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1.
Nat Genet ; 51(5): 793-803, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-31043756

RESUMO

Bipolar disorder is a highly heritable psychiatric disorder. We performed a genome-wide association study (GWAS) including 20,352 cases and 31,358 controls of European descent, with follow-up analysis of 822 variants with P < 1 × 10-4 in an additional 9,412 cases and 137,760 controls. Eight of the 19 variants that were genome-wide significant (P < 5 × 10-8) in the discovery GWAS were not genome-wide significant in the combined analysis, consistent with small effect sizes and limited power but also with genetic heterogeneity. In the combined analysis, 30 loci were genome-wide significant, including 20 newly identified loci. The significant loci contain genes encoding ion channels, neurotransmitter transporters and synaptic components. Pathway analysis revealed nine significantly enriched gene sets, including regulation of insulin secretion and endocannabinoid signaling. Bipolar I disorder is strongly genetically correlated with schizophrenia, driven by psychosis, whereas bipolar II disorder is more strongly correlated with major depressive disorder. These findings address key clinical questions and provide potential biological mechanisms for bipolar disorder.


Assuntos
Transtorno Bipolar/genética , Loci Gênicos , Transtorno Bipolar/classificação , Estudos de Casos e Controles , Transtorno Depressivo Maior/genética , Feminino , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Humanos , Masculino , Polimorfismo de Nucleotídeo Único , Transtornos Psicóticos/genética , Esquizofrenia/genética , Biologia de Sistemas
3.
Compr Psychiatry ; 87: 95-99, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30300818

RESUMO

The aim of the present study was to examine the differences in sociodemographic and clinical characteristics of 104 women diagnosed with compulsive buying behaviour (CBB = 55) or gambling disorder (GD = 49) treated at three public hospitals unit specialized in behavioural addictions from January 2004 to December 2015. Significant between-group differences in sociodemographic variables were observed for cohabitation status (living with a partner or not) and educational level, with a higher percentage of women in the GD group cohabiting (х2 (1), p = .029). By contrast, the CBB group had a significantly higher educational level (х2 (1) = 7.4, p = .007). There were no significant differences between the groups in age of onset, age at treatment initiation, age at the onset of behavioural problems, or in the years elapsed until presenting addiction problems. However, there were significant between-group differences in the amount of money spent weekly (F (1.100) = 4.9, p = .028), with women in the CBB group spending on average €289.4/week (SD, 412.4) versus €151/week (SD, 141.23) in the GD group. The CBB group had significantly more depressive disorders compared to the GD group (х2(1) = 5.4, p = .020). In contrast, the GD group presented significantly more tobacco use than the CBB group (х2(1) = 1.19, p = .000). This study suggests that women with CBB or GD share more characteristics than differences and the treatment approaches must take into account gender related factors.

4.
Actas Esp Psiquiatr ; 46(4): 125-32, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30079926

RESUMO

INTRODUCTION: Personality Disorders (PD) are highly prevalent among Chronic Fatigue Syndrome (CFS) patients, but studies based on the DSM-5 are still scarce. Validated instruments have not yet been specifically used in CFS patients. Therefore, our aim was to analyze the differences in personality facets and domains profiles among CFS patients with and without a PD using the Personality Inventory for DSM-5 (PID-5). Additionally, we analyzed the ability of this instrument to predict PD in a sample of CFS patients. This instrument is validated for PDs, but not for CFS. METHODS: All of the 84 CFS patients were evaluated through a clinical interview and underwent psychopathological evaluation with the SCID I and SCID II. Dimensional personality facets and domains were evaluated with the PID-5, according to DSM-5. RESULTS: In our sample, 54 (64%) of the patients fulfilled the criteria of a PD. The most significant facets in CFS with PD in comparison to those patients without a PD were Separation Insecurity, Perseveration, Withdrawal, Depressivity, Rigid Perfectionism, Unusual Beliefs and Experiences. Negative Affectivity and Detachment were the two significant domains in CFS-PD patients. In the regression analyses, only Detachment and Rigid Perfectionism constituted a prognostic factor leading to high probability of an endorsed PD. Conclussion. According to these results, the PID-5 domains and facets could be adequate and useful to differentiate between PD and non-PD patients in clinical samples and suggest a more frequent dimensional personality profile in CFS patients.

