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1.
J Affect Disord ; 315: 48-56, 2022 10 15.
Artigo em Inglês | MEDLINE | ID: mdl-35907479

RESUMO

BACKGROUND: Distortions in time processing may be regarded as an endophenotypic marker of neuropsychiatric diseases; however, investigations addressing Bipolar Disorder (BD) are still scarce. METHODS: The present study compared timing abilities in 30 BD patients and 30 healthy controls (HC), and explored the relationship between time processing and affective-cognitive symptoms in BD, with the aim to determine whether timing difficulties are primary in bipolar patients or due to comorbid cognitive impairment. Four tasks measuring external timing were administered: a temporal and spatial orienting of attention task and a temporal and colour discrimination task, for assessing the ability to evaluate temporal properties of external events; two other tasks assessed the speed of the internal clock (i.e. temporal bisection and temporal production tasks). Attentional, executive and working memory (WM) demands were equated for controlling additional cognitive processes. RESULTS: BD patients did not show differences in external timing accuracy compared to HC; conversely, we found increased variability of the internal clock in BD and this performance was related to Major Depressive Episodes recurrence and WM functioning. Hence, variability of the internal clock is influenced by the progressive course of BD and impacted by variations in WM. LIMITATIONS: Future studies including BD patients stratified by mood episode will further specify timing alterations conditional to the current affective state. CONCLUSIONS: Our results shed new light on the clinical phenotypes of BD, suggesting that timing might be used as a model system of the ongoing pathophysiological process.


Assuntos
Transtorno Bipolar , Transtornos Cognitivos , Transtorno Depressivo Maior , Transtorno Bipolar/psicologia , Cognição , Transtornos Cognitivos/psicologia , Humanos , Memória de Curto Prazo , Testes Neuropsicológicos
2.
Riv Psichiatr ; 57(4): 159-164, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35856315

RESUMO

The attention deficit hyperactivity disorder (ADHD) in women has recently received considerable attention, as research has shown an underestimation of the disorder in females, due to a difference in presentation compared to males: females have a higher risk of having ADHD, without those "disruptive" symptoms that determine the request for help. The purpose of the present narrative review is to identify the neglected clinical problems in the diagnostic and therapeutic intervention of women with ADHD and to analyze the associated comorbid problems. The conducted PubMed search and the relevant literature review on the topic show that the impairment of ADHD in women is underestimated due to the different ways the phenomenon manifests compared to traditional male's symptoms. This underestimation consequently leads to an inadequate treatment and has negative repercussions on the social context in which women are involved in.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/tratamento farmacológico , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Comorbidade , Feminino , Humanos , Masculino , Fatores Sexuais
4.
Hum Brain Mapp ; 43(1): 352-372, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34498337

RESUMO

Schizophrenia is associated with widespread alterations in subcortical brain structure. While analytic methods have enabled more detailed morphometric characterization, findings are often equivocal. In this meta-analysis, we employed the harmonized ENIGMA shape analysis protocols to collaboratively investigate subcortical brain structure shape differences between individuals with schizophrenia and healthy control participants. The study analyzed data from 2,833 individuals with schizophrenia and 3,929 healthy control participants contributed by 21 worldwide research groups participating in the ENIGMA Schizophrenia Working Group. Harmonized shape analysis protocols were applied to each site's data independently for bilateral hippocampus, amygdala, caudate, accumbens, putamen, pallidum, and thalamus obtained from T1-weighted structural MRI scans. Mass univariate meta-analyses revealed more-concave-than-convex shape differences in the hippocampus, amygdala, accumbens, and thalamus in individuals with schizophrenia compared with control participants, more-convex-than-concave shape differences in the putamen and pallidum, and both concave and convex shape differences in the caudate. Patterns of exaggerated asymmetry were observed across the hippocampus, amygdala, and thalamus in individuals with schizophrenia compared to control participants, while diminished asymmetry encompassed ventral striatum and ventral and dorsal thalamus. Our analyses also revealed that higher chlorpromazine dose equivalents and increased positive symptom levels were associated with patterns of contiguous convex shape differences across multiple subcortical structures. Findings from our shape meta-analysis suggest that common neurobiological mechanisms may contribute to gray matter reduction across multiple subcortical regions, thus enhancing our understanding of the nature of network disorganization in schizophrenia.


