Genetic variants associated with response to lithium treatment in bipolar disorder: a genome-wide association study.

BACKGROUND: Lithium is a first-line treatment in bipolar disorder, but individual response is variable. Previous studies have suggested that lithium response is a heritable trait. However, no genetic markers of treatment response have been reproducibly identified. METHODS: Here, we report the results of a genome-wide association study of lithium response in 2563 patients collected by 22 participating sites from the International Consortium on Lithium Genetics (ConLiGen). Data from common single nucleotide polymorphisms (SNPs) were tested for association with categorical and continuous ratings of lithium response. Lithium response was measured using a well established scale (Alda scale). Genotyped SNPs were used to generate data at more than 6 million sites, using standard genomic imputation methods. Traits were regressed against genotype dosage. Results were combined across two batches by meta-analysis. FINDINGS: A single locus of four linked SNPs on chromosome 21 met genome-wide significance criteria for association with lithium response (rs79663003, p=1·37 × 10(-8); rs78015114, p=1·31 × 10(-8); rs74795342, p=3·31 × 10(-9); and rs75222709, p=3·50 × 10(-9)). In an independent, prospective study of 73 patients treated with lithium monotherapy for a period of up to 2 years, carriers of the response-associated alleles had a significantly lower rate of relapse than carriers of the alternate alleles (p=0·03268, hazard ratio 3·8, 95% CI 1·1-13·0). INTERPRETATION: The response-associated region contains two genes for long, non-coding RNAs (lncRNAs), AL157359.3 and AL157359.4. LncRNAs are increasingly appreciated as important regulators of gene expression, particularly in the CNS. Confirmed biomarkers of lithium response would constitute an important step forward in the clinical management of bipolar disorder. Further studies are needed to establish the biological context and potential clinical utility of these findings. FUNDING: Deutsche Forschungsgemeinschaft, National Institute of Mental Health Intramural Research Program.

Values and DSM-5: looking at the debate on attenuated psychosis syndrome.

BACKGROUND: Although values have increasingly received attention in psychiatric literature over the last three decades, their role has been only partially acknowledged in psychiatric classification endeavors. The review process of the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) received harsh criticism, and was even considered secretive by some authors. Also, it lacked an official discussion of values at play. In this perspective paper we briefly discuss the interplay of some values in the scientific and non-scientific debate around one of the most debated DSM-5 category proposals, the Attenuated Psychosis Syndrome (APS). Then, we point out some ethical consequences of a facts-plus-values perspective in psychiatric classification. DISCUSSION: Different stakeholders participated in the APS-debate and for analytical purposes we divided them into four groups: (i) researchers in the field of high-risk mental states; (ii) the DSM-5 Psychotic Disorders Work Group; (iii) patient, carers and advocacy groups; and (iv) external stakeholders, not related to the previous groups, but which also publicly expressed their opinions about APS inclusion in DSM-5. We found that each group differently stressed the role of values we examined in the APS-debate. These values were ethical, but also epistemic, political, economic and ontological. The prominence given to some values, and the lack of discussion about others, generated divergent positions among stakeholders in the debate. As exemplified by the APS discussion, although medicine is primarily an ethical endeavor, values of different kinds that take part in it also shape to a large extent the profession. Thus, it may be strategic to openly discuss values at play in the elaboration of diagnostic tools and classificatory systems. This task, more than scientifically or politically significant, is ethically important.

Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.

The 22q11.2 deletion is the most frequent interstitial deletion in humans and presents a wide phenotypic spectrum, with over 180 clinical manifestations described. Distinct studies have detected frequencies of the deletion ranging from 0 % to 75 %, depending on the studied population and selection criteria adopted. Due to the lack of consensus in this matter, several studies have been conducted aiming to define which patients would be eligible for screening; however, the issue is still up for debate. In order to contribute to the delineation of possible clinical and dysmorphologic guidelines to optimize decision making in the clinical setting, 194 individuals with variable features of the 22q11.2 deletion syndromes (22q11.2DS) were evaluated. Group I, clinical suspicion of 22q11.2DS with palatal anomalies; Group II, clinical suspicion without palatal anomalies; Group III, cardiac malformations associated with the 22q11.2DS; and Group IV, juvenile-onset schizophrenia. Multiplex ligation-dependent probe amplification was used for screening the 22q11.2 deletion, which was detected in 45 patients (23.2 %), distributed as such: Group I, 35/101 (34.7 %); Group II, 4/18 (22.2 %); Group III, 6/52 (11.5 %); and Group IV, 0/23 (0 %). Clinical data were analyzed by frequency distribution and statistically. Based on the present results and on the review of the literature, we propose a set of guidelines for screening patients with distinct manifestations of the 22q11.2DS in order to maximize resources. In addition, we report the dysmorphic features which we found to be statistically correlated with the presence of the 22q11.2DS.

Refinement of chromosome 3p22.3 region and identification of a susceptibility gene for bipolar affective disorder.

Genome-wide association studies and meta-analysis, as well as our own previous family-based association results, have pointed to chromosome (ch) 3p22.3 and 3p21.1 as candidate regions to contain a susceptibility gene for bipolar affective disorder (BPAD). In the present study, we further refined the region of interest on ch 3p22.3. We genotyped 94 SNPs within the candidate region in 74 families and performed family-based association analysis using a transmission disequilibrium test. One single SNP (rs166508) was associated with the BPAD phenotype (P = 0.0187). This SNP is located within intron 15 of the integrin alpha 9 (ITGA9) gene. ITGA9 encodes the α9 subunit of the α9ß1 integrin, a membrane glycoprotein receptor for neurotrophins, such as nerve growth factor (NGF) and brain-derived neurotrophic factor (BDNF). Quantification of ITGA9 transcripts in the peripheral blood of patients with BPAD and controls showed an upregulation of ITGA9 (Kruskal-Wallis P = 0.0339) in patients with the disease-associated genotype (rs166508*A/A), compared to those with rs166508*G/G and rs166508*G/A genotypes. Sequencing of the ITGA9 cDNA revealed a sequence variant (r.1689_1839del) in rs166508*A carriers, which leads to loss of the entire exon 16. In silico analysis revealed that the deleted region contains three putative microRNA binding sites, which may be involved in the negative regulation of ITGA9. In conclusion, our results confirm previous evidence pointing to a candidate region for BPAD on ch 3p.22.3. In addition, we suggest a molecular substrate that could explain the increase of ITGA9 mRNA levels in probands with BPAD, proposing a new mechanism that could be involved in the genetic susceptibility to the disease.

Person-centred integrative diagnosis: conceptual bases and structural model.

OBJECTIVES: To review the conceptual bases of Person-centred Integrative Diagnosis (PID) as a component and contributor to person-centred psychiatry and medicine and to outline its design and development. METHOD: An analysis was conducted of the historical roots of person-centred psychiatry and medicine, tracing them back to ancient Eastern and Western civilizations, to the vicissitudes of modern medicine, to recent clinical and conceptual developments, and to emerging efforts to reprioritize medicine from disease to patient to person in collaboration with the World Medical Association, the World Health Organization, the World Organization of Family Doctors, the World Federation for Mental Health, and numerous other global health entities, and with the coordinating support of the International Network for Person-centered Medicine. RESULTS: One of the prominent endeavours within the broad paradigmatic health development outlined above is the design of PID. This diagnostic model articulates science and humanism to obtain a diagnosis of the person (of the totality of the person's health, both ill and positive aspects), by the person (with clinicians extending themselves as full human beings), for the person (assisting the fulfillment of the person's health aspirations and life project), and with the person (in respectful and empowering relationship with the person who consults). This broader and deeper notion of diagnosis goes beyond the more restricted concepts of nosological and differential diagnoses. The proposed PID model is defined by 3 keys: broad informational domains, covering both ill health and positive health along 3 levels: health status, experience of health, and contributors to health; pluralistic descriptive procedures (categories, dimensions and narratives); and evaluative partnerships among clinicians, patients, and families. An unfolding research program is focused on the construction of a practical guide and its evaluation, followed by efforts to facilitate clinical implementation and training. CONCLUSIONS: PID is aimed at appraising overall health through pluralistic descriptions and evaluative partnerships, and leading through a research program to more effective, integrative, and person-centred health care.

Psychopathological features in patients with Parkinson's disease and related caregivers' burden.

