Polymorphism, Genetic, Haplotype, Genotype frequency, Chromosomes, Human, Pair 1, Case-Control Studies, Schizophrenia, Female, Letter to JMG
Abstract: The gap junction subunit connexin permits direct intercellular exchange of ions and molecules including glutamate, and plays an important role in the central nervous system. The connexin 40 (Cx40) and connexin 50 (Cx50) genes are located on chromosome 1q21.1, a region strongly linked with schizophrenia. These lines of evidence suggest that Cx40 and Cx50 may play a role in schizophrenia.Using an allele-specific PCR assay, four polymorphisms each were genotyped for Cx40 and Cx50 in 190 Caucasian patients with schizophrenia and 190 controls matched for sex, age and ethnicity. Following up, Cx50 rs989192 and rs4950495 were investigated in 99 Canadian and 163 Portuguese trios and nuclear families with schizophrenia probands. Hardy-Weinberg equilibrium and linkage disequilibrium (LD) block identification was carried out with HaploView, and association analysis for alleles and haplotypes with a permutation test of 10 000 simulations was carried out using the UNPHASED software program.Distributions of genotype frequencies of all markers were in Hardy-Weinberg equilibrium in Caucasian patients, controls and families. One rs989192-rs4950495 LD block was found in patients but not in controls. We found a significant association between the Cx50 rs989192-rs4950495 haplotype and schizophreniay (chi(2) = 29.55, p0.01). The A-C haplotype had a higher frequency in patients (chi(2) = 7.153, p0.01). Family studies also showed that the A-C haplotype was transmitted more often to patients with schizophrenia (chi(2) = 8.43, p0.01). No association of Cx40 with schizophrenia was found for allele, genotype or haplotype analyses.Our matched case-control and family study indicate that Cx50, but not Cx40, may play a role in the genetic susceptibility to schizophrenia.
Published: 2007
Full Text: View/download PDF

17. New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis

Author: S. Louis Bridges, Jim van Os, Niek de Vries, Michael Conlon O'Donovan, Joshua C. Denny, Markus M. Nöthen, Wolfgang Maier, Mart A F J van de Laar, Lars Klareskog, Soumya Raychaudhuri, Matthew C. Keller, Bryan J. Mowry, Michael Gill, Susmita Datta, Alexander Gusev, Leonid Padyukov, Benjamin M. Neale, Robert Krasucki, Douglas F. Levinson, Jacob Lawrence, Rita M. Cantor, Christina M. Hultman, Elaine Kenny, Annette M. Hartmann, Ole A. Andreassen, Jeff Greenberg, Lieuwe de Haan, Manuel Mattheisen, Bettina Konte, Ingrid Agartz, Marion Friedl, T. Scott Stroup, Anil K. Malhotra, Kenneth S. Kendler, Carlos N. Pato, Nicholas John Craddock, Srinivasa Thirumalai, Piet L. C. M. van Riel, Stephan Ripke, Enda M. Byrne, George Kirov, Richard Bruggeman, Andrew M. McIntosh, Khalid Choudhury, Eli A. Stahl, Farooq Amin, Marieke J H Coenen, Jeffrey A. Lieberman, Tom W J Huizinga, Robert Freedman, Pablo V. Gejman, Jubao Duan, Durk Wiersma, Patrik K. E. Magnusson, Maria Helena Pinto de Azevedo, Douglas Blackwood, William Byerley, Don H. Linszen, Srdjan Djurovic, Pamela Sklar, Peter K. Gregersen, Todd Lencz, Marcella Rietschel, David Curtis, Danielle Posthuma, Stanley Zammit, Phil Lee, Lizzy Rossin, Yukinori Okada, Henrik B. Rasmussen, Ann Olincy, Anna A. E. Vinkhuyzen, Aiden Corvin, Gary Donohoe, Jonathan Pimm, Yunjung Kim, Alan R. Sanders, Steven A. McCarroll, Ayman H. Fanous, John J. McGrath, Wiepke Cahn, Sven Cichon, Thomas Hansen, Paul P. Tak, Alkes L. Price, Vihra Milanova, Andres Ingason, Patrick F. Sullivan, Xavier Mariette, Ina Giegling, Michael John Owen, Michele T. Pato, Robert Karlsson, Thomas Werge, Ingrid Melle, Nelson B. Freimer, Line Olsen, Jane Worthington, S. Hong Lee, Peter Holmans, Thomas Frisell, Hugh Gurling, Robert C. Cloninger, Andrew McQuillin, Shaun Purcell, Helena Medeiros, Divya Mehta, Katherine A. Siminovitch, Nicholas Bass, Digby Quested, Inez Myin-Germeys, Anna K. Kähler, Peter M. Visscher, Valentina Escott-Price, Nancy G. Buccola, Donald W. Black, Dan Rujescu, Thomas G. Schulze, Danyu Lin, Vasilis X Mantzioris, Xinli Hu, René S. Kahn, Vinay Puri, Naomi R. Wray, Qiongyi Zhao, Jeremy M. Silverman, Mark J. Daly, Benjamin S. Pickard, Jianxin Shi, Colm O'Dushlaine, Morten Mattingsdal, Philippe Dieud, Marian L. Hamshere, Robert M. Plenge, Frank Dudbridge, Derek W. Morris, Douglas M. Ruderfer, Paul Cormican, Lyudmila Georgieva, Philip L. De Jager, Hyon K. Choi, Lydia Krabbendam, David St Clair, Roel A. Ophoff, Psychiatrie & Neuropsychologie, MUMC+: MA Psychiatrie (3), MUMC+: Hersen en Zenuw Centrum (3), RS: MHeNs - R2 - Mental Health, Complex Trait Genetics, Functional Genomics, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Amsterdam Neuroscience, Adult Psychiatry, Amsterdam institute for Infection and Immunity, Clinical Immunology and Rheumatology, Lee, S Hong, Byrne, Enda M, Hultman, Christina M, Kahler, Anna, Wray, Naomi R, Schizophrenia Working Group of the Psychiatric Genomics Consortium, and Rheumatoid Arthritis Consortium International
Subjects: rheumatoid arthritis, Adult, Male, Adolescent, Epidemiology, Single-nucleotide polymorphism, Genome-wide association study, Biology, Genetic correlation, Polymorphism, Single Nucleotide, Arthritis, Rheumatoid, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Rheumatoid, pleiotropy, Genetic variation, Genotype, medicine, SNP, Humans, Genetic Predisposition to Disease, Bipolar disorder, Polymorphism, Gene–environment interaction, genome, Public, Environmental & Occupational Health, 030304 developmental biology, Genetics, 0303 health sciences, Arthritis, Genetic Variation, Single Nucleotide, General Medicine, Middle Aged, medicine.disease, genetic relationship, 3. Good health, Miscellaneous, schizophrenia, Cross-Sectional Studies, Schizophrenia, Female, Gene-Environment Interaction, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract: Background: A long-standing epidemiological puzzle is the reduced rate of rheumatoid arthritis (RA) in those with schizophrenia (SZ) and vice versa. Traditional epidemiological approaches to determine if this negative association is underpinned by genetic factors would test for reduced rates of one disorder in relatives of the other, but sufficiently powered data sets are difficult to achieve. The genomics era presents an alternative paradigm for investigating the genetic relationship between two uncommon disorders. Methods: We use genome-wide common single nucleotide polymorphism (SNP) data from independently collected SZ and RA case-control cohorts to estimate the SNP correlation between the disorders. We test a genotype X environment (GxE) hypothesis for SZ with environment defined as winter- vs summer-born. Results: We estimate a small but significant negative SNP-genetic correlation between SZ and RA (−0.046, s.e. 0.026, P = 0.036). The negative correlation was stronger for the SNP set attributed to coding or regulatory regions (−0.174, s.e. 0.071, P = 0.0075). Our analyses led us to hypothesize a gene-environment interaction for SZ in the form of immune challenge. We used month of birth as a proxy for environmental immune challenge and estimated the genetic correlation between winter-born and non-winter born SZ to be significantly less than 1 for coding/regulatory region SNPs (0.56, s.e. 0.14, P = 0.00090). Conclusions: Our results are consistent with epidemiological observations of a negative relationship between SZ and RA reflecting, at least in part, genetic factors. Results of the month of birth analysis are consistent with pleiotropic effects of genetic variants dependent on environmental context. Refereed/Peer-reviewed
Published: 2015
Full Text: View/download PDF

18. Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

Author: Anita Thapar, Lena Backlund, Lindsey Kent, Walter J. Muir, A. Jeremy Willsey, Sandra K. Loo, Michael Boehnke, Christa Lese Martin, Ania Korszun, Guiomar Oliveira, Veronica J. Vieland, Stephen W. Scherer, René S. Kahn, Darina Czamara, Jeremy R. Parr, Michael E. Goddard, Willem A. Nolen, Josep Antoni Ramos-Quiroga, Stephen Sanders, Karola Rehnstroem, Nelson B. Freimer, Erin N. Smith, Ann Olincy, Ingrid Melle, Myrna M. Weissman, James A. Knowles, William Byerley, Aravinda Chakravarti, Shaun Purcell, Jens Treutlein, Sebastian Zoellner, Hakon Hakonarson, Susanne Lucae, Markus M. Noethen, Ian B. Hickie, Marion Friedl, Srinivasa Thirumalai, Stephen Newhouse, Joseph Piven, Andrew M. McIntosh, Cathryn M. Lewis, Srdjan Djurovic, Francis J. McMahon, Ayman H. Fanous, Bernie Devlin, Steven A. McCarroll, Alan F. Schatzberg, Peter Szatmari, Marta Ribasés, C. Robert Cloninger, Brenda W.J.H. Penninx, Gerard van Grootheest, Phil Lee, Richard Anney, Elaine K. Green, Geraldine Dawson, Joseph A. Sergeant, Digby Quested, Magdalena Gross, Jack D. Barchas, Nicholas G. Martin, Timothy W. Yu, Jouke-Jan Hottenga, Mark Lathrop, Federica Tozzi, Martin Hautzinger, Alysa E. Doyle, Cinnamon S. Bloss, Sandra Meier, Louise Gailagher, David A. Collier, Farooq Amin, Michael C. Neale, Martin Schalling, Lieuwe de Haan, Bru Cormand, Falk W. Lohoff, Jennifer Crosbie, Howard J. Edenberg, Aarno Palotie, Johannes H. Smit, Robert Freedman, Katherine Gordon-Smith, Michele L. Pergadia, Enda M. Byrne, Hans-Christoph Steinhausen, Benjamin M. Neale, Anjali K. Henders, Michele T. Pato, Manuel Mattheisen, Urban Ösby, Edward M. Scolnick, Evaristus A. Nwulia, Fritz Poustka, Gonneke Willemsen, Andrew C. Heath, David St. Cair, Emma M. Quinn, I. Nicol Ferrier, John R. Kelsoe, Vanessa Hus, Andrew McQuillin, John P. Rice, William M. McMahon, Joseph Biederman, Danyu Lin, Wolfgang Maier, Frans G. Zitman, Josephine Elia, Nicholas J. Schork, Stéphane Jamain, Lizzy Rossin, Jubao Duan, Ingrid Agartz, Devin Absher, Jordan W. Smoller, Matthew W. State, Richard M. Myers, Shrikant Mane, Carlos N. Pato, William E. Bunney, Marian L. Hamshere, Manfred Uhr, Nicholas John Craddock, Astrid M. Vicente, Tobias Banaschewski, David Curtis, Anne Farmer, Scott D. Gordon, Anna K. Kaehler, Eric M. Morrow, Marcella Rietschel, Patrik K. E. Magnusson, Klaus-Peter Lesch, Rebecca McKinney, Jana Strohmaier, Thomas F. Wienker, Pablo V. Gejman, Douglas Blackwood, Maria Helena Pinto de Azevedo, Tiffany A. Greenwood, Don H. Linszen, Daniel L. Koller, Richard Bruggeman, Vinay Puri, Naomi R. Wray, Stanley J. Watson, Elena Maestrini, Valentina Moskvina, Frank Dudbridge, Danielle Posthuma, Edward G. Jones, Lambertus Klei, Sarah E. Bergen, Fan Meng, Steven P. Hamilton, Guy A. Rouleau, Pierandrea Muglia, Mikael Landén, Stephanie H. Witt, Laramie E. Duncan, Stanley Zammit, Judith A. Badner, Florian Holsboer, Eco J. C. de Geus, Daniel Moreno-De-Luca, Benjamin S. Pickard, Gunnar Morken, Michael Conlon O'Donovan, Michael Steffens, Kathryn Roeder, Dorret I. Boomsma, Paul D. Shilling, Stephan Ripke, Nigel Williams, Jeremy M. Silverman, David Craig, Mark J. Daly, Michael Bauer, Detelina Grozeva, Markus J. Schwarz, Peter Holmans, Hugh Gurling, T. Scott Stroup, Aribert Rothenberger, Gary Donohoe, Eric Fombonne, Joseph D. Buxbaum, Matthew Flicldnger, Bryan J. Mowry, Thomas Hansen, Ina Giegling, Grant W. Montgomery, Caroline M. Nievergelt, Susan L. Smalley, Jung-Ying Tzeng, David H. Ledbetter, Christopher A. Walsh, Gerard D. Schellenberg, Sarah E. Medland, Robert D. Oades, James B. Potash, Dan E. Arking, Johannes Schumacher, Michael Gill, James J. McGough, Jennifer L. Moran, Donald W. Black, Sian Caesar, Neelroop N. Parikshak, Ian W. Craig, Sabine M. Klauck, Wade H. Berrettini, T. Foroud, Peter P. Zandi, Inez Myin-Germeys, Marcus Ising, Sven Cichon, Alexandre A. Todorov, Mònica Bayés, Thomas Werge, Susan L. Slager, Stanley I. Shyn, Jim van Os, Derek W. Morris, Douglas M. Ruderfer, Thomas W. Muehleisen, Matthew C. Keller, Susmita Datta, Ian Jones, John B. Vincent, James L. Kennedy, Anthony P. Monaco, Jianxin Shi, Dale R. Nyholt, Bruno Etain, Christine Fraser, Paul Cormican, Miguel Casas, Radhika Kandaswamy, Gerome Breen, Stephen V. Faraone, Jonna Kuntsi, Thomas Bettecken, Witte J.G. Hoogendijk, Nancy G. Buccola, Franziska Degenhardt, Lyudmila Georgieva, Marion Leboyer, Alan R. Sanders, John Strauss, Dan Rujescu, Russell Schachar, Helena Medeiros, Lisa Jones, Peter M. Visscher, Lauren A. Weiss, René Breuer, John I. Nurnberger, Andreas Reif, Phoenix Kwan, Vihra Milanova, Chunyu Liu, Martin A. Kohli, Donald J. MacIntyre, Nicholas Bass, Khalid Choudhury, Edwin H. Cook, Catherine Lord, Andrew D. Paterson, Jobst Meyer, Richard P. Ebstein, Zhaoming Zhao, Niklas Laengstroem, Thomas G. Schulze, Peter Propping, Wei Xu, Robert C. Thompson, Kimberly Chambert, Jonathan Pimm, Ivan Nikolov, Pamela A. F. Madden, Kevin A. McGhee, Jacob Lawrence, Jan K. Buitelaar, Andres Ingason, Christine M. Freitag, Robert Krasucki, Wiepke Cahn, Rita M. Cantor, Christina M. Hultman, Melvin G. McInnis, Catalina Betancur, Eftichia Duketis, Michael T. Murtha, Thomas H. Wassink, Philip Asherson, John S. Witte, Elaine Kenny, Edmund J.S. Sonuga-Barke, Lydia Krabbendam, Line Olsen, Agatino Battaglia, Laura J. Scott, Annette M. Hartmann, Yunjung Kim, Richard O. Day, Edwin J. C. G. van den Oord, Ole A. Andreassen, Herbert Roeyers, Michael John Owen, Colm O'Dushlaine, Peng Zhang, Morten Mattingsdal, Michael L. Cuccaro, Margaret A. Pericak-Vance, Joachim Hallmayer, Jun Li, Pamela B. Mahon, Elisabeth B. Binder, William A. Scheftner, Daniel H. Geschwind, Christel M. Middeldorp, Josef Frank, Keith Matthews, Jennifer K. Lowe, Paul Lichtenstein, Verneri Anttila, Pamela Sklar, Szabocls Szelinger, Roel A. Ophoff, Peter McGuffin, Stefan Herms, Bettina Konte, George Kirov, Hilary Coon, Maria Hipolito, Louise Frisén, Kenneth S. Kendler, Frank Bellivier, James S. Sutdiffe, Jeffrey A. Lieberman, Todd Lencz, Susanne Hoefels, Alan W. McLean, Barbara Franke, Huda Akil, Soumya Raychaudhuri, Ellen M. Wijsman, Vishwajit L. Nimgaonkar, Roy H. Perlis, Patrick J. McGrath, Susan L. Santangelo, William Coryell, Henrik B. Rasmussen, Weihua Guan, William Lawson, Elliot S. Gershon, Sean Ennis, Aiden Corvin, Allan H. Young, Thomas B. Barrett, Jonathan L. Haines, Douglas F. Levinson, Ana Miranda, Anil K. Malhotra, S. Hong Lee, Stan F. Nelson, Anthony J. Bailey, Patrick F. Sullivan, Dorothy E. Grice, Lefkos T. Middleton, Bertram Mueller-Myhsok, Michael R. Barnes, Adebayo Anjorin, O'Dushlaine, C, Rossin, L, Lee, Ph, Duncan, L, Parikshak, Nn, Newhouse, S, Ripke, S, Neale, Bm, Purcell, Sm, Posthuma, D, Nurnberger, Ji, Lee, Sh, Faraone, Sv, Perlis, Rh, Mowry, Bj, Thapar, A, Goddard, Me, Witte, J, Absher, D, Agartz, I, Akil, H, Amin, F, Andreassen, Oa, Anjorin, A, Anney, R, Anttila, V, Arking, De, Asherson, P, Azevedo, Mh, Backlund, L, Badner, Ja, Bailey, Aj, Banaschewski, T, Barchas, Jd, Barnes, Mr, Barrett, Tb, Bass, N, Battaglia, A, Bauer, M, Bayés, M, Bellivier, F, Bergen, Se, Berrettini, W, Betancur, C, Bettecken, T, Biederman, J, Binder, Eb, Black, Dw, Blackwood, Dh, Bloss, C, Boehnke, M, Boomsma, Di, Breuer, R, Bruggeman, R, Cormican, P, Buccola, Ng, Buitelaar, Jk, Bunney, We, Buxbaum, Jd, Byerley, Wf, Byrne, Em, Caesar, S, Cahn, W, Cantor, Rm, Casas, M, Chakravarti, A, Chambert, K, Choudhury, K, Cichon, S, Mattheisen, M, Cloninger, Cr, Collier, Da, Cook, Eh, Coon, H, Cormand, B, Corvin, A, Coryell, Wh, Craig, Dw, Craig, Iw, Crosbie, J, Cuccaro, Ml, Curtis, D, Czamara, D, Datta, S, Dawson, G, Day, R, De Geus, Ej, Degenhardt, F, Djurovic, S, Donohoe, Gj, Doyle, Ae, Duan, J, Dudbridge, F, Duketis, E, Ebstein, Rp, Edenberg, Hj, Elia, J, Ennis, S, Etain, B, Fanous, A, Farmer, Ae, Ferrier, In, Flickinger, M, Fombonne, E, Foroud, T, Frank, J, Franke, B, Fraser, C, Freedman, R, Freimer, Nb, Freitag, Cm, Friedl, M, Frisén, L, Gallagher, L, Gejman, Pv, Georgieva, L, Gershon, E, Giegling, I, Gill, M, Gordon, Sd, Gordon-Smith, K, Green, Ek, Greenwood, Ta, Grice, De, Gross, M, Grozeva, D, Guan, W, Gurling, H, De Haan, L, Haines, Jl, Hakonarson, H, Hallmayer, J, Hamilton, Sp, Hamshere, Ml, Hansen, Tf, Hartmann, Am, Hautzinger, M, Heath, Ac, Henders, Ak, Herms, S, Hickie, Ib, Hipolito, M, Hoefels, S, Holsboer, F, Hoogendijk, Wj, Hottenga, Jj, Hultman, Cm, Hus, V, Ingason, A, Ising, M, Jamain, S, Jones, Eg, Jones, I, Jones, L, Tzeng, Jy, Kähler, Ak, Kahn, R, Kandaswamy, R, Keller, Mc, Kennedy, Jl, Kenny, E, Kent, L, Kim, Y, Kirov, Gk, Klauck, Sm, Klei, L, Knowles, Ja, Kohli, Ma, Koller, Dl, Konte, B, Korszun, A, Krabbendam, L, Krasucki, R, Kuntsi, J, Kwan, P, Landén, M, Längström, N, Lathrop, M, Lawrence, J, Lawson, Wb, Leboyer, M, Ledbetter, Dh, Lencz, T, Lesch, Kp, Levinson, Df, Lewis, Cm, Li, J, Lichtenstein, P, Lieberman, Ja, Lin, Dy, Linszen, Dh, Liu, C, Lohoff, Fw, Loo, Sk, Lord, C, Lowe, Jk, Lucae, S, Macintyre, Dj, Madden, Pa, Maestrini, E, Magnusson, Pk, Mahon, Pb, Maier, W, Malhotra, Ak, Mane, Sm, Martin, Cl, Martin, Ng, Matthews, K, Mattingsdal, M, Mccarroll, Sa, Mcghee, Ka, Mcgough, Jj, Mcgrath, Pj, Mcguffin, P, Mcinnis, Mg, Mcintosh, A, Mckinney, R, Mclean, Aw, Mcmahon, Fj, Mcmahon, Wm, Mcquillin, A, Medeiros, H, Medland, Se, Meier, S, Melle, I, Meyer, J, Middeldorp, Cm, Middleton, L, Milanova, V, Miranda, A, Monaco, A, Montgomery, Gw, Moran, Jl, Moreno-De-Luca, D, Morken, G, Morris, Dw, Morrow, Em, Moskvina, V, Muglia, P, Mühleisen, Tw, Muir, Wj, Müller-Myhsok, B, Murtha, M, Myers, Rm, Myin-Germeys, I, Neale, Mc, Nelson, Sf, Nievergelt, Cm, Nikolov, I, Nimgaonkar, V, Nolen, Wa, Nöthen, Mm, Nwulia, Ea, Nyholt, Dr, Oades, Rd, Olincy, A, Oliveira, G, Olsen, L, Ophoff, Ra, Osby, U, Owen, Mj, Palotie, A, Parr, Jr, Paterson, Ad, Pato, Cn, Pato, Mt, Penninx, Bw, Pergadia, Ml, Pericak-Vance, Ma, Pickard, B, Pimm, J, Piven, J, Potash, Jb, Poustka, F, Propping, P, Puri, V, Quested, Dj, Quinn, Em, Ramos-Quiroga, Ja, Rasmussen, Hb, Raychaudhuri, S, Rehnström, K, Reif, A, Ribasés, M, Rice, Jp, Rietschel, M, Roeder, K, Roeyers, H, Rothenberger, A, Rouleau, G, Ruderfer, D, Rujescu, D, Sanders, Ar, Sanders, Sj, Santangelo, Sl, Sergeant, Ja, Schachar, R, Schalling, M, Schatzberg, Af, Scheftner, Wa, Schellenberg, Gd, Scherer, Sw, Schork, Nj, Schulze, Tg, Schumacher, J, Schwarz, M, Scolnick, E, Scott, Lj, Shi, J, Shilling, Pd, Shyn, Si, Silverman, Jm, Slager, Sl, Smalley, Sl, Smit, Jh, Smith, En, Sonuga-Barke, Ej, St Clair, D, State, M, Steffens, M, Steinhausen, Hc, Strauss, J, Strohmaier, J, Stroup, T, Sutcliffe, J, Szatmari, P, Szelinger, S, Thirumalai, S, Thompson, Rc, Todorov, Aa, Tozzi, F, Treutlein, J, Uhr, M, van den Oord, Jc, Van Grootheest, G, Van Os, J, Vicente, A, Vieland, Vj, Vincent, Jb, Visscher, Pm, Walsh, Ca, Wassink, Th, Watson, Sj, Weissman, Mm, Werge, T, Wienker, Tf, Wijsman, Em, Willemsen, G, Williams, N, Willsey, Aj, Witt, Sh, Xu, W, Young, Ah, Yu, Tw, Zammit, S, Zandi, Pp, Zhang, P, Zitman, Fg, Zöllner, S, Devlin, B, Kelsoe, Jr, Sklar, P, Daly, Mj, O'Donovan, Mc, Craddock, N, Kendler, K, Weiss, La, Wray, Nr, Zhao, Z, Geschwind, Dh, Sullivan, Pf, Smoller, Jw, Holmans, Pa, Breen, G., Génétique de l'autisme = Genetics of Autism (NPS-01), Neuroscience Paris Seine (NPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Human genetics, Psychiatry, NCA - Brain mechanisms in health and disease, NCA - Neurobiology of mental health, EMGO - Mental health, Child and Adolescent Psychiatry / Psychology, Epidemiology, Gastroenterology & Hepatology, Hematology, University of St Andrews. School of Medicine, University of St Andrews. Institute of Behavioural and Neural Sciences, Psychiatrie & Neuropsychologie, MUMC+: MA Psychiatrie (3), MUMC+: Hersen en Zenuw Centrum (3), RS: MHeNs - R2 - Mental Health, ANS - Amsterdam Neuroscience, Adult Psychiatry, Child Psychiatry, Universitat de Barcelona, Perceptual and Cognitive Neuroscience (PCN), Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Clinical Cognitive Neuropsychiatry Research Program (CCNP), Neurosciences Paris Seine (NPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Complex Trait Genetics, Biological Psychology, Educational Neuroscience, Clinical Neuropsychology, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, LEARN! - Social cognition and learning, LEARN! - Brain, learning and development, Neuroscience Campus Amsterdam - Neurobiology of Mental Health, EMGO+ - Mental Health, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), O'Dushlaine, Colm, Rossin, Lizzy, Lee, Phil H, Duncan, Laramie, Lee, S Hong, Breen, Gerome, International Inflammatory Bowel Disease Genetics Consortium (IIBDGC), Network and Pathway Analysis Subgroup of the Psychiatric Genomics Consortium, and Myin-Germeys, Inez
Subjects: Netherlands Twin Register (NTR), Statistical methods, Autism, Medizin, LOCI, Genome-wide association study, heritability, Genome-wide association studies, Histones, Genètica mèdica, 0302 clinical medicine, Histone methylation, Databases, Genetic, 2.1 Biological and endogenous factors, Psychology, GWAS, Aetiology, Psychiatric genetics, R2C, bipolar disorder, Psychiatry, 0303 health sciences, Disorders, Loci, Depression, General Neuroscience, Mental Disorders, Medical genetics, METHYLATION, Brain, 3rd-DAS, Serious Mental Illness, Psychiatric Disorders, 3. Good health, Histone, Mental Health, Schizophrenia, Mental Disorder, Cognitive Sciences, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Promoters, BDC, BURDEN, RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry, Human, Signal Transduction, medicine.medical_specialty, DISORDERS, Genomics, Network and Pathway Analysis Subgroup of Psychiatric Genomics Consortium, Burden, Biology, Methylation, Article, Biological pathway, PROMOTERS, 03 medical and health sciences, Databases, Genetic, medicine, Genetics, Humans, Genetic Predisposition to Disease, histone methylation, Bipolar disorder, Psiquiatria, AUTISM, 030304 developmental biology, Genetic association, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Neurology & Neurosurgery, Neuroscience (all), Human Genome, Neurosciences, medicine.disease, Brain Disorders, Good Health and Well Being, DE-NOVO MUTATIONS, Perturbações do Desenvolvimento Infantil e Saúde Mental, RC0321, Genome-wide Association Studies, De-novo mutations, major depression, Neuroscience, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract: G.B. and S.N. acknowledge funding support for this work from the National Institute for Health Research (NIHR) Mental Health Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College London. P.H.L. is supported by US National Institute of Mental Health (NIMH) grant K99MH101367. Genome-wide association studies (GWAS) of psychiatric disorders have identified multiple genetic associations with such disorders, but better methods are needed to derive the underlying biological mechanisms that these signals indicate. We sought to identify biological pathways in GWAS data from over 60,000 participants from the Psychiatric Genomics Consortium. We developed an analysis framework to rank pathways that requires only summary statistics. We combined this score across disorders to find common pathways across three adult psychiatric disorders: schizophrenia, major depression and bipolar disorder. Histone methylation processes showed the strongest association, and we also found statistically significant evidence for associations with multiple immune and neuronal signaling pathways and with the postsynaptic density. Our study indicates that risk variants for psychiatric disorders aggregate in particular biological pathways and that these pathways are frequently shared between disorders. Our results confirm known mechanisms and suggest several novel insights into the etiology of psychiatric disorders. Postprint
Published: 2015
Full Text: View/download PDF

