Chromosomal rearrangement in the 22q11.2 region: a critical locus for sociability and attentional skills.

Rearrangements of 22q11.2 region, most often deletions and duplications, are responsible for multiple congenital disorders. These rearrangements are involved in syndromes that share some phenotypic similarities. To date, 22q11.2 triplication remains very rare, with few cases described in the literature. Here, we report for the first time the clinical, neurocognitive, social cognition and psychiatric properties of a 6-year-old child with 22q11.2 triplication, in comparison with a patient with 22q11.2 duplication and 16 cases of patients with 22q11.2 deletion. Chromosomal region 22q11.2 seems to be a critical locus for sociability and attentional skills and rearrangements could be interpreted as a predisposing factor for the development of psychotic symptoms (22q11.2 deletion), a protective factor (22q11.2 duplication) or a tendency factor for hypersociability (22q11.2 triplication).

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. The analysis of EPSy identified three main factors, namely mistrust/paranoia, perceptual aberrations/hallucinations and disorganized symptoms. It has good psychometric properties. Data also shows that, independently of the participant's age, the total score on the 2-years-old version predicts the total score on the current-age version, and this is also the case for each individual factor. Finally, it is of clinical interest since it makes it possible to describe symptomatology both at age 2 and at the child's present age depending on the group to which the children are assigned (control children, psychotic children, non-psychotic children).

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. A temporal asynchrony was introduced between the presentation of the eyes and that of the rest of the face. Indeed, the face could be presented before the eyes, the eyes could be presented before the face, or the face and the eyes could be presented simultaneously. In a second time, the face direction was also manipulated. The results suggest that the time course of information processing during eye direction judgment follows a continuum that makes it possible to perceive the eyes first and then to use the facial context to judge the direction of gaze. Furthermore, the congruency between the direction of gaze and that of the face confirms this observation. Although these results are discussed in the light of existing theories about the mechanisms underlying gaze processing, our data provide new information suggesting that, despite their power to capture attention, the eyes probably have to stand out from a more general spatial configuration (i.e., the face) in order for their direction to be adequately processed.

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. Behavioral data demonstrating the importance of the eye region and how humans respond to gaze direction are reviewed narratively, and several theoretical models on how visual information on gaze is processed are discussed to propose a unified hypothesis. Several issues that have not yet been investigated are identified. The authors tentatively suggest experiments that might help progress research in this area. The neural aspects are subsequently reviewed to best describe the low-level and higher-level visual information processing stages in the targeted subcortical and cortical areas. A specific neural network is proposed on the basis of the literature. Various gray areas, such as the temporality of the processing of visual information, the question of salience priority, and the coordination between the two hemispheres, remain unclear and require further investigations. Finally, disordered gaze direction detection mechanisms and their consequences on social cognition and behavior are discussed as key deficiencies in several conditions, such as autism spectrum disorder, 22q11.2 deletion, schizophrenia, and social anxiety disorder. This narrative review provides significant additional data showing that the detection and perception of someone's gaze is an essential part of the development of our social brain.

What do error patterns in processing facial expressions, social interaction scenes and vocal prosody tell us about the way social cognition works in children with 22q11.2DS?

Impairments in social cognition have been frequently described in 22q11.2 deletion syndrome (22q11.2DS) and are thought to be a hallmark of difficulties in social interactions. The present study addresses aspects that are critical for everyday social cognitive functioning but have received little attention so far. Sixteen children with 22q11.2DS and 22 controls completed 1 task of facial expression recognition, 1 task of attribution of facial expressions to faceless characters involved in visually presented social interactions, and 1 task of attribution of facial expressions to characters involved in aurally presented dialogues. All three tasks have in common to involve processing of emotions. All participants also completed two tasks of attention and two tasks of visual spatial perception, and their parents completed some scales regarding behavioural problems of their children. Patients performed worse than controls in all three tasks of emotion processing, and even worse in the second and third tasks. However, they performed above chance level in all three tasks, and the results were independent of IQ, age and gender. The analysis of error patterns suggests that patients tend to coarsely categorize situations as either attractive or repulsive and also that they have difficulties in differentiating emotions that are associated with threats. An isolated association between the tasks of emotion and behaviour was found, showing that the more frequently patients with 22q11.2DS perceive happiness where there is not, the less they exhibit aggressive behaviour.

Computer-based cognitive remediation program for the treatment of behavioral problems in children with intellectual disability: the «COGNITUS & MOI¼ study protocol for a randomized controlled trial.

BACKGROUND: Comorbid psychiatric disorders are frequent in children with intellectual disability (ID). Given the limitations of drugs treatments, cognitive remediation could be a promising tool to reduce these challenging behaviors but evidence is still scarce. Our group recently developed the «COGNITUS & MOI¼ program that is designed to train the attentional and visuospatial skills in children with ID. This study investigates the efficiency of the «COGNITUS & MOI¼ program in this condition. METHODS: Children (age: 6.00-13.11) with mild to moderate ID and behavioral problems, will benefit from a therapy during a 16 week randomized controlled trial. One group will be randomly treated with the «COGNITUS & MOI¼ program and the other with a motor skill and video viewing intervention. All participants will undergo a behavioral, functional and neurocognitive assessment at baseline, post-intervention, and 6-month follow-up. Primary outcome will be the change from the baseline of the score on the "hyperactivity - noncompliance" subscale of the Aberrant Behavior Checklist. DISCUSSION: If the results are conclusive, the «COGNITUS & MOI¼ program could be added to the therapeutic arsenal against challenging behavior in children with ID. TRIAL REGISTRATION: ClinicalTrials NCT02797418 . Date registered: 8th of June 2016.