BACKGROUND: Along with classical motor disorders in Parkinson's disease (PD), psychopathological features frequently co-occur, which may increase the caregiver's burden. AIMS: To identify the profile of psychopathological symptoms in patients with PD and the impact imposed by this condition on the caregiver's burden. SUBJECTS: Fifty patients with idiopathic PD seen consecutively at the Movement Disorder Outpatient Clinic at the Hospital of State University of Campinas, Brazil, and their 50 respective caregivers were studied. METHODS: The 50 patients with PD were divided into three groups according to the respective psychiatric diagnosis received (depression: N = 17, dementia: N = 13 and non-depressed and non-demented: N = 20). We divided the caregivers into three groups according to the mental condition of their patients. To assess the mental condition of patients and the caregiver's burden, and to correlate those psychopathological features found with clinical features of PD, we applied the Neuropsychiatric Inventory (NPI). RESULTS: Patients with dementia presented the highest NPI scores of psychopathological symptoms (26.4), followed by patients with depression (24.9). Non-depressed and non-demented patients revealed fewer symptoms (7.2). Caregivers' burden was found to be proportional to the degree of patients' symptomatology. CONCLUSION: Patients with dementia presented more severe motor impairment and lower functionality, followed by patients with depression and those non-demented, non-depressed. Psychotic symptoms, agitation, aberrant motor behaviours and sleep disturbances were higher in dementia group. Neuropsychiatric disturbances correlated with caregiver's burden, which was highest in patients with dementia.

Depression in patients with Parkinson's disease: impact on functioning.

Depression is a frequently observed neuropsychiatric phenomenon in Parkinson's disease (PD) and it has been lately considered as a manifestation of such disease. The aim of the study was to investigate the relationship between depression and clinical aspects of PD and to assess the impact of the co-occurrence of such condition on the burden imposed by PD. Fifty outpatients diagnosed with idiopathic PD according to the London Brain Bank criteria were examined. PD was evaluated using Hoehn & Yahr staging (H&Y), United Parkinson's Disease Rating Scale (UPDRS) and Schwab & England (S&E) functional capacity evaluation. A semi-structured clinical interview was used. The diagnosis of PD was made by neurologist experts on movement disorders, and the diagnosis of depression was made by a psychiatrist, according to the ICD-10 diagnostic criteria. Depressive symptoms were additionally measured using the Montgomery-Asberg Depression Scale. The analysis of quantitative data was performed using descriptive statistics, univariate linear regression, T-Student Test and ANOVA. Seventeen (34%) patients were diagnosed as clinically depressed and, when compared to the non-depressed ones, presented the following results: H&Y: 3.2 vs. 2.8; UPDRS total: 75.7 vs. 65.3; S&E: 53.5% vs. 65.8% and PD duration: 114.4 months vs. 125.8 months. Depressed patients showed more advanced staging (H&Y), a more severe global clinical condition (UPDRS) and also a greater decrease in their functional capacity (S&E). These data reinforce the hypothesis that depression is associated to poorer functioning in patients with PD.

Risk factors for vascular dementia in elderly psychiatric outpatients with preserved cognitive functions.

The aim of the study was to assess risk factors for vascular dementia (VaD) in elderly psychiatric outpatients without dementia, and to determine to what extent clinical interventions targeted such risk factors. Out of 250 clinical charts, 78 were selected of patients over 60 years old, who showed no signs of dementia. Information was obtained regarding demographics, clinical conditions (diagnosis according to ICD-10), complementary investigation, cognitive functions (via CAMCOG), neuroimaging, and the presence of risk factors for VaD. Depression was the most prevalent psychiatric disorder (74%). A great majority of the patients (86%) had at least one risk factor for VaD. One-third of the sample showed three or more risk factors for VaD. The clinical conditions related to risk factors for VaD were hypertension (48.7%), heart disease (30.8%), hypercholesterolemia (25.6%), diabetes mellitus (23.1%), stroke (12.8%), tryglyceride (12.8%), and obesity (5.1%). In terms of lifestyle, smoking (19.2%), alcohol abuse (16.7%), and sedentarism (14.1%) were other risk factors found. Definite risk factors for VaD were found in 83.3% of the patients. Previous interventions targeting risk factors were found in only 20% of the cases. The high rates of risk factors for VaD identified in this sample suggest that psychiatrists should be more attentive to these factors for the prevention of VaD.

