Visual working memory contents bias ambiguous structure from motion perception

The way we perceive the visual world depends crucially on the state of the observer. In the present study we show that what we are holding in working memory (WM) can bias the way we perceive ambiguous structure from motion stimuli. Holding in memory the percept of an unambiguously rotating sphere influenced the perceived direction of motion of an ambiguously rotating sphere presented shortly thereafter. In particular, we found a systematic difference between congruent dominance periods where the perceived direction of the ambiguous stimulus corresponded to the direction of the unambiguous one and incongruent dominance periods. Congruent dominance periods were more frequent when participants memorized the speed of the unambiguous sphere for delayed discrimination than when they performed an immediate judgment on a change in its speed. The analysis of dominance time-course showed that a sustained tendency to perceive the same direction of motion as the prior stimulus emerged only in the WM condition, whereas in the attention condition perceptual dominance dropped to chance levels at the end of the trial. The results are explained in terms of a direct involvement of early visual areas in the active representation of visual motion in WM

“I Wouldn’t Even Know What to Ask for”: Patients’ and Caregivers’ Experiences of Psychological Support for Huntington’s Disease in Italy

People with Huntington's disease (HD) often experience psychological difficulties linked with disease progression and the adjustment to living with a chronic condition, which are also frequently shared by their informal caregivers (e.g., partners). Although limited, the current literature on psychological care for people with HD shows that interventions have the potential to drive improvements in mental health and quality of life. However, the experience of accessing and receiving psychological support for HD remains unclear across several countries. This study adopted a qualitative design to explore the experiences of psychological support for HD from the perspectives of patients and caregivers living in Italy. Semi-structured interviews were carried out with 14 participants-7 patients with early-manifest HD and 7 partners acting as their caregivers. The resulting data were analysed through thematic analysis. Four overarching themes were identified: (1) the availability of psychological support for HD, (2) barriers to accessing psychological support, (3) enablers to accessing psychological support, and (4) the future development of public psychological provision for HD. In Italy, patients and caregivers perceive public psychological support for HD as unavailable or inadequate, and private therapy is often seen as unaffordable. Barriers such as distrust in public healthcare and preconceptions about therapy may limit access, while advice from HD organisations and seeking therapy for other reasons may act as enablers. A strong emphasis is put on the need for accessible public psychological support throughout all the stages of the condition

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

LNPK encodes a conserved membrane protein that stabilizes the junctions of the tubular endoplasmic reticulum network playing crucial roles in diverse biological functions. Recently, homozygous variants in LNPK were shown to cause a neurodevelopmental disorder (OMIM#618090) in four patients displaying developmental delay, epilepsy and nonspecific brain malformations including corpus callosum hypoplasia and variable impairment of cerebellum. We sought to delineate the molecular and phenotypic spectrum of LNPK-related disorder. Exome or genome sequencing was carried out in 11 families. Thorough clinical and neuroradiological evaluation was performed for all the affected individuals, including review of previously reported patients. We identified 12 distinct homozygous loss-of-function variants in 16 individuals presenting with moderate to profound developmental delay, cognitive impairment, regression, refractory epilepsy and a recognizable neuroimaging pattern consisting of corpus callosum hypoplasia and signal alterations of the forceps minor ('ear-of-the-lynx' sign), variably associated with substantia nigra signal alterations, mild brain atrophy, short midbrain and cerebellar hypoplasia/atrophy. In summary, we define the core phenotype of LNPK-related disorder and expand the list of neurological disorders presenting with the 'ear-of-the-lynx' sign suggesting a possible common underlying mechanism related to endoplasmic reticulum-phagy dysfunction

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.