Assuntos
Tonsila do Cerebelo/patologia , Corpo Estriado/patologia , Hipocampo/patologia , Neuroimagem , Esquizofrenia/patologia , Tálamo/patologia , Tonsila do Cerebelo/diagnóstico por imagem , Corpo Estriado/diagnóstico por imagem , Hipocampo/diagnóstico por imagem , Humanos , Estudos Multicêntricos como Assunto , Esquizofrenia/diagnóstico por imagem , Tálamo/diagnóstico por imagem
5.
J Clin Med ; 12(1)2022 Dec 28.
Artigo em Inglês | MEDLINE | ID: mdl-36615019

RESUMO

Although etiological and maintenance cognitive factors have proved effective in predicting the disease course in youths with OCD, their contribution to symptom severity and specific OCD dimensions has been scarcely examined. In a cohort of children and adolescents with OCD (N = 41; mean age = 14; age range = 10-18 yrs.), we investigated whether certain dysfunctional beliefs and cognitive traits could predict symptom severity, and whether they were differentially associated with specific symptom dimensions. We found that self-oriented and socially prescribed perfectionism and intolerance to uncertainty were associated with higher obsession severity, which was not uniquely related to any neuropsychological variable. Greater severity of obsessions and compulsions about harm due to aggression/injury/violence/natural disasters was predicted by excessive concerns with the expectations of other people. Severity in this dimension was additionally predicted by decreasing accuracy in performing a problem-solving, non-verbal reasoning task, which was also a significant predictor of severity of obsessions about symmetry and compulsions to count or order/arrange. Apart from corroborating both the belief-based and neuropsychological models of OCD, our findings substantiate for the first time the specificity of certain dysfunctional beliefs and cognitive traits in two definite symptom dimensions in youth. This bears important clinical implications for developing treatment strategies to deal with unique dysfunctional core beliefs, and possibly for preventing illness chronicity.

7.
Clin Neuropsychiatry ; 18(1): 28-40, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34909018

RESUMO

Although personality is a widely discussed topic within the academic field, little is still known about its role in affecting psychopathology, specifically schizophrenia, which can involve psychosis. While the existing literature connects these fields, it is necessary to deepen the knowledge about the relationship between these and the role that personality disorders and traits have on such psychopathology. With the implementation of the AMPD in the DSM-5 and the related assessment of impairment in personality functioning and pathological personality traits, moving from traditional models as the FFM Model of Personality, the present systematic review aims to clarify and summarize the state of the art of the studies regarding this topic. According to the Prisma Statement, literature collection was built based on two databases: PubMed and PsycINFO, and the search focused on recent studies in a period from 2011 to 2020 to check for studies consistent with recent updates. The search process started from 866 articles and ended with 10 selected studies from the two databases, covering years from 2011 to 2020. Studies differ in sample size, measures, aim, and outcome making the present literature review diversified in its content. This review gathers evidence and sheds light on the complexity of these topics and their interconnection. Future studies may be required to clarify the clinical implications of these aspects, aiming at incrementing treatments with a more specific focus on assessment that can provide enhanced preventions.

