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Objective: To define the clinical spectrum and etiology of progressive myoclonic epilepsies (PMEs) in Italy using a database developed by the Genetics Commission of the Italian League against Epilepsy. Methods: We collected clinical and laboratory data from patients referred to 25 Italian epilepsy centers regardless of whether a positive causative factor was identified. PMEs of undetermined origins were grouped using 2-step cluster analysis. Results: We collected clinical data from 204 patients, including 77 with a diagnosis of Unverricht-Lundborg disease and 37 with a diagnosis of Lafora body disease; 31 patients had PMEs due to rarer genetic causes, mainly neuronal ceroid lipofuscinoses. Two more patients had celiac disease. Despite extensive investigation, we found no definitive etiology for 57 patients. Cluster analysis indicated that these patients could be grouped into 2 clusters defined by age at disease onset, age at myoclonus onset, previous psychomotor delay, seizure characteristics, photosensitivity, associated signs other than those included in the cardinal definition of PME, and pathologic MRI findings. Conclusions: Information concerning the distribution of different genetic causes of PMEs may provide a framework for an updated diagnostic workup. Phenotypes of the patients with PME of undetermined cause varied widely. The presence of separate clusters suggests that novel forms of PME are yet to be clinically and genetically characterized.

Objective To determine whether the prescription of aripiprazole, compared with olanzapine and haloperidol, was associated with a lower frequency of metabolic syndrome (MS) and treatment discontinuation at 1 year. Method Patients were randomly assigned to be treated open-label and according to usual clinical practice with either aripiprazole, olanzapine, or haloperidol and followed up for 1 year. Results Three hundred out-patients with persistent schizophrenia were recruited in 35 mental health services. The intention-to-treat (ITT) analysis found no significant differences in the rate of MS between aripiprazole (37%), olanzapine (47%), and haloperidol (42%). Treatment discontinuation for any cause was higher for aripiprazole (52%) than for olanzapine (33%; OR, 0.41; P = 0.004), or haloperidol (37%; OR, 0.51; P = 0.030). No significant difference was found between olanzapine and haloperidol. Time to discontinuation for any cause was longer for olanzapine than for aripiprazole (HR, 0.55; P

Aims - This paper aims at presenting the most significant results emerging from the work carried out by the focus groups of the multi-centre Project SIEP-DIRECT'S. The Project is aimed at assessing the existing discrepancies between the evidence-based NICE guidelines for schizophrenia and the usual practices of care given by Italian mental health services. Each focus group was requested to give an evaluation on: a) appropriateness of the English NICE guidelines in the context of the Italian mental health services; b) clarity and usefulness of the 103 indicators developed on the basis of the NICE recommendations to measure their level of application within the services. Methods - In each of the 19 mental health departments or psychiatric services participating in the Project there were organized "multidisciplinary" focus groups and "specialistic" focus groups. The former included, amongst others, professional operators of the mental health services, patients, their relatives, representatives of patient organizations and general practitioners. They examined the recommendations and indicators upon which the participants could express their opinion or judgment based on their knowledge, experience or information in their possession. The latter group, composed only of psychiatrists, examined the recommendations and indicators relative to pharmacological treatments that regarded the specific competences of their professional category. Results - Most NICE recommendations seemed appropriate to the working context of the Italian services. However, some perplexity emerged as regards specific organizational models of the services, such as the specific services for psychotic onsets or the assertive outreach teams, which were believed not to be strictly pertinent to the traditional organization of mental health care in our Country. There were also some criticisms regarding the cognitive-behavioural treatments which the NICE Guidelines recommend as the principle psychotherapeutic option for patients with schizophrenia, since in many Italian services, when the use of psychological interventions are needed, the tendency is to prefer interventions based on psychodynamic theories. The SIEP indicators were generally held to be clear and acceptable. Conclusions - In the view of the focus groups, the NICE guidelines are on the whole useful and suitable for orientating the services in the choice of more efficacious practices in the treatment of patients with schizophrenia. Moreover, the results obtained legitimate the use of the set of SIEP indicators for the evaluation of good practices and the quality of care offered by Italian services. Finally, the use of focus groups delines to a different context as well as the verification of the comprehensibility and applicability of SIEP indicators

SUMMARYAims– To highlight the major discrepancies that emerged between evidence and routine practice in the framework of the SIEP-DIRECT's Project (DIscrepancy betweenRoutine practice andEvidence in psychiatricCommunityTreatments onSchizophrenia). The Project was conducted in 19 Italian mental health services (MHS), with the aims of: a) evaluating the appropriateness of the NICE Guidelines for Schizophrenia in the Italian context, b) developing and testing a set of 103 indicators that operationalised preferred clinical practice requirements according to the NICE Guidelines, and c) evaluating their actual application in Italian MHSs.Methods– The indicators investigated five different areas: common elements in all phases of schizophrenia; first episode treatment; crisis treatment; promoting recovery; the aggressive behaviour management.Results– The NICE recommendations examined were judged in most instances to be appropriate to the Italian MHS context, and the indicators fairly easy to use. The more severe and frequently encountered evidence-practice discrepancies were: lack of written material, guidelines, and information to be systematically provided to users; lack of intervention monitoring and evaluation; difficulty in implementingspecific and structured forms of intervention; difficulty in considering patients' family members as figures requiring targeted support themselves and who should also be regularly involved in the patient care process.Conclusions– The key actions to be undertaken to favour implementation of evidence-based routine practices are: focussing on mental illness onset and family support/involvement in care; planning training activities aimed at achieving specific treatment goals; encouraging MHS participation in evaluation activities; identifying thresholds for guideline application and promoting specific guideline implementation actions; and activating decision making and resource allocationprocesses that rely more strictly on evidence and epidemiological assessment. These considerations are of value for rethinking the model of community psychiatry in Italy as well as in other countries.Declaration of Interest: None.

OBJECTIVE: In this study we present data from a research carried out on a population of people with gambling disorder (GD).SUBJECTS AND METHODS: This research investigated the representation of family styles for subjects with gambling disorder, using the Family Adaptability and Cohesion Evaluation Scale (FACES-IV), their cognitive distortions through Gambling Related Cognitions Scale (GRCS-I), and the relation between these two dimensions.RESULTS: People with GD represent families with emotional detachment, while in the area of management of relational rules and roles, they reveal a perception of disorganization. Concerning their cognitive bias. GD people show the illusion of being able to control and predict the winnings and the perception of being unable to quit playing.CONCLUSIONS: Overall, these data provide specific directions for both the prevention and the therapeutic treatment of GD, highlighting the importance of a family therapeutic approach for the prevention of cognitive distortions.