19. Basic Scale on Insomnia complaints and Quality of Sleep (BaSIQS): Reliability, initial validity and normative scores in higher education students

Author: Daniel Ruivo Marques, Carlos Fernandes da Silva, José Tavares, Maria Helena Pinto de Azevedo, Mariana S. Meia-Via, Ana Allen Gomes, and Ana Maria Meia-Via
Subjects: Adult, Male, Higher education, Psychometrics, Adolescent, Universities, Physiology, Sample (statistics), Pittsburgh Sleep Quality Index, Young Adult, Physiology (medical), Sleep Initiation and Maintenance Disorders, Surveys and Questionnaires, Insomnia, medicine, Humans, Students, Reliability (statistics), business.industry, Reproducibility of Results, Circadian Rhythm, Scale (social sciences), Normative, Female, medicine.symptom, business, Psychology, Sleep, Clinical psychology
Abstract: Based on successive samples totaling more than 5000 higher education students, we scrutinized the reliability, structure, initial validity and normative scores of a brief self-report seven-item scale to screen for the continuum of nighttime insomnia complaints/perceived sleep quality, used by our team for more than a decade, henceforth labeled the Basic Scale on Insomnia complaints and Quality of Sleep (BaSIQS). In study/sample 1 (n = 1654), the items were developed based on part of a larger survey on higher education sleep-wake patterns. The test-retest study was conducted in an independent small group (n = 33) with a 2-8 week gap. In study/sample 2 (n = 360), focused mainly on validity, the BaSIQS was completed together with the Pittsburgh Sleep Quality Index (PSQI). In study 3, a large recent sample of students from universities all over the country (n = 2995) answered the BaSIQS items, based on which normative scores were determined, and an additional question on perceived sleep problems in order to further analyze the scale's validity. Regarding reliability, Cronbach alpha coefficients were systematically higher than 0.7, and the test-retest correlation coefficient was greater than 0.8. Structure analyses revealed consistently satisfactory two-factor and single-factor solutions. Concerning validity analyses, BaSIQS scores were significantly correlated with PSQI component scores and overall score (r = 0.652 corresponding to a large association); mean scores were significantly higher in those students classifying themselves as having sleep problems (p
Published: 2015

20. Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia

Author: Pamela Sklar, H M Medeiros, Célia Barreto Carvalho, Wolfgang Maier, Margot Albus, Sibylle G. Schwab, G N Rockwell, Tracey L. Petryshen, Maria Helena Pinto de Azevedo, Kimberly A. Aldinger, Mátyás Trixler, A R Tahl, Shaun Purcell, Peter Eichhammer, Christopher P. Morley, Carlos N. Pato, Dieter B. Wildenauer, Andrew Kirby, M T Pato, Karen L. Gentile, António Macedo, Frank A. Middleton, Mark J. Daly, L McGann, and Skye G. Waggoner
Subjects: Candidate gene, Linkage disequilibrium, GABRA6, Locus (genetics), Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Cellular and Molecular Neuroscience, Reference Values, Germany, Gene cluster, Humans, Genetic Predisposition to Disease, Molecular Biology, Gene, Oligonucleotide Array Sequence Analysis, Genetics, Portugal, biology, Haplotype, Chromosome Mapping, Receptors, GABA-A, Molecular biology, Pedigree, Psychiatry and Mental health, Haplotypes, Schizophrenia, biology.protein, Chromosomes, Human, Pair 5
Abstract: We previously performed a genome-wide linkage scan in Portuguese schizophrenia families that identified a risk locus on chromosome 5q31-q35. This finding was supported by meta-analysis of 20 other schizophrenia genome-wide scans that identified 5q23.2-q34 as the second most compelling susceptibility locus in the genome. In the present report, we took a two-stage candidate gene association approach to investigate a group of gamma-aminobutyric acid (GABA) A receptor subunit genes (GABRA1, GABRA6, GABRB2, GABRG2, and GABRP) within our linkage peak. These genes are plausible candidates based on prior evidence for GABA system involvement in schizophrenia. In the first stage, associations were detected in a Portuguese patient sample with single nucleotide polymorphisms (SNPs) and haplotypes in GABRA1 (P=0.00062-0.048), GABRP (P=0.0024-0.042), and GABRA6 (P=0.0065-0.0088). The GABRA1 and GABRP findings were replicated in the second stage in an independent German family-based sample (P=0.0015-0.043). Supportive evidence for association was also obtained for a previously reported GABRB2 risk haplotype. Exploratory analyses of the effects of associated GABRA1 haplotypes on transcript levels found altered expression of GABRA6 and coexpressed genes of GABRA1 and GABRB2. Comparison of transcript levels in schizophrenia patients and unaffected siblings found lower patient expression of GABRA6 and coexpressed genes of GABRA1. Interestingly, the GABRA1 coexpressed genes include synaptic and vesicle-associated genes previously found altered in schizophrenia prefrontal cortex. Taken together, these results support the involvement of the chromosome 5q GABAA receptor gene cluster in schizophrenia, and suggest that schizophrenia-associated haplotypes may alter expression of GABA-related genes.
Published: 2005
Full Text: View/download PDF

21. A Linkage Study Between the GABAA β2 and GABAAγ2 Subunit Genes and Major Psychoses

Author: James L. Kennedy, Maria Helena Pinto de Azevedo, Catarina R. Oliveira, Alda M. Ambrósio, Nicole King, Fabio Macciardi, and Carlos N. Pato
Subjects: Bipolar Disorder, Genetic Linkage, Protein subunit, Prefrontal Cortex, Biology, Polymerase Chain Reaction, GABAA-rho receptor, Genetic linkage, Humans, Gene, Genetics, Polymorphism, Genetic, GABAA receptor, Intron, Receptors, GABA-A, Phenotype, Introns, Protein Subunits, Psychiatry and Mental health, Psychotic Disorders, Receptors, GABA-B, nervous system, Population Surveillance, Schizophrenia, Neurology (clinical), Restriction fragment length polymorphism
Abstract: Background:Alterations of the γ-aminobutyric acid (GABA) system have been implicated in the pathophysiology of major psychoses.Objective:Restriction fragment length polymorphisms associated with the human γ-aminobutyric acid type A (GABAA) β2 and GABAA γ2 subunit genes on chromosome 5q32-q35 were tested to determine whether they confer susceptibility to major psychoses.Methods:Thirty-two schizophrenic families and 25 bipolar families were tested for linkage.Results:Nonparametric linkage (NPL) analysis performed by GENEHUNTER showed no significant NPL scores for both genes in schizophrenia (GABAAβ2: NPL narrow=−0.450; NPL broad=−0.808; GABAA γ2: NPL narrow=0.177; NPL broad=−0.051) or bipolar disorder (GABAA β2: NPL narrow=0.834; NPL broad=0.783; GABAA γ2: NPL narrow=−0.159; NPL broad=0.070).Conclusion:Linkage analysis does not support the hypothesis that variants within the GABAA β2 and GABAA γ2 genes are significantly linked to major psychoses in a Portuguese population.
Published: 2005
Full Text: View/download PDF

22. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

Author: Laura J. Scott, Bernie Devlin, Steven A. McCarroll, James S. Sutcliffe, Stefan Herms, Yunjung Kim, Richard O. Day, Thomas F. Wienker, Frank Dudbridge, I. Nicol Ferrier, Bettina Konte, Marta Ribasés, C. Robert Cloninger, Brenda W.J.H. Penninx, Detelina Grozeva, Herbert Roeyers, Peter Holmans, Colm O'Dushlaine, Scott D. Gordon, Sarah E. Bergen, Fan Meng, Morten Mattingsdal, Hugh Gurling, Ina Giegling, Gerard van Grootheest, Ania Korszun, Markus J. Schwarz, George Kirov, Sebastian Zöllner, Kenneth S. Kendler, Nicholas G. Martin, Michael Conlon O'Donovan, Michael C. Neale, Jim van Os, Aravinda Chakravarti, Timothy W. Yu, Mikael Landén, Inez Myin-Germeys, Markus M. Nöthen, Kathryn Roeder, James B. Potash, Alan W. McLean, Louise Gallagher, Anna K. Kähler, Thomas Bettecken, Nigel Williams, Frank Bellivier, Joseph D. Buxbaum, Derek W. Morris, Susan L. Smalley, Jung-Ying Tzeng, Martin Schalling, Douglas M. Ruderfer, Caroline M. Nievergelt, T. Scott Stroup, David H. Ledbetter, Jennifer Crosbie, Anita Thapar, Barbara Franke, Jeffrey A. Lieberman, Huda Akil, Miguel Casas, Daniel H. Geschwind, Paul Cormican, Bertram Müller-Myhsok, Lyudmila Georgieva, Robert Krasucki, Martin Hautzinger, Alysa E. Doyle, Cinnamon S. Bloss, Gerard D. Schellenberg, Todd Lencz, Melvin G. McInnis, Catalina Betancur, Josep Antoni Ramos-Quiroga, Stephen Sanders, Eftichia Duketis, Don H. Linszen, Matthew W. State, Richard M. Myers, Soumya Raychaudhuri, Lizzy Rossin, Howard J. Edenberg, Michael E. Goddard, S. Hong Lee, Elisabeth B. Binder, Pablo V. Gejman, William A. Scheftner, Wolfgang Maier, Judith A. Badner, Christel M. Middeldorp, Maria Helena Pinto de Azevedo, Johannes H. Smit, Willem A. Nolen, Lieuwe de Haan, Gonneke Willemsen, Keith Matthews, Ellen M. Wijsman, Jennifer K. Lowe, Rebecca McKinney, Magdalena Gross, Dorothy E. Grice, James A. Knowles, Andrew C. Heath, Jana Strohmaier, Vishwajit L. Nimgaonkar, William Byerley, William E. Bunney, Dan E. Arking, Andrew McQuillin, William M. McMahon, Manuel Mattheisen, Hans-Christoph Steinhausen, Joseph Biederman, Guy A. Rouleau, James J. McGough, Sian Caesar, Edward M. Scolnick, Lefkos T. Middleton, Jack D. Barchas, Ian B. Hickie, Danyu Lin, Patrik K. E. Magnusson, Douglas Blackwood, Francis J. McMahon, Ingrid Agartz, Elena Maestrini, Marian L. Hamshere, Lindsey Kent, Walter J. Muir, Stephan Ripke, Lydia Krabbendam, Christine Fraser, Maria Hipolito, Louise Frisén, Eric Fombonne, Emma M. Quinn, Michael Bauer, Richard P. Ebstein, Michael Steffens, Jordan W. Smoller, Stanley J. Watson, Michael Boehnke, Philip Asherson, Agatino Battaglia, Elliot S. Gershon, Russell Schachar, Marcus Ising, Peng Zhang, Margaret A. Pericak-Vance, Joachim Hallmayer, Sean Ennis, Radhika Kandaswamy, René S. Kahn, Susanne Hoefels, Thomas W. Mühleisen, Pamela Sklar, Paul Lichtenstein, Verneri Anttila, Michael L. Cuccaro, Florian Holsboer, René Breuer, Eric M. Morrow, Vinay Puri, Naomi R. Wray, Szabocls Szelinger, Sabine M. Klauck, John B. Vincent, Shrikant Mane, Aribert Rothenberger, Marion Friedl, Ian Jones, Khalid Choudhury, Michael R. Barnes, Adebayo Anjorin, Edwin H. Cook, William Lawson, Allan H. Young, Lambertus Klei, Bryan J. Mowry, Johannes Schumacher, Michael Gill, James L. Kennedy, Marcella Rietschel, Aiden Corvin, Henrik B. Rasmussen, Susmita Datta, Kimberly Chambert, Daniel Moreno-De-Luca, Benjamin S. Pickard, Stan F. Nelson, Veronica J. Vieland, Stephen W. Scherer, Peter M. Visscher, John Strauss, Andreas Reif, Andrew D. Paterson, Ann Olincy, Phoenix Kwan, Anthony J. Bailey, Patrick F. Sullivan, Pierandrea Muglia, Gunnar Morken, Susanne Lucae, Ayman H. Fanous, Jacob Lawrence, Donald J. MacIntyre, Nancy G. Buccola, Rita M. Cantor, Christina M. Hultman, Weihua Guan, Anthony P. Monaco, Jouke-Jan Hottenga, Elaine Kenny, Jianxin Shi, Dale R. Nyholt, Kevin A. McGhee, Falk W. Lohoff, Jonna Kuntsi, Niklas Långström, John I. Nurnberger, Nelson B. Freimer, Erin N. Smith, John P. Rice, Michael T. Murtha, Thomas H. Wassink, Alexandre A. Todorov, Edmund J.S. Sonuga-Barke, Dan Rujescu, Roy H. Perlis, John S. Witte, Christopher A. Walsh, Matthew C. Keller, Pamela B. Mahon, Patrick J. McGrath, Susan L. Santangelo, Annette M. Hartmann, Ole A. Andreassen, Tatiana Foroud, Shaun Purcell, Josef Frank, Douglas F. Levinson, William Coryell, Ana Miranda, Alan F. Schatzberg, Peter Szatmari, Jun Li, Gerome Breen, Stephen V. Faraone, Anil K. Malhotra, Helena Medeiros, Martin A. Kohli, Nicholas Bass, Catherine Lord, Peter Propping, Wei Xu, Federica Tozzi, Ivan Nikolov, Jan K. Buitelaar, Thomas G. Schulze, Katherine Gordon-Smith, Michele L. Pergadia, Fritz Poustka, Valentina Moskvina, David Curtis, Tobias Banaschewski, Devin Absher, Danielle Posthuma, Stanley Zammit, Gary Donohoe, Ingrid Melle, Karola Rehnström, Thomas Hansen, Myrna M. Weissman, Stanley I. Shyn, Hakon Hakonarson, Christa Lese Martin, Digby Quested, Darina Czamara, Jeremy R. Parr, Pamela A. F. Madden, Jens Treutlein, Aarno Palotie, Robert Freedman, Sandra Meier, Bru Cormand, Nicholas J. Schork, Michele T. Pato, John R. Kelsoe, Vanessa Hus, Frans G. Zitman, Josephine Elia, David St Clair, Roel A. Ophoff, Peter McGuffin, Jonathan Pimm, Jonathan L. Haines, Wiepke Cahn, Matthew Flickinger, Steven P. Hamilton, Michael John Owen, Paul D. Shilling, Jeremy M. Silverman, David Craig, Mark J. Daly, Sarah E. Medland, Robert D. Oades, Marion Leboyer, Alan R. Sanders, Vihra Milanova, Chunyu Liu, Jobst Meyer, Dorret I. Boomsma, Evaristus A. Nwulia, Thomas B. Barrett, Jennifer L. Moran, Donald W. Black, Mònica Bayés, Witte J.G. Hoogendijk, Franziska Degenhardt, Benjamin M. Neale, Daniel L. Koller, Carlos N. Pato, Nicholas John Craddock, Richard Bruggeman, Enda M. Byrne, Edward G. Jones, Eco J. C. de Geus, Stéphane Jamain, Jubao Duan, Anne Farmer, Astrid M. Vicente, Grant W. Montgomery, Thomas Werge, Cathryn M. Lewis, Srdjan Djurovic, Phil Lee, Richard Anney, Elaine K. Green, Wade H. Berrettini, Peter P. Zandi, Susan L. Slager, Stephanie H. Witt, Ian W. Craig, Lisa Jones, Sven Cichon, Bruno Etain, Mark Lathrop, Hilary Coon, Robert C. Thompson, Lena Backlund, A. Jeremy Willsey, Andres Ingason, Christine M. Freitag, Sandra K. Loo, Guiomar Oliveira, Line Olsen, Edwin J. C. G. van den Oord, Geraldine Dawson, Joseph A. Sergeant, David A. Collier, Farooq Amin, Srinivasa Thirumalai, Manfred Uhr, Joseph Piven, Andrew M. McIntosh, Anjali K. Henders, Urban Ösby, Klaus-Peter Lesch, Tiffany A. Greenwood, Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Perceptual and Cognitive Neuroscience (PCN), Lee, S Hong, Ripke, Stephan, Neale, Benjamin M, Faraone, Stephen V, Wray, Naomi R, Cross-Disorder Group of the Psychiatric Genomics Consortium, International Inflammatory Bowel Disease Genetics Consortium (IIBDGC), Queensland Brain Institute, University of Queensland [Brisbane], Massachusetts General Hospital [Boston], Harvard Medical School [Boston] (HMS), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], SUNY Upstate Medical University, State University of New York (SUNY), Mount Sinai School of Medicine, Department of Psychiatry-Icahn School of Medicine at Mount Sinai [New York] (MSSM), Psychiatric and Neurodevelopmental Genetics Unit, Queensland Centre for Mental Health Research, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, MRC Centre for Neuropsychiatric Genetics and Genomics, Medical Research Council (MRC)-School of Medicine [Cardiff], Cardiff University-Institute of Medical Genetics [Cardiff]-Cardiff University-Institute of Medical Genetics [Cardiff], New South Wales Department of Primary Industries (NSW DPI), Faculty of Land and Food Resources, University of Melbourne, HudsonAlpha Institute for Biotechnology [Huntsville, AL], Institute of Clinical Medicine [Oslo], Faculty of Medicine [Oslo], University of Oslo (UiO)-University of Oslo (UiO), Diakonhjemmet Hospital, University of Michigan [Ann Arbor], University of Michigan System, Molecular and Behavioral Neuroscience Institute (MBNI), University of Michigan System-University of Michigan System, Emory University [Atlanta, GA], Oslo University Hospital [Oslo], University College of London [London] (UCL), Trinity College Dublin, Johns Hopkins University School of Medicine [Baltimore], MRC Social Genetic Developmental and Psychiatry Centre, Institute of Psychiatry, King's College London, University of Coimbra [Portugal] (UC), Karolinska Institutet [Stockholm], University of Chicago, University of British Columbia (UBC), Department of Child and Adolescent Psychiatry and Psychotherapy [Mannheim], Universität Heidelberg [Heidelberg] = Heidelberg University, Weill Medical College of Cornell University [New York], GlaxoSmithKline, Glaxo Smith Kline, Portland Veterans Administration Medical Center, Windeyer Institute for Medical Sciences, IRCCS Fondazione Stella Maris [Pisa], University Hospital Carl Gustav Carus [Dresden, Germany], Technische Universität Dresden = Dresden University of Technology (TU Dresden), Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Diderot - Paris 7 (UPD7), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), European Network of Bipolar Research Expert Centres (ENBREC), ENBREC, Department of Psychiatry [Philadelphia], University of Pennsylvania, Physiopathologie des Maladies du Système Nerveux Central, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Unité de recherche Phytopharmacie et Médiateurs Chimiques (UPMC), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Max Planck Institute of Psychiatry, Max-Planck-Gesellschaft, Massachusetts General Hospital [Boston, MA, USA], University of Iowa [Iowa City], University of Edinburgh, Royal Hospital for Sick Children [Edinburgh], The Scripps Research Institute [La Jolla, San Diego], MRC Social, Genetic and Developmental Psychiatry Centre (SGDP), King‘s College London-The Institute of Psychiatry, Institute of Medical Sciences, University of Aberdeen, Social, Genetic and Developmental Psychiatry Centre (SGDP), King‘s College London, Department of Genetic Epidemiology in Psychiatry [Mannhein], Universität Heidelberg [Heidelberg] = Heidelberg University-Central Institute of Mental Health Mannheim, Department of Psychiatry, University of Groningen [Groningen]-University Medical Center Groningen [Groningen] (UMCG), Trinity College Dublin-St. James's Hospital, School of Nursing, Louisiana State University (LSU), Donders Center for Cognitive Neuroimaging, Donders Centre for Cognitive Neuroimaging, Radboud University [Nijmegen]-Radboud University [Nijmegen], Department of Psychiatry and Human Behavior, University of California [Irvine] (UC Irvine), University of California (UC)-University of California (UC), Friedman Brain Institute, Mount Sinai, Icahn School of Medicine at Mount Sinai [New York] (MSSM), Seaver Autism Center for Research and Treatment, Department of Neuroscience, Departments of Psychiatry, Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai [New York] (MSSM)-Seaver Autism Center-, The Mindich Child Health & Development Institute, Friedman Brain Institute, The Mindich Child Health and Development Institute, University of California [San Francisco] (UC San Francisco), Department of Psychiatry, School of Clinical and Experimental Medicine, University of Alabama at Birmingham [ Birmingham] (UAB), Department of Human Genetics, Los Angeles, David Geffen School of Medicine [Los Angeles], University of California [Los Angeles] (UCLA), University of California (UC)-University of California (UC)-University of California [Los Angeles] (UCLA), McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Stanley Center for Psychiatric Research, Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston]-Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Mental Health Sciences Unit, Department of Genomics, Life and Brain Center, Universität Bonn = University of Bonn, Institute of Human Genetics, Institute of Neuroscience and Medicine (INM-1), Research Center Juelich, Academic Department of Child and Adolescent Psychiatry, Institute of Psychiatry, Department of Disability and Human Development, University of Illinois [Chicago] (UIC), University of Illinois System-University of Illinois System, Department of Developmental Neuroscience, Neuropsychiatric Genetics Research Group, University of California [San Diego] (UC San Diego), John P. Hussman Institute for Human Genomics, University of Miami [Coral Gables], East London NHS Foundation Trust, Queen Mary University of London (QMUL), Max-Planck-Institut für Psychiatrie, Genetics Institute, Autism Speaks and the Department of Psychiatry, University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC)-University of North Carolina System (UNC), School of Neurology, Neurobiology and Psychiatry, Royal Victoria Infirmary, Medstar Research Institute, KG Jebsen Centre for Psychosis Research, University of Oslo (UiO)-Institute of Clinical Medicine-Oslo University Hospital [Oslo], Deparment of Medical Genetics, Human Genetics Branch, National Institutes of Health [Bethesda] (NIH)-National Institute of Mental Health (NIMH), Harvard Medical School [Boston] (HMS)-Massachusetts General Hospital [Boston], Department of Psychiatry and Behavioral Sciences, University of Chicago-NorthShore University Health System, Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine (LSHTM), Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Goethe-Universität Frankfurt am Main, Psychology Department, National University of Singapore (NUS), Department of Biochemistry and Molecular Biology, Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indiana University System-Indiana University System, Academic Centre on Rare Diseases (ACoRD), University College Dublin [Dublin] (UCD), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de psychiatrie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Hôpital Albert Chenevier, Virginia Institute of Psychiatric and Behavioral Genetics, Virginia Commonwealth University (VCU), University of Dundee School of Medicine, University of Dundee, Department of Biostatistics and Center for Statistical Genetics, University of Michigan System-University of Michigan System-School of public health, The University of Hong Kong (HKU)-The University of Hong Kong (HKU), Department of Child Psychiatry, McGill University = Université McGill [Montréal, Canada]-Montreal Children's Hospital, McGill University Health Center [Montreal] (MUHC)-McGill University Health Center [Montreal] (MUHC), Howard University College of Medicine, University of Colorado [Denver], Center for Neurobehavioral Genetics, Department of Genomics, Department of Molecular Medicine, Department of Neurology, University of California (UC)-University of California (UC)-David Geffen School of Medicine [Los Angeles], Medical Research Council-Cardiff University, Department of Psychiatry [Pittsburgh], University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE)-Pennsylvania Commonwealth System of Higher Education (PCSHE), Fisico-Quimica Biologica, Universidade Federal do Rio de Janeiro (UFRJ), Vanderbilt Brain Institute, Vanderbilt University School of Medicine [Nashville], Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania-University of Pennsylvania-Children’s Hospital of Philadelphia (CHOP ), The Center for Applied Genomics, Children’s Hospital of Philadelphia (CHOP ), Stanford School of Medicine [Stanford], Stanford Medicine, Stanford University-Stanford University, Institute for Human Genetics, Neurosciences Centre of Excellence in Drug Discovery, GlaxoSmithKline Research and Development, Center for Genomic Medicine, Copenhagen University Hospital-Rigshospitalet [Copenhagen], Copenhagen University Hospital, Department of Clinical and Developmental Psychology, Eberhard Karls Universität Tübingen = Eberhard Karls University of Tuebingen, Clinical Research Unit, Brain & Mind Research Institute-The University of Sydney, Functional Genomics, Neuronal Plasticity / Mouse Behaviour, Erasmus University Medical Center [Rotterdam] (Erasmus MC), Department of Medical Epidemiology and Biostatistics (MEB), Autism and Communicative Disorders Centre, Center for Human Genetic Research, Center for neuroscience-University of California [Davis] (UC Davis), Bioinformatics Research Center, North Carolina State University [Raleigh] (NC State), Norwegian University of Science and Technology [Trondheim] (NTNU), Norwegian University of Science and Technology (NTNU)-Norwegian University of Science and Technology (NTNU), Emory University [Atlanta, GA]-Atlanta Veterans Affairs Medical Center, Psychiatric Neurogenetics Section, Centre for Addiction and Mental Health, School of Medicine, University of St Andrews [Scotland], Institute of Human Genetics [Erlangen, Allemagne], Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Division of Molecular Genome Analysis, German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ), Department of Ecology and Evolutionary Biology, Insitute of Neuroscience and Physiology, University of Gothenburg (GU), Institut de Génomique d'Evry (IG), Université Paris-Saclay-Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Developmental Brain and Behaviour Unit, University of Southampton, Division of Psychiatric Genomics, Rheinische Friedrich-Wilhelms-Universität Bonn, Statistical Genetics Group, Department of Human Genetics, Department of Pharmacy and Biotechnology, Alma Mater Studiorum Università di Bologna [Bologna] (UNIBO), Department of Psychiatry and Psychotherapy, Department of Mental Health, Johns Hopkins University and Hospital, W.M. Keck Biotechnology Resource Laboratory, Yale University [New Haven], Institutes of Neuroscience and Health and Society, Newcastle University [Newcastle], Genetic Epidemiology Unit, Queensland Institute of Medical Research, Department of Biomedicine and the Centre for Integrative Sequencing, Aarhus University [Aarhus], Sorlandet Hospital HF, Division of Psychiatry, University of Edinburgh-Royal Edinburgh Hospital, Medical Genetics Section, University of Edinburgh-Western General Hospital, Unit on the Genetic Basis of Mood and Anxiety Disorders, National Institutes of Health [Bethesda] (NIH), Unidade de Neurodesenvolvimento e Autismo (UNDA), Hospital Pediatrico de Coimbra, Division of Mental Health and Addiction, Molecular Psychiatry Laboratory, University of Michigan System-University of Michigan System-Molecular and Behavioral Neuroscience Institute, Research and Development, First Psychiatric Clinic-Alexander University Hospital, Registo Oncológico Regional-Sul, Instituto Português de Oncologia de Francisco Gentil, The Wellcome Trust Centre for Human Genetics [Oxford], University of Oxford, St. Olav's Hospital, Brown University, Department of Molecular Biology, Cell Biology and Biochemistry, Translational Centre for Regenerative Medicine (TRM), Department of Cell Therapy, Universität Leipzig-Universität Leipzig, Human Genetics Department, University of Pittsburgh (PITT), Institute for Biomedical Imaging and Life Science, University Medical Center [Utrecht]-Brain Center Rudolf Magnus, Head of Medical Sequencing, Program in Genetics and Genomic Biology, Hospital for Sick Children-University of Toronto McLaughlin Centre, The Centre for Applied Genomics, Toronto, The Hospital for sick children [Toronto] (SickKids)-University of Toronto-Department of Molecular Genetics-McLaughlin Centre, Carolina Institute for Developmental Disabilities, Analytic and Translational Genetics Unit, Rush University Medical Center [Chicago], Julius-Maximilians-Universität Würzburg (JMU), Washington University in Saint Louis (WUSTL), Department of Statistics, Carnegie Mellon University [Pittsburgh] (CMU), Department of Experimental Clinical and Health Psychology, Universiteit Gent = Ghent University (UGENT), Department of Child and Adolescent Psychiatry, Georg-August-University = Georg-August-Universität Göttingen, Department of Medicine, Centre de Recherche du Centre Hospitalier de l’Université de Montréal (CR CHUM), Centre Hospitalier de l'Université de Montréal (CHUM), Université de Montréal (UdeM)-Université de Montréal (UdeM)-Centre Hospitalier de l'Université de Montréal (CHUM), Université de Montréal (UdeM)-Université de Montréal (UdeM), Departments of Psychiatry and Genetics, Yale School of Medicine [New Haven, Connecticut] (YSM), Maine Medical Center, Free University of Amsterdam, Department of Psychiatry and Behavioral Sciences [Stanford], Pathology and Laboratory Medicine, The Scripps Translational Science Institute and The Scripps Research Institute, Psychiatric Center Nordbaden, Division of Cancer Epidemiology and Genetics, National Cancer Institute [Bethesda] (NCI-NIH), National Institutes of Health [Bethesda] (NIH)-National Institutes of Health [Bethesda] (NIH), The Scripps Translational Science Institute and Scripps Health, Child and Adolescent Psychiatry, Aarhus University Hospital, Molecular Neuropsychiatry and Development Laboratory, Department of Molecular Physiology & Biophysics and Psychiatry, Vanderbilt University [Nashville]-Centers for Human Genetics Research and Molecular Neuroscience, Department of Psychiatry and Behavioural Neurosciences, McMaster University [Hamilton, Ontario]-Offord Centre for Child Studies, The Translational Genomics Research Institute (TGen), Oxford Health NHS Foundation Trust, Marlborough House Secure Unit, Instituto Nacional de Saùde Dr Ricardo Jorge [Portugal] (INSA), BioFIG, Center for Biodiversity, Functional and Integrative Genomics, Battelle Center for Mathematical Medicine, Ohio State University [Columbus] (OSU)-Nationwide Children's Hospital, University of Toronto, Diamantina Institute, Carver College of Medicine [Iowa City], University of Iowa [Iowa City]-University of Iowa [Iowa City], Departments of Biostatistics and Medicine, University of Washington [Seattle], ArcelorMittal Maizières Research SA, ArcelorMittal, Institute of Mental Health, Johns Hopkins Bloomberg School of Public Health [Baltimore], Johns Hopkins University (JHU)-Johns Hopkins University (JHU), Psychiatrie & Neuropsychologie, Farmacologie en Toxicologie, RS: CARIM School for Cardiovascular Diseases, RS: MHeNs School for Mental Health and Neuroscience, Biological Psychology, Educational Neuroscience, Clinical Neuropsychology, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, LEARN! - Social cognition and learning, Biophotonics and Medical Imaging, Neuroscience Campus Amsterdam - Neurobiology of Mental Health, LEARN! - Brain, learning and development, EMGO+ - Mental Health, LEARN!, Neuroscience Campus Amsterdam - Brain Imaging Technology, LaserLaB - Biophotonics and Microscopy, State University of New York (SUNY)-State University of New York (SUNY), Department of Neuroscience and Physiology, Faculty of Land and Environment, Biosciences Research Division, Department of Environment and Primary Industries Victoria, Department of Epidemiology and Biostatistics, University of California [San Francisco] (UCSF), University of California-University of California, Universität Heidelberg [Heidelberg], Cornell University [New York]-Weill Medical College of Cornell University [New York], Bioinformatics, Internal Medicine, Portland Va Medical Center : Ganzini Linda MD, Technische Universität Dresden = Dresden University of Technology (TU Dresden)-University Hospital Carl Gustav Carus, Centro Nacional de Análisis Genómico (CNAG), Parc Científic de Barcelona (PCB), University of Pennsylvania [Philadelphia], Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Clinical and Research Programs in Pediatric Psychopharmacology and Adult ADHD, Division Genetic Epidemiology in Psychiatry, Central Institute of Mental Health [Mannheim], Medical Faculty [Mannheim]-Medical Faculty [Mannheim], Universität Heidelberg [Heidelberg]-Central Institute of Mental Health Mannheim, Radboud university [Nijmegen]-Radboud university [Nijmegen], University of California [Irvine] (UCI), University of California-University of California-University of California [Los Angeles] (UCLA), University of Bonn, University of California-University of California-David Geffen School of Medicine [Los Angeles], Cardiff University-Medical Research Council, University of Pennsylvania [Philadelphia]-University of Pennsylvania [Philadelphia]-Children’s Hospital of Philadelphia (CHOP ), Bureau d'Économie Théorique et Appliquée (BETA), Institut National de la Recherche Agronomique (INRA)-Université de Strasbourg (UNISTRA)-Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Institut de Biologie François JACOB (JACOB), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, University of Oxford [Oxford], Universität Leipzig [Leipzig]-Universität Leipzig [Leipzig], University of Toronto-The Hospital for sick children [Toronto] (SickKids)-Department of Molecular Genetics-McLaughlin Centre, Julius-Maximilians-Universität Würzburg [Wurtzbourg, Allemagne] (JMU), Universiteit Gent = Ghent University [Belgium] (UGENT), University of Göttingen - Georg-August-Universität Göttingen, Yale University School of Medicine, Georg-August-University [Göttingen], ANS - Amsterdam Neuroscience, Adult Psychiatry, Child Psychiatry, Psychiatry, Human genetics, NCA - Brain mechanisms in health and disease, NCA - Neurobiology of mental health, EMGO - Mental health, NCA - Brain imaging technology, Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, Andreassen OA, Anjorin A, Anney R, Anttila V, Arking DE, Asherson P, Azevedo MH, Backlund L, Badner JA, Bailey AJ, Banaschewski T, Barchas JD, Barnes MR, Barrett TB, Bass N, Battaglia A, Bauer M, Bayés M, Bellivier F, Bergen SE, Berrettini W, Betancur C, Bettecken T, Biederman J, Binder EB, Black DW, Blackwood DH, Bloss CS, Boehnke M, Boomsma DI, Breen G, Breuer R, Bruggeman R, Cormican P, Buccola NG, Buitelaar JK, Bunney WE, Buxbaum JD, Byerley WF, Byrne EM, Caesar S, Cahn W, Cantor RM, Casas M, Chakravarti A, Chambert K, Choudhury K, Cichon S, Cloninger CR, Collier DA, Cook EH, Coon H, Cormand B, Corvin A, Coryell WH, Craig DW, Craig IW, Crosbie J, Cuccaro ML, Curtis D, Czamara D, Datta S, Dawson G, Day R, De Geus EJ, Degenhardt F, Djurovic S, Donohoe GJ, Doyle AE, Duan J, Dudbridge F, Duketis E, Ebstein RP, Edenberg HJ, Elia J, Ennis S, Etain B, Fanous A, Farmer AE, Ferrier IN, Flickinger M, Fombonne E, Foroud T, Frank J, Franke B, Fraser C, Freedman R, Freimer NB, Freitag CM, Friedl M, Frisén L, Gallagher L, Gejman PV, Georgieva L, Gershon ES, Geschwind DH, Giegling I, Gill M, Gordon SD, Gordon-Smith K, Green EK, Greenwood TA, Grice DE, Gross M, Grozeva D, Guan W, Gurling H, De Haan L, Haines JL, Hakonarson H, Hallmayer J, Hamilton SP, Hamshere ML, Hansen TF, Hartmann AM, Hautzinger M, Heath AC, Henders AK, Herms S, Hickie IB, Hipolito M, Hoefels S, Holmans PA, Holsboer F, Hoogendijk WJ, Hottenga JJ, Hultman CM, Hus V, Ingason A, Ising M, Jamain S, Jones EG, Jones I, Jones L, Tzeng JY, Kähler AK, Kahn RS, Kandaswamy R, Keller MC, Kennedy JL, Kenny E, Kent L, Kim Y, Kirov GK, Klauck SM, Klei L, Knowles JA, Kohli MA, Koller DL, Konte B, Korszun A, Krabbendam L, Krasucki R, Kuntsi J, Kwan P, Landén M, Långström N, Lathrop M, Lawrence J, Lawson WB, Leboyer M, Ledbetter DH, Lee PH, Lencz T, Lesch KP, Levinson DF, Lewis CM, Li J, Lichtenstein P, Lieberman JA, Lin DY, Linszen DH, Liu C, Lohoff FW, Loo SK, Lord C, Lowe JK, Lucae S, MacIntyre DJ, Madden PA, Maestrini E, Magnusson PK, Mahon PB, Maier W, Malhotra AK, Mane SM, Martin CL, Martin NG, Mattheisen M, Matthews K, Mattingsdal M, McCarroll SA, McGhee KA, McGough JJ, McGrath PJ, McGuffin P, McInnis MG, McIntosh A, McKinney R, McLean AW, McMahon FJ, McMahon WM, McQuillin A, Medeiros H, Medland SE, Meier S, Melle I, Meng F, Meyer J, Middeldorp CM, Middleton L, Milanova V, Miranda A, Monaco AP, Montgomery GW, Moran JL, Moreno-De-Luca D, Morken G, Morris DW, Morrow EM, Moskvina V, Muglia P, Mühleisen TW, Muir WJ, Müller-Myhsok B, Murtha M, Myers RM, Myin-Germeys I, Neale MC, Nelson SF, Nievergelt CM, Nikolov I, Nimgaonkar V, Nolen WA, Nöthen MM, Nurnberger JI, Nwulia EA, Nyholt DR, O'Dushlaine C, Oades RD, Olincy A, Oliveira G, Olsen L, Ophoff RA, Osby U, Owen MJ, Palotie A, Parr JR, Paterson AD, Pato CN, Pato MT, Penninx BW, Pergadia ML, Pericak-Vance MA, Pickard BS, Pimm J, Piven J, Posthuma D, Potash JB, Poustka F, Propping P, Puri V, Quested DJ, Quinn EM, Ramos-Quiroga JA, Rasmussen HB, Raychaudhuri S, Rehnström K, Reif A, Ribasés M, Rice JP, Rietschel M, Roeder K, Roeyers H, Rossin L, Rothenberger A, Rouleau G, Ruderfer D, Rujescu D, Sanders AR, Sanders SJ, Santangelo SL, Sergeant JA, Schachar R, Schalling M, Schatzberg AF, Scheftner WA, Schellenberg GD, Scherer SW, Schork NJ, Schulze TG, Schumacher J, Schwarz M, Scolnick E, Scott LJ, Shi J, Shilling PD, Shyn SI, Silverman JM, Slager SL, Smalley SL, Smit JH, Smith EN, Sonuga-Barke EJ, St Clair D, State M, Steffens M, Steinhausen HC, Strauss JS, Strohmaier J, Stroup TS, Sutcliffe JS, Szatmari P, Szelinger S, Thirumalai S, Thompson RC, Todorov AA, Tozzi F, Treutlein J, Uhr M, van den Oord EJ, Van Grootheest G, Van Os J, Vicente AM, Vieland VJ, Vincent JB, Visscher PM, Walsh CA, Wassink TH, Watson SJ, Weissman MM, Werge T, Wienker TF, Wijsman EM, Willemsen G, Williams N, Willsey AJ, Witt SH, Xu W, Young AH, Yu TW, Zammit S, Zandi PP, Zhang P, Zitman FG, Zöllner S, Devlin B, Kelsoe JR, Sklar P, Daly MJ, O'Donovan MC, Craddock N, Sullivan PF, Smoller JW, Kendler KS, Wray NR, Cardiff University-Medical Research Council (MRC), HudsonAlpha Institute for Biotechnology, The Institute of Psychiatry-King‘s College London, Cornell University-Weill Medical College of Cornell University [New York], Stanford University Medical School, Technische Universität Dresden (TUD)-University Hospital Carl Gustav Carus, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Henri Mondor-Hôpital Albert Chenevier, McGill University-Montreal Children's Hospital, Universidade Federal do Rio de Janeiro [Rio de Janeiro] (UFRJ), Stanford University School of Medicine [Stanford], Stanford University [Stanford], Eberhard Karls Universität Tübingen, Friedrich Alexander University [Erlangen-Nürnberg], Università di Bologna [Bologna] (UNIBO), University of Toronto-The Hospital for Sick Children-Department of Molecular Genetics-McLaughlin Centre, Washington University School of Medicine, Ghent University [Belgium] (UGENT), University of Goettingen, CHUM Research Center, Psychiatry and Behavioral Science, Stanford University School of Medicine [CA, USA], Aalborg Psychiatric Hospital, Aarhus University Hospital, Washington University in St Louis, Instituto Nacional de Saude Dr Ricardo Jorge, Oades, Robert D., Guellaen, Georges, Medical Oncology, Epidemiology, Child and Adolescent Psychiatry / Psychology, and Hematology
Subjects: Netherlands Twin Register (NTR), Medizin, Inheritance Patterns, Social Sciences, AUTISM SPECTRUM DISORDERS, nosology, heritability, COMMON SNPS, 0302 clinical medicine, Crohn Disease, SCHIZOPHRENIA, Child, Psychiatric genetics, Genetics & Heredity, MAJOR DEPRESSIVE DISORDER, RISK, 0303 health sciences, ATTENTION-DEFICIT/HYPERACTIVITY DISORDER, 120 000 Neuronal Coherence, Mental Disorders, Variants, BIPOLAR DISORDER, ASSOCIATION, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], Psychiatric Disorders, CROHNS-DISEASE, 3. Good health, Schizophrenia, genetic association study, Medical genetics, Major depressive disorder, SNPs, Adult, medicine.medical_specialty, genetic etiology, medical genetics, DEFICIT HYPERACTIVITY DISORDER, Biology, Polymorphism, Single Nucleotide, behavioral disciplines and activities, Article, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Heritability, Genetic Heterogeneity, 03 medical and health sciences, Prevalence of mental disorders, mental disorders, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Genetics, medicine, ddc:61, Humans, Attention deficit hyperactivity disorder, Genetic Predisposition to Disease, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, DCN PAC - Perception action and control NCEBP 9 - Mental health, ddc:610, Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie, Psychosomatik und Psychotherapie des Kindes- und Jugendalters, Bipolar disorder, Psychiatry, 030304 developmental biology, Depressive Disorder, Major, Genome, Human, Genetic heterogeneity, medicine.disease, schizophrenia, Attention Deficit Disorder with Hyperactivity, Child Development Disorders, Pervasive, Perturbações do Desenvolvimento Infantil e Saúde Mental, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract: AM Vicente - Cross-Disorder Group of the Psychiatric Genomics Consortium Most psychiatric disorders are moderately to highly heritable. The degree to which genetic variation is unique to individual disorders or shared across disorders is unclear. To examine shared genetic etiology, we use genome-wide genotype data from the Psychiatric Genomics Consortium (PGC) for cases and controls in schizophrenia, bipolar disorder, major depressive disorder, autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). We apply univariate and bivariate methods for the estimation of genetic variation within and covariation between disorders. SNPs explained 17-29% of the variance in liability. The genetic correlation calculated using common SNPs was high between schizophrenia and bipolar disorder (0.68 ± 0.04 s.e.), moderate between schizophrenia and major depressive disorder (0.43 ± 0.06 s.e.), bipolar disorder and major depressive disorder (0.47 ± 0.06 s.e.), and ADHD and major depressive disorder (0.32 ± 0.07 s.e.), low between schizophrenia and ASD (0.16 ± 0.06 s.e.) and non-significant for other pairs of disorders as well as between psychiatric disorders and the negative control of Crohn's disease. This empirical evidence of shared genetic etiology for psychiatric disorders can inform nosology and encourages the investigation of common pathophysiologies for related disorders.
Published: 2013
Full Text: View/download PDF