8.
Front Psychiatry ; 12: 697058, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34211413

RESUMO

Aims: The aim was to analyse the psychiatric consultations in nine Italian hospital emergency departments, by comparing the lockdown and post-lockdown periods of 2020 with the equivalent periods of 2019. Methods: Characteristics of psychiatric consultations, patients, and drug prescriptions were analyzed. Joinpoint models were used to identify changes in the weekly trend of consultations. Results: A 37.5% decrease in the number of consultations was seen during the lockdown period and 17.9% after the lockdown. The number of individual patients seen decreased by 34.9% during the lockdown and 11.2% after the lockdown. A significant change in the number of consultations from week 11 to week 18 occurred, followed by a gradual increase. There was a higher percentage of patients with previous psychiatric hospitalizations during the lockdown period (61.1 vs. 56.3%) and a lower percentage after the lockdown (59.7 vs. 64.7%). During the lockdown there was a large increase in psychiatric consultations for substance use disorders, whereas more consultations for manic episodes occurred after the lockdown. A 3.4% decrease was observed in consultations for suicidal ideation and planning during the lockdown, followed by an upward rebound after the lockdown, along with an increase in consultations for suicide attempts. During lockdown antipsychotic and benzodiazepine prescriptions increased by 5.2 and 4.1%, respectively. After the lockdown, the number of compulsory hospitalizations was higher than in 2019. Conclusions: We observed a decrease of psychiatric consultations during and after the lockdown. There was an increase in consultations for manic episodes and suicidality after the lockdown. The focus of psychiatric services must remain high particularly in this latter period.

9.
Clinicoecon Outcomes Res ; 13: 629-635, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34262308

RESUMO

PURPOSE: To analyse the healthcare resource consumption and related costs for the Italian National Health System of patients estimated to be affected by treatment-resistant depression (TRD) in Italy. PATIENTS AND METHODS: This was an observational retrospective study based on administrative databases, including those related to residential/semiresidential structures, of Veneto Region and the Local Health Unit of Bergamo in Italy (for a total of around 6 million health-assisted subjects). Between July 2011 and December 2017, all adult patients with a third antidepressant (AD) after ≥2 AD (each one with at least ≥4 weeks duration, ≥1 prescription at maximum dosage reported in datasheets, a grace period ≤30 days when switching AD and treatment maintained ≥9 months) were included. Overall and psychiatry-related healthcare resources consumption and related costs were estimated on a 12-months based analysis. Data were re-proportioned to the Italian population. RESULTS: We have previously estimated a total of 101,455 patients with TRD in Italy (130,049 considering the mean maximum dosage of AD). Of them, 44.2% had at least a psychiatric hospitalization/visit or accessed a residential/semiresidential structure, and 31% added another AD or a mood stabilizer/antipsychotic drug. Patients with at least one psychiatry-related hospitalization increased over the number of antidepressant lines from 12.0% during first line up to 24.5% during fourth line. Direct healthcare costs increased from €4,405 for first line to €9,251 from fifth line onwards. Psychiatry-related costs went from €1,817 (first line) to €4,606 (fifth line onwards) and were mainly driven by residential/semiresidential structures and hospitalizations. CONCLUSION: An upward trend with number of AD lines was observed for all healthcare resource utilization and consequently for all direct costs, thus indicating an increasing burden for patients as they move forward AD lines.

10.
J Affect Disord ; 293: 476-483, 2021 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-34256209

RESUMO

BACKGROUND: Studies showed that affective temperaments and attachment are associated with depressive symptoms, and that they bi-directionally influence each-other. The aim of this study is to explore mechanisms underlying the relationship between the affective temperaments (i.e., depressive, cyclothymic, irritable, hyperthymic and anxious), interview-based attachment, and depressive symptoms. METHODS: A sample of 61 adolescents and young adults outpatients were asked to complete the Temperament Evaluation of Memphis, Pisa, and San Diego Autoquestionnaire (TEMPS-A) and the Hamilton Rating Scale for Depression (HAM-D). Attachment was assessed through the Adult Attachment Interview (AAI) and employing a dimensional approach to obtain continuous measures. Mediation models were performed with the affective temperaments as predictor, depressive symptoms as the criterion variable, and attachment dimensions as mediators. RESULTS: Findings showed significant direct effects between all the affective temperaments and depressive symptoms. Only the cyclothymic (ß = 0.22; SE = 0.1; 95% IC = 0.05, 0.42) and irritable (ß = 0.21; SE = 0.09; 95% IC = 0.04, 0.4) temperaments showed an indirect effect on depressive symptoms through secure-insecure attachment. Dismissing attachment did not predict either the affective temperaments nor depressive symptoms. Preoccupied attachment significantly predicts depressive symptoms and, when controlling for it, the hyperthymic temperament no longer directly associates with depressive symptoms. LIMITATIONS: The cross-sectional study design limit conclusion about causation and directionality. CONCLUSIONS: Secure attachment could be a protective factor for depressive symptoms for individuals with a cyclothymic or irritable temperament. Differently, the hyperthymic temperament loses its protective role toward depressive symptoms when accounting for preoccupied attachment.


Assuntos
Depressão , Temperamento , Adolescente , Estudos Transversais , Humanos , Inventário de Personalidade , Inquéritos e Questionários , Adulto Jovem
11.
Front Psychiatry ; 12: 646925, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33897498

RESUMO

Background: Among Family-Based Services for the treatment of severe mental illnesses, multi-family models gained particular attention, given the potential usefulness of mutual feed-back, motivation and encouragement among families. Methods: The Psychodynamic Multi-Family Group Model has been proposed since 1997 in some Community Mental Health Services in Rome. Since 2011 multifamily groups are held weekly in all the six Districts of the Department of Mental Health that serves a population of more than one million people, and data have been collected since 2015 in three Districts. A total of 794 individuals attended the meetings in the period 2015-2019. Results: Eighty-six percent of those who started, attended more than one meeting. The mean of occurrences of participation among patients was 18.6, among mothers 25.6 and among fathers 21.6. The 794 participants belonged to 439 family units, among which 180 comprised only the patient, 76 only parent(s) or other close person(s), and 183 comprised parent(s) or close person(s) with the patient. Patients participating alone were older than those of families who participated as a whole. Families including the patient showed the longest duration of attendance and the highest prevalence of a diagnosis of schizophrenia in the index patient. Families who had been attending the multifamily groups since a long time maintained a high rate of attendance. Conclusions: Multifamily groups represent a setting where patients can meet with other people and professionals in a free still structured way, and with not strictly therapeutic objectives. The high number of patients who attended alone suggests that such participation corresponds to a self-perceived need of open and free setting facilitating sharing of problems and solutions. The good tenure of the interventions, the high participation, and the feasibility in the long-term suggest that multifamily groups can be implemented in the mental health services of a large city, are sustainable over many years, and can represent a valuable resource for many patients and families.

12.
Artigo em Inglês | MEDLINE | ID: mdl-33924111

RESUMO

The early and correct assessment of psychomotor agitation (PMA) is essential to ensure prompt intervention by healthcare professionals to improve the patient's condition, protect healthcare staff, and facilitate future management. Proper training for recognizing and managing agitation in all care settings is desirable to improve patient outcomes. The best approach is one that is ethical, non-invasive, and respectful of the patient's dignity. When deemed necessary, pharmacological interventions must be administered rapidly and avoid producing an excessive state of sedation, except in cases of severe and imminent danger to the patient or others. The purpose of this brief review is to raise awareness about best practices for the management of PMA in emergency care situations and consider the role of new pharmacological interventions in patients with agitation associated with bipolar disorder or schizophrenia.


Assuntos
Antipsicóticos , Transtorno Bipolar , Loxapina , Esquizofrenia , Antipsicóticos/uso terapêutico , Transtorno Bipolar/tratamento farmacológico , Humanos , Loxapina/uso terapêutico , Agitação Psicomotora/tratamento farmacológico , Agitação Psicomotora/etiologia , Esquizofrenia/complicações , Esquizofrenia/tratamento farmacológico
13.
Artigo em Inglês | MEDLINE | ID: mdl-33737215