5.
Actas esp. psiquiatr ; 46(4): 125-132, jul.-ago. 2018. tab
Artigo em Espanhol | IBECS | ID: ibc-174679

RESUMO

Introducción. Los Trastornos de Personalidad (TP) resultan altamente prevalentes entre pacientes con Síndrome de Fatiga Crónica (SFC), pero los estudios basados en el DSM-5 resultan escasos. Aún no han sido usados Instrumentos validados específicamente en pacientes SFC. Por este motivo, nuestro objetivo fue analizar las diferencias en las facetas de la personalidad y perfiles de dominios entre los pacientes con SFC con y sin un TP utilizando el Inventario de Personalidad para DSM-5 (PID-5). Además, se analizó la capacidad de este instrumento para predecir la presencia de TP en una muestra de pacientes con SFC. Método. Un total de 84 pacientes con SFC fueron evaluados mediante entrevista clínica y realizaron evaluación psicopatológica con las entrevistas SCID I y SCID II. Las facetas y dominios dimensionales de la personalidad se evaluaron con el PID-5, de acuerdo con DSM-5. Ese instrumento ha sido validado para TPs, pero no en CFS. Resultados. De la muestra, 54 (64%) de los pacientes cumplieron con los criterios de un TP. Las facetas más frecuentes en SFC con TP, en comparación con aquellos pacientes sin TP, fueron: Inseguridad de Separación, Perseveración, Aislamiento, Depresividad, Perfeccionismo Rígido, Creencias y Experiencias Inusuales. La Afectividad Negativa y el Desapego fueron los dos dominios significativos en pacientes con SFC-TP. En los análisis de regresión, sólo el Desapego y Perfeccionismo Rígido constituyen un factor pronóstico que conduce a una alta probabilidad de padecer un TP. Conclusión. De acuerdo con estos resultados, los dominios y facetas PID-5 podrían ser adecuados y útiles para diferenciar entre los pacientes con TP de los no-TP en muestras clínicas y sugieren un perfil de personalidad dimensional más frecuente en pacientes con SFC


Introduction. Personality Disorders (PD) are highly prevalent among Chronic Fatigue Syndrome (CFS) patients, but studies based on the DSM-5 are still scarce. Validated instruments have not yet been specifically used in CFS patients. Therefore, our aim was to analyze the differences in personality facets and domains profiles among CFS patients with and without a PD using the Personality Inventory for DSM-5 (PID-5). Additionally, we analyzed the ability of this instrument to predict PD in a sample of CFS patients. This instrument is validated for PDs, but not for CFS.Methods. All of the 84 CFS patients were evaluated through a clinical interview and underwent psychopathological evaluation with the SCID I and SCID II. Dimensional personality facets and domains were evaluated with the PID-5, according to DSM-5. Results. In our sample, 54 (64%) of the patients fulfilled the criteria of a PD. The most significant facets in CFS with PD in comparison to those patients without a PD were Separation Insecurity, Perseveration, Withdrawal, Depressivity, Rigid Perfectionism, Unusual Beliefs and Experiences. Negative Affectivity and Detachment were the two significant domains in CFS-PD patients. In the regression analyses, only Detachment and Rigid Perfectionism constituted a prognostic factor leading to high probability of an endorsed PD. Conclussion. According to these results, the PID-5 domains and facets could be adequate and useful to differentiate between PD and non-PD patients in clinical samples and suggest a more frequent dimensional personality profile in CFS patients


Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Síndrome de Fadiga Crônica/epidemiologia , Determinação da Personalidade , Transtornos da Personalidade/epidemiologia , Inventário de Personalidade/estatística & dados numéricos , Síndrome de Fadiga Crônica/psicologia , Manual Diagnóstico e Estatístico de Transtornos Mentais , Transtornos da Personalidade/psicologia , Estudos Transversais , Modelos Logísticos
6.
J Atten Disord ; : 1087054718780323, 2018 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-29890879

RESUMO

OBJECTIVE: The objective of this study was to investigate the extent to which neuropsychological performance parameters implicated in ADHD might mediate the relationship between emotional lability (EL) and this disorder. METHOD: Eight hundred twelve adult patients with ADHD were examined. EL was assessed using the EL subscale of Conners' Adult ADHD Rating Scales (CAARS). To assess cognitive and executive functions, a battery of neuropsychological tests was performed in 262 patients with ADHD and high EL symptomatology and 550 patients with ADHD and low EL symptomatology. RESULTS: Several differences between groups were found regarding neuropsychological performance; however, nearly all significant differences disappeared when the effect of gender, inattention, and hyperactive symptoms and psychiatric comorbidities were taken into account. CONCLUSION: Our results do not support the hypothesis that neuropsychological deficits are associated with EL in adults with ADHD.

7.
Drug Alcohol Depend ; 187: 358-362, 2018 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-29715653

RESUMO

BACKGROUND: Substance dependence is a chronic and relapsing disorder explained by genetic and environmental risk factors. The aim of our study is to replicate previous genome-wide significant (GWS) hits identified in substance dependence in general or in cocaine dependence in particular using an independent sample from Spain. METHODS: We evaluated, in a Spanish sample of 1711 subjects with substance dependence (1011 of them cocaine dependent) and 1719 control individuals, three SNPs identified as GWS in previous studies: rs1868152 and rs2952621 (located near LINC02052 and LINC01854, respectively), associated with substance dependence, and rs2629540 (in the first intron of FAM53B), associated with cocaine dependence. RESULTS: We replicated the association between rs2952621 and substance dependence under the dominant model (P = 0.020), with the risk allele (T) being the same in our sample and in those two reported previously. We then performed a meta-analysis of the two samples used in the original study that reported the association of rs2952621 with substance dependence (Collaborative Studies on Genetics of Alcoholism (COGA) and Study of Addiction: Genetics and Environment (SAGE)) together with our Spanish sample. The meta-analysis of 3747 cases and 4043 controls confirmed the association (OR = 1.26, 95% CI = 1.15-1.39). CONCLUSIONS: The rs2952621 variant, located downstream from the yet uncharacterized gene LINC01854, is associated with substance dependence in our Spanish sample. Further research is needed to understand its contribution to the susceptibility to substance dependence.


Assuntos
Transtornos Relacionados ao Uso de Cocaína/genética , Predisposição Genética para Doença , Transtornos Relacionados ao Uso de Substâncias/genética , Meio Ambiente , Feminino , Estudo de Associação Genômica Ampla , Humanos , Masculino , Polimorfismo de Nucleotídeo Único , Recidiva , Fatores de Risco , Espanha
8.
J Atten Disord ; 22(7): 679-693, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-26515892

RESUMO

OBJECTIVE: Functional imaging studies have found reduced frontal activity, mainly in dorso/ventro-lateral regions and reduced task-related de-activation of the default mode network in childhood ADHD. Adult studies are fewer and inconclusive. We aimed to investigate the potential neural bases of executive function in ADHD adults, examining brain activity during N-back task performance, and to explore the potential corrective effects of long-term methylphenidate treatment. METHOD: We recruited a large adult ADHD-combined sample and a matched control group and obtained functional magnetic resonance imaging (fMRI) images during task. ADHD participants were subdivided in a group under long-term treatment with methylphenidate (washed out for the scan) and a treatment-naive group. RESULTS: ADHD participants showed deficient de-activation of the medial prefrontal cortex during 2-back task, implying default mode network dysfunction. We found no relationship between blunted de-activation and treatment history. CONCLUSION: As de-activation failure in the medial frontal cortex is linked to lapses of attention, findings suggest a potential link to ADHD symptomatology.

9.
J Atten Disord ; 22(6): 581-590, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28760090

RESUMO

OBJECTIVE: To determine whether emotional lability (EL) in adult ADHD patients can already be identified during their childhood and the extent to which this childhood symptomatology can predict EL in adulthood. METHOD: Seven hundred eighteen adults with ADHD were examined. EL in adulthood was assessed using the Conners' Adult ADHD Rating Scales (CAARS). According to Conners' definition of EL, seven items from the Wender Utah Rating Scale (WURS) were used to determine this symptomatology in childhood. RESULTS: EL was identified in 31.1% of the participants, and 29.6% of this subgroup reported EL symptoms in childhood. Childhood EL was the strongest predictor of these symptoms in adulthood (odds ratio [OR] = 6.18). ADHD subtype, female sex, family history of ADHD, psychiatric comorbidities, and physical abuse were also related to EL development/persistence. CONCLUSION: Screening for EL symptoms in children with ADHD is important, as they are the strongest predictor of this symptomatology in adulthood.

10.
Rev. psiquiatr. salud ment ; 10(4): 185-191, oct.-dic. 2017. tab
Artigo em Espanhol | IBECS | ID: ibc-167236

RESUMO

Introducción. El trastorno por déficit de atención e hiperactividad (TDAH) tiene una prevalencia de entre el 2,5 y el 4% de la población general adulta. La Attention Deficit/Hyperactivity Disorder Rating Scale (ADHD-RS) es una escala autoinformada de 18 ítems para la evaluación de los síntomas del TDAH en adultos. El objetivo del presente estudio es realizar la validación de la versión española de la ADHD-RS. Material y método. Se incluyó una muestra de 304 adultos con TDAH y 94 controles sanos sin TDAH. El diagnóstico de TDAH se evaluó con la Entrevista Clínica Estructurada para el DSM-IV (SCID-I) y la Entrevista Diagnóstica para TDAH en Adultos de Conners para el DSM-IV (CAADID-II). Para determinar la validez interna de la estructura de 2 dimensiones de la ADHD-RS se realizó un análisis factorial exploratorio. Los coeficientes α se realizaron como medida de la consistencia interna de las dimensiones consideradas. Mediante un estudio de regresión logística se evaluó el modelo en términos de especificidad, sensibilidad, valor predictivo positivo (VPP) y valor predictivo negativo (VPN). Resultados. La media de edad de los participantes fue de 33,29 años (DE=10,50), con un 66% de hombres (sin diferencias entre los 2 grupos). El análisis factorial se realizó con un análisis de componentes principales seguido de una normalización por la rotación varimax. La medida de Kaiser-Meyer-Olkin para el test de adecuación de muestras fue de 0,868 (notable) y el test de esfericidad de Bartlett fue 2 (153)=1.835,76, p<0,0005, indicando que el análisis factorial es adecuado. Este modelo de 2 factores explica el 37,8% de la varianza. El coeficiente α de los 2 factores es 0,84 y 0,82. La estrategia original proponía un punto de corte de 24: sensibilidad (81,9%), especificidad (74,7%), VPP (50,0%), VPN (93,0%), coeficiente kappa 0,78 y área bajo la curva (AUC) 0,89. La nueva estrategia de puntuación sugerida por nuestro grupo propone diferentes puntos de corte según las diferentes presentaciones clínicas de TDAH. El punto de corte para la presentación combinada de TDAH es 24: sensibilidad (81,9%), especificidad (87,3%), VPP (78,6%), VPN (89,4%), coeficiente kappa 0,88 y AUC 0,94, mientras que el punto de corte para la presentación predominante con falta de atención sería 21: sensibilidad (70,2%), especificidad (76,1%), VPP (71,7%), VPN (74,8%), coeficiente kappa 0,88 y AUC 0,94. Conclusiones. La versión española de la ADHD-RS es una escala válida para discriminar correctamente adultos con TDAH de personas sin TDAH. La nueva propuesta de puntuación sugiere la relevancia de las presentaciones clínicas en los diferentes puntos de corte seleccionados (AU)


Introduction. Adult attention deficit hyperactivity disorder (ADHD) has a prevalence between 2.5% and 4% of the general adult population. Over the past few decades, self-report measures have been developed for the current evaluation of adult ADHD. The ADHD-RS is a 18-items scale self-report version for assessing symptoms for ADHD DSM-IV. A validation of Spanish version of the ADHD-RS was performed. Material and method. The sample consisted of 304 adult with ADHD and 94 controls. A case control study was carried out (adult ADHD vs. non ADHD). The diagnosis of ADHD was evaluated with the Structured Clinical Interview for DSM-IV (SCID-I) and the Conners Adult ADHD Diagnostic Interview for DSM-IV (CAADID-II). To determinate the internal validity of the two dimensions structure of ADHD-RS an exploratory factor analysis was performed. The α-coefficients were taken as a measure of the internal consistency of the dimensions considered. A logistic regression study was carried out to evaluate the model in terms of sensitivity, specificity, positive predictive value (PPV) and negative predictive values (NPV). Results. Average age was 33.29 (SD=10.50) and 66% of subjects were men (there were no significant differences between the two groups). Factor analysis was done with a principal component analysis followed by a normalized varimax rotation. The Kaiser-Meyer-Olkin measure of sampling adequacy tests was .868 (remarkable) and the Bartlett's test of sphericity was 2 (153)=1,835.76, P<.0005, indicating the appropriateness of the factor analysis. This two-factor model accounted for 37.81% of the explained variance. The α-coefficient of the two factors was .84 and .82. The original strategy proposed 24 point for cut-off: sensitivity (81.9%), specificity (74.7%), PPV (50.0%), NPV (93.0%), kappa coefficient .78 and area under the curve (AUC) .89. The new score strategy proposed by our group suggests different cut-off for different clinical presentations. The 24 point is the best cut-off for ADHD combined presentation: sensitivity (81.9%), specificity (87.3%), PPV (78.6%), NPV (89.4%), kappa coefficient .88 and AUC .94, and 21 point is the best cut-off for ADHD predominantly inattentive presentation: sensitivity (70.2%), specificity (76.1%), PPV (71.7%), NPV (74.8%), kappa coefficient .88 and AUC .94. Conclusions. In this study, the Spanish version of the ADHD-RS is a valid scale to discriminate between ADHD adults and controls. The new proposed score strategy suggests the relevance of clinical presentations in the different cut-offs selected (AU)


Assuntos
Humanos , Adulto , Adulto Jovem , Transtorno do Deficit de Atenção com Hiperatividade/classificação , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Escalas de Graduação Psiquiátrica/normas , Estudos de Casos e Controles , Sensibilidade e Especificidade , Manual Diagnóstico e Estatístico de Transtornos Mentais , Análise Estatística , Análise Fatorial , Psicometria/métodos
11.
Clin Neuropharmacol ; 40(6): 281-285, 2017 Nov/Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29045249

RESUMO

OBJECTIVES: Episodes of agitation are frequent in intoxicated patients who have a substance use disorder, a psychiatric disorder or both (dual diagnosis). For managing the agitation, it is necessary to act promptly in a safe environment and addressing any underlying etiology. Inhaled loxapine improves symptoms of agitation in adults with psychiatric disorders (eg, schizophrenia) within 10 minutes of administration. Recently, some reports have documented the usefulness of loxapine in dual diagnoses patients with agitation. However, the efficacy of loxapine in intoxicated patients has not been deeply addressed. METHODS: This report describes a case series of 12 patients (with addiction or dual disorder) who received inhaled loxapine for symptoms of psychomotor agitation during intoxication with different substances (eg, alcohol, cannabis, or cocaine) at 1 center in Spain. RESULTS: Data from 12 patients were reviewed, 5 patients were attended at the emergency room, 4 at the addiction and dual diagnosis unit, and 3 were treated during hospitalization for detoxification. All patients were under effects of substances. They had substance use disorder (including cannabis, cocaine, alcohol, hypnotics, and hallucinogens), and almost all (90%) presented 1 or more psychiatric disorders. One dose of inhaled loxapine was effective in 9 patients (75%), and in 3 patients, a second dose was required. Only mild dizziness was reported in 1 patient after the second dose. CONCLUSIONS: The acute agitation was effectively and quickly managed with inhaled loxapine in all intoxicated patients and enabled the appropriate clinical evaluation of the agitated state and the patient's management.


Assuntos
Antipsicóticos/administração & dosagem , Serviços Médicos de Emergência/métodos , Loxapina/administração & dosagem , Transtornos Mentais/tratamento farmacológico , Agitação Psicomotora/tratamento farmacológico , Transtornos Relacionados ao Uso de Substâncias/tratamento farmacológico , Administração por Inalação , Adulto , Intoxicação Alcoólica/complicações , Intoxicação Alcoólica/diagnóstico , Intoxicação Alcoólica/tratamento farmacológico , Feminino , Humanos , Masculino , Transtornos Mentais/complicações , Transtornos Mentais/diagnóstico , Agitação Psicomotora/complicações , Agitação Psicomotora/diagnóstico , Transtornos Relacionados ao Uso de Substâncias/complicações , Transtornos Relacionados ao Uso de Substâncias/diagnóstico
12.
Sci Rep ; 7(1): 10110, 2017 Aug 31.
Artigo em Inglês | MEDLINE | ID: mdl-28860459

RESUMO

Genetic factors involved in the susceptibility to drug addiction still remain largely unknown. MiRNAs seem to play key roles in the drug-induced plasticity of the brain that likely drives the emergence of addiction. In this work we explored the role of miRNAs in drug addiction. With this aim, we selected 62 SNPs located in the 3'UTR of target genes that are predicted to alter the binding of miRNA molecules and performed a case-control association study in a Spanish sample of 735 cases (mainly cocaine-dependent subjects with multiple drug dependencies) and 739 controls. We found an association between rs1047383 in the PLCB1 gene and drug dependence that was replicated in an independent sample (663 cases and 667 controls). Then we selected 9 miRNAs predicted to bind the rs1047383 region, but none of them showed any effect on PLCB1 expression. We also assessed two miRNAs binding a region that contains a SNP in linkage disequilibrium with rs1047383, but although one of them, hsa-miR-582, was found to downregulate PLCB1, no differences were observed between alleles. Finally, we explored the possibility that PLCB1 expression is altered by cocaine and we observed a significant upregulation of the gene in the nucleus accumbens of cocaine abusers and in human dopaminergic-like neurons after cocaine treatment. Our results, together with previous studies, suggest that PLCB1 participates in the susceptibility to drug dependence.

