Validez y fiabilidad del inventario polidiagnóstico para trastornos psicóticos OPCRIT 4.0 adaptado al español.

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.

Toxoplasma gondii Seropositivity Interacts with Catechol-O-methyltransferase Val105/158Met Variation Increasing the Risk of Schizophrenia.

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.

Mirror therapy for phantom limb pain in moderate intellectual disability. A case report.

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%.

A phase 1, randomized double-blind, placebo controlled trial to evaluate safety and efficacy of epigallocatechin-3-gallate and cognitive training in adults with Fragile X syndrome.

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.

Association of Borderline Intellectual Functioning and Adverse Childhood Experience with adult psychiatric morbidity. Findings from a British birth cohort.

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.

Health indicators in intellectual developmental disorders: The key findings of the POMONA-ESP project.

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.

The POMONA-ESP project methodology: Collecting data on health indicators for people with intellectual developmental disorders.

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.

Genetic and clinical evidence of mitochondrial dysfunction in autism spectrum disorder and intellectual disability.

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.

The road to 11th edition of the International Classification of Diseases: trajectories of scientific consensus and contested science in the classification of intellectual disability/intellectual developmental disorders.

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.

Psychometric Properties of Spanish Adaptation of the PDD-MRS Scale in Adults with Intellectual Developmental Disorders: The EVTEA-DI Scale.

Strategies for the early detection of autism spectrum disorders (ASD) in people with intellectual developmental disorder (IDD) are urgently needed, but few specific tools have been developed. The present study examines the psychometric properties of the EVTEA-DI, a Spanish adaptation of the PDD-MRS, in a large randomized sample of 979 adults with IDD. Factorial solution analysis suggested a three-factor solution (stereotyped behavior, communication, and social behavior). The EVTEA-DI showed good reliability and convergent validity when compared to the Childhood Autism Rating Scale. Discriminative validity analysis resulted in an acceptable global sensitivity of 70% and a high specificity of 90%. The EVTEA-DI proved to be a valid screening tool in ASD assessment of the adult Spanish population with IDD.

A Psychopathological Comparison between Delusional Disorder and Schizophrenia.

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.

Health profiles in people with intellectual developmental disorders.

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.

[Hospital admissions and morbidity in people with intellectual developmental disorders]. / Acceso y morbilidad hospitalaria en personas con trastornos del desarrollo intelectual.

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.

[New considerations on the health of the persons with intellectual developmental disorders]. / Nuevas consideraciones sobre la salud de las personas con trastornos del desarrollo intelectual.

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.

Health profiles in people with intellectual developmental disorders / Perfiles de salud en personas con trastornos del desarrollo intelectual

Abstract: 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.

Resumen: Objetivo: Conocer los perfiles de salud de las personas con discapacidad intelectual (DI), incidiendo en las variables que se relacionan con un peor estado de salud. Material y métodos: Se han empleado datos procedentes de la Encuesta sobre Discapacidades, Autonomía personal y situaciones de Dependencia (EDAD 2008) del Instituto Nacional de Estadística (INE). Se han comparado los datos de salud de 2840 sujetos con discapacidad intelectual para analizar las diferencias en sus perfiles de salud. Resultados: En los centros residenciales hay una mayor proporción de personas con DI profunda y severa, de edad más avanzada y con mayor prevalencia de enfermedades crónicas. Las personas con niveles más graves de DI presentan un mayor número de diagnósticos de enfermedades. Conclusión: Los perfiles de salud de las personas con DI difieren en función de su grado de institucionalización y su nivel de DI. Es necesario seguir investigando para ofrecer una mejor atención sanitaria a las personas con DI.

Nuevas consideraciones sobre la salud de las personas con trastornos del desarrollo intelectual / New considerations on the health of the persons with intellectual developmental disorders

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.

Abstract: 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.

Acceso y morbilidad hospitalaria en personas con trastornos del desarrollo intelectual / Hospital admissions and morbidity in people with intellectual developmental disorders

Resumen: 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.

Abstract: 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.

Training on intellectual disability in health sciences: the European perspective.

BACKGROUND: Intellectual disability (ID) has consequences at all stages of life, requires high service provision and leads to high health and societal costs. However, ID is largely disregarded as a health issue by national and international organisations, as are training in ID and in the health aspects of ID at every level of the education system. SPECIFIC AIM: This paper aims to (1) update the current information about availability of training and education in ID and related health issues in Europe with a particular focus in mental health; and (2) to identify opportunities arising from the initial process of educational harmonization in Europe to include ID contents in health sciences curricula and professional training. METHOD: We carried out a systematic search of scientific databases and websites, as well as policy and research reports from the European Commission, European Council and WHO. Furthermore, we contacted key international organisations related to health education and/or ID in Europe, as well as other regional institutions. RESULTS: ID modules and contents are minimal in the revised health sciences curricula and publications on ID training in Europe are equally scarce. European countries report few undergraduate and graduate training modules in ID, even in key specialties such as paediatrics. Within the health sector, ID programmes focus mainly on psychiatry and psychology. CONCLUSION: The poor availability of ID training in health sciences is a matter of concern. However, the current European policy on training provides an opportunity to promote ID in the curricula of programmes at all levels. This strategy should address all professionals working in ID and it should increase the focus on ID relative to other developmental disorders at all stages of life.