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1.
Salud Publica Mex ; 64(4, jul-ago): 406-414, 2022 Jul 08.
Artigo em Espanhol | MEDLINE | ID: mdl-36130370

RESUMO

OBJETIVO: Adaptar y validar al español el Inventario de Criterios Operativos Diagnósticos (OPCRIT 4.0) para tras-tornos psicóticos. Se trata de una herramienta que permite diagnosticar a un paciente mediante las principales clasifica-ciones diagnósticas. Material y métodos. Se realizó la traducción y retrotraducción del inventario original en inglés al español y se comprobó la validez de criterio, la validez concurrente y la fiabilidad interevaluador del mismo, a partir de una muestra de 106 historias clínicas de usuarios adultos de un centro de salud mental comunitario. RESULTADOS: Los datos obtenidos demostraron la validez y fiabilidad de la adaptación del OPCRIT 4.0 en la evaluación de la muestra de historias clínicas. CONCLUSIONES: La adaptación y validación al español del instrumento OPCRIT 4.0 permite disponer de un sistema rápido, fiable y útil para obtener el diagnóstico del trastorno psicótico en un paciente a través de diferentes sistemas de clasificación.


Assuntos
Transtornos Psicóticos , Humanos , Reprodutibilidade dos Testes , Estudos Retrospectivos
2.
Hum Mol Genet ; 27(5): 891-900, 2018 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-29340697

RESUMO

Clinical conditions commonly associated with mitochondrial disorders (CAMDs) are often present in autism spectrum disorders (ASD) and intellectual disability (ID). Therefore, the mitochondrial dysfunction hypothesis has been proposed as a transversal mechanism that may function in both disorders. Here, we investigated the presence of conditions associated with mitochondrial disorders and mitochondrial DNA (mtDNA) alterations in 122 subjects who presented ASD with ID (ASD group), 115 subjects who presented ID but not ASD (ID group) and 112 healthy controls (HC group). We assessed in the three study groups the presence of the clinical conditions through a questionnaire and the mtDNA content of two mitochondrial genes, MT-ND1 and MT-ND4, by qPCR. The mtDNA sequences of 98 ASD and 95 ID subjects were obtained by mtDNA-targeted next generation sequencing and analysed through the MToolBox pipeline to identify mtDNA mutations. Subjects with ASD and ID showed higher frequencies of constipation, edema, seizures, vision alterations, strabismus and sphincter incontinence than HCs subjects. ASD and ID subjects showed significantly lower mtDNA content than HCs in both MT-ND1 and MT-ND4 genes. In addition, we identified 49 putative pathogenic variants with a heteroplasmy level higher than 60%: 8 missense, 29 rRNA and 12 tRNA variants. A total of 28.6% of ASD and 30.5% of ID subjects carried at least one putative pathogenic mtDNA mutation. The high frequency of CAMDs, the low mtDNA content and the presence of putative pathogenic mtDNA mutations observed in both ASD and ID subjects are evidence of mitochondrial dysfunction in ASD and ID.


Assuntos
Transtorno do Espectro Autista/etiologia , DNA Mitocondrial , Deficiência Intelectual/genética , Doenças Mitocondriais/genética , Adulto , Transtorno do Espectro Autista/genética , Estudos de Casos e Controles , Constipação Intestinal/etiologia , Constipação Intestinal/genética , Estudos Transversais , Edema/etiologia , Edema/genética , Feminino , Humanos , Deficiência Intelectual/etiologia , Masculino , Pessoa de Meia-Idade , Doenças Mitocondriais/etiologia , NADH Desidrogenase/genética , RNA Ribossômico/genética , RNA de Transferência/genética
3.
BMC Psychiatry ; 19(1): 387, 2019 12 05.
Artigo em Inglês | MEDLINE | ID: mdl-31805899

RESUMO

BACKGROUND: To examine whether Borderline Intellectual Functioning (BIF) and Adverse Childhood Experiences independently predict adult psychiatric morbidity. METHODS: We performed a secondary analysis of longitudinal data derived from the 1970 British Birth Cohort Study to examine whether BIF and Adverse Childhood Experiences independently predict adult mental distress as measured by the Malaise Inventory. Factor analysis was used to derive a proxy measure of IQ from cognitive testing at age 10 or 5. Variables that could be indicators of exposure to Adverse Childhood Experiences were identified and grouped into health related and socio-economic related adversity. RESULTS: Children with BIF were significantly more likely than their peers to have been exposed to Adverse Childhood Experiences (BIF mean 5.90, non-BIF mean 3.19; Mann-Whitney z = 31.74, p < 0.001). As adults, participants with BIF were significantly more likely to score above the cut-off on the Malaise Inventory. We found statistically significant relationships between the number of socio-economic Adverse Childhood Experiences and poorer adult psychiatric morbidity (r range 0.104-0.141, all p < 001). At all ages the indirect mediating effects of Adverse Childhood Experiences were significantly related to adult psychiatric morbidity. CONCLUSIONS: The relationship between BIF and adult psychiatric morbidity appears to be partially mediated by exposure to Adverse Childhood Experiences. Where possible, targeting Adverse Childhood Experiences through early detection, prevention and interventions may improve psychiatric morbidity in this population group.