23. Association study of 83 candidate genes for bipolar disorder in chromosome 6q selected using an evidence-based prioritization algorithm

Author: Maria Helena Pinto de Azevedo, Célia Barreto Carvalho, Ayman H. Fanous, Michele T. Pato, Carlos N. Pato, Susana R. Ferreira, Brion S. Maher, Nirmala Akula, Zhongming Zhao, Jingchun Sun, James A. Knowles, Francis J. McMahon, T. Bernard Bigdeli, and Helena Medeiros
Subjects: Genetic Markers, Linkage disequilibrium, Candidate gene, Bipolar Disorder, Locus (genetics), Single-nucleotide polymorphism, Pedigree chart, Biology, Linkage Disequilibrium, Cellular and Molecular Neuroscience, symbols.namesake, medicine, Humans, Genetic Predisposition to Disease, Bipolar disorder, Genetics (clinical), Genetic association, Genetics, Portugal, medicine.disease, Psychiatry and Mental health, Bonferroni correction, symbols, Chromosomes, Human, Pair 6, Genetic Association, Algorithms, Genome-Wide Association Study
Abstract: Background Prior genome-scans of bipolar disorder have revealed chromosome 6q22 as a promising candidate region. However, linkage disequilibrium (LD) mapping studies have yet to identify replicated susceptibility loci. Methods We analyzed 1,422 LD-tagging single nucleotide polymorphisms (SNPs) in 83 genes to test single-marker and locus-wide evidence of association with bipolar disorder in the NIMH Genetics Initiative bipolar pedigrees and the Portuguese Island Collection (PIC) (N = 1,093 in 528 informative pairs). Both studies previously demonstrated significant evidence of linkage to 6q. SNPs were genotyped using an Illumina iSelect genotyping array which employs the Infinium assay. Evidence of single-marker association was assessed using the generalized disequilibrium test (GDT). Empirical estimates of gene-wide significance were obtained by permutation (via 100,000 gene-dropping simulations) of Fisher's combined test of P-values for each locus. Results No single variant yielded significant experiment-wide evidence of association, for either the combined sample or in each subsample. Our gene-dropping simulations identified nominally significant gene-wide associations with multiple loci, of which NT5DC1 in the NIMH subsample and CCNC in the PIC were the strongest candidates. However, no one gene consistently exceeded empirical significance criteria in both independent samples or survived Bonferroni correction for the number of genes tested. Conclusions Using a gene-based approach to family-based association, we identified gene-wide associations with several genes, though no single locus was significantly associated with bipolar disorder in both cohorts. This suggests that chromosome 6q may harbor multiple susceptibility loci or that complex patterns of LD in this region may confound approaches based on common SNPs. Published 2013. This article is a U.S. Government work and is in the public domain in the USA
Published: 2012

24. Genetic overlap of schizophrenia and bipolar disorder in a high-density linkage survey in the Portuguese Island population

Author: Jingchun Sun, Susana R. Ferreira, James A. Knowles, Michele T. Pato, Brion S. Maher, Zhongming Zhao, Helena Medeiros, Carlos N. Pato, Maria Helena Pinto de Azevedo, Célia Barreto Carvalho, Karen L. Gentile, Ayman H. Fanous, Richard Amdur, Frank A. Middleton, and António Macedo
Subjects: Bipolar Disorder, Genetic Linkage, Population, Statistics, Nonparametric, Cellular and Molecular Neuroscience, Genetic linkage, medicine, Chromosomes, Human, Humans, Bipolar disorder, education, Genetics (clinical), Genetic association, Genetics, Linkage (software), education.field_of_study, Geography, Portugal, Genome, Human, Chromosome, medicine.disease, Health Surveys, Psychiatry and Mental health, Genetics, Population, Psychotic Disorders, Schizophrenia, SNP array
Abstract: Recent family and genome-wide association studies strongly suggest shared genetic risk factors for schizophrenia (SZ) and bipolar disorder (BP). However, linkage studies have not been used to test for statistically significant genome-wide overlap between them. Forty-seven Portuguese families with sibpairs concordant for SZ, BP, or psychosis (PSY, which includes either SZ or psychotic BP) were genotyped for over 57,000 markers using the Affymetrix 50K Xba SNP array. NPL and Kong and Cox LOD scores were calculated in Merlin for all three phenotypes. Empirical significance was determined using 1,000 gene-dropping simulations. Significance of genome-wide genetic overlap between SZ and BP was determined by the number of simulated BP scans having the same number of loci jointly linked with the real SZ scan, and vice versa. For all three phenotypes, a number of regions previously linked in this sample remained so. For BP, chromosome 1p36 achieved significance (11.54-15.71 MB, LOD = 3.51), whereas it was not even suggestively linked at lower marker densities, as did chromosome 11q14.1 (89.32-90.15 MB, NPL = 4.15). Four chromosomes had loci at which both SZ and BP had NPL ≥ 1.98, which was more than would be expected by chance (empirical P = 0.01 using simulated SZ scans; 0.07 using simulated BP scans), although they did not necessarily meet criteria for suggestive linkage individually. These results suggest that high-density marker maps may provide greater power and precision in linkage studies than lower density maps. They also further support the hypothesis that SZ and BP share at least some risk alleles. info:eu-repo/semantics/publishedVersion
Published: 2011

25. Perfectionism and eating behaviour in Portuguese adolescents

Author: Ana Telma Pereira, Maria João Soares, José Valente, Celeste Bento, Maria Helena Pinto de Azevedo, António Macedo, Ana M. P. Gomes, Mariana Marques, Sandra Carvalho Bos, and Berta Maia
Subjects: Male, Adolescent, Social pressure, medicine.disease_cause, Developmental psychology, Young Adult, Sex Factors, medicine, Humans, Drive for thinness, Eating behaviour, Association (psychology), Analysis of Variance, Portugal, digestive, oral, and skin physiology, Perfectionism (psychology), Feeding Behavior, medicine.disease, language.human_language, Psychiatry and Mental health, Clinical Psychology, Eating disorders, language, Eating Attitudes Test, Regression Analysis, Female, Portuguese, Psychology, Attitude to Health, Clinical psychology, Personality
Abstract: Objectives The main objective was to investigate the association between perfectionism and eating behaviour in a non-clinical sample of adolescents of both genders. Method 997 middle and high school students completed the Portuguese versions of the child-adolescent perfectionism scale (CAPS) and of the eating attitudes test -25 (EAT- 25). Results In both genders, the perfectionism total score and the sociallyprescribed perfectionism (SPP) score were positive and significantly correlated with the EAT total score and with all EAT dimensions: Drive for Thinness (DT), Bulimic Related Behaviour (BRB), Social Pressure to Eat (SPE). In girls, self-oriented perfectionism (SOP) was also associated with the EAT total score and its dimensions, whereas in boys it was only associated with EAT total score and DT. In both genders SPP was a useful predictor of the EAT-25 total score and of all its dimensions. In which respects SOP, there were some gender differences showing that in boys this dimension should not be considered a predictor of eating behaviours. Conclusion These results confirm that high levels of perfectionism (SOP and SPP) are associated with abnormal eating behaviour in both genders. Copyright © 2010 John Wiley & Sons, Ltd and Eating Disorders Association.
Published: 2010

26. The postpartum depression screening scale: is it valid to screen for antenatal depression?

Author: António Macedo, Maria João Soares, Ana Allen Gomes, Sandra Carvalho Bos, Berta Maia, Ana Telma Pereira, Maria Helena Pinto de Azevedo, José Valente, and Mariana Marques
Subjects: Postpartum depression, Adult, medicine.medical_specialty, Psychometrics, Context (language use), Depression, Postpartum, Young Adult, Pregnancy, Surveys and Questionnaires, medicine, Humans, Mass Screening, Medical diagnosis, Psychiatry, Depression (differential diagnoses), Portugal, Depression, Obstetrics and Gynecology, Reproducibility of Results, Translating, medicine.disease, Checklist, Pregnancy Complications, Psychiatry and Mental health, Antenatal depression, Diagnostic Interview for Genetic Studies, Female, Pregnancy Trimesters, Psychology, Clinical psychology
Abstract: The purpose of the study was to analyse for the first time the validity of a slightly modified version of the Portuguese Postpartum Depression Screening Scale (PDSS), to be used as a screening instrument for antenatal depression. Specifically, the aims were to analyse its psychometric properties, to determine PDSS cutoff points and associated conditional probabilities to screen for depression according to DSM-IV and ICD-10 criteria and to compare its screening performance with that of the Beck Depression Inventory-II (BDI-II). Five hundred and three pregnant women in the third trimester of pregnancy completed both questionnaires and were interviewed face-to-face with the Portuguese version of the Diagnostic Interview for Genetic Studies. The Portuguese version of the Operational Criteria Checklist for Psychotic Illness was used to obtain DSM-IV and ICD-10 diagnoses of depression, our gold standards for caseness. PDSS reliability and validity were very good and comparable to those obtained in the postpartum validation studies developed in Portugal and in other countries, showing satisfactory sensitivity and specificity combinations (≅80%). Compared with BDI-II, it has the advantage of being more specific for the motherhood context. Although developed for postpartum depression, PDSS is accurate to screen for antenatal depression, and it could be very useful for clinical and epidemiologic purposes.
Published: 2010