The depressed text / O texto deprimido / Le texte déprimé / El texto deprimido

North American writer David Foster Wallace wrote two short stories - The Planet Trillaphon As It Stands In Relation To The Bad Thing and The Depressed Person - that depict depression, in each one taking different yet complementary perspectives on this subject. Our aim is to analyze these texts and to discuss the role literature can have in regard to the apprehension of subjective experiences of others. Whereas the first text attempts to describe depression objectively, the second one describes the impossibility of doing so, focusing on literary techniques that create distressing subjective experiences in the reader, possibly resembling those felt by depressed persons. We suggest that literature might be helpful to comprehend some aspects of the experience of being depressed and that such an understanding may enrich psychiatric practice.

O escritor estadunidense David Foster Wallace escreveu dois contos - The Planet Trillaphon As It Stand In Relation To The Bad Thing e The Depressed Person - que abordam a temática da depressão, em cada um adotando perspectivas distintas e complementares. Nosso objetivo é analisar esses textos e discutir alguns aspectos do acesso à experiência subjetiva de outras pessoas, mais especificamente o papel da literatura nesse processo. Enquanto o primeiro texto descreve a depressão objetivamente, o segundo descreve a impossibilidade de fazer tal descrição, focando em técnicas literárias que criam experiências subjetivas desagradáveis, possivelmente semelhantes às sentidas pelas pessoas deprimidas. Nós sugerimos que a literatura pode ser útil na compreensão de alguns aspectos da experiência de estar deprimido, e que tal compreensão pode enriquecer a prática psiquiátrica.

L'écrivain nord-américain David Foster Wallace a écrit deux contes - « The Planet Trillaphon As It Stand In Relation To The Bad Thing ¼ et « The Depressed Person ¼ - abordant le thème de la dépression, en adoptant dans chacun de ces textes des perspectives distinctes et complémentaires. Notre but est de les analyser et de discuter certains aspects de l'accès à l'expérience subjective d'autres personnes, en nous intéressant tout particulièrement au rôle de la littérature dans ce processus. Alors que le premier texte décrit la dépression de façon objective, le second décrit l'impossibilité d'en faire une telle description, se concentrant sur des techniques littéraires créant des expériences subjectives désagréables, potentiellement semblables à celles ressenties par les personnes déprimées. Nous suggérons que la littérature peut être utile dans la compréhension de certains aspects de l'expérience de l'être déprimé et qu'une telle compréhension peut enrichir la pratique psychiatrique.

El escritor estadounidense David Foster Wallace escribió dos cuentos - The Planet Trillaphon As It Stand In Relation To The Bad Thing y The Depressed Person- que abordan la temática de la depresión y que adoptan perspectivas distintas y complementarias. Nuestro objetivo es analizar dichos textos y discutir algunos aspectos del acceso a la experiencia subjetiva de otras personas, más específicamente el papel de la literatura en ese proceso. Mientras que el primer texto describe la depresión objetivamente, el segundo describe la imposibilidad de hacer dicha descripción, centrándose en técnicas literarias que crean experiencias subjetivas desagradables, posiblemente semejantes a las sentidas por las personas deprimidas. Sugerimos que la literatura puede ser útil para la comprensión de algunos aspectos de la experiencia de estar deprimido, y que tal comprensión puede enriquecer la práctica psiquiátrica.

Moving beyond psychiatric diagnosis and the medical framework towards social recovery: an interview with Jim van Os / Para além do diagnóstico psiquiátrico e do modelo médico, na busca pelo "recovery" social: uma entrevista com Jim van Os / Au-delà du diagnostic psychiatrique et du modèle médical vers le social recovery: un entretien avec Jim van Os / Más allá del diagnóstico psiquiátrico y del modelo médico hacia en la búsqueda del social recovery: una entrevista con Jim van Os