LNPK encodes a conserved membrane protein that stabilizes the junctions of the tubular endoplasmic reticulum network playing crucial roles in diverse biological functions. Recently, homozygous variants in LNPK were shown to cause a neurodevelopmental disorder (OMIM#618090) in four patients displaying developmental delay, epilepsy and nonspecific brain malformations including corpus callosum hypoplasia and variable impairment of cerebellum. We sought to delineate the molecular and phenotypic spectrum of LNPK-related disorder. Exome or genome sequencing was carried out in 11 families. Thorough clinical and neuroradiological evaluation was performed for all the affected individuals, including review of previously reported patients. We identified 12 distinct homozygous loss-of-function variants in 16 individuals presenting with moderate to profound developmental delay, cognitive impairment, regression, refractory epilepsy and a recognizable neuroimaging pattern consisting of corpus callosum hypoplasia and signal alterations of the forceps minor ('ear-of-the-lynx' sign), variably associated with substantia nigra signal alterations, mild brain atrophy, short midbrain and cerebellar hypoplasia/atrophy. In summary, we define the core phenotype of LNPK-related disorder and expand the list of neurological disorders presenting with the 'ear-of-the-lynx' sign suggesting a possible common underlying mechanism related to endoplasmic reticulum-phagy dysfunction

When geometry constrains vision : systematic misperceptions within geometrical configurations

International audienceHow accurate are we in reproducing a point within a simple shape? This is the empirical question we addressed in this work. Participants were presented with a tiny disk embedded in an empty circle (Experiment 1 and 3) or in a square (Experiment 2). Shortly afterwards the disk vanished and they had to reproduce the previously seen disk position within the empty shape by means of the mouse cursor, as accurately as possible. Several loci inside each shape were tested. We found that the space delimited by a circle and by a square is not homogeneous and the observed distortion appears to be consistent across observers and specific for the two tested shapes. However, a common pattern can be identified when reproducing geometrical loci enclosed in a shape: errors are shifted toward the periphery in the region around the center and toward the center in the region nearby the edges. The error absolute value declines progressively as we approach an equilibrium contour line between the center and the outline of the shape where the error is null. These results suggest that enclosing an empty space within a shape imposes an organization to it and warps its metrics: not only the perceived loci inside a shape are not the same as the geometrical loci, but they are misperceived in a systematic way that is functional to the correct identification of the center of the shape. Eye movements recordings (Experiment 3) are consistent with this interpretation of the data

Repulsive Serial Effects in Visual Numerosity Judgments

We investigated how the approximate perceived numerosity of ensembles of visual elements is modulated by the numerosity of previously viewed ensembles depending on whether the first ensemble is held in visual working memory or not. We show that the numerosity of the previously seen ensemble has a repulsive effect, that is, a stimulus with high numerosity induces an underestimation of the following one and vice versa. This repulsive effect is present regardless of whether the first stimulus is memorized or not. While subtle changes of the experimental paradigm can have major consequences for the nature of interstimulus dependencies in perception, generally speaking the fact that we found such effects in a visual numerosity estimation task confirms that the process by which human observers produce estimates of the number of elements bears analogies to the processes that lead to the perception of visual dimensions such as orientation

The haptic and the visual flash-lag effect and the role of flash characteristics.

When a short flash occurs in spatial alignment with a moving object, the moving object is seen ahead the stationary one. Similar to this visual "flash-lag effect" (FLE) it has been recently observed for the haptic sense that participants judge a moving hand to be ahead a stationary hand when judged at the moment of a short vibration ("haptic flash") that is applied when the two hands are spatially aligned. We further investigated the haptic FLE. First, we compared participants' performance in two isosensory visual or haptic conditions, in which moving object and flash were presented only in a single modality (visual: sphere and short color change, haptic: hand and vibration), and two bisensory conditions, in which the moving object was presented in both modalities (hand aligned with visible sphere), but the flash was presented only visually or only haptically. The experiment aimed to disentangle contributions of the flash's and the objects' modalities to the FLEs in haptics versus vision. We observed a FLE when the flash was visually displayed, both when the moving object was visual and visuo-haptic. Because the position of a visual flash, but not of an analogue haptic flash, is misjudged relative to a same visuo-haptic moving object, the difference between visual and haptic conditions can be fully attributed to characteristics of the flash. The second experiment confirmed that a haptic FLE can be observed depending on flash characteristics: the FLE increases with decreasing intensity of the flash (slightly modulated by flash duration), which had been previously observed for vision. These findings underline the high relevance of flash characteristics in different senses, and thus fit well with the temporal-sampling framework, where the flash triggers a high-level, supra-modal process of position judgement, the time point of which further depends on the processing time of the flash