27. Longitudinal study on perfectionism and sleep disturbance

Author: Sandra Carvalho Bos, Mariana Marques, Maria João Soares, Berta Maia, Ana Allen Gomes, Ana Telma Pereira, Maria Helena Pinto de Azevedo, and António Macedo
Subjects: Adult, Male, Personality Tests, Sleep Wake Disorders, medicine.medical_specialty, Longitudinal study, Adolescent, media_common.quotation_subject, medicine.disease_cause, Young Adult, medicine, Insomnia, Personality, Humans, Longitudinal Studies, Young adult, Psychiatry, Biological Psychiatry, Persistent insomnia, media_common, Sleep Stages, Sleep disorder, Perfectionism (psychology), medicine.disease, Psychiatry and Mental health, Physical therapy, Regression Analysis, Female, medicine.symptom, Psychology, Sleep
Abstract: To examine if perfectionism predicts self-reported sleep disturbances over time.The Hewitt-Flett Perfectionism Scale was used to assess self-oriented, socially-prescribed (SPP) and other-oriented perfectionism. Sleep disturbance was evaluated with two items: difficulty in falling asleep and waking up many times during the night. Out of 870 students who participated at baseline, 592 and 305 completed the same measures 1 year (T1) and 2 years later (T2), respectively.Subjects who reported insomnia at baseline, T1 and T2 (persistent insomnia) had significantly higher scores of baseline SPP (T1 M = 51.5, SD = 15.8; T2 M = 55.0, SD = 19.0) than subjects reporting, in all stages of the study, never/rarely having had sleep problems (T1 M = 41.9, SD = 11.4; T2 M = 42.2, SD = 12.3, P0.001 in both cases). Regression analyses showed that baseline SPP was the only significant positive predictor of difficulties in falling asleep at T1 and T2 (T1 partial R=0.187; T2 partial R=0.196, P0.001) and of difficulties maintaining sleep (T1 partial R=0.116; T2 partial R=0.244, P0.001).SPP was found to be the most reliable predictor of sleep disturbances over time, which constitutes a new important finding.
Published: 2010

28. Perfectionism in obsessive-compulsive and eating disorders

Author: José Valente, António Macedo, Michele T. Pato, Ana Telma Pereira, Maria Helena Pinto de Azevedo, Fernando Pocinho, Maria João Soares, Ana Allen Gomes, Berta Maia, Sandra Carvalho Bos, Mariana Marques, and Ana M. T. D. P. V. Cabral
Subjects: Male, 050103 clinical psychology, Obsessive-Compulsive Disorder, media_common.quotation_subject, Anxiety, medicine.disease_cause, Feeding and Eating Disorders, 03 medical and health sciences, 0302 clinical medicine, Obsessive compulsive, Surveys and Questionnaires, medicine, Obsessive-compulsive disorder, Personality, Humans, 0501 psychology and cognitive sciences, Depression (differential diagnoses), media_common, Depression, 05 social sciences, Multidimensional perfectionism, Perfectionism (psychology), medicine.disease, 030227 psychiatry, 3. Good health, Psychiatry and Mental health, Eating disorders, Case-Control Studies, Female, medicine.symptom, Psychology, Clinical psychology
Abstract: Objective: The main aims of this article are twofold. First, to assess perfectionism dimensions in obsessive-compulsive disorder and eating disorders in comparison with psychiatric control (depression/anxiety) and non-clinical control groups. Second, to examine if perfectionism is specifically related to these different clinical conditions. Method: Thirty-nine outpatients with obsessive-compulsive disorder, 24 outpatients with eating disorders, 65 outpatients with a diagnosis of depression and/or anxiety, and 70 non-clinical participants completed the Portuguese version of the Multidimensional Perfectionism Scale. Results: Compared to non-clinical subjects, individuals of all clinical samples had significantly higher scores on Multidimensional Perfectionism Scale total score, Self-Oriented and Socially-Prescribed Perfectionism. There were no significantly differences in Self-Oriented Perfectionism and Multidimensional Perfectionism Scale total score in all the three clinical samples. Subjects from the eating disorders sample had significantly higher scores of Socially-Prescribed Perfectionism in comparison to obsessive-compulsive disorder and psychiatric control samples. Conclusion: Perfectionism showed to be related with this broad range of psychopathologies. However, the differences between eating disorders versus obsessive-compulsive disorder and psychiatric control on Socially-Prescribed Perfectionism warrant further investigation in order to clarify the specificity of this perfectionism dimension in eating disorders. Descriptors: Personality; Obsessive-compulsive disorder; Eating disorders; Depression; Anxiety
Published: 2009

29. Perfectionism and sleep disturbance

Author: Berta Maia, Ana Telma Pereira, Sandra Carvalho Bos, Maria Helena Pinto de Azevedo, Maria João Soares, Ana Allen Gomes, António Macedo, and Mariana Marques
Subjects: Adult, Male, Sleep Wake Disorders, Adolescent, Sleep disturbance, medicine.disease_cause, Young Adult, medicine, Humans, Sex Distribution, Social Behavior, Students, Biological Psychiatry, Sleep disorder, Socially prescribed perfectionism, Portugal, Multidimensional perfectionism, Perfectionism (psychology), medicine.disease, Sleep in non-human animals, Large sample, University students, Psychiatry and Mental health, Other-oriented perfectionism, Female, Psychology, Personality, Clinical psychology, Self-oriented perfectionism
Abstract: The main purpose of the present research was to explore gender-related associations between sleep disturbance and perfectionism dimensions in a large sample of undergraduate students. Perfectionism dimensions have been assessed using the Portuguese version of the Multidimensional Perfectionism Scale (Hewitt and Flett, 1991 , J Pers Soc Psychol 60:456; Soares et al., 2003 , Rev Port Psicossom 5:46) and sleep disturbance with two items concerning difficulties initiating sleep and difficulties maintaining sleep. A total of 1163 undergraduate students of both genders between 17 and 25 years of age completed the scale. Results from correlational and categorial analyses indicated that socially prescribed perfectionism was the only dimension associated with sleep disturbance in undergraduate students of both genders. Males with the highest levels of socially prescribed perfectionism were approximately twice more likely to report sleep disturbances than those with less socially prescribed perfectionism. Similar results were found within the female sample. Implications for future research and clinical practice are discussed.
Published: 2009

30. Perfectionism dimensions in pregnancy--a study in Portuguese women

Author: Telma Pereira, Sandra Carvalho Bos, Maria Helena Pinto de Azevedo, Mariana Marques, António Macedo, Maria João Soares, Ana Allen Gomes, Berta Maia, and José Valente
Subjects: Adult, media_common.quotation_subject, Context (language use), Anger, medicine.disease_cause, Personality Assessment, Interviews as Topic, Young Adult, Pregnancy, medicine, Humans, Big Five personality traits, Association (psychology), media_common, Portugal, Obstetrics and Gynecology, Perfectionism (psychology), Achievement, Self Concept, Psychiatry and Mental health, Affect, Mood, Mental Health, Anxiety, Female, medicine.symptom, Psychology, Psychosocial, Stress, Psychological, Clinical psychology
Abstract: Pregnancy is essentially a physiological event, but neuroendocrinal and psychosocial changes are also important components of this experience. In this context, perceived stress may be enhanced by the activation of certain personality traits, like perfectionism, which in turn may be associated with more psychological distress (PD). The aim of this study was to investigate if perfectionism could be associated with more negative emotional outcomes (PD) in the transition to motherhood and to look at which of the perfectionism dimensions these consequences are specifically linked. The sample comprises 421 pregnant women (mean = 29.8, SD = 4.48 years) who completed measures of perfectionism and mood symptoms. A two-factor model with self-oriented perfectionism (SOP) and socially prescribed perfectionism (SPP) dimensions and a three-factor model with SOP, SPP-others’ high standards and SPP-conditional acceptance (CA) factors were explored. Correlations and linear regressions were calculated between perfectionism factors and mood variables. Results showed that higher levels of SPP factors were associated with increased anxiety, depression, anger, fatigue and confusion, with decreased vigour and with more severe depressive symptoms. Our results, in contrast with those from the study of Campbell and DiPaula (2002, In: Flett G, Hewitt P (eds) Perfectionism. Theory, research, and practice. American Psychological Association, Washington, pp 181–198), did not confirm a preferential association between SPP-CA and PD, revealing that both components of SPP were associated with PD.
Published: 2008

31. Association of the gene encoding neurogranin with schizophrenia in males

Author: António Macedo, Peter Heutink, Joana Almeida Palha, José Valente, Maria Helena Pinto de Azevedo, Ann B. Goodman, Mara H. Hutz, Yurii S. Aulchenko, Carlos N. Pato, Maria Inês Rodrigues Lobato, Paulo Belmonte-de-Abreu, Dina Ruano, Clarissa Severino Gama, Maria João Soares, Human genetics, Neuroscience Campus Amsterdam 2008, and Universidade do Minho
Subjects: Male, Medicina Básica [Ciências Médicas], Polymerase Chain Reaction, Linkage Disequilibrium, 0302 clinical medicine, Gene Frequency, Neurogranin, Age of Onset, Azores, Genetics, 0303 health sciences, education.field_of_study, Nucleotides, Genetic Carrier Screening, Exons, Gene Pool, Psychiatry and Mental health, association studies, Schizophrenia, Ciências Médicas::Medicina Básica, Brazil, Polymorphism, Restriction Fragment Length, Genetic Markers, Psychosis, Genotype, retinoids, Population, glutamate, Biology, Polymorphism, Single Nucleotide, behavioral disciplines and activities, Genetic determinism, 03 medical and health sciences, mental disorders, medicine, Humans, SNP, education, Biological Psychiatry, 030304 developmental biology, Genetic association, Science & Technology, Portugal, Genetic heterogeneity, medicine.disease, thyroid hormone, Introns, Genetics, Population, Case-Control Studies, 030217 neurology & neurosurgery
Abstract: The neurogranin (NRGN) gene produces a postsynaptic brain-specific protein that regulates calmodulin-Ca(2+) availability in neurons. Acting downstream of the NMDA receptor and upstream of calcineurin and other proteins implicated in schizophrenia, NRGN is a good candidate for association studies in schizophrenia. NRGN expression is regulated during development and is modulated by thyroid hormones and retinoids, molecules essential for the proper development of the central nervous system. Given the genetic complexity of schizophrenia and the potential genetic heterogeneity in different populations, we studied a possible association of NRGN with schizophrenia in 73 Azorean proband-parent triads and in two independent case-control samples from the Portuguese-mainland (244 schizophrenic and 210 controls) and Brazil (69 schizophrenic and 85 mentally healthy individuals). Genotype distribution showed association of the rs7113041 SNP with schizophrenia in males of Portuguese origin, which was confirmed by the analysis of the proband-parent triads. This evidence, implicating NRGN in schizophrenia, introduces another player into the glutamatergic hypothesis of schizophrenia., Fundação para a Ciência e Tecnologia/FEDER (Portugal) grant POCTI/35837/MGI/2000 and POCI/SAU-ESP/58757/2004. D. Ruano is a recipient of a fellowship (SFRH/BD/8659/2002) from Fundação para a Ciência e a Tecnologia (FCT), Portugal
Published: 2008
Full Text: View/download PDF

32. Perfectionism and eating attitudes in Portuguese university students

Author: Ana Allen Gomes, Maria Helena Pinto de Azevedo, Berta Maia, Michele T. Pato, Ana Telma Pereira, António Macedo, and Maria João Soares
Subjects: Adult, Male, 050103 clinical psychology, Adolescent, media_common.quotation_subject, Self-concept, Models, Psychological, medicine.disease_cause, Feeding and Eating Disorders, 03 medical and health sciences, Interpersonal relationship, 0302 clinical medicine, Sex Factors, medicine, Personality, Humans, 0501 psychology and cognitive sciences, Psychological testing, Interpersonal Relations, Disordered eating, Students, media_common, Psychological Tests, Portugal, digestive, oral, and skin physiology, 05 social sciences, Perfectionism (psychology), Feeding Behavior, medicine.disease, Self Concept, 030227 psychiatry, Psychiatry and Mental health, Clinical Psychology, Eating disorders, Attitude, Multivariate Analysis, Eating Attitudes Test, Regression Analysis, Female, Psychology, Factor Analysis, Statistical, Clinical psychology
Abstract: Objectives: The main objective was to explore which are the dimensions of perfectionism that are linked to disordered eating behaviour (EB) in a large non-clinical sample of both genders. Method: One thousand one hundred and sixty-three undergraduate students of the University of Coimbra completed the Portuguese versions of the multidimensional perfectionism scale (MPS) and the eating attitudes test (EAT-40). Results: In both genders, the MPS total score was associated with the EAT total score and all EAT dimensions (except for socially prescribed perfectionism in females). Self-oriented perfectionism (SOP) and socially prescribed perfectionism (SPP) were associated with EAT total score, diet concerns (DC) and bulimic behaviour (BB) in females while in males the social prescribed perfectionism (SPP) was the useful predictor of EAT total score, BB and social pressure to eat (SPE). Conclusion: These results confirm that in general high levels of perfectionism are associated with abnormal EB. This was the case for both genders for SPP but for SOP for females only. The association for other oriented perfectionism (OOP) was greater for males than for females. Copyright © 2006 John Wiley & Sons, Ltd and Eating Disorders Association.
Published: 2007

33. Family-based and case-control studies reveal no association of lipocalin-type prostaglandin D2 synthase with schizophrenia

