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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.

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.

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.

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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%. [ABSTRACT FROM AUTHOR]

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. 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. 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. 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. Image 1 [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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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. [ABSTRACT FROM AUTHOR]

Impairment of language abilities is a common feature in autistic individuals. Heterozygous mutations in the Forkhead Box P2 (FOXP2) gene lead to a severe spoken language disorder. Recently, several studies have pinpointed the involvement of common variants of the Contactin-Associated Protein-Like 2 (CNTNAP2) gene, whose transcription is regulated by the product of FOXP2, in several disorders characterized by language impairments such as autism, specific language impairment (SLI), and selective mutism (SM). In the present study, common variants of the FOXP2 and the CNTNAP2 genes were analyzed through a case-control association study in 322 Spanish autistic patients and 524 controls. The results of this study suggest that common variants of FOXP2 are unlikely to contribute to autism susceptibility, in agreement with previous findings. Furthermore, we failed to replicate in our sample a previous association finding of two single nucleotide polymorphisms (rs2710102 and rs7794745) in the CNTNAP2 gene with autism. No evidence for the association of these genes with language traits was observed in our analysis. [ABSTRACT FROM AUTHOR]

Abstract: 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 NRXN1β 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-1β protein resulting from p.Met1 and p.Arg375Gln. The data reported here support a role for synaptic defects of neurexin-1β in neurodevelopmental disorders. [Copyright &y& Elsevier]

Introduction: The Borderline Intellectual Functioning (BIF) is conceptualized as the frontier that delimits "normal" intellectual functioning from intellectual disability (IQ 71-85). In spite of its magnitude, its prevalence cannot be quantified and its diagnosis has not yet been defined., Objectives: To elaborate a conceptual framework and to establish consensus guidelines., Method: A mixed qualitative methodology, including frame analysis and nominal groups techniques, was used. The literature was extensively reviewed in evidence based medical databases, scientific publications, and the grey literature. This information was studied and a framing document was prepared., Results: Scientific publications covering BIF are scarce. The term that yields a bigger number of results is "Borderline Intelligence". The Working Group detected a number of areas in which consensus was needed and wrote a consensus document covering the conclusions of the experts and the framing document., Conclusions: It is a priority to reach an international consensus about the BIF construct and its operative criteria, as well as to develop specific tools for screening and diagnosis. It is also necessary to define criteria that enable its incidence and prevalence. To know what interventions are the most efficient, and what are the needs of this population, is vital to implement an integral model of care centred on the individual., (Copyright © 2011 SEP y SEPB. Published by Elsevier Espana. All rights reserved.)

Introduction: The risk of schizophrenia conferred by cannabis has recently been proposed to be modulated by the Val158Met polymorphism (rs4680) at the COMT gene. To date, these findings have not been replicated in independent samples., Material and Methods: We tested the potential gene-by-environment interaction between Val158Met genotype at the COMT gene and previous use of cannabis in schizophrenia in 192 healthy controls and 91 inpatients with DSM-IV schizophrenia. The functional COMT Val158Met polymorphism was analyzed using TaqMan technology. Cannabis use was measured by taking into account the frequency of intake during the previous month. Logistic regression models were used to test the interaction between genetic and environment factors., Results: Cannabis use was strongly associated with the case condition (p<0.0001). The Val158Met polymorphism at the COMT gene was not associated with schizophrenia, although Val/Val homozygosity tended to be more frequent in the case group than in the control group (34% vs 27%; OR=1.39; 95% CI, 0.78-2.47). Finally, in women we found a non-significant trend toward the association when we tested for the interaction between cannabis use, the number of Val alleles and susceptibility to schizophrenia (p=0.152)., Conclusions: Our results tend to support recent findings suggesting that the Val158Met polymorphism at the COMT gene modifies the risk of schizophrenia conferred by cannabis use. In our study, this possible effect was only detected in women., (Copyright © 2009 Sociedad Española de Psiquiatría and Sociedad Española de Psiquiatría Biológica. Published by Elsevier Espana. All rights reserved.)