There is a growing realization in the field of psychiatry that we are unable to free ourselves of the constraints imposed by our concepts, as well as to move beyond them. Thus, the field demands not only more robust empirical evidence but also a more sophisticated conceptual framework, which would allow for critical and innovative thinking to conceive and to build better models of mental health care. In this spirit, we present a very thought-provoking interview with Dutch psychiatrist Jim van Os, encompassing biographical issues from his academic background as well as his ideas on recovery and the Dutch experience of the recovery colleges as a "shadow mental health system" in the Netherlands. Adopting a critical stance on psychiatric diagnosis and the validity of group-level comparisons in evidence-based psychiatry, and in line with the ideals of the recovery movement, van Os points out that the process of healing should surpass symptom reduction. For him, it should take into account the long-term process of developing resilience, learning to deal with suffering through interactions with other people, building up new perspectives, goals, and existential purposes. In other words, he emphasizes the idea of social recovery and favors the thought that mental health professionals should try to "help people to relate better to their mental variation and offer them ways of doing that differently."

Há uma crescente percepção no campo da psiquiatria de que somos incapazes de nos liberar das restrições impostas pelos conceitos do campo, bem como ir além deles. Assim, o campo demanda não somente evidências empíricas mais robustas, mas também um quadro de referências conceituais que permita um pensamento crítico e inovador que conceba e construa modelos mais apropriados de cuidado à saúde mental. Nesse espírito, apresentamos uma entrevista provocativa com o psiquiatria holandês Jim van Os, abrangendo desde questões sobre sua formação acadêmica até suas ideias sobre recovery e sobre a experiência dos recovery colleges na Holanda como "um sistema de saúde mental invisível". Adotando uma posição crítica sobre o diagnóstico psiquiátrico e a validade das comparações grupais preconizadas pela medicina baseada em evidências, e em sintonia com o movimento conhecido como recovery, van Os destaca que o processo de cura deve ir além da redução de sintomas. Para ele, é preciso levar em conta o longo processo de desenvolvimento de resiliência, aprendendo com os outros a lidar com o sofrimento, e construindo novas perspectivas, objetivos e propósitos existenciais. Em outras palavras, a ênfase recai sobre a ideia de social recovery e favorece a ideia de que profissionais de saúde mental devem "ajudar as pessoas a se relacionarem melhor com suas variações psicológicas e oferecer a elas formas diferentes de chegar até isso."

Il y a une perception croissante dans le champ de la psychiatrie selon laquelle nous ne sommes pas en mesure de nous libérer des contraintes imposées par les concepts de ce domaine, encore moins de les dépasser. Ainsi, le champ de la psychiatrie exigerait non seulement des évidences empiriques plus solides, mais aussi un cadre de références conceptuelles procurant une pensée critique et novatrice capable de concevoir et de construire des modèles plus appropriés aux soins de santé mentale. Dans cette démarche, nous présentons un entretien provocateur avec le psychiatre néerlandais Jim van Os, couvrant des questions sur son parcours universitaire, ainsi que ses idées sur le recovery, et sur l'expérience des recovery colleges aux Pays-Bas en tant que « système de santé mentale invisible ¼. C'est en adoptant une démarche critique à l'égard du diagnostic psychiatrique et de la validité des comparaisons de groupes préconisées par la médecine fondée sur les preuves et en accord avec le mouvement connu sous le nom de recovery que van Os souligne que le processus de guérison doit aller au-delà de la réduction des symptômes. Pour lui, il faut prendre en compte le long mouvement de développement de la résilience, de sorte à apprendre d'autrui comment faire face à la souffrance, pour construire de nouvelles perspectives, de nouveaux objectifs et de nouvelles finalités existentielles. Ses contributions soulignent le concept de social recovery et favorisent l'idée selon laquelle les professionnels de la santé mentale devraient «aider les gens à mieux gérer leurs variations psychologiques et leur proposer différentes façons d'y parvenir¼.