Assuntos
Sobreviventes Adultos de Maus-Tratos Infantis/psicologia , Experiências Adversas da Infância/estatística & dados numéricos , Deficiência Intelectual/epidemiologia , Transtornos Mentais/epidemiologia , Adulto , Estudos de Coortes , Comorbidade , Inglaterra/epidemiologia , Feminino , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/psicologia , Masculino , Prevalência
4.
J Appl Res Intellect Disabil ; 32(1): 15-22, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30009410

RESUMO

BACKGROUND: People with intellectual developmental disorders have significant health disparities and a lack of proper attention to their health needs. They have been underrepresented in scientific research, and very few studies have been carried out using a representative randomized sample. The aim of this study was to describe the methods used in the POMONA-ESP project to recruit a representative and randomized sample of participants with intellectual developmental disorders. METHODS: The POMONA-ESP project is an observational cross-sectional study. It aims to explore the health status of people with intellectual developmental disorders across Spain and the use they make of health services. RESULTS AND CONCLUSIONS: The results of the POMONA-ESP project may have a major impact on people with intellectual developmental disorders and society in general. It is the first study to obtain geographically representative epidemiological data from a large sample, information that is fundamental to improving care and healthcare planning for people with intellectual developmental disorders.


Assuntos
Deficiência Intelectual , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Índice de Gravidade de Doença , Adolescente , Adulto , Idoso , Estudos Transversais , Feminino , Humanos , Deficiência Intelectual/classificação , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/fisiopatologia , Deficiência Intelectual/terapia , Masculino , Pessoa de Meia-Idade , Espanha/epidemiologia , Adulto Jovem
5.
J Appl Res Intellect Disabil ; 32(1): 23-34, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29947460

RESUMO

BACKGROUND: The aim of this paper was to summarize the main results of the POMONA-ESP project, the first study to explore health status in a large representative, randomized and stratified sample of people with intellectual developmental disorders in Spain. METHODS: The POMONA-ESP project collected information about the health of 953 individuals with intellectual developmental disorders. RESULTS: Diseases such as urinary incontinence, oral problems, epilepsy, constipation or obesity were highly prevalent among the participants; with gender-differentiated prevalences for certain conditions, and age and intellectual disability level as risk factors for disease. Overmedication was common in the sample, and drugs were often prescribed without any clinical indication or follow-up. The present authors also found a lack of important relevant information about the participant's health and a lack of adequate genetic counselling. CONCLUSIONS: Our findings may contribute to a better understanding of health status and needs of people with intellectual developmental disorders and suggest several courses of action to improve their health care.


Assuntos
Prescrições de Medicamentos/estatística & dados numéricos , Indicadores Básicos de Saúde , Deficiência Intelectual , Uso Excessivo dos Serviços de Saúde/estatística & dados numéricos , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Adolescente , Adulto , Idoso , Comorbidade , Feminino , Disparidades nos Níveis de Saúde , Humanos , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/fisiopatologia , Deficiência Intelectual/terapia , Masculino , Pessoa de Meia-Idade , Fatores Sexuais , Espanha/epidemiologia , Adulto Jovem
6.
Can J Psychiatry ; 63(1): 12-19, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-28595494