13.
Bipolar Disord ; 19(8): 637-650, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-28941032

RESUMO

OBJECTIVE: Research on neurocognitive impairment in adult patients with comorbid bipolar disorder (BD) and attention-deficit hyperactivity disorder (ADHD) is very scarce. This study assessed the neurocognitive profile of a comorbid group (BD+ADHD) compared with that of pure BD (pBD) group, pure ADHD (pADHD) group and healthy controls (HCs). METHODS: This was a three-site study comprising 229 subjects: 70 patients with pBD, 23 with BD+ADHD, 50 with pADHD, and 86 HCs. All patients with BD had been euthymic for at least 6 months. Neuropsychological performance was assessed using a comprehensive neurocognitive battery. RESULTS: Our results showed that all the clinical groups had poorer performance than the HCs in all the neurocognitive domains except for executive functions. No significant differences were observed between the pBD and BD+ADHD groups in any of the cognitive domains, with these two groups showing greater impairment than the pADHD group in executive functions and visual memory. CONCLUSIONS: Our results, although preliminary, suggest that the BD+ADHD group showed the same neurocognitive profile as pBD patients, most likely reflecting the same neurobiological basis. On the other hand, the pADHD group showed a more selective moderate impairment in attention.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtorno Bipolar , Transtornos Neurocognitivos , Adulto , Atenção , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Transtorno Bipolar/diagnóstico , Transtorno Bipolar/epidemiologia , Transtorno Bipolar/fisiopatologia , Comorbidade , Função Executiva , Feminino , Humanos , Masculino , Memória , Transtornos Neurocognitivos/diagnóstico , Transtornos Neurocognitivos/etiologia , Transtornos Neurocognitivos/psicologia , Testes Neuropsicológicos , Estatística como Assunto
14.
Rev Psiquiatr Salud Ment ; 10(4): 185-191, 2017 Oct - Dec.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-28844652

RESUMO

INTRODUCTION: Adult attention deficit hyperactivity disorder (ADHD) has a prevalence between 2.5% and 4% of the general adult population. Over the past few decades, self-report measures have been developed for the current evaluation of adult ADHD. The ADHD-RS is a 18-items scale self-report version for assessing symptoms for ADHD DSM-IV. A validation of Spanish version of the ADHD-RS was performed. MATERIAL AND METHOD: The sample consisted of 304 adult with ADHD and 94 controls. A case control study was carried out (adult ADHD vs. non ADHD). The diagnosis of ADHD was evaluated with the Structured Clinical Interview for DSM-IV (SCID-I) and the Conners Adult ADHD Diagnostic Interview for DSM-IV (CAADID-II). To determinate the internal validity of the two dimensions structure of ADHD-RS an exploratory factor analysis was performed. The α-coefficients were taken as a measure of the internal consistency of the dimensions considered. A logistic regression study was carried out to evaluate the model in terms of sensitivity, specificity, positive predictive value (PPV) and negative predictive values (NPV). RESULTS: Average age was 33.29 (SD=10.50) and 66% of subjects were men (there were no significant differences between the two groups). Factor analysis was done with a principal component analysis followed by a normalized varimax rotation. The Kaiser-Meyer-Olkin measure of sampling adequacy tests was .868 (remarkable) and the Bartlett's test of sphericity was 2 (153)=1,835.76, P<.0005, indicating the appropriateness of the factor analysis. This two-factor model accounted for 37.81% of the explained variance. The α-coefficient of the two factors was .84 and .82. The original strategy proposed 24 point for cut-off: sensitivity (81.9%), specificity (74.7%), PPV (50.0%), NPV (93.0%), kappa coefficient .78 and area under the curve (AUC) .89. The new score strategy proposed by our group suggests different cut-off for different clinical presentations. The 24 point is the best cut-off for ADHD combined presentation: sensitivity (81.9%), specificity (87.3%), PPV (78.6%), NPV (89.4%), kappa coefficient .88 and AUC .94, and 21 point is the best cut-off for ADHD predominantly inattentive presentation: sensitivity (70.2%), specificity (76.1%), PPV (71.7%), NPV (74.8%), kappa coefficient .88 and AUC .94. CONCLUSIONS: In this study, the Spanish version of the ADHD-RS is a valid scale to discriminate between ADHD adults and controls. The new proposed score strategy suggests the relevance of clinical presentations in the different cut-offs selected.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Escalas de Graduação Psiquiátrica , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Psicometria , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Espanha , Traduções
15.
Sci Rep ; 7(1): 5407, 2017 Jul 14.
Artigo em Inglês | MEDLINE | ID: mdl-28710364