RESUMO

AIMS: The present investigation aimed at evaluating differences in psychiatric hospitalizations in Italy during and after the lockdown due to the novel coronavirus disease 2019 (COVID-19), compared to the same periods in 2018 and 2019. METHODS: We obtained and analyzed anonymized data on psychiatric admissions (n = 4550) from 12 general hospital psychiatric wards (GHPWs) in different Italian regions (catchment area = 3.71 millions of inhabitants). Using a mixed-effects Poisson regression model, we compared admission characteristics across three periods: (a) March 1-June 30, 2018 and 2019; (b) March 1-April 30, 2020 (i.e., lockdown); and (c) May 1-June 30, 2020 (i.e., post-lockdown). RESULTS: During the COVID-19 lockdown, there was a 41% reduction (IRR = 0.59; p < 0.001, CI: 0.45-0.79) in psychiatric admissions in the enrolled GHPWs with respect to the 2018 and 2019 control period. Conversely, admission rates in the post-lockdown period were similar to those observed in the control period. Notably, a consistent and significant reduction in psychiatric hospitalizations of older patients (aged >65 years) was observed in the lockdown (40%; IRR = 0.60; 95% CI: 0.44-0.82) and post-lockdown (28%; IRR = 0.72; 95% CI: 0.54-0.96) periods. Long-stay admissions (>14 days) increased (63%; IRR = 1.63; 95% CI: 1.32-2.02) during the lockdown and decreased by 39% thereafter (IRR = 0.61; 95% CI: 0.49-0.75). A significant 35% increase in patients reporting suicidal ideation was observed in the post-lockdown period, compared to the rate observed in the 2018 and 2019 control period (IRR = 1.35; 95% CI: 1.01-1.79). CONCLUSION: The COVID-19 lockdown was associated with changes in the number of psychiatric admissions, particularly for older patients and long-stay hospitalizations. Increased admission of patients reporting suicidal ideation in the post-lockdown period merits special attention. Further studies are required to gain insight into the observed phenomena.


Assuntos
COVID-19/psicologia , Hospitalização/estatística & dados numéricos , Unidade Hospitalar de Psiquiatria/estatística & dados numéricos , Ideação Suicida , Adulto , Fatores Etários , Idoso , COVID-19/complicações , COVID-19/epidemiologia , Controle de Doenças Transmissíveis , Feminino , Humanos , Itália/epidemiologia , Tempo de Internação/estatística & dados numéricos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
15.
Clin Neuropsychiatry ; 18(6): 334-338, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-35096080

RESUMO

OBJECTIVE: To investigate the association between prodromal symptoms of schizophrenia, autonomic activity, and personality functioning. METHOD: 10 adolescents underwent semi-structured interviews assessing prodromal symptoms of schizophrenia and personality functioning. Cardiac activity was recorded at baseline, during the clinical interviews, and at recovery to assess concurrent changes in autonomic functioning. RESULTS: During the assessment of prodromal symptoms of schizophrenia, participants increased sympathetic activation compared to the recovery condition, and reduced vagal activation compared to the assessment of interpersonal functioning. CONCLUSIONS: The findings highlight the importance of integrating the autonomic assessment in clinical psychiatric and psychological practice.

16.
J Affect Disord ; 273: 468-475, 2020 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-32560942

RESUMO

BACKGROUND: Many researchers who evaluated psychological distress during the transition to parenthood agree in identifying pregnancy as the most sensitive period for the onset of psychiatric symptomatology for both parents. Furthermore, research highlights a correlation between symptoms experienced by fathers in relation to those experienced by mothers. OBJECTIVE: The aim of this study was to investigate whether dyadic functioning influences the level of psychiatric symptomatology in couples expecting their first child. Participants were 137 couples expecting their first child; they were recruited at the San Filippo Neri and the Santo Spirito hospitals in Rome (ASLROMA1). We used an Actor-Partner Interdependence Model (APIM) to test the interdependence of both partners and the effect of dyadic relationships on psychiatric symptoms in the couple. RESULTS: The overall test of distinguishability yielded a chi square value of 122.167 (23 df; p < .001). The actor-partner interdependence model showed significant paths between couple coping and psychiatric symptomatology. Specifically, we found that the quality of couple coping perceived by the mother negatively predicted maternal psychiatric symptomatology, and the quality of couple coping perceived by the father negatively predicted paternal psychiatric symptomatology. Furthermore, the quality of couple coping perceived by the father negatively predicted maternal psychiatric symptomatology. CONCLUSIONS: The results of this study confirm that dyadic adjustment is an important element for the development of effective interpersonal relationships. These data highlight the importance of promoting psycho-educational and clinical courses and programs for the development of social support with future parents.