RESUMO

OBJECTIVE: To contribute to a better differential clinical categorisation of delusional disorder (DD) versus schizophrenia (SZ) and to add and complete evidence from previous clinical studies of DD compared to schizophrenia. METHODS: A cross-sectional study using a clinical sample of 275 patients (132 patients with DD) was studied. Patients were consecutively attending public clinics located in urban and rural areas in both Andalusia and Catalonia (Spain). All participants met DSM-IV diagnostic criteria for either DD or SZ. Data were gathered on sociodemographics, illness duration, Barona-Index estimation of intelligence quotient (IQ), and global functioning, along with a thorough psychopathological assessment using the Positive and Negative Syndrome Scale (PANSS). Comparisons between both groups were calculated using χ2, Student t, and multivariate analysis of covariance tests. RESULTS: Patients with DD were older (mean [SD], 50.3 [14.6] years vs. 36.6 [11.1] years; t = 8.597; P ≤ 0.0001), were more frequently married (45.4% vs. 10.8%; χ2 = 38.569; P ≤ 0.0001), and had a higher mean estimated premorbid IQ (111.4 vs. 105.4; t = 2.609; P ≤ 0.01). On the other hand, SZ patients were predominantly male (71.4% vs. 48.9%; χ2 = 14.433; P ≤ 0.0001) and had greater work-related disability than DD patients (20.5% vs. 50.3%; χ2 = 19.564; P ≤ 0.001). Overall, the DD group showed a less severe PANSS psychopathology than SZ group. Thus, total mean (SD) PANSS scores for schizophrenia and delusional disorder, respectively, were 76.2 (22.4) versus 54.1 (18.4) ( t = -8.762; P ≤ 0.0001). Moreover, patients with DD showed a better global functioning than those with SZ (62.7 [13.2] vs. 51.9 [16.9]; F = 44.114; P ≤ 0.0001). CONCLUSIONS: DD is a milder and distinct disorder compared to SZ in terms of psychopathology and global functionality.


Assuntos
Esquizofrenia Paranoide/epidemiologia , Esquizofrenia Paranoide/fisiopatologia , Esquizofrenia/epidemiologia , Esquizofrenia/fisiopatologia , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Espanha/epidemiologia , Adulto Jovem
7.
Salud Publica Mex ; 59(4): 408-415, 2017.
Artigo em Espanhol | MEDLINE | ID: mdl-29211261

RESUMO

OBJECTIVE: People with intellectual developmental disorders (IDD) have worse health statuses in comparison with general population. The objective of this paper is to compare access and hospital morbimortality in people with IDD and general population. MATERIAL AND METHODS: We conducted a retrospective cross-sectional analytical study and analyzed data on admissions and discharges between IDD patients and the rest of them, in Ciudad Real, España. RESULTS: Out of 51 325 hospital admissions, 441 (0.9%) belonged to the group of persons with IDD. The IDD group had fewer programmed hospitalization than the general population and fewer surgical interventions. They presented more admissions for mental disorders and respiratory system diseases. CONCLUSIONS: The data presented confirm TDI population have different patterns of disease. Furthermore, this study reveal potential difficulties in access to health care in this population.


OBJETIVO: Las personas con trastornos del desarrollo intelectual (TDI) suelen presentar peor estado de salud que la población general. El objetivo de este estudio es evaluar el acceso y la morbimortalidad hospitalaria en los pacientes con TDI y compararla con la población general. MATERIAL Y MÉTODOS: Se realizó un estudio transversal retrospectivo y se compararon los datos de los ingresos y altas hospitalarias entre pacientes con TDI y sin dichos transtornos, en Ciudad Real, España. RESULTADOS: De un total de 51 325 altas, 441 (0.9%) correspondían a personas con TDI. Estas personas presentaban significativamente menos ingresos programados que la población general y menos intervenciones quirúrgicas y, a su vez, más ingresos debidos a enfermedades mentales y del sistema respiratorio. CONCLUSIONES: Las personas con TDI tienen patrones de morbilidad diferentes a los del resto de la población. Además este estudio revela posibles dificultades en el acceso a la atención sanitaria en estas personas.


Assuntos
Hospitalização/estatística & dados numéricos , Pacientes Internados/estatística & dados numéricos , Deficiência Intelectual/epidemiologia , Morbidade , Pessoas com Deficiência Mental/estatística & dados numéricos , Adolescente , Adulto , Idoso , Comorbidade , Estudos Transversais , Feminino , Indicadores Básicos de Saúde , Humanos , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Admissão do Paciente/estatística & dados numéricos , Alta do Paciente/estatística & dados numéricos , Estudos Retrospectivos , Fatores Socioeconômicos , Adulto Jovem
8.
Salud Publica Mex ; 59(4): 400-407, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29211260

RESUMO

OBJECTIVE: To better understand the health profiles of people with intellectual disability (ID), focusing on the variables that are associated with a poorer health status. MATERIALS AND METHODS: Data were collected from the Survey on Disability, Personal Autonomy and Dependency (EDAD 2008) of the Spanish National Statistics Institute (INE). The health data of 2840 subjects with IDD were analyzed in order to verify the impact of different variables on their health profiles. RESULTS: People with severe and profound levels of IDD presented a higher number of medical diagnoses. At residence centers there was a larger proportion of individuals with a higher prevalence of chronic diseases and more severe conditions; age also was an important factor. CONCLUSION: The health profiles of individuals with IDD differ depending on the severity level of their IDD and their degree of institutionalization. Further research is needed to provide better health care for people with IDD.


