Enhancing DLG2 Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances.

Neurodevelopmental disorders (NDDs) are considered synaptopathies, as they are due to anomalies in neuronal connectivity during development. DLG2 is a gene involved insynaptic function; the phenotypic effect of itsalterations in NDDs has been underestimated since few cases have been thoroughly described.We report on eight patients with 11q14.1 imbalances involving DLG2, underlining its potential effects on clinical presentation and its contribution to NDD comorbidity by accurate neuropsychiatric data collection. DLG2 is a very large gene in 11q14.1, extending over 2.172 Mb, with alternative splicing that gives rise to numerous isoforms differentially expressed in brain tissues. A thorough bioinformatic analysis of the altered transcripts was conducted for each patient. The different expression profiles of the isoforms of this gene and their influence on the excitatory-inhibitory balance in crucial brain structures could contribute to the phenotypic variability related to DLG2 alterations. Further studies on patients would be helpful to enrich clinical and neurodevelopmental findings and elucidate the molecular mechanisms subtended to NDDs.

Effect of long-acting injectable antipsychotics on emergency department visits and hospital admissions in people with bipolar disorder: A retrospective mirror-image analysis from the Northern Milan Area Cohort (NOMIAC) study.

BACKGROUND: Mood recurrences in bipolar disorder (BD) are often associated with poor treatment adherence. Despite long-acting injectable antipsychotics (LAIs) may favor treatment compliance, their use in BD is still poorly explored. METHODS: This mirror-image study investigated the effect of LAIs initiation on the number of emergency department (ED) visits and days of hospitalization, among individuals with BD from the mental health services of a large area of the Metropolitan City of Milan. The mirror periods were 365 days either side of the LAI initiation. Individual medical records were retrospectively reviewed. RESULTS: Sixty-eight individuals with BD initiating a LAI over the index period were included. We estimated that LAI initiation overall reduced both ED visits (p = 0.002) and days of hospitalization (p < 0.001). This remained true only for those participants who i) continued LAI for the entire 12-month period of observation and ii) were treated with a second-generation antipsychotic LAI. In addition, LAI initiation reduced number of hospitalization days during hypo/manic (p = 0.013), but not depressive (p = 0.641) episodes, as well as compulsory admission days (p = 0.002). LIMITATIONS: Due to the retrospective design, we could not collect systematic information on symptom severity and reasons of LAI discontinuation. Moreover, the limited sample size did not allow us to estimate effectiveness of single LAI agents. CONCLUSIONS: Our study provides additional insight on the effectiveness of LAIs in BD, supporting their clinical utility for pragmatic outcomes such as ED visits and hospitalizations. Further longitudinal research is needed to clarify the real-world effectiveness of LAIs for BD clinical management.

Automatic grasp imitation following action observation affects estimation of intrinsic object properties.

The present study aimed to determine whether the observation of different grasps of the same object elicits automatic imitation of the kinematics of those grasps and this process influences the estimation of intrinsic target properties. In experiments 1 and 2, participants reached and grasped differently sized spheres after observation of the same objects grasped using two different types of grasp (power and precision grasp) and hand kinematics. The observed grasp kinematics were imitated especially when the vision of the target and the acting hand were precluded. In experiments 3, 4 and 5 participants matched the diameter of the spheres, either perceived or imagined, by opening their thumb and index finger (i.e. the fingers used to grasp the objects) after observation of the two types of grasp. Finger opening was larger after observation of power grasp than precision grasp, consistently with the notion that power grasp and precision grasp are preferentially used to grasp large and small objects, respectively. However, the effect was poorly observed for the small object, this depending on the fact that the participants imitated also the final position of the thumb and index finger, which were closer to each other in the power grasp. Finally, those participants, for whom the effect was stronger, reported to have perceived more differently sized objects than those really presented. The results suggest that imitation evoked by a mirror system is involved in planning how to interact with an object and in the estimation of the properties extracted for sensory-motor integration.

How symbolic gestures and words interact with each other.

Previous repetitive Transcranial Magnetic Stimulation and neuroimaging studies showed that Broca's area is involved in the interaction between gestures and words. However, in these studies the nature of this interaction was not fully investigated; consequently, we addressed this issue in three behavioral experiments. When compared to the expression of one signal at a time, arm kinematics slowed down and voice parameters were amplified when congruent words plus gestures were simultaneously produced (experiment 1). When word and gesture were incongruent, arm kinematics did not change regardless of word category, whereas the gesture induced variation in vocal parameters of communicative and action words only (experiments 2 and 3). Data are discussed according to the hypothesis that integration between gesture and word occurs by transferring the social intention to interact directly with the interlocutor from the gesture to the word.

On the relations between affordance and representation of the agent's effector.

The present study aimed to determine whether the representation of object affordances requires specification of the effector potentially interacting with the object: specifically, in this study, vision of the interacting hand. In Experiment 1 we used an apparatus by which a fruit to be reached and grasped was identified by word reading, whereas another (interfering) fruit was visually perceived at the same location as the target. The apparatus allowed visual presentation of the agent's interacting hand or prevented it. When visually presented, the hand was perceived as still at the start position even when it moved to grasp the fruit. An interference effect on the grasp congruent with the distractor size was observed only when the hand was visible. In Experiment 2, interference was observed also when a hand different from the agent's own was visually presented. In both Experiments 1 and 2 the visible fruit interfered with the arm's reach, but the effect was independent of its size and less dependent on the visually-presented hand. A control experiment (Experiment 3) enabled comparison of the interference of visual stimuli on targets identified by word reading (Experiments 1 and 2) with that of objects identified by word reading on visually-presented targets (Experiment 3). The interference induced by visual stimuli was stronger than the interference induced by objects identified by words (i.e. affordances evoked by visual stimuli were stronger than affordances evoked by semantics). Taken together, the results of the present study suggest that the specification of the agent's effector is necessary for the elicitation of affordances. However, the elicitation of these affordances was observed for interactions between object and hand (grasp), rather than for interactions between object and arm (reach). Finally, our data confirm the influence of semantics on the control of arm movements, though less strong than that due to visual input.