Assuntos
Adaptação Psicológica , Parceiros Sexuais , Criança , Pai , Feminino , Humanos , Relações Interpessoais , Masculino , Mães , Gravidez
17.
Neurosci Lett ; 720: 134754, 2020 02 16.
Artigo em Inglês | MEDLINE | ID: mdl-31945448

RESUMO

BACKGROUND: Recent evidence suggests that psychiatric symptoms share a common genetic liability across diagnostic categories. The present study investigated the effects of variants within previously identified relevant genes on specific symptom clusters, independently from the diagnosis. METHODS: 1550 subjects affected by Schizophrenia (SCZ), Major Depressive Disorder or Bipolar Disorder were included. Symptoms were assessed using the Positive and Negative Syndrome Scale (PANSS) and the Hamilton Depression Rating Scale (HDRS). Principal component analysis and a further clinical refinement were used to define symptom clusters. Clusters scores were tested for association with 46 genetic variants within nine genes previously linked to one or more major psychiatric disorders by large genome wide association studies (ANK3, CACNA1C, CACNB2, FKBP5, FZD3, GRM7, ITIH3, SYNE1, TCF4). Exploratory analyses were performed in each disorder separately to further elucidate the SNPs effects. RESULTS: five PANSS clusters (Negative; Impulsiveness; Cognitive; Psychotic; Depressive) and four HDRS clusters (Core Depressive; Somatic; Psychotic-like; Insomnia) were identified. CACNA1C rs11615998 was associated with HDRS Psychotic cluster in the whole sample. In the SCZ sample, CACNA1C rs11062296 was associated with PANSS Impulsiveness cluster and CACNA1C rs2238062 was associated with PANSS negative cluster. DISCUSSION: CACNA1C rs11615998 was associated with psychotic symptoms (C-allele carriers have decreased psychotic-risk) independently from the diagnosis, in line with the evidence of a cross disorder effect of many risk variants. This gene was previously associated with SCZ and cross-disorder liability to psychiatric disorders. Our findings confirmed that deep phenotyping is pivotal to clarify the role of genetic variants on symptoms patterns.


Assuntos
Variação Genética , Transtornos Mentais/diagnóstico , Transtornos Mentais/genética , Adulto , Transtorno Bipolar/diagnóstico , Transtorno Bipolar/genética , Canais de Cálcio Tipo L/genética , Transtorno Depressivo Maior/diagnóstico , Transtorno Depressivo Maior/genética , Feminino , Estudo de Associação Genômica Ampla , Humanos , Masculino , Polimorfismo de Nucleotídeo Único , Escalas de Graduação Psiquiátrica , Esquizofrenia/diagnóstico , Esquizofrenia/genética , Adulto Jovem
19.
Mol Biol Rep ; 47(1): 191-200, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31595439