Assuntos
Nível de Saúde , Deficiência Intelectual/epidemiologia , Pessoas com Deficiência Mental/estatística & dados numéricos , Atividades Cotidianas , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Doença Crônica/epidemiologia , Comorbidade , Feminino , Inquéritos Epidemiológicos , Habitação , Humanos , Institucionalização/estatística & dados numéricos , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Prevalência , Índice de Gravidade de Doença , Adulto Jovem
9.
Salud Publica Mex ; 59(4): 454-461, 2017.
Artigo em Espanhol | MEDLINE | ID: mdl-29211267

RESUMO

Recent literature indicates that people with Disorders of Intellectual Development (DID) experience health disparities in the pathologies that they present, and a worst access to health care. However, current evidence-based knowledge is still sparse outside the Anglo-Saxon countries. The POMONA-I and POMONA-II European projects aimed to collect information on the health status of people with DID in Europe. The POMONA-ESP project in Spain is meant to collect health information in a wide and representative sample of persons with DID. Also, there are studies that claim for the need of specialized services for people with DID at the public health system. There are also studies about the current state of the education and training about DID for students within the health sector. In this paper we review the latest evidences about the health of the persons with DID and we present the main research activities and care initiatives about this issue.


Resumen: La literatura reciente indica que las personas con trastornos del desarrollo intelectual (TDI) presentan diferencias respecto de la población general en cuanto a la prevalencia de determinadas enfermedades y a la atención sanitaria que reciben. El conocimiento actual con base en la evidencia es aún muy escaso en países no anglosajones. Los proyectos europeos POMONA-I y POMONA-II tenían el objetivo de recoger información sobre el estado de salud de las personas con TDI en Europa. Actualmente, el proyecto POMONA-ESP en España pretende recoger dicha información en una muestra amplia y representativa de personas con TDI. También se están llevando a cabo otros estudios sobre la necesidad de contar con servicios especializados y sobre la formación que reciben los profesionales sanitarios sobre TDI. En este artículo se revisan las últimas evidencias sobre la salud de las personas con TDI y se exponen las principales actividades de investigación y asistencia sanitaria sobre este tema.


Assuntos
Inquéritos Epidemiológicos , Deficiência Intelectual/epidemiologia , Pessoas com Deficiência Mental/estatística & dados numéricos , Envelhecimento , Comorbidade , Europa (Continente)/epidemiologia , Serviços de Saúde , Humanos , Transtornos Mentais/epidemiologia , Saúde Bucal , Sobrepeso/epidemiologia , Prevalência , Saúde Reprodutiva , Espanha/epidemiologia
10.
Front Psychiatry ; 15: 1400621, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38807685

RESUMO

Background: Intellectual disability (ID) affects approximately 1% of the worldwide population and individuals with ID have a higher comorbidity with mental illness, and specifically psychotic disorders. Unfortunately, among individuals with ID, limited research has been conducted since ID individuals are usually excluded from mental illness epidemiological studies and clinical trials. Here we perform a clinical trial to investigate the effectiveness of clozapine in the treatment of resistant psychosis in individuals with ID. The article highlights the complexity of diagnosing and treating psychopathological alterations associated with ID and advocates for more rigorous research in this field. Methods: A Phase IIB, open-label, randomized, multicenter clinical trial (NCT04529226) is currently ongoing to assess the efficacy of oral clozapine in individuals diagnosed with ID and suffering from treatment-resistant psychosis. We aim to recruit one-hundred and fourteen individuals (N=114) with ID and resistant psychosis, who will be randomized to TAU (treatment as usual) and treatment-with-clozapine conditions. As secondary outcomes, changes in other clinical scales (PANSS and SANS) and the improvement in functionality, assessed through changes in the Euro-QoL-5D-5L were assessed. The main outcome variables will be analyzed using generalized linear mixed models (GLMM), assessing the effects of status variable (TAU vs. Clozapine), time, and the interaction between them. Discussion: The treatment of resistant psychosis among ID individuals must be directed by empirically supported research. CLOZAID clinical trial may provide relevant information about clinical guidelines to optimally treat adults with ID and treatment-resistant psychosis and the benefits and risks of an early use of clozapine in this underrepresented population in clinical trials. Trial registration: Clinicaltrials.gov: NCT04529226. EudraCT: 2020-000091-37.

