Subthreshold social cognitive deficits may be a key to distinguish 22q11.2DS from schizophrenia.

AIM: Social cognitive impairments are core features in 22q11.2 deletion syndrome (22q11.2DS) and schizophrenia (SCZ). Indeed, adults with 22q.11.2 DS often have poorer social competence as well as poorer performance on measures of social cognitive skills (emotion recognition and theory of mind, ToM) compared with typically developing people. However, studies comparing specific social cognitive components in 22q11.2DS and SCZ have not yet been widely conducted. METHODS: In this study we compared performances of 22q11.2DS and SCZ on both facial emotion recognition and ToM. Patients with 22q11.2DS (n = 18) and matched SCZ patients were recruited. After neuropsychological testing, the facial emotion recognition test assessed the patients' ability to recognize six basic, universal emotions (joy, anger, sadness, fear, disgust, and contempt). The Versailles-situational intentional reading evaluated ToM with six scenes from movies showing characters in complex interactions (involving hints, lies, and indirect speech). RESULTS: We show that 22q11.2DS exhibited significantly lower performance in emotion recognition than SCZ patients did, especially for disgust, contempt, and fear. This impairment seems to be a core cognitive phenotype in 22q11.2DS, regardless of the presence of SCZ symptoms. Concerning ToM, our results may highlight the same impairment level in 22q11.2DS and SCZ but require to be replicated in a larger cohort. CONCLUSION: Our results document the existence of threshold social cognitive deficits distinguishing 22q11.2DS from SCZ.

Social cognition in Wilson's disease: A new phenotype?

Studies focusing on neuropsychological impairments in Wilson's disease (WD) have highlighted that patients showing neurological signs present significant deficits in a wide range of cognitive domains. Attentional and executive impairments have also been described in people with hepatic WD. However, social cognition abilities, i.e. cognitive processes required to perceive the emotions, intentions and dispositions of other people, have not been clearly investigated in WD. In this study we examined the social cognitive functioning in 19 patients with WD depending on their clinical status-Neurological versus Non-Neurological ("hepatic") forms-compared to 20 healthy controls. For the very first time, results highlighted that patients with WD had significant impairments in the three major components of social cognition: emotion recognition, Theory of Mind and attributional style. However, these deficits differ depending on the form of the disease: patients with neurological signs showed a wide range of deficits in the three components that were assessed-results notably revealed impairments in recognizing "fear", "anger", and "disgust", a significant Theory of Mind deficit and an "aggression bias"-whereas Non-Neurological patients only showed deficits on test assessing attributional bias, with a trend to react more "aggressively" to ambiguous social situations than healthy controls, as observed in Neurological WD patients, and a specific impairment in "anger" recognition. Our findings are discussed in the light of both neurocognitive impairments and brain damages, and especially those affecting the basal ganglia, as observed in people with WD.

Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature.

BACKGROUND: Sex chromosome aneuploidies occur in approximately one in 420 live births. The most frequent abnormalities are 45,X (Turner syndrome), 47,XXX (triple X), 47,XXY (Klinefelter syndrome), and 47,XYY. The prevalence of males with more than one extra sex chromosome (e.g. 48,XXYY or 48,XXXY) is less common. However, the literature provides little information about the cognitive and behavioural phenotype and the natural history of the disease. We report the clinical, neurocognitive, social cognitive and psychiatric characterization of a patient with 49,XYYYY syndrome. CASE PRESENTATION: The patient presented with a complex phenotype including a particular cognitive profile with intellectual deficiency and autism spectrum disorder (ASD) with limited interests. Moreover, social anxiety disorder with selective mutism and separation anxiety disorder were observed (DSM-5 criteria, MINI Assessment). CONCLUSION: It is now admitted that 49,XYYYY has unique medical, neurodevelopmental and behavioural characteristics. Interestingly, ASD is more common in groups with Y chromosome aneuploidy. This clinical report suggests that understanding the cognitive and social functioning of these patients may provide new insights into possible therapeutic strategies, as cognitive remediation or social cognitive training.

«Cognitus & Moi¼: A Computer-Based Cognitive Remediation Program for Children with Intellectual Disability.

Attentional, visuospatial, and social cognition deficits have a negative impact on children's adaptative and social competences and, as a result, on their ability to achieve a normal functioning and behavior. Until now and despite the frequency of those deficits, there is a lack of children's specific cognitive remediation tools specifically dedicated to attentional and visuospatial areas. The «Cognitus & Moi¼ program involves a variety of exercises in a paper and/or pencil (n = 30) or a computerized format (n = 29) and a strategy coaching approach. Each module of «Cognitus & Moi¼ targets a single impaired cognitive area, within the limits of cognitive domains' overlapping. The little cartoon character named Cognitus, who illustrates the program, is supposed to be very friendly and kind toward children. Cognitus will accompany them throughout the program for an effective and positive reinforcement. The main goal of «Cognitus & Moi¼ is to adjust to children's difficulties in daily life. Moreover, since the cognitive remediation benefit is complex to apply in daily life, the program is based on a metacognitive strategy. After a complete neuropsychological assessment and a psychoeducational session (with the child and the parents), 16 1-h-sessions of cognitive remediation with the therapist are proposed. Each session is composed of three parts: (1) computerized tasks focusing on specific attentional or visuