SYNGAP1 encephalopathy:A distinctive generalized developmental and epileptic encephalopathy

Objective To delineate the epileptology, a key part of the SYNGAP1 phenotypic spectrum, in a large patient cohort. Methods Patients were recruited via investigators' practices or social media. We included patients with (likely) pathogenic SYNGAP1 variants or chromosome 6p21.32 microdeletions incorporating SYNGAP1. We analyzed patients' phenotypes using a standardized epilepsy questionnaire, medical records, EEG, MRI, and seizure videos. Results We included 57 patients (53% male, median age 8 years) with SYNGAP1 mutations (n = 53) or microdeletions (n = 4). Of the 57 patients, 56 had epilepsy: generalized in 55, with focal seizures in 7 and infantile spasms in 1. Median seizure onset age was 2 years. A novel type of drop attack was identified comprising eyelid myoclonia evolving to a myoclonic-atonic (n = 5) or atonic (n = 8) seizure. Seizure types included eyelid myoclonia with absences (65%), myoclonic seizures (34%), atypical (20%) and typical (18%) absences, and atonic seizures (14%), triggered by eating in 25%. Developmental delay preceded seizure onset in 54 of 56 (96%) patients for whom early developmental history was available. Developmental plateauing or regression occurred with seizures in 56 in the context of a developmental and epileptic encephalopathy (DEE). Fifty-five of 57 patients had intellectual disability, which was moderate to severe in 50. Other common features included behavioral problems (73%); high pain threshold (72%); eating problems, including oral aversion (68%); hypotonia (67%); sleeping problems (62%); autism spectrum disorder (54%); and ataxia or gait abnormalities (51%). Conclusions SYNGAP1 mutations cause a generalized DEE with a distinctive syndrome combining epilepsy with eyelid myoclonia with absences and myoclonic-atonic seizures, as well as a predilection to seizures triggered by eating.</p

Predictive masking results from system-wide reconfiguration of neural population properties in the human visual cortex

MRI data (structural and functional

Testing the Skill-based Approach: Consolidation strategy impacts Attentional Blink performance

Data accompanying the journal article Testing the Skill-based Approach: Consolidation strategy impacts Attentional Blink performance published in PLOS ONE. It contains the datasets (without personal information) for both experiments and a small R file that can be used to read in the data

Recent life stress predicts blunted acute stress response and the role of executive control

The present study examined the associations between recent life stress and responses to acute psychological stress, and how these associations varied with executive control. Heart rate (HR), heart rate variability (HRV), salivary cortisol, and affective states were measured before, during and after the Trier Social Stress Test (TSST), an effective laboratory stressor, in 54 healthy participants, and executive control function was tested with a Go/No-Go task in a neutral context on a different day. The hierarchical multiple regression analysis showed that high frequency of life stress during the last twelve months predicted blunted cardiovascular acute stress response, i.e., smaller HR and HRV reactivity. Moreover, the low executive control group showed a significant association between higher recent life stress and blunted acute stress response, which was not apparent in the high executive control group. The results suggested that greater executive control may benefit us with adaptive acute stress response under recent life stress.HighlightsThe Trier Social Stress Test induces cardiovascular and cortisol responses.Higher life event frequency (LEF) predicts smaller cardiovascular stress response.Executive control plays a role in the link of LEF to stress response. The Trier Social Stress Test induces cardiovascular and cortisol responses. Higher life event frequency (LEF) predicts smaller cardiovascular stress response. Executive control plays a role in the link of LEF to stress response

Using natural viewing behavior to screen for and reconstruct visual field defects

There is a need for simple and effective ways to screen for visual field defects (VFD). Watching a movie is a simple task most humans are familiar with. Therefore we assessed whether it is possible to detect and reconstruct visual field defects based on free viewing eye movements, recorded while watching movie clips. Participants watched 90 movie clips of one minute, with and without simulated visual field defects (sVFD), while their eye movements were tracked. We simulated homonymous hemianopia (HH) (left and right sided) and glaucoma (small nasal arc, large nasal arc, and tunnel vision). We generated fixation density maps of the visual field and trained a linear support vector machine to predict the viewing conditions of each trial of each participant based on these maps. To reconstruct the visual field defect, we computed "viewing priority" maps and maps of differences in fixation density of the visual field of each participant. We were able to classify the simulated visual field condition with more than 85% accuracy. In simulated HH, the viewing priority distribution over the visual field indicated the location of the sVFD in the simulated HH condition. In simulated glaucoma the difference in fixation density to the control condition indicated the location of the sVFD. It is feasible to use natural viewing behavior to screen for and reconstruct (simulated) visual field defects. Movie clip viewing in combination with eye tracking may thus provide an alternative to or supplement standard automated perimetry, in particular in patients who cannot perform the latter technique

How Free-Viewing Eye Movements Can Be Used to Detect the Presence of Visual Field Defects in Glaucoma Patients

There is a need for more intuitive perimetric screening methods, which can also be performed by elderly people and children currently unable to perform standard automated perimetry (SAP). Ideally, these methods should also be easier to administer, such that they may be used outside of a regular clinical environment. We evaluated the suitability of various methodological and analytical approaches for detecting and localizing VFD in glaucoma patients, based on eye movement recordings