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Objective: To investigate the temporal course of medication response and associated prognostic factors in a cohort of juvenile myoclonic epilepsy (JME) patients over a long‐term follow‐up. Materials and Methods: Data from 113 JME patients diagnosed according to recently proposed class II criteria were retrospectively reviewed. Early sustained remission was defined as 4‐year seizure remission starting within 2 years from the first antiseizure medication (ASM) intake, as opposed to delayed sustained remission. Spontaneous relapse rate (ie, not related to ASM withdrawal) was also investigated, along with factors associated with seizure relapse. Results: Four‐year seizure remission was obtained by 76/113 (67.3%) subjects. Early sustained remission was achieved by 45/76 (59.2%) patients. Absence seizures were significantly associated with no‐remission at multivariable multinomial logistic regression analysis. Catamenial seizures and earlier age at epilepsy onset significantly predicted delayed sustained remission. Spontaneous seizure relapse after 4‐year remission occurred in 15.7% of patients with early sustained remission and in 35.5% of those with delayed sustained remission (p = 0.045). The most common concomitant factors for a spontaneous relapse were irregular lifestyle habits and pregnancy‐related switch from valproate to another ASM. Patients with a history of catamenial seizures were more likely to experience a spontaneous generalized tonic‐clonic seizure relapse after 4‐year remission at univariable analysis. Significance: Our data support the prognostic relevance of early medication response in JME patients. Furthermore, the prognostic significance of catamenial seizures and the impact of valproate switch on seizure relapse after a prolonged remission account for the challenging therapeutic management of women with childbearing potential. [ABSTRACT FROM AUTHOR]

Background 22q11.2 Deletion Syndrome (22q11DS) represents one of the most important genetic risk factors for schizophrenia (SCZ) and a reliable biological model to study endophenotypic characters of SCZ. The aim of the study was to investigate Social Cognition impairments in subjects with 22q11.2DS compared to a considerable sample of schizophrenic patients. Methods Forty-four individuals with 22q11.2DS (DEL) and 18 patients with 22q11.2DS and psychosis (DEL_SCZ) were enrolled; these groups were compared to 887 patients with schizophrenia (SCZ) and 780 healthy controls (HCs); the latter groups were recruited by the Italian Network for Research on Psychoses (NIRP) to which our Centre took part. Social cognition was evaluated through The Awareness of Social Inference Test (TASIT). A resampling procedure was employed to balance differences in samples size. Results All clinical groups (DEL; DEL_SCZ; and SCZ) showed worse performance on TASIT than HCs, except in Sincere scale. No differences between-clinical groups were found, except for Simple Sarcasm, Paradoxical Sarcasm and Enriched Sarcasm scales. Conclusions SC was impaired in individuals with 22q11.2DS regardless of psychotic symptomatology, similarly to people with SCZ. Therefore, SC deficits may represent potential endophenotypes of SCZ contributing to the vulnerability to psychosis. [ABSTRACT FROM AUTHOR]

Background 22q11.2 deletion syndrome (22q11.2DS) is considered as the genetic model of schizophrenia. However, its polymorphic nature has led researchers to further investigate its neuropsychiatric manifestations. Methods We enrolled 56 adults (38 men, 18 women) diagnosed with 22q11.2DS. All subjects were evaluated by a multidisciplinary team. The neuropsychiatric features were investigated by means of clinical and neurophysiological evaluation (video-EEG). Results Thirty per cent of our patients were left-handed. Fifty-eight percent had a low IQ, and 22 of 56 subjects had psychotic disorders (13 of 22 with schizophrenia). Eighteen patients reported at least one seizure in their lifetime, and ten were diagnosed with epilepsy; among them, seven had genetic generalised epilepsy (GGE), and five of seven showed features suggestive of juvenile myoclonic epilepsy (JME). Video-EEG recordings revealed generalised epileptiform abnormalities in 24 of 56 cases. Besides, only one patient with epilepsy had a cardiac malformation. Lastly, 31 of 56 subjects presented with parkinsonism, 16 of whom were taking neuroleptics. None of the 15 patients with parkinsonism not related to neuroleptic therapy was diagnosed with epilepsy, compared with 6 of those taking antipsychotics. Conclusions 22q11.2DS is characterised by left-handedness and neuropsychiatric features such as cognitive impairment, schizophrenia, epilepsy and parkinsonism. GGE, mostly the JME phenotype, is the predominant epilepsy type. The significant association between 22q11.2DS and parkinsonian features confirms these patients' genetic susceptibility to parkinsonism. Despite the lack of any conclusive evidence, our study suggests a possible relationship between the analysed clinical variables: (1) an inverse correlation between low IQ/psychosis/epilepsy and major cardiac diseases; (2) a direct association between psychosis and both mental delay and epilepsy; and (3) an inverse correlation between parkinsonism and epilepsy. [ABSTRACT FROM AUTHOR]

