Deep brain stimulation for severe dystonia associated with Wilson disease: A prospective multicenter meta-analysis of an N-of-1 trial.

Background And Purpose: Disabling dystonia despite optimal medical treatment is common in Wilson disease (WD). No controlled study has evaluated the effect of deep brain stimulation (DBS) on dystonia related to WD. This study was undertaken to evaluate the efficacy of DBS on dystonia related to WD.

The Time Course of Information Processing During Eye Direction Perception.

Gaze directed at the observer (direct gaze) is a highly salient social signal. Despite the existence of a preferential orientation toward direct gaze, none of the studies carried out so far seem to have explicitly studied the time course of information processing during gaze direction judgment. In an eye direction judgment task, participants were presented with a sketch of a face.

Current and future applications of light-sheet imaging for identifying molecular and developmental processes in autism spectrum disorders.

Autism spectrum disorder (ASD) is identified by a set of neurodevelopmental divergences that typically affect the social communication domain. ASD is also characterized by heterogeneous cognitive impairments and is associated with cooccurring physical and medical conditions. As behaviors emerge as the brain matures, it is particularly essential to identify any gaps in neurodevelopmental trajectories during early perinatal life.

A new scale for the screening of childhood early psychotic symptoms.

This study aimed to develop a new scale, the Early Psychotic Symptoms screening scale (EPSy), to assess the prodromes of psychotic symptoms in children aged 4 to 13 years. Two versions were proposed: one to assess the child's current behavior and one to assess the child's behavior when he/she was 2 years old. The second aim of this study was to investigate the presence of these symptoms at the age of 2 years and their evolution up to the child's current age.

A new neurodevelopmental disorder linked to heterozygous variants in UNC79.

Purpose: The "NALCN channelosome" is an ion channel complex that consists of multiple proteins, including NALCN, UNC79, UNC80, and FAM155A. Only a small number of individuals with a neurodevelopmental syndrome have been reported with disease causing variants in NALCN and UNC80. However, no pathogenic UNC79 variants have been reported, and in vivo function of UNC79 in humans is largely unknown.

An optimized iDISCO+ protocol for tissue clearing and 3D analysis of oxytocin and vasopressin cell network in the developing mouse brain.

Here, we present an optimized iDISCO+ protocol combining tissue clearing and light sheet microscopy to map the postnatal development of oxytocin and vasopressin neurons in mouse hypothalamus. We describe tissue preparation, immunostaining, clearing, and imaging. We then detail how to process the 3D cell dataset to analyze cell network using a point-based recording procedure that accurately maps neurons in the Allen brain atlas.

Actionable Predictive Factors of Homelessness in a Psychiatric Population: Results from the REHABase Cohort Using a Machine Learning Approach.

Background: There is a lack of knowledge regarding the actionable key predictive factors of homelessness in psychiatric populations. Therefore, we used a machine learning model to explore the REHABase database (for rehabilitation database- = 3416), which is a cohort of users referred to French psychosocial rehabilitation centers in France.

Methods: First, we analyzed whether the different risk factors previously associated with homelessness in mental health were also significant risk factors in the REHABase.

Gender differences in psychosocial function and self-reported health status in late-diagnosed autistic adults: results from the FACE-ASD national cohort.

Background: While adult outcome in autism spectrum disorder (ASD) is generally measured using socially valued roles, it could also be understood in terms of aspects related to health status - an approach that could inform on potential gender differences.

Methods: We investigated gender differences in two aspects of outcome related to health-status, i.e.

Dissociation of early and late face-related processes in autism spectrum disorder and Williams syndrome.

Background: Williams syndrome (WS) and Autism Spectrum Disorders (ASD) are neurodevelopmental conditions associated with atypical but opposite face-to-face interactions patterns: WS patients overly stare at others, ASD individuals escape eye contact. Whether these behaviors result from dissociable visual processes within the occipito-temporal pathways is unknown. Using high-density electroencephalography, multivariate signal processing algorithms and a protocol designed to identify and extract evoked activities sensitive to facial cues, we investigated how WS (N = 14), ASD (N = 14) and neurotypical subjects (N = 14) decode the information content of a face stimulus.

A 1-Day Training Course to Disseminate the BREF Psychoeducational Program to Caregivers and Promote Network Establishment between Psychiatry Departments and Family Associations.

Objective: Although international guidelines state that psychoeducation to caregivers should be provided systematically, it remains insufficiently available in psychiatry. This study reports the development and evaluation of an original training course aimed to provide participants with the knowledge and skills to implement "BREF," a psychoeducational program for caregivers.

