Background and Aims:

Juvenile myoclonic epilepsy (JME) and Unverricht-Lundborg disease (ULD) are distinct entities, but they share several clinical features. In ULD, the most common mutation is a dodecamer repeat of cystatin B (CSTB) gene on chromosome 21q22.3^1-2. We reported a JME phenotype in an Italian family with ULD.

Methods:

A 30-year-old man presented one generalized tonic-clonic seizure (GTC), myoclonic jerks on awakening at 13 years of age. He is seizure-free under valproate, carrying a clinical diagnosis of JME. His 37-year-old sister developed action myoclonus, GTCs, photosensitivity, ataxia, at age of 12 years, exhibiting a phenotype of ULD. She is treated by clonazepam, valproate, levetiracetam and perampanel. There was no cognitive impairment. The parents were consanguineous. An extensive clinical, laboratory and genetic investigation with screening for mutations in CSTB gene was performed in the two patients and their parents.

Results:

EEG-polygraphic recording revealed generalized spike and waves (GSWs), photo-paroxysmal-response (PPR), with no myoclonus, in proband; GSWs, PPR, involuntary, stimulus and action activated myoclonic jerks in his sister. Both patients exhibited giant SSEPs and C-reflex bilaterally, normal brain 3T MRI and a similar (60 to 68) homozygous dodecamer expansions in CSTB gene. Their parents showed unremarkable clinical and EEG evaluations.

Conclusions:

The exceptionality of a high functioning ULD patient of age 30 emphasizes the mild end of phenotypic spectrum of CSTB mutations, the phenotypic heterogeneity of ULD and of similar size of CSTB dodecamer expansions. The screening of the CSTB gene should be considered in patients with JME and evidence of recessive transmission.

Background and Aims:

Pediatric arterial ischemic stroke (AIS) has different etiologies compared with adults. Strokes in children are rarer, but not less serious. We discuss three different cases of AIS.

Methods:

Case 1. A 15-year-old patient was admitted with new onset refractory status epilepticus (NORSE). Brain MRI showed left cortical and lenticulostriatal ischemic stroke and angiogram showed focal irregularity of left middle cerebral artery (MCA). Vessel wall MRI sequences displayed diffuse thickening of right MCA wall (figure A), up to the terminal branches, leading to diagnosis of focal cerebral arteriopathy (FCA). Steroids and aspirin were started, but NORSE required 12 days of sedation. Case 2. A 12-year-old child experienced acute right hemiparesis and aphasia, due to left basal ganglia ischemia, detected by MRI. The patient was successfully treated by systemic thrombolysis. Cerebral angiography showed left MCA duplication and M1 branch occlusion caused by probable dissection (figure B), not treated by mechanical thrombectomy because of high risk of complications. Case 3. A 5-year-old child with autistic spectrum disorder presented with right frontal ischemic stroke. Cerebral angiogram showed very poor right cortical perfusion (figure C), with smoke like effect of the vertebral territory, due to collaterals. A diagnosis of moyamoya syndrome was made and the patient underwent surgical revascularization.

Results:

Figure A.

Figure B.

Figure C.

Conclusions:

Diagnosis of pediatric AIS are often delayed, because of many different chameleons. Compared with CT scan, brain MRI should be preferred in acute phase, adding peculiar sequences, as vessel wall that could guide diagnosis and treatment, as fibrinolysis or mechanical thrombectomy.

Background and Aims:

Sensorimotor systems, involved in experiences, are recruited in attributing meaning to words, configuring the so-called embodied cognition. We aim to assess whether the processing of graspable objects and their nouns is impaired in patients with mesial temporal lobe epilepsy (MTLE).

Methods:

Fifteen controls and 14 matched MTLE patients, of which 5 had hippocampal sclerosis (HS), performed 3T-MRI and neuropsychological examination. Forty Italian nouns and 40 digital color photos concerning natural objects as well as 40 pseudoword and 40 distorted images were used as stimuli. Twenty nouns and 20 photos were referred to natural graspable objects, while the remaining to non-graspable ones. Subjects had to respond exclusively whether the stimulus concerned a real object. The mean value of reaction times (RTs) and error numbers were calculated for each Object Graspability and Stimulus Type combination.

Results:

In the controls, the slower RTs were recorded for stimuli related to graspable objects (nouns: 597±109ms; photos: 616±98ms) compared to non-graspable ones (nouns: 574±108ms; photos: 557±111ms). MRI-negative MTLE group had RTs like controls for nouns (graspable: 504±79ms; non-graspable: 476±72ms) and photos (graspable: 569±93ms; non-graspable: 491±68ms). Instead, HS-MTLE patients showed faster RTs for nouns referred to graspable objects (470±53ms) compared to those non-graspable (500±54ms) and photos’ stimuli (graspable: 546±46ms; non-graspable: 510±99ms). The mean error number was greater in the HS-MTLE group (8.6±10.3) compared to MRI-negative MTLE one (2.4±1.6).

Conclusions:

HS-MTLE patients did not show the slower RTs related to graspable objects expressed by nouns with less accurate responses, indicating a dysfunction in embodied cognition mediated by frontoparietal sensorimotor systems.

Background and Aims:

To assess quality of life (QoL) in adult people with epilepsy (PWE) and identify the main factors affecting it.