Objective: Valproate (VPA) use in women with idiopathic generalized epilepsy (IGE) who are of reproductive age has been a matter of concern and debate, which eventually led to the recent restrictions by regulatory agencies. The aim of our study was to investigate the relationship between VPA avoidance/switch and seizure outcome in women of childbearing potential. Methods: We retrospectively reviewed data from female patients with IGE, 13‐50 years of age, followed since 1980. We evaluated the prescription habits, and the rate of VPA switch for other antiepileptic drugs (AEDs) and its prognostic implications. Seizure remission (SR) was defined as the absence of any seizure type more than 18 months before the last medical observation. The main aim of the study was to assess (a) possible changes in seizure outcome related to VPA switch for other AEDs, especially in patients planning a pregnancy; and (b) possible differences in SR based on the presence/absence of VPA at last observation. Results: One hundred ninety‐eight patients were included in the study. Overall SR at last medical observation was 62.7%. SR significantly differed between subjects taking and those not taking VPA (P <.001) at last visit. Multiple regression models showed that taking VPA at last medical observation was strongly associated with SR in both the general population (P <.001) and the juvenile myoclonic epilepsy (JME) group (P <.001). Thirty‐six (70.6%) of 51 patients who switched from VPA during follow‐up experienced a clinical worsening. Switching back to VPA was more frequently associated with SR at last observation (P <.001). In those patients who substituted VPA in view of a pregnancy, SR and drug burden (monotherapy vs polytherapy) differed significantly before and after the switch. Significance: Our study suggests that VPA avoidance/switch might be associated with unsatisfactory seizure control in women with IGE who are of childbearing potential. Our findings further highlight the complexity of the therapeutic management of female patients of reproductive age. [ABSTRACT FROM AUTHOR]

The article presents a case study of 23-year-old man who was affected by structural focal epilepsy and history of seizures started at the age of 10 and impairment of consciousness, followed by headache. Topics discussed include disturbance in brain functions and Magnetic Resonance Imagine (MRI) of brain which showed multiple cavernomas.

Purpose.Celiac disease (CD) is an immuno-mediated small bowel disease characterized by chronic inflammation due to a permanent intolerance to gliadin. Several neurological complications have been described, including epilepsy, whose evolution might often improve by adopting gluten-free diet (GFD). We studied a population of adult patients affected by posterior drug-resistant epilepsy of unknown cause by performing an accurate screening for CD. In the selected patients presenting the association of epilepsy and CD, we characterized the related electro-clinical features.Materials and Methods. We consecutively identified 211 adult subjects affected by drug-resistant cryptogenic focal epilepsy with posterior seizures. All these patients underwent serological screening for CD. In 10 subjects positive serological tests allowed to perform a CD diagnosis (confirmed by duodenal biopsy). For each patient clinical and EEG data, neuroimaging studies, serological and histological findings were revised, as well as response to GFD, defined as an improvement in seizure outcome.Results.A significant delay between diagnosis of epilepsy and CD was documented. Visual ictal manifestations were reported in half of subjects. In all cases, interictal EEG showed slow and epileptiform abnormalities over parietal-occipital and temporal regions; in three cases, FOS phenomenon was observed. Four patients had familiar history of CD and six cases showed clinical signs/symptoms of malabsorption. GFD led to a reduction of seizure frequency in half of patients.Conclusions. “Posterior” ictal semiology, peculiar EEG patterns and drug-resistance emerge as the most interesting characteristics. CD screening should be performed in epilepsy patients presenting such features. [ABSTRACT FROM AUTHOR]

We report an adult with acute unilateral pain as isolated manifestation of acute symptomatic focal non-convulsive status epilepticus. Pain is rarely a manifestation of epileptic seizures. Traditionally, painful seizures have been thought to originate in either the parietal or temporal lobes, but their localising value is debatable. Recent functional neuroimaging studies and electrophysiological findings obtained by using intracerebral recordings have shown the involvement of the insular cortex along with several other brain structures in the processing of painful inputs, comprising a more widespread anatomo-functional network. Despite their rarity as a distinct clinical entity, especially in adults, painful somatosensory seizures can be disabling and misdiagnosis or delayed diagnosis is common; it is therefore essential to consider epilepsy as a possible cause of paroxysmal pain to ensure proper assessment and appropriate treatment. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to evaluate the efficacy and safety of intravenous valproate (i.v. VPA) as first-line treatment of status epilepticus (SE) and seizure clusters in selected patient populations. Methods: We enrolled 23 patients (11 females and 12 males; mean age: 61 years) with SE who received i.v. VPA as first-line therapy (25 mg/kg in 100 mL saline infused over 15 min). ECG tracing was monitored before, during, and after infusion. Liver function and serum ammonia tests were conducted after 24 and 72 h of treatment. We evaluate the response of SE to i.v. therapy and short-term outcome. Results: In 15 out of 23 patients (65%), i.v. VPA was effective. In our population, we retrospectively identified three different subgroups: patients with cardiorespiratory comorbidities discouraging the use of traditional SE first-line drugs, patients with specific epileptic subsyndromes (such as idiopathic generalized epilepsy), and patients affected by psycho-organic syndromes. No significant adverse effects were detected. Discussion: Our study shows the clinical relevance of i.v. VPA as first-line therapy of SE in patients with medical conditions contraindicating the use of traditional first-line antiepileptic drugs for SE, and in those presenting with specific forms of SE. [ABSTRACT FROM AUTHOR]

