Midbrain–hindbrain malformations in patients with malformations of cortical development and epilepsy: A series of 220 patients

SummaryMidbrain–hindbrain malformations (MHM) may coexist with malformations of cortical development (MCD). This study represents a first attempt to investigate the spectrum of MHM in a large series of patients with MCD and epilepsy. We aimed to explore specific associations between MCD and MHM and to compare two groups of patients: MCD with MHM (wMHM) and MCD without MHM (w/oMHM) with regard to clinical and imaging features.Two hundred and twenty patients (116 women/104 men, median age 28 years, interquartile range 20–44 years at the time of assessment) with MCD and epilepsy were identified at the Departments of Neurology and Pediatrics, Innsbruck Medical University, Austria. All underwent high-resolution MRIs (1.5-T) between 01.01.2002 and 31.12.2011. Midbrain–hindbrain structures were visually assessed by three independent raters.MHM were seen in 17% (38/220) of patients. The rate of patients wMHM and w/oMHM differed significantly (p=0.004) in three categories of MCD (category I – to abnormal neuronal proliferation; category II – to abnormal neuronal migration; and category III – due to abnormal neuronal late migration/organization): MCD due to abnormal neuronal migration (31%) and organization (23%) were more commonly associated with MHM compared to those with MCD due to abnormal neuronal proliferation (9%). Extensive bilateral MCD were seen more often in patients wMHM compared to those w/oMHM (63% vs. 36%; p=0.004). In wMHM group compared to w/oMHM group there were higher rates of callosal dysgenesis (26% vs. 4%; p<0.001) and hippocampal abnormalities (52% vs. 27%; p<0.001). Patients wMHM were younger (median 25 years vs. 30 years; p=0.010) at the time of assessment and had seizure onset at an earlier age (median 5 years vs. 12 years; p=0.043) compared to those w/oMHM. Patients wMHM had higher rates of learning disability (71% vs. 38%; p<0.001), delayed developmental milestones (68% vs. 35%; p<0.001) and neurological deficits (66% vs. 47%; p=0.049) compared to those w/oMHM.The groups (wMHM and w/oMHM) did not differ in their response to antiepileptic treatment, seizure outcome, seizure types, EEG abnormalities and rate of status epilepticus. Presence of MHM in patients with MCD and epilepsy is associated with severe morphological and clinical phenotypes

Bilateral mesial temporal polymicrogyria: a case report

Polymicrogyria is a malformation of cortical organisation morphologically marked by an irregular brain surface with multiple excessively folded small gyri. Cortical thickness is reduced but appears increased in some areas as a result of the fusion of small gyri. On magnetic resonance imaging polymicrogyria is delineated by an abnormal gyral pattern, increased cortical thickness and irregularity of the cortical–white matter junction

Violence from childhood to adulthood: The influence of child victimization and domestic violence on physical health in later life

OBJECTIVE: Previous research has shown a detrimental effect of child victimization (CV) on physical disease and mortality. Additionally, individuals with adverse experiences in childhood frequently face domestic violence (DV) in later life. As DV has also been observed to harm physical health, a potential cumulative effect has been proposed. Currently, however, only limited data on such a cumulative effect and its impact on patients' physical health are available. METHODS: A cross-sectional observational study at the University Hospital of Innsbruck was conducted. Data on CV, DV and physical health were collected using self-report questionnaires. To evaluate the impact of CV and DV on patients' health, odds ratios (OR) were calculated using binary logistic regression. RESULTS: A total of 1480 patients from various departments participated in the study. CV was found for 38% and DV for 16% of participants. A significantly higher occurrence of physical disease was observed in patients with poly-victimization (4+ CVs). When accounting for the cumulative effect of CV and DV, the occurrence was further increased for musculoskeletal disorders (OR:5.1), chronic pain (OR:5.0), gastrointestinal diseases (OR:3.0), metabolic diseases (OR:2.8) and respiratory diseases (OR:2.4). CONCLUSION: CV and DV were found to be prevalent and highly correlated in patients treated in a primary care hospital. CV and DV - individually, combined and cumulatively - may thus present risks for physical health. Screening patients for the risk of DV as well as assessing CV may aid in early identification and initiation of psychosocial interventions to avoid further aggravation of physical and psychological problems

Diagnosis and Treatment of Paroxysmal Dyskinesias Revisited

Paroxysmal dyskinesias (PDs) are a rare group of hyperkinetic movement disorders mainly characterized by their episodic nature. Neurological examination may be entirely normal between the attacks. Three main types of PDs can be distinguished based on their precipitating events - (i) paroxysmal kinesigenic dyskinesias (PKD), (ii) paroxysmal non-kinesigenic dyskinesias (PNKD) and (iii) paroxysmal exercise-induced (exertion-induced) dyskinesias (PED). The diagnosis of PDs is based on their clinical presentation and precipitating events. Substantial progress has been made in the field of genetics and PDs. Treatment options mainly include anticonvulsants and benefit of treatment is depending on the type of PD. Most important differential diagnosis are non-epileptic psychogenic, non-epileptic organic and epileptic attack disorders, especially nocturnal frontal lobe epilepsy

Risky Decision Making in Juvenile Myoclonic Epilepsy

It is not known whether patients with juvenile myoclonic epilepsy (JME) differ from healthy people in decision making under risk, i.e., when the decision-making context offers explicit information about options, probabilities, and consequences already from the beginning. In this study, we adopted the Game of Dice Task-Double to investigate decision making under risk in a group of 36 patients with JME (mean age 25.25/SD 5.29 years) and a group of 38 healthy controls (mean age 26.03/SD 4.84 years). Participants also underwent a comprehensive neuropsychological assessment focused on frontal executive functions. Significant group differences were found in tests of psychomotor speed and divided attention, with the patients scoring lower than the controls. Importantly, patients made risky decisions more frequently than controls. In the patient group, poor decision making was associated with poor executive control, poor response inhibition, and a short interval since the last seizure episode. Executive control and response inhibition could predict 42% of variance in the frequency of risky decisions. This study indicates that patients with JME with poorer executive functions are more likely to make risky decisions than healthy controls. Decision making under risk is of major importance in every-day life, especially with regard to treatment decisions and adherence to long-term medical therapy. Since even a single disadvantageous decision may have long-lasting consequences, this finding is of high relevance

The ILAE definition of drug resistant epilepsy and its clinical applicability compared with “older” established definitions

Background. Early identification of potential epilepsy surgery candidates is essential to the treatment process