Methods:

We enrolled consecutively 122 PWE. They were interviewed for a careful collection of demographic and clinical data. Patients completed dedicated questionnaires for the assessment of the quality of life (Quality of Life in Epilepsy Scale-31)(Q31) as well as psychosocial features: depressive symptoms (DS)(Beck Depression Inventory-II/BDI-II), difficulties of emotion regulation (Difficulties of Emotion Regulation Scale/DERS), stigma related to epilepsy (Stigma Scale of Epilepsy/SSE and Jacoby's Stigma Scale/JSS). The results of Q31 and their subscales were correlated with clinical details of PWE, as well as the other scores. A stepwise multiple regression analysis was applied to identify the main factors affecting QoL.

Results:

Quality of life is inversely correlated mostly with psychosocial features, as DS, emotion dysregulation and stigma perception, as well as with epilepsy-related factors, as the seizure frequency and number of antiseizure medications (ASMs). The combination of DS, perceived stigma and number of ASMs best explained the QoL. Worse features of QoL were detected in females and in patients with age of epilepsy onset in adulthood.

Conclusions:

Quality of life in adult PWE is predominantly affected by psychosocial factors more than epilepsy-related ones. These findings suggest that effective epilepsy management requires more than seizure control, early detection of psychological dysfunction and tailored interventions to improve the QoL should be considered.

Background and Aims:

Temporal lobe epilepsy (TLE) is the most common form of focal epilepsy in adulthood. Temporal lobe plays a central role in the regulation of cardio-autonomic functions (CAF) which can be also influenced by several anti-seizure therapies. The spectral analysis of the Heart Rate Variability (HRV) represents a useful tool for the evaluation of CAF. The aim of this study is to assess, using the spectral analysis of HRV, new anti-seizure medication (ASMs) - Perampanel (PER), Lacosamide (LCS), Eslicarbazepine (ECB) and Brivaracetam (BRV) - effects on CAF in patients with TLE.

Methods:

Eighty patients with diagnosis of TLE were enrolled. According to the specific new add-on anti-seizure therapy, patients were divided into 4 subgroups: PER (20 patients), LCS (20 patients), BRV (20 patients) and ECB (20 patients). Each patient underwent a 20-minute EEG + EKG recording in resting state before and after the introduction of the new ASM. HRV evaluation was performed by a short-lasting analysis with a specific software (Kubios®). Time-domain and frequency-domain parameters were compared between groups.

Results:

PER showed a significant reduction in low frequency (LF) and an increase in high frequency (HF) with a reduction in the low frequency/high frequency ratio (LF/HF). BRV and LCS showed an increased LF and a reduction in HF with a slight increase in the LF/HF ratio. ECB showed an increased LF and a reduction in HF with a reduction in the LF/HF ratio.

Conclusions:

Our study demonstrates that the use of PER, compared to other new ASMs, provide the safest modification of cardio-autonomic profile.

Background and Aims:

Post-stroke epilepsy (PSE) is one of the most frequent aetiology of symptomatic epilepsy. So far, there is little evidence about the variables associated with seizure control in PSE. This study evaluated the predictors of pharmaco-resistance in patients with PSE.

Methods:

Adult patients with PSE were retrospectively identified and data on seizure occurrence were collected from medical records. The primary endpoint was the development of pharmaco-resistance defined as the failure of adequate trials of two tolerated and appropriately chosen and used antiseizure medication schedules to achieve seizure freedom.

Results:

One-hundred and fifty-nine patients with PSE were analyzed. The mean age of the patients at the time of stroke was 57 (15) years. Pharmaco-resistance occurred in 18.2% of the participants. Younger age at stroke onset (p<0.05), history of intracerebral hemorrhage (p<0.05), focal to bilateral tonic-clonic seizures (p<0.03), stroke severity (p<0.01), and status epilepticus as initial presentation of PSE (p<0.01) were independently associated with treatment refractoriness.

Conclusions:

Age at stroke onset, stroke type and severity, seizure types and status epilepticus occurrence were independent predictors of pharmaco-resistance in patients with PSE.

Background and Aims:

SARS-CoV-2 pandemic heavily hit the western healthcare system rapidly saturating the hospital beds in wards and clogging the emergency departments. To avoid the collapse of Italian hospitals, office visits to outpatients were limited. Physicians had to approach new problems in the management of chronic patients who could not leave their homes. We explored the utility of telemedicine in the setting of lockdown in the evaluation of clinical stability of people of epilepsy and in assessing risk factors coming from the isolation that could worse seizure control.

Methods:

During the lockdown period our epilepsy clinic managed 38 outpatients with epilepsy via telemedicine. In addition to the standard clinical evaluation, we administered to our patients 3 validated questionnaires testing sleep quality, daily sleepiness, and stress level (PSQI, ESS, and K6) and we collected data about daily habits during the lockdown.

Results:

We found that sleep quality was low (PSQI > 5) in 60% of patients and 37 % of the study population had high stress levels with pathological K6. We found a strong association between those two items (p<0,001). Secondly, we found an increase in daily screen hours in comparison with a non-lockdown state and an association with elevated daily sleepiness estimated with ESS (p = 0,030).

Conclusions:

We report our experience in managing people with epilepsy during the lockdown, underlining the utility of telemedicine as a valid monitoring tool and the necessity of a psychometric and behavioral screening in patients with epilepsy during lockdowns.