11.
J Ment Health Policy Econ ; 16(3): 131-41, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24327483

RESUMO

BACKGROUND: Intellectual developmental disorder or Intellectual disability (ID) is a prevalent condition with a high impact along the life-span particularly when associated to other mental disorders (MD). SPECIFIC AIM: To estimate the unmet needs and to design a knowledge to action plan to reduce the care gap in ID-MD in Spain. METHOD: We followed a 5-step `maxi' impact assessment and a mixed qualitative/quantitative design including expert panels, secondary analysis of databases and a prospective survey in the 17 regions in Spain. Schizophrenia was used as comparator due to similar prevalence rates and burden. RESULTS: Persons with ID-MD had ten times less outpatient contacts and hospital admissions than patients with schizophrenia. The outpatient case load was 2.31% in ID and 14.6% in schizophrenia. ID had the lowest hospitalization rate amongst all mental disorders but the highest length of stay. The expert panel estimated that half of persons with ID-MD are not adequately assessed and 95% do not receive the required care in Spain. Basic care needs include 6.5 beds and an ID-MD outpatient service per 1 million population. At least 134 specialized psychiatrists and psychologists and 277 beds are needed to reach the minimum standards in Spain. CONCLUSION: This study quantifies the ID-MD care gap in Spain and the basic specialized services needed. In spite of the societal and health implications of ID-MD the knowledge-to-action plan had a modest impact limited at the regions where ID-MD programmes were already implemented. IMPLICATIONS FOR HEALTH POLICY: Specific priority setting on ID-MH should be incorporated to mental health strategy at the Ministry of Health within a broader health and ID plan. National and regional policies should incorporate an integrative care approach through the life cycle. The development of excellence centers on ID-MD and a national observatory on this topic should be encouraged.


Assuntos
Deficiência Intelectual/epidemiologia , Deficiência Intelectual/terapia , Transtornos Mentais/epidemiologia , Transtornos Mentais/terapia , Serviços de Saúde Mental/estatística & dados numéricos , Serviços de Saúde/estatística & dados numéricos , Disparidades em Assistência à Saúde , Humanos , Deficiência Intelectual/mortalidade , Tempo de Internação/estatística & dados numéricos , Expectativa de Vida , Transtornos Mentais/mortalidade , Prevalência , Índice de Gravidade de Doença , Espanha/epidemiologia
12.
Neurobiol Dis ; 47(1): 135-43, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22504536

RESUMO

The identification of mutations in genes encoding proteins of the synaptic neurexin-neuroligin pathway in different neurodevelopmental disorders, including autism and mental retardation, has suggested the presence of a shared underlying mechanism. A few mutations have been described so far and for most of them the biological consequences are unknown. To further explore the role of the NRXN1ß gene in neurodevelopmental disorders, we have sequenced the coding exons of the gene in 86 cases with autism and mental retardation and 200 controls and performed expression analysis of DNA variants identified in patients. We report the identification of four novel independent mutations that affect nearby positions in two regions of the gene/protein: i) sequences important for protein translation initiation, c.-3G>T within the Kozak sequence, and c.3G>T (p.Met1), at the initiation codon; and ii) the juxtamembrane region of the extracellular domain, p.Arg375Gln and p.Gly378Ser. These mutations cosegregate with different psychiatric disorders other than autism and mental retardation, such as psychosis and attention-deficit/hyperactivity disorder. We provide experimental evidence for the use of an alternative translation initiation codon for c.-3G>T and p.Met1 mutations and reduced synaptic levels of neurexin-1ß protein resulting from p.Met1 and p.Arg375Gln. The data reported here support a role for synaptic defects of neurexin-1ß in neurodevelopmental disorders.


Assuntos
Transtorno Autístico/genética , Deficiência Intelectual/genética , Transtornos Mentais/genética , Mutação , Proteínas do Tecido Nervoso/genética , Sinapses/metabolismo , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas do Tecido Nervoso/metabolismo
13.
Eur J Pain ; 26(1): 246-254, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34464481