RESUMO

Attention Deficit Hyperactivity Disorder (ADHD) is a common childhood-onset neurodevelopmental condition characterized by pervasive impairment of attention, hyperactivity, and/or impulsivity that can persist into adulthood. The aetiology of ADHD is complex and multifactorial and, despite the wealth of evidence for its high heritability, genetic studies have provided modest evidence for the involvement of specific genes and have failed to identify consistent and replicable results. Due to the lack of robust findings, we performed gene-wide and pathway enrichment analyses using pre-existing GWAS data from 607 persistent ADHD subjects and 584 controls, produced by our group. Subsequently, expression profiles of genes surpassing a follow-up threshold of P-value < 1e-03 in the gene-wide analyses were tested in peripheral blood mononucleated cells (PBMCs) of 45 medication-naive adults with ADHD and 39 healthy unrelated controls. We found preliminary evidence for genetic association between RNF122 and ADHD and for its overexpression in adults with ADHD. RNF122 encodes for an E3 ubiquitin ligase involved in the proteasome-mediated processing, trafficking, and degradation of proteins that acts as an essential mediator of the substrate specificity of ubiquitin ligation. Thus, our findings support previous data that place the ubiquitin-proteasome system as a promising candidate for its involvement in the aetiology of ADHD.

16.
Curr Neuropharmacol ; 15(2): 315-323, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-27009114

RESUMO

BACKGROUND: In the field of dual diagnosis, physicians are frequently presented with pharmacological questions. Questions about the risk of developing psychotic symptoms in cocaine users who need treatment with dopaminergic drugs could lead to an undertreatment. OBJECTIVE: Review the presence of psychotic symptoms in patients with cocaine abuse/dependence, in treatment with dopaminergic drugs. METHODS: Systematic PubMed searches were conducted including December 2014, using the keywords: "cocaine", dopaminergic drug ("disulfuram-methylphenidate-bupropion-bromocriptine-sibutramineapomorphine- caffeine") and ("psychosis-psychotic symptoms-delusional-paranoia"). Articles in English, Spanish, Portuguese, French, and Italian were included. Articles in which there was no history of cocaine abuse/dependence, absence of psychotic symptoms, systematic reviews, and animal studies, were excluded. RESULTS: 313 papers were reviewed. 7 articles fulfilled the inclusion-exclusion criteria. There is a clinical trial including 8 cocaine-dependent patients using disulfiram in which 3 of them presented psychotic symptoms and 6 case-reports: disulfuram (1), methylphenidate (1), disulfiram with methylphenidate (2), and bupropion (2), reporting psychotic symptoms, especially delusions of reference and persecutory ideation. CONCLUSION: Few cases have been described, which suggests that the appearance of these symptoms is infrequent. The synergy of dopaminergic effects or the dopaminergic sensitization in chronic consumption are the explanatory theories proposed by the authors. In these cases, a relationship was found between taking these drugs and the appearance of psychotic symptoms. Given the low number of studies found, further research is required. The risk of psychotic symptoms seems to be acceptable if we compare it with the benefits for the patients but a closer monitoring seems to be advisable.


Assuntos
Transtornos Relacionados ao Uso de Cocaína/complicações , Dopaminérgicos/uso terapêutico , Transtornos Psicóticos/tratamento farmacológico , Transtornos Psicóticos/etiologia , Transtornos Relacionados ao Uso de Cocaína/etiologia , Bases de Dados Bibliográficas/estatística & dados numéricos , Humanos
17.
J Addict Med ; 11(2): 154-156, 2017 Mar/Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27926589

RESUMO

Few studies have described movement disorders as withdrawal symptoms during psychostimulant detoxification. Although dystonia has been reported as an uncommon adverse effect of methylphenidate treatment, it has not been described in the context of methylphenidate withdrawal. We report a case of dystonia as the main withdrawal symptom in a methylphenidate-dependent adult participating in an inpatient methylphenidate detoxification program. Although movement disorders such as dystonia are very rare adverse effects of methylphenidate withdrawal, practitioners need to be alert to this risk in order to initiate appropriate treatment.