Author: Maria Inês Rodrigues Lobato, Clarissa Severino Gama, Joana Almeida Palha, Maria Helena Pinto de Azevedo, Maria João Soares, Mara H. Hutz, Paulo Belmonte-de-Abreu, Carlos N. Pato, Dina Ruano, José Valente, Peter Heutink, António Macedo, and Universidade do Minho
Subjects: Male, Psychosis, medicine.medical_specialty, Genotype, Thyroid hormones, Biology, Lipocalin, Polymorphism, Single Nucleotide, Medicina Clínica [Ciências Médicas], Cellular and Molecular Neuroscience, chemistry.chemical_compound, Retinoids, Internal medicine, PTGDS, medicine, Humans, Family, Genetic Predisposition to Disease, Allele, Genetics (clinical), Alleles, Ciências Médicas::Medicina Clínica, Science & Technology, Portugal, Prostaglandin D2, Haplotype, Prostaglandin D2 synthase, medicine.disease, Lipids, Lipocalins, Intramolecular Oxidoreductases, Psychiatry and Mental health, Endocrinology, chemistry, Haplotypes, Case-Control Studies, biology.protein, Schizophrenia, Prostaglandins, lipids (amino acids, peptides, and proteins), Female, Niacin, Brazil, Hormone
Abstract: Several observations point to the involvement of disturbed lipid biology in schizophrenia. Reduced response to niacin flushing test, which involves vasodilatation induced by prostaglandin D2 (PGD2), is among the evidences, together with decreased CSF levels of lipocalin-type prostaglandin D2 synthase (PTGDS), the enzyme responsible for the synthesis of PGD2 in the brain. Since PTGDS is also a carrier for lipophilic molecules such as retinoids and thyroid hormones, altered PTGDS levels might influence both PGD2-mediated signaling, and vitamin A and thyroid hormone availability. To test whether genetic variants of PTGDS are involved in the etiology of schizophrenia, we searched for variants in the coding and regulatory regions of the gene. We identified four previously described polymorphisms. Using two case-control samples from Portugal and Brazil, none of the polymorphisms tested was associated with the disease. In addition, no transmission distortion was observed in an independent parents-offspring sample from the Azorean Islands. Our data do not support the involvement of the PTGDS gene in the etiology of schizophrenia., FEDER and Fundação para a Ciência e a Tecnologia (Portugal). Grant Number: POCTI/SAU‐ESP/58757/2004 and POCTI/35837/MGI/2000
Published: 2007

34. Transthyretin: No association between serum levels or gene variants and schizophrenia

Author: Paulo Belmonte-de-Abreu, José Valente, Clarissa Severino Gama, Maria Inês Rodrigues Lobato, Ann B. Goodman, Maria João Saraiva, Maria Helena Pinto de Azevedo, Maria João Soares, Dina Ruano, Peter Heutink, António Macedo, Carlos N. Pato, Joana Almeida Palha, Mara H. Hutz, and Universidade do Minho
Subjects: Male, Thyroid hormones, Statistics as Topic, Social Environment, Transthyretin, Exon, 0302 clinical medicine, Reference Values, Risk Factors, Prealbumin, Genetics, Regulation of gene expression, biology, Retinol-Binding Protein, Exons, Middle Aged, Psychiatry and Mental health, Retinol-binding protein, Female, Brazil, Adult, Psychosis, medicine.medical_specialty, endocrine system, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, 03 medical and health sciences, Retinoids, Internal medicine, medicine, SNP, Humans, Genetic Predisposition to Disease, Gene, Biological Psychiatry, Genetic association, Association studies, Science & Technology, Portugal, nutritional and metabolic diseases, Genetic Variation, medicine.disease, 030227 psychiatry, Retinol-Binding Proteins, Endocrinology, Gene Expression Regulation, Case-Control Studies, biology.protein, Schizophrenia, 030217 neurology & neurosurgery
Abstract: It has been proposed that schizophrenia results from an environmental insult in genetically predisposed individuals. Environmental factors capable of modulating transcriptional activity and their carriers could link the genetic and environmental components of schizophrenia. Among these is transthyretin (TTR), a major carrier of thyroid hormones and retinol-binding protein (RBP). Retinoids and thyroid hormones regulate the expression of several genes, both during development and in the adult brain. Decreased TTR levels have been reported in the cerebrospinal fluid of patients with depression and Alzheimer's disease, and the absence of TTR influences behavior in mice. DNA variants capable of altering TTR ability to carry its ligands, either due to reduced transcription of the gene or to structural modifications of the protein, may influence development of the central nervous system and behavior. In the present study we searched for variants in the regulatory and coding regions of the TTR gene, and measured circulating levels of TTR and RBP. We found a novel single nucleotide polymorphism (SNP), ss46566417, 18 bp upstream of exon 4. Neither this SNP nor the previously described rs1800458 were found associated with schizophrenia. In addition, serum TTR and RBP levels did not differ between mentally healthy and schizophrenic individuals. In conclusion, our data does not support an involvement of the TTR gene in the pathophysiology of schizophrenia., This work was supported by Grant POCTI/35837/MGI/2000 from Fundação para a Ciência e a Tecnologia/FEDER. Dina Ruano is a recipient of a fellowship (SFRH/BD/8659/2002) from Fundação para a Ciência e a Tecnologia (FCT), Portugal.
Published: 2007

35. Human p53 tumor suppressor gene (TP53) and schizophrenia: case-control and family studies

Author: José Valente, Maria Helena Pinto de Azevedo, James L. Kennedy, Michelle T. Pato, Xingqun Ni, Joseph Trakalo, and Carlos N. Pato
Subjects: Male, Psychosis, Tumor suppressor gene, Genotype, Schizophrenia (object-oriented programming), DNA Mutational Analysis, Biology, behavioral disciplines and activities, Linkage Disequilibrium, Gene Frequency, mental disorders, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Allele frequency, Genetics, Brain Chemistry, Ontario, Polymorphism, Genetic, Portugal, General Neuroscience, Haplotype, Case-control study, Transmission disequilibrium test, medicine.disease, Haplotypes, Case-Control Studies, Schizophrenia, Female, Tumor Suppressor Protein p53
Abstract: The human p53 tumor suppressor gene (TP53) is considered as a candidate susceptibility gene for schizophrenia because of its functions in neurodevelopment. To test for an association between TP53 and schizophrenia, both the case–control study and the transmission disequilibrium test (TDT) were performed on genotype data from eight polymorphisms in TP53. Our samples included 286 Toronto schizophrenia cases and 264 controls, and 163 Portuguese nuclear families. In the Toronto case–control study significant differences of allele frequencies of the CAA Ins/Del ( p = 0.027) and the 16 bp Ins/Del ( p = 0.022) were detected. In TDT analysis we found significant differences for transmission of the CAA Ins/Del ( p = 0.017) in Portuguese schizophrenia families. Haplotype analysis also showed a significant association between TP53 and schizophrenia. These results provide further evidence that TP53 may play a role in the pathogenesis of schizophrenia.
Published: 2005

36. Support for involvement of neuregulin 1 in schizophrenia pathophysiology

Author: A. Dourado, A R Tahl, Shaun Purcell, M. T. Pato, Célia Barreto Carvalho, Nick Patterson, H M Medeiros, Andrew Kirby, G N Rockwell, Pamela Sklar, K.L. Gentile, Kimberly A. Aldinger, Carlos N. Pato, José Valente, L McGann, Christopher P. Morley, Maria Helena Pinto de Azevedo, Frank A. Middleton, António Macedo, Mark J. Daly, Tracey L. Petryshen, and Carlos Ferreira
Subjects: Male, Candidate gene, Linkage disequilibrium, Genetic Linkage, Neuregulin-1, Population, Single-nucleotide polymorphism, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, White People, Cellular and Molecular Neuroscience, Genetic linkage, Reference Values, mental disorders, medicine, Humans, Family, Genetic Predisposition to Disease, Neuregulin 1, education, Molecular Biology, Genetics, education.field_of_study, biology, Portugal, Haplotype, Chromosome Mapping, Genomics, medicine.disease, Pedigree, Psychiatry and Mental health, Haplotypes, Schizophrenia, biology.protein, Female, Chromosomes, Human, Pair 8, Microsatellite Repeats
Abstract: Schizophrenia is a common, multigenic psychiatric disorder. Linkage studies, including a recent meta-analysis of genome scans, have repeatedly implicated chromosome 8p12-p23.1 in schizophrenia susceptibility. More recently, significant association with a candidate gene on 8p12, neuregulin 1 (NRG1), has been reported in several European and Chinese samples. We investigated NRG1 for association in schizophrenia patients of Portuguese descent to determine whether this gene is a risk factor in this population. We tested NRG1 markers and haplotypes for association in 111 parent-proband trios, 321 unrelated cases, and 242 control individuals. Associations were found with a haplotype that overlaps the risk haplotype originally reported in the Icelandic population ("Hap(ICE)"), and two haplotypes located in the 3' end of NRG1 (all P0.05). However, association was not detected with Hap(ICE) itself. Comparison of NRG1 transcript expression in peripheral leukocytes from schizophrenia patients and unaffected siblings identified 3.8-fold higher levels of the SMDF variant in patients (P=0.039). Significant positive correlations (P0.001) were found between SMDF and HRG-beta 2 expression and between HRG-gamma and ndf43 expression, suggesting common transcriptional regulation of NRG1 variants. In summary, our results suggest that haplotypes across NRG1 and multiple NRG1 variants are involved in schizophrenia.
Published: 2004

37. Using consensus OPCRIT diagnoses. An efficient procedure for best-estimate lifetime diagnoses

Author: José Valente, Isabel Coelho, Carlos N. Pato, Maria Helena Pinto de Azevedo, Maria João Soares, António Macedo, Michele T. Pato, and A. Dourado
Subjects: Observer Variation, Psychiatric Status Rating Scales, medicine.medical_specialty, Bipolar Disorder, Research Diagnostic Criteria, Sensitivity and Specificity, Checklist, 030227 psychiatry, 03 medical and health sciences, Psychiatry and Mental health, Inter-rater reliability, 0302 clinical medicine, Cohen's kappa, medicine, Schizophrenia, Diagnostic assessment, Humans, Diagnostic Interview for Genetic Studies, 030212 general & internal medicine, Medical diagnosis, Psychiatry, Psychology, Kappa, Algorithms, Clinical psychology
Abstract: BackgroundThe Operational Criteria Checklist (OPCRIT) generates diagnoses according to 12 operational diagnostic systems (e. g. DSM–III, DSM–III–R, Research Diagnostic Criteria, ICD–10)AimsTo examine the agreement between diagnoses generated by the OPCRIT, as completed by the interviewer, with a best-estimate lifetime procedure using the OPCRIT.MethodSubjects came from large mufti-generational bipolar or schizophrenia pedigrees (n=100), and from a sample of unrelated subjects with schizophrenia (n=40). We analysed the diagnostic agreement between OPCRIT diagnoses generated by the interviewer and our best-estimate OPCRIT diagnoses, according to DSM–III–R and ICD–10, using Cohen kappa statistics.ResultsExcellent agreement was found between interviewer OPCRIT diagnoses and OPCRIT diagnoses made by the best-estimate lifetime consensus procedure for DSM–III–R (κ=0.83) and ICD-10 (κ=0.81)ConclusionsResults suggest that this procedure for diagnostic assessment is an efficient alternative to classic best-estimate diagnosis procedures.
Published: 2000

38. Snoring in Portuguese Primary School Children

Author: David Gozal, Isabel Coelho, Celsa Pissarra, Vanda Clemente, Ana Maria Ferreira, Helena César, Carlos Fernandes da Silva, Ana Allen Gomes, and Maria Helena Pinto de Azevedo
Subjects: Male, Parents, Night Terrors, medicine.medical_specialty, Pediatrics, Child Behavior Disorders, Perturbações do Comportamento na Criança, Irritability, Bedtime, Enuresis, Surveys and Questionnaires, Intervention (counseling), Epidemiology, Prevalence, medicine, Humans, Loud snoring, Child, Students, Ressonar, Portugal, business.industry, Teaching, Snoring, Achievement, Rutter, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, Estudantes, Sleep, business, psychological phenomena and processes, Clinical psychology
Abstract: Objective. To determine the prevalence of snoring and its potential associations with sleep problems, such as daytime symptoms, medical conditions, school performance, and behavioral disturbances in Portuguese children attending primary school. Methods. A previously validated questionnaire was sent to the parents of 1381 children attending primary schools in a parish of Coimbra, Portugal. To assess behavioral disturbances, the Portuguese version of Rutter's Children's Behavior Questionnaire for completion by teachers was used. Results. Of the 988 questionnaires returned (71.5%), complete information concerning snoring was obtained for 976 children (496 girls and 480 boys; mean age: 8.1 ± 1.5 years). Loud snoring during sleep was reported as frequent or constantly present (LSn) in 84 children (8.6%), as occasionally present in 299 children (30.6%), and as never present (NSn) by 593 children (60.8%). The LSn and NSn groups did not differ with respect to age, gender, sleep duration, time to fall asleep, frequency of night wakings, bedwetting, daytime tiredness, and school achievement. However, LSn was significantly associated with increased bedtime problems (fears and struggles), increased need for comforting activities to fall asleep, behaviors suggestive of parasomnias (sleep talking, teeth grinding, and night terrors), increased daytime sleepiness and irritability, and behavioral disturbances. Children in the LSn group were also more likely to report recurrent medical problems particularly those involving infections of the respiratory tract. Conclusions. Snoring is a common symptom in Portuguese children that is associated with behavioral daytime and sleep time disturbances. Children with loud snoring may benefit from early evaluation and intervention.
Published: 2000
Full Text: View/download PDF

Catalog

Books, media, physical & digital resources

See catalog results

Searchworks

Select search scope, currently: Articles Catalog books, media & more in Jio Institute collections Articles journal articles & other e-resources

Search

Search Constraints

Refine your results

Search Limiters

Topic

Publication Year Range

Language

Journal

Database

Publisher

38 results on '"Maria Helena Pinto de Azevedo"'

Search Results

Catalog

Select search scope, currently: Articles

Catalog

books, media & more in Jio Institute collections

Articles

journal articles & other e-resources