Hay una percepción creciente, en el campo de la psiquiatría, de que somos incapaces de librarnos de las restricciones impuestas por los conceptos del campo, así como también de ir más allá de ellas. Por lo tanto, el campo demanda no solamente evidencias empíricas más robustas, sino un marco de referencias conceptuales que permita un pensamiento crítico e innovador que conciba y construya modelos más apropiados de cuidado de la salud mental. En ese sentido, presentamos una provocadora entrevista con el psiquiatra holandés Jim van Os, abarcando, desde cuestiones sobre su formación académica hasta sus ideas sobre recovery y la experiencia de los recovery colleges en Holanda como "un sistema de salud mental invisible". Adoptando una postura crítica sobre el diagnóstico psiquiátrico y la validez de las comparaciones grupales defendidas por la medicina basada en evidencias, y alineado con el movimiento conocido como recovery, van Os destaca que el proceso de curar debe ir más allá de la reducción de los síntomas. Para él, es necesario considerar el largo proceso de desarrollo de la resiliencia, aprendiendo a lidiar con el sufrimiento a través de la interacción con los otros y construyendo nuevas perspectivas, objetivos y propósitos existenciales. En otras palabras, el énfasis recae sobre la idea del social recovery, favoreciendo la noción de que los profesionales de la salud mental deben "ayudar a las personas a relacionarse mejor con sus variaciones psicológicas y ofrecerles diferentes formas para llegar a ello".

Making sense of the subjective experience of others / A apreensão da experiência subjetiva de outros / Lappréhension de lexpérience subjective dautrui / La aprehensión de la experiencia subjetiva de otros

In this article, we address some conceptual issues that are logically prior to the constitution of any psychopathology. We explore ontological and epistemological aspects of subjective experience, rejecting both Cartesianism and behaviorism, and favoring the Wittgensteinian notion of criterial support instead. Then, we discuss the disanalogy between knowledge of other minds and our knowledge of anything else. Based on the arguments by Eilan's that the "communication claim" should replace the "observation claim," we defend that there is a kind of knowledge that is irreducibly founded on intersubjectivity (that is, knowledge of persons is knowledge for two) and point out to implications it may have for psychopathology.

Neste artigo, abordamos algumas questões conceituais logicamente anteriores à constituição de qualquer forma de psicopatologia. Exploramos, ontológica e epistemologicamente, aspectos da experiência subjetiva, e rejeitamos tanto o cartesianismo quanto o behaviorismo em favor da noção wittgensteiniana de apoio criterial. Assim, discutimos a dessemelhança entre o conhecimento de outras mentes e o conhecimento de qualquer outra coisa. Baseados nos argumentos fornecidos por Eilan, segundo os quais o "modelo da comunicação" deve substituir o "modelo da observação", defendemos que há um tipo de conhecimento que é irredutivelmente fundado na intersubjetividade (isto é, o conhecimento de pessoas é conhecimento a dois) e apontamos as implicações que isso pode ter para a psicopatologia..

Dans cet article, nous abordons quelques questions conceptuelles qui précèdent logiquement la constitution de toute forme de psychopathologie. Nous explorons les aspects ontologiques et épistémologiques de l'expérience subjective en détriment du cartésianisme et du behaviorisme, nous privilégions la notion wittgensteinienne de soutien critériel. Ainsi, nous discutons la disanalogie entre la connaissance des autres esprits et notre connaissance de toute autre chose. Sur la base des arguments proposés par Eilan, selon lesquels le « modèle de communication ¼ devrait remplacer le « modèle d'observation ¼, nous défendons qu'il existe un type de connaissance irréductiblement fondé sur l'intersubjectivité (c'est-à-dire que la connaissance des personnes est une connaissance partagée) et soulignons les implications que cela peut avoir pour la psychopathologie.

En este artículo, abordamos algunas cuestiones conceptuales lógicamente previas a la constitución de cualquier forma de psicopatología. Exploramos ontológica y epistemológicamente aspectos de la experiencia subjetiva, rechazando tanto al Cartesianismo como al conductismo (behaviorismo), favoreciendo, en cambio, a la noción wittigensteiniana de apoyo de criterio. Así, discutimos la desanalogía entre el conocimiento de otras mentes y el conocimiento de cualquier otra cosa. Basándonos en los argumentos proporcionados por Eilan, según los cuales el "modelo de comunicación" debe sustituir al "modelo de la observación", defendemos que hay un tipo de conocimiento que es irreductiblemente fundado en la intersubjetividad (es decir, el conocimiento de personas es conocimiento para dos) y señalamos las implicaciones que eso puede tener para la psicopatología.

[Patients who benefit from psychiatric admission in the general hospital]. / Pacientes que se beneficiam de internação psiquiátrica em hospital geral.