Background: 22q11DS is the most common microdeletion with an incidence of 1:4000 live births. It is considered a genetic biological model for psychosis vulnerability: 25–28% of 22q11DS adults is affected by a psychotic disorder. Few data are available regarding functioning in 22q11DS. Our aim was to test the hypothesis that functioning is similar in 22q11DS psychotic and non-psychotic patients, and idiopathic schizophrenic subjects. We expected also a correlation between negative symptoms and functioning. Methods: Data come from Italian Network for Research on Psychoses for the Schizophrenic (SCZ, N=252) and Control groups (HC, N=110). 22q11DS psychotic (22q11DS_SCZ, N=21) and non-psychotic patients (22q11DS, N=23) were enrolled at Policlinico Umberto I, in Rome. The SLOF scale (Specific Levels of Functioning) and the Brief Negative Symptom Scale interview (BNSS) were employed. Results: The Global Functioning was significantly different between all groups but not between 22q11DS groups and SCZ. The multivariate analysis of variance showed the higher effect size for the Interpersonal Functioning, in which differences resulted significant between all groups, except for the comparison between 22q11DS-SCZ and SCZ. Differences between groups in BNSS were significant except for the post-hoc 22q11DSSCZ vs SCZ. Global and Interpersonal Functioning showed a significant negative correlation with BNSS scores in the three clinical groups. Discussion: 22q11DS-SCZ showed a severe deficit in Interpersonal Functioning, similar to that of idiopathic schizophrenia. 22q11DS showed a deficit in Interpersonal Functioning respect to control group, but less severe than psychotic groups. Our data suggest a common impairment shared among the clinical groups, that may be the functional correlate of an underlying neurobiological mechanism. [ABSTRACT FROM AUTHOR]

Background: 22q11DS is the most important genetic risk factor for schizophrenia: up to 28% of these subjects develop psychosis in adulthood. At present this syndrome represents the strongest biological model to investigate neurobiological underpinnings of schizophrenia. We expected Theory of Mind impairments in subjects at risk for psychosis (22q11DS) and more severe impairments in subjects with an established psychotic disorder. Furthermore we sought to investigate eventual correlations between social cognition and self-esteem levels, hypothesizing that both would be impaired in psychotic groups. Methods: Data come from Italian Network for Research on Psychoses for the Schizophrenic (SCZ, N=260) and Control groups (HC, N=111). 22q11DS psychotic (22q11DS_SCZ, N=17) and non-psychotic patients (22q11DS, N=46) were enrolled at Policlinico Umberto I, in Rome. The Awareness and Social Inference Test (TASIT) and Self-Esteem Rating Scale (SERS) were administered. Results: The three main TASIT variables, Emotion Recognition, Minimal Social Inference and Enriched Social Inference, showed no different scores between the three clinical groups, which were significantly lower respect to the control group. The SERS total score showed no significant differences between clinical groups but was for all three significantly lower than control group score. No significant correlation was observed between SERS and TASIT scores for clinical groups. Discussion: Social Cognition impairments are present in 22q11DS at the same extent as in idiopathic schizophrenia, and thus they represent an endophenotype of psychosis. A  low Self-Esteem, even though associated to psychosis, does not affect neurocognitive process, impaired on a neurobiological basis. [ABSTRACT FROM AUTHOR]

Background: The 22q11.2 Deletion Syndrome (22q11.2DS) is considered the most reliable biological model to study genetic vulnerability to schizophrenia. It appears useful to investigate neuroanatomical characteristics of people with 22q11.2DS compared to chronic schizophrenia and healthy controls., Methods: The sample consisted of 16 individuals with a diagnosis of schizophrenia for over 10 years (SCZ>10), 14 with a diagnosis for less than 10 years (SCZ≤10), 11 patients with 22q11.2DS with no diagnosis of psychotic disorder (DEL, n=11) and 19 healthy controls (HCs, n=19). Global intelligence (IQ) was evaluated for all subjects. Voxel-Based Morphometry (VBM) was employed to investigate potential differences between groups in grey matter volumes., Results: VBM located the most significant difference between SCZ and HCs in the left medial frontal gyrus, where SCZ>10 group showed a significant reduction of grey matter volume; the same cluster resulted significantly decreased in DEL group compared to HCs as well. Despite the extensive grey matter abnormalities observed in 22q11.2DS, the DEL group showed the only significant differences compared to the SCZ>10 group in the right lingual gyrus volumes., Conclusions: Despite the small sample, our study identified a common area of grey matter loss both in idiopathic schizophrenia and 22q11.2DS.