RESUMO

BACKGROUND: Phantom limb pain (PLP) is a common problem after limb amputation. There is mounting evidence supporting the use of mirror therapy (MT) in the treatment of individuals with PLP. However, there is no research studying the effects of MT on PLP in individuals with intellectual developmental disorders (IDD). The aim of this study was to increase our understanding of MT when used with adults with IDD and PLP through a case study approach. METHODS: Here, we describe the use of MT with a 53-year-old female with moderate IDD and PLP, related to her left leg being amputated after ulcer complications. The study followed an A-B-A-B design (baseline-treatment-withdrawal of treatment-re-introduction of treatment), lasting 2 years, which included a long-term follow-up. RESULTS: The data showed that the PLP sensation decreased after the MT treatment, with a raw change of 3.92 points and a 48% decrease in mean pain intensity ratings from pre- to post-treatment. CONCLUSIONS: This is a unique case-report on the use of MT with an individual with IDD suffering from PLP. The findings show that MT helped to significantly reduce the intensity of the PLP in this patient. SIGNIFICANCE: This is a case-report that illustrates how mirror therapy can be applied to people with intellectual developmental disorders and phantom limb pain. The results showed that phantom limb pain decreased after the mirror therapy, with a raw change of 3,92 points and a percent change of 48%.


Assuntos
Deficiência Intelectual , Membro Fantasma , Adulto , Amputação Cirúrgica , Feminino , Humanos , Deficiência Intelectual/complicações , Pessoa de Meia-Idade , Terapia de Espelho de Movimento , Medição da Dor , Membro Fantasma/terapia
14.
Genes (Basel) ; 13(6)2022 06 18.
Artigo em Inglês | MEDLINE | ID: mdl-35741850

RESUMO

Schizophrenia is a heterogeneous and severe psychotic disorder. Epidemiological findings have suggested that the exposure to infectious agents such as Toxoplasma gondii (T. gondii) is associated with an increased risk for schizophrenia. On the other hand, there is evidence involving the catechol-O-methyltransferase (COMT) Val105/158Met polymorphism in the aetiology of schizophrenia since it alters the dopamine metabolism. A case−control study of 141 patients and 142 controls was conducted to analyse the polymorphism, the prevalence of anti-T. gondii IgG, and their interaction on the risk for schizophrenia. IgG were detected by ELISA, and genotyping was performed with TaqMan Real-Time PCR. Although no association was found between any COMT genotype and schizophrenia, we found a significant association between T. gondii seropositivity and the disorder (χ2 = 11.71; p-value < 0.001). Furthermore, the risk for schizophrenia conferred by T. gondii was modified by the COMT genotype, with those who had been exposed to the infection showing a different risk compared to that of nonexposed ones depending on the COMT genotype (χ2 for the interaction = 7.28, p-value = 0.007). This study provides evidence that the COMT genotype modifies the risk for schizophrenia conferred by T. gondii infection, with it being higher in those individuals with the Met/Met phenotype, intermediate in heterozygous, and lower in those with the Val/Val phenotype.


Assuntos
Catecol O-Metiltransferase , Esquizofrenia , Toxoplasmose , Estudos de Casos e Controles , Catecol O-Metiltransferase/genética , Humanos , Imunoglobulina G , Esquizofrenia/genética , Toxoplasma , Toxoplasmose/genética
15.
Soc Psychiatry Psychiatr Epidemiol ; 46(8): 685-93, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20490455

RESUMO

BACKGROUND: The effectiveness of psychosocial interventions in community mental healthcare has been shown to depend on the setting in which they are implemented. Recently structured patient-clinician communication was found to be effective in a multi-centre trial in six European countries, the DIALOG trial. In the overall study, differences between centres were controlled for, not studied. Here, we test whether the effectiveness of structured patient-clinician communication varies between services in different countries, and explore setting characteristics associated with outcome. METHODS: The study is part of the DIALOG trial, which included 507 patients with schizophrenia or related disorder, treated by 134 keyworkers. The keyworkers were allocated to intervention or treatment as usual. RESULTS: Positive effects were found on quality of life (effect size 0.20: 95% CI 0.01-0.39) and treatment satisfaction (0.27: 0.06-0.47) in all centres, but reductions in unmet needs for care were only seen in two centres (-0.83 and -0.60), and in positive, negative and general symptoms in one (-0.87, -0.78, -0.87). The intervention was most effective in settings with patient populations with many unmet needs for care and high symptom levels. CONCLUSIONS: Psychosocial interventions in community mental healthcare may not be assumed to have uniform effectiveness across settings. Differences in patient population served and mental healthcare provided, should be studied for their influence on the effectiveness of the intervention. Structured patient-clinician communication has a uniform effect on quality of life and treatment satisfaction, but on unmet needs for care and symptom levels its effect differs between mental healthcare settings.