Assuntos
Transtornos Relacionados ao Uso de Anfetaminas/complicações , Estimulantes do Sistema Nervoso Central/efeitos adversos , Distonia/etiologia , Metilfenidato/efeitos adversos , Síndrome de Abstinência a Substâncias/complicações , Adulto , Humanos , Masculino
18.
Front Psychiatry ; 7: 181, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27933002

RESUMO

OBJECTIVE: To examine the demographic and clinical differences between men and women admitted to a Physicians' Health Programme (PHP). METHOD: Retrospective chart review of 778 medical records of physicians admitted to the Barcelona PHP from February 1, 1998 until December 31, 2015. RESULTS: Women admitted to the Barcelona PHP were younger than men, were more likely to be self-referred and to be admitted for a non-addictive mental disorder. Prevalence of unipolar affective disorders (60.1 vs. 37.6%), adjustment disorders (62.4 vs. 37.6%), and obsessive-compulsive disorder (61.1 vs. 38.9%) was significantly higher among women, whereas prevalence of alcohol use disorders was lower (32.7 vs. 67.3%). Nevertheless, both groups were similar with regard to medical specialty, working status, length of their first treatment episode, and presence of hospitalization during that episode. After multivariate analysis, age, type of referral, and main diagnosis (addictive disorders vs. other mental disorders) discriminated the differences between groups. CONCLUSION: Women physicians seem to be more prone to voluntarily ask for help from PHPs and are more likely to suffer from mood and anxiety disorders compared to men. However, mental disorders' severity may be similar in both groups. More studies are needed to clarify the gender factors related to this behavior.

19.
Sci Rep ; 6: 31033, 2016 08 08.
Artigo em Inglês | MEDLINE | ID: mdl-27498889

RESUMO

Cocaine dependence is a complex psychiatric disorder involving both genetic and environmental factors. Several neurotransmitter systems mediate cocaine's effects, dependence and relapse, being the components of the neurotransmitter release machinery good candidates for the disorder. Previously, we identified a risk haplotype for cocaine dependence in the NSF gene, encoding the protein N-Ethylmaleimide-Sensitive Factor essential for synaptic vesicle turnover. Here we examined the possible contribution to cocaine dependence of a large copy number variant (CNV) that encompasses part of the NSF gene. We performed a case-control association study in a discovery sample (359 cases and 356 controls) and identified an association between cocaine dependence and the CNV (P = 0.013), that was confirmed in the replication sample (508 cases and 569 controls, P = 7.1e-03) and in a pooled analysis (P = 1.8e-04), with an over-representation of low number of copies in cases. Subsequently, we studied the functional impact of the CNV on gene expression and found that the levels of two NSF transcripts were significantly increased in peripheral blood mononuclear cells (PBMC) along with the number of copies of the CNV. These results, together with a previous study from our group, support the role of NSF in the susceptibility to cocaine dependence.


Assuntos
Transtornos Relacionados ao Uso de Cocaína/genética , Proteínas Sensíveis a N-Etilmaleimida/genética , Adulto , Idoso , Estudos de Casos e Controles , Variações do Número de Cópias de DNA , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade
20.
Psychiatry Res Neuroimaging ; 254: 41-7, 2016 08 30.
Artigo em Inglês | MEDLINE | ID: mdl-27318593

RESUMO

UNLABELLED: Attention Deficit Hyperactivity Disorder (ADHD) commonly affects children, although the symptoms persist into adulthood in approximately 50% of cases. Structural imaging studies in children have documented both cortical and subcortical changes in the brain. However, there have been only a few studies in adults and the results are inconclusive. METHOD: Voxel-based morphometry (VBM) was applied to 44 adults with ADHD, Combined subtype, aged 18-54 years and 44 healthy controls matched for age, sex and IQ. RESULTS: ADHD patients showed reduced gray matter (GM) volume in the right supplementary motor area (SMA). Using more lenient thresholds we also observed reductions in the subgenual anterior cingulate (ACC) and right dorsolateral prefrontal (DLPFC) cortices and increases in the basal ganglia, specifically in the left caudate nucleus and putamen. There was a positive correlation between the cumulative stimulant dose and volume in the right SMA and DLPFC clusters. CONCLUSIONS: The findings suggest that adults with ADHD show brain structural changes in regions belonging to the so-called cool executive function network. Long-term stimulant medication may act to normalize these GM alterations.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/patologia , Função Executiva/fisiologia , Giro do Cíngulo/patologia , Imagem por Ressonância Magnética/métodos , Córtex Motor/patologia , Córtex Pré-Frontal/patologia , Adolescente , Adulto , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico por imagem , Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Feminino , Giro do Cíngulo/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Córtex Motor/diagnóstico por imagem , Córtex Pré-Frontal/diagnóstico por imagem , Adulto Jovem
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