OBJECTIVES: Psychiatric hospitalization though burdensome remains a very important therapeutic option for severely-ill psychiatric patients. Hospitalization in general hospital psychiatry units (GHPU) are often regarded as the best option. A study was carried out with the purpose of assessing socioeconomic and medical variables associated with success and failure of hospitalization. METHODS: A review was performed on sociodemographics and medical data of 1,463 patients admitted to a general hospital's GHPU in the period between 1986 and 1997. Statistical analysis was conducted using univariate and multivariate polythomic logistic regression. RESULTS: In the multivariate analysis three factors were identified as associated to poor hospitalization outcomes (poor condition at discharge and longer hospital stay): age >60 years, poor social functioning, and diagnosis of organic mental disorder. CONCLUSIONS: Although 80% of the patients experienced a considerable symptomatic improvement, a small group benefited less from hospitalization. It is suggestive that these patients would benefit more from psychosocial interventions.

Pregnancy delusion hinders the diagnosis of achalasia in a patient with life-threatening emaciation.

Abnormal eating behaviour among psychiatric patients is associated with several psychiatric conditions, but may also be caused by a comorbid physical condition. Clinical assessment of a psychiatric patient is often challenging, which contributes to an increased rate of undiagnosed medical conditions and an increased mortality rate. We present the clinical case of a 46-year-old woman with a long-term delusion of triplet pregnancy, and recurrent vomiting. She experienced intense weight loss and eventually faced a life-threatening situation due to achalasia, which was incidentally discovered on a chest X-ray during her second psychiatric hospitalization, after several other tests, including upper digestive endoscopy, returned normal results. After a successful laparoscopic Heller's myotomy, her digestive symptoms greatly improved. This report illustrates the difficulty of establishing clinical-surgical diagnoses in psychotic patients, as some delusions seem to explain clinical complaints, masking and delaying the diagnosis of comorbid conditions.

Cognitive and behavioral heterogeneity in genetic syndromes.

OBJECTIVE: this study aimed to investigate the cognitive and behavioral profiles, as well as the psychiatric symptoms and disorders in children with three different genetic syndromes with similar sociocultural and socioeconomic backgrounds. METHODS: thirty-four children aged 6 to 16 years, with Williams-Beuren syndrome (n=10), Prader-Willi syndrome (n=11), and Fragile X syndrome (n=13) from the outpatient clinics of Child Psychiatry and Medical Genetics Department were cognitively assessed through the Wechsler Intelligence Scale for Children (WISC-III). Afterwards, a full-scale intelligence quotient (IQ), verbal IQ, performance IQ, standard subtest scores, as well as frequency of psychiatric symptoms and disorders were compared among the three syndromes. RESULTS: significant differences were found among the syndromes concerning verbal IQ and verbal and performance subtests. Post-hoc analysis demonstrated that vocabulary and comprehension subtest scores were significantly higher in Williams-Beuren syndrome in comparison with Prader-Willi and Fragile X syndromes, and block design and object assembly scores were significantly higher in Prader-Willi syndrome compared with Williams-Beuren and Fragile X syndromes. Additionally, there were significant differences between the syndromes concerning behavioral features and psychiatric symptoms. The Prader-Willi syndrome group presented a higher frequency of hyperphagia and self-injurious behaviors. The Fragile X syndrome group showed a higher frequency of social interaction deficits; such difference nearly reached statistical significance. CONCLUSION: the three genetic syndromes exhibited distinctive cognitive, behavioral, and psychiatric patterns.

Correlation between insight dimensions and cognitive functions in patients with deficit and nondeficit schizophrenia.

Previous studies have shown correlations between poor insight and neurocognitive impairment in schizophrenia. Deficit schizophrenia has been associated with worse cognitive functioning and poorer insight. This study aimed at investigating the relationship between insight dimensions (measured by Schedule for the Assessment of Insight-Expanded Version and its factors) and specific neurocognitive functions (assessed through a battery of neuropsychological tests) considering separately patients with deficit (n=29) and nondeficit schizophrenia (n=44), categorized according to the Schedule for the Deficit Syndrome. We found that working memory correlated positively and significantly with awareness of mental illness in both groups. In nondeficit group, awareness of mental illness correlated additionally with verbal fluency and attention. If confirmed by further studies, these results may have important consequences, such as the need of tailoring differently cognitive rehabilitation for each group.