RESUMO

Serotoninergic system is one of the most important neurotransmission systems investigated in the field of psychiatry. Extensive evidence reveals how alterations of this system, and especially of the SLC6A4 gene, may be associated with psychiatric disorders. In this study we aimed to evaluate the pleiotropic nature of SLC6A4 alterations and their association with the overall risk of brain diseases rather than disorder-specific. SLC6A4 variants, namely 5HTTLPR, STin2, rs2066713, rs25531, rs4251417, rs6354 and rs7224199 were investigated in 4 independent cohorts of subjects with specific psychiatric disorders, including Alcohol dependence disorder (ALC), Alzheimer disease (ALZ), Schizophrenia (SCZ) and Bipolar disorder (BPD). Other variables (biochemical parameters and Psychiatric scales scores) were also tested for association. SLC6A4 polymorphisms are not associated with the risk of developing major psychiatric disorders (SCZ and BPD); however some signals were detected in ALC (HTTLPR pd = 9.25 × 10-03, pr = 7.24 × 10-03; rs2066713 pd = 6.35 × 10-08; rs25531 pd = 2.95 × 10-02; rs4251417 pd = 2.46 × 10-03), and ALZ (rs6354 pr = 1.22 × 10-02; rs7224199 pd = 1.00 × 10-08, pr = 2.65 × 10-02) cohorts. Some associations were also observed on exploratory analyses. Our findings did not reveal any major influence on SCZ and BPD development; On the other hand, some alteration of the SLC6A4 sequence were associated with an increased risk of ALC and ALZ disorders, suggesting common pathways. The results of this study should be carefully interpreted since it suffers of some inherent limitations (e.g. cohort size, slight ethnic heterogeneity). Further analyses may provide better detail on the molecular processes behind SLC6A4 alterations.


Assuntos
Alcoolismo/genética , Doença de Alzheimer/genética , Transtornos Mentais/genética , Polimorfismo Genético , Proteínas da Membrana Plasmática de Transporte de Serotonina/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Alcoolismo/complicações , Alcoolismo/epidemiologia , Doença de Alzheimer/complicações , Doença de Alzheimer/epidemiologia , Estudos de Casos e Controles , Estudos de Coortes , Comorbidade , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Grécia/epidemiologia , Humanos , Itália/epidemiologia , Desequilíbrio de Ligação , Transtornos Mentais/epidemiologia , Pessoa de Meia-Idade , Adulto Jovem
20.
Artigo em Inglês | MEDLINE | ID: mdl-30149091

RESUMO

Shared genetic vulnerability between schizophrenia (SCZ) and bipolar disorder (BP) was demonstrated, but the genetic underpinnings of specific symptom domains are unclear. This study investigated which genes and gene sets may modulate specific psychopathological domains and if genome-wide significant loci previously associated with SCZ or BP may play a role. Genome-wide data were available in patients with SCZ (n = 226) or BP (n = 228). Phenotypes under investigation were depressive and positive symptoms severity, suicidal ideation, onset age and substance use disorder comorbidity. Genome-wide analyses were performed at gene and gene set level, while 148 genome-wide significant loci previously associated with SCZ and/or BP were investigated. Each sample was analyzed separately then a meta-analysis was performed. SH3GL2 and CLVS1 genes were associated with suicidal ideation in SCZ (p = 5.62e-08 and 0.01, respectively), the former also in the meta-analysis (p = .01). SHC4 gene was associated with depressive symptoms severity in BP (p = .003). A gene set involved in cellular differentiation (GO:0048661) was associated with substance disorder comorbidity in the meta-analysis (p = .03). Individual loci previously associated with SCZ or BP did not modulate the phenotypes of interest. This study provided confirmatory and new findings. SH3GL2 (endophilin A1) showed a role in suicidal ideation that may be due to its relevance to the glutamate system. SHC4 regulates BDNF-induced MAPK activation and was previously associated with depression. CLVS1 is involved in lysosome maturation and was for the first time associated with a psychiatric trait. GO:0048661 may mediate the risk of substance disorder through an effect on neurodevelopment/neuroplasticity.


Assuntos
Transtorno Bipolar/genética , Transtorno Bipolar/psicologia , Predisposição Genética para Doença , Esquizofrenia/genética , Psicologia do Esquizofrênico , Adulto , Estudos de Coortes , Feminino , Loci Gênicos , Estudo de Associação Genômica Ampla , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único
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