Methods: The BREF program training course, a free, 1-day course incorporating peer role-play was developed.

Differential fate between oxytocin and vasopressin cells in the developing mouse brain.

Oxytocin (OXT) and arginine vasopressin (AVP), two neuropeptides involved in socio-emotional behaviors have been anatomically defined in the adult brain. Yet their spatial organization during postnatal development is not clearly defined. We built a developmental atlas using 3D imaging of cleared immunolabeled tissue over four early postnatal (P) stages, from birth (P0, P3, P7, P14) to young adulthood (≥P56).

Emotional Modulation of Episodic Memory in School-Age Children and Adults: An Event-Related Potential Study.

The Emotional Enhancement of Memory (EEM) has been well-demonstrated in adults, but less is known about EEM in children. The present study tested the impact of emotional valence of pictures on episodic memory using behavioral and neurophysiological measures. Twenty-six 8- to 11-year-old children were tested and compared to 30 young adults.

Emotional modulation of episodic memory in children and adolescents with Williams-Beuren syndrome.

Children and adolescents with Williams-Beuren syndrome (WBS) have been described as having specific memory abilities and emotional reactivity. Although it is well established in the literature that emotion can enhance memory, no such studies have been undertaken in individuals with WBS. In three experiments, the present study tested whether the negative or positive emotional valence of stimuli can influence verbal, visual and visuo-spatial memory by specifically evaluating two memory components: item and associative memory.

Eye Direction Detection and Perception as Premises of a Social Brain: A Narrative Review of Behavioral and Neural Data.

The eyes and the gaze are important stimuli for social interaction in humans. Impaired recognition of facial identity, facial emotions, and inference of the intentions of others may result from difficulties in extracting information relevant to the eye region, mainly the direction of gaze. Therefore, a review of these data is of interest.

Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review.

Background: Pathogenic variants of the AUTS2 (Autism Susceptibility candidate 2) gene predispose to intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, facial dysmorphism and short stature. This phenotype is therefore associated with neurocognitive disturbances and social cognition, indicating potential functional maladjustment in the affected subjects, and a potentially significant impact on quality of life. Although many isolated cases have been reported in the literature, to date no families have been described.

Sex Differences in Recovery-Related Outcomes and Needs for Psychiatric Rehabilitation in People With Schizophrenia Spectrum Disorder.

Background: Female sex/gender has been associated with better longitudinal outcomes in schizophrenia spectrum disorders (SSDs). Few studies have investigated the relationships between female gender and recovery-related outcomes. Women's specific psychiatric rehabilitation needs remain largely unknown.

The spatial distribution of eye movements predicts the (false) recognition of emotional facial expressions.

Recognizing facial expressions of emotions is a fundamental ability for adaptation to the social environment. To date, it remains unclear whether the spatial distribution of eye movements predicts accurate recognition or, on the contrary, confusion in the recognition of facial emotions. In the present study, we asked participants to recognize facial emotions while monitoring their gaze behavior using eye-tracking technology.

Face first impression of trustworthiness in Williams Syndrome: Dissociating automatic vs decision based perception.

Humans make rapid decisions of trustworthiness based on facial appearance. Williams Syndrome (WS) is a genetic disorder associated with hypersociability toward strangers, suggesting a disruption in trust assessment. We recorded eye-movements in neurotypically-developed (TD) participants (N = 21) and in patients with WS (N = 22) as we presented pairs of computer-generated faces, pre-rated as trustworthy or untrustworthy.

Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report.

Background: The role of deleterious copy number variations in schizophrenia is well established while data regarding pathogenic variations remain scarce. We report for the first time a case of schizophrenia in a child with a pathogenic mutation of the chromodomain helicase DNA binding protein 2 (CHD2) gene.

Case Presentation: The proband was the second child of unrelated parents.

[Twenty years of on-site clinical genetics consultations for people with ASD].

Despite advances in neurogenetics of autism spectrum disorders (ASD), many patients fail to be systematically investigated, owing to preconceived ideas, limited access to genetics facilities and inadequacy of consultations to children with behavioural problems. To improve access to services, we reversed the paradigm and delivered on-site genetics consultations to ASD children of Greater Paris day care hospitals and specialized institutions. Since 1998, an ambulatory medical genetics team has been in operation, offering on-site consultations and services to patients and relatives in their usual environment.