Assuntos
Pesquisa Comparativa da Efetividade/estatística & dados numéricos , Entrevista Psicológica/métodos , Relações Médico-Paciente , Esquizofrenia/terapia , Adulto , Centros Comunitários de Saúde Mental , Feminino , Alemanha , Humanos , Entrevista Psicológica/normas , Londres , Masculino , Pessoa de Meia-Idade , Países Baixos , Satisfação do Paciente , Espanha , Suécia , Suíça , Resultado do Tratamento , Recursos Humanos
16.
Clin Nutr ; 39(2): 378-387, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-30962103

RESUMO

BACKGROUND & AIMS: Despite the wide spectrum of experimental compounds tested in clinical trials, there is still no proven pharmacological treatment available for Fragile-X syndrome (FXS), since several targeted clinical trials with high expectations of success have failed to demonstrate significant improvements. Here we tested epigallocatechin-3-gallate (EGCG) as a treatment option for ameliorating core cognitive and behavioral features in FXS. METHODS: We conducted preclinical studies in Fmr1 knockout mice (Fmr1-/y) using novel object-recognition memory paradigm upon acute EGCG (10 mg/kg) administration. Furthermore we conducted a double-blind placebo-controlled phase I clinical trial (TESXF; NCT01855971). Twenty-seven subjects with FXS (18-55 years) were administered of EGCG (5-7 mg/kg/day) combined with cognitive training (CT) during 3 months with 3 months of follow-up after treatment discontinuation. RESULTS: Preclinical studies showed an improvement in memory using the Novel Object Recognition paradigm. We found that FXS patients receiving EGCG + CT significantly improved cognition (visual episodic memory) and functional competence (ABAS II-Home Living skills) in everyday life compared to subjects receiving Placebo + CT. CONCLUSIONS: Phase 2 clinical trials in larger groups of subjects are necessary to establish the therapeutic potential of EGCG for the improvement of cognition and daily life competences in FXS.


Assuntos
Catequina/análogos & derivados , Transtornos Cognitivos/complicações , Transtornos Cognitivos/terapia , Síndrome do Cromossomo X Frágil/complicações , Síndrome do Cromossomo X Frágil/terapia , Fármacos Neuroprotetores/uso terapêutico , Adulto , Animais , Catequina/uso terapêutico , Transtornos Cognitivos/tratamento farmacológico , Modelos Animais de Doenças , Método Duplo-Cego , Feminino , Síndrome do Cromossomo X Frágil/tratamento farmacológico , Humanos , Masculino , Camundongos , Camundongos Knockout , Pessoa de Meia-Idade , Resultado do Tratamento , Adulto Jovem
17.
Soc Psychiatry Psychiatr Epidemiol ; 44(4): 317-24, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-18777143

RESUMO

BACKGROUND: Mental health interventions should demonstrate an effect on patients' functioning as well as his/her needs, in particular on unmet needs whose assessment depends on the perspective of either the patient or the clinician. However, individual met and unmet needs appear to change over time, qualitatively and quantitatively, raising questions about their sensitivity to change and about the association between level of needs and treatment. METHODS: Data on baseline and follow-up need assessment in community mental health services in four European countries in the context of a cluster randomised trial on a novel mental health service intervention were used, which involved 102 clinicians with key worker roles and 320 patients with schizophrenia or related psychotic disorders. Need assessment was performed with the Camberwell assessment of needs short appraisal schedule (CANSAS) among patients as well as clinicians. Focus is the sensitivity to change in unmet needs over time as well as the concordance between patient and clinician ratings and their relationship with treatment condition. RESULTS: At follow-up 294 patients (92%) had a full need assessment, while clinician rated needs were available for 302 patients (94%). Generally, the total number of met needs remained quite stable, but unmet needs decreased significantly over time, according to patients as well as to clinicians. Sensitivity to change of unmet needs is quite high: about two third of all unmet needs made a transition to no or met need, and more than half of all unmet needs at follow-up were new. Agreement between patient and clinician on unmet needs at baseline as well as follow-up was rather low, without any indication of a specific treatment effect. CONCLUSIONS: Individual unmet needs appear to be quite sensitive to change over time but as yet less suitable as outcome criterion of treatment or specific interventions.


Assuntos
Serviços Comunitários de Saúde Mental/normas , Eficiência Organizacional , Necessidades e Demandas de Serviços de Saúde , Adulto , Europa (Continente) , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Avaliação de Resultados em Cuidados de Saúde , Ensaios Clínicos Controlados Aleatórios como Assunto
18.
Psychiatr Serv ; 59(4): 421-8, 2008 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-18378842

RESUMO

OBJECTIVES: There is a demand for international comparisons of mental health care in Latin America. The purpose of this study was to describe mental health care in catchment health areas in Chile and Spain in order to complement information reported at the macro-level (countries or regions). METHODS: Availability and utilization of services for the adult population were assessed in two urban areas in Chile and in three urban areas in Spain by using the European Service Mapping Schedule (meso-level data). Indicators from a previous data envelopment analysis (DEA) model of basic community care were applied to this analysis. RESULTS: For the two countries, local data on beds and staff differed from data provided at the national level. In Chile meso-level data indicated more available beds and more psychologists per capita than did macro-level data. Quantitative indicators of community care were described, and the main gaps in Chile's urban areas were identified, particularly in day care and nonhospital residential care. There was nearly a tenfold difference in use of residential and day care between the benchmark area in Spain and the areas explored in Chile. In Chile's catchment areas there was no availability of nonacute hospital services, any work-related services for persons with mental disorders, or 24-hour mobile or nonmobile emergency psychiatric care. The meso-level data indicated that delivery and use of care in Chile was more similar to the pattern found in the poorer area in southern Spain than macro-level data would indicate. CONCLUSIONS: The European Service Mapping Schedule was useful for describing mental health care outside of Europe and allowed for an international comparison between Chile and Spain. The meso-level description gathered in this study adds to the macro-level information on the mental health care system that has been provided in other reports. The gap between mental health treatment needed and mental health treatment received in Chile may be lower than expected.


Assuntos
Transtornos Mentais/etnologia , Transtornos Mentais/terapia , Serviços de Saúde Mental/provisão & distribuição , Serviços de Saúde Mental/estatística & dados numéricos , Ambulâncias/estatística & dados numéricos , Área Programática de Saúde , Chile , Humanos , Serviços de Saúde Mental/organização & administração , Estudos Prospectivos , Psicologia , População Rural/estatística & dados numéricos , Fatores Socioeconômicos , Espanha , Inquéritos e Questionários , População Urbana/estatística & dados numéricos , Recursos Humanos
19.
Psychiatr Serv ; 59(5): 570-3, 2008 May.
Artigo em Inglês | MEDLINE | ID: mdl-18451020

RESUMO

OBJECTIVE: Although mental health reforms in the 20th century were characterized by deinstitutionalization, previous research suggested a new era of reinstitutionalization in six European countries between 1990 and 2002. This study aimed to establish whether there has been a trend in Europe toward more institutionalized care since 2002. METHODS: Primary data sources were used to collect data on conventional inpatient beds, involuntary hospital admissions, forensic beds, places in residential care and supervised and supported housing, and the prison population in nine countries: Austria, Denmark, England, Germany, Republic of Ireland, Italy, the Netherlands, Spain, and Switzerland. RESULTS: Between 2002 and 2006 the number of conventional psychiatric inpatient beds tended to fall and changes in involuntary admissions were inconsistent. The number of forensic beds, places in supervised and supported housing, and the prison population increased in most, but not all, of the countries studied. CONCLUSIONS: The findings suggest an ongoing although not consistent trend toward increasing provision of institutionalized mental health care across Europe.


Assuntos
Hospitais Psiquiátricos/organização & administração , Serviços de Saúde Mental/organização & administração , Europa (Continente)/epidemiologia , Humanos , Institucionalização/estatística & dados numéricos
20.
Curr Opin Psychiatry ; 31(2): 79-87, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29251670

RESUMO

PURPOSE OF REVIEW: To increase the expert knowledge-base on intellectual developmental disorders (IDDs) by investigating the typology trajectories of consensus formation in the classification systems up to the 11th edition of the International Classification of Diseases (ICD-11). This expert review combines an analysis of key recent literature and the revision of the consensus formation and contestation in the expert committees contributing to the classification systems since the 1950s. RECENT FINDINGS: Historically two main approaches have contributed to the development of this knowledge-base: a neurodevelopmental-clinical approach and a psychoeducational-social approach. These approaches show a complex interaction throughout the history of IDD and have had a diverse influence on its classification. Although in theory Diagnostic and Statistical Manual (DSM)-5 and ICD adhere to the neurodevelopmental-clinical model, the new definition in the ICD-11 follows a restrictive normality approach to intellectual quotient and to the measurement of adaptive behaviour. On the contrary DSM-5 is closer to the recommendations made by the WHO 'Working Group on Mental Retardation' for ICD-11 for an integrative approach. SUMMARY: A cyclical pattern of consensus formation has been identified in IDD. The revision of the three major classification systems in the last decade has increased the terminological and conceptual variability and the overall scientific contestation on IDD.


Assuntos
Deficiência Intelectual/classificação , Classificação Internacional de Doenças , Consenso , Manual Diagnóstico e Estatístico de Transtornos Mentais , Humanos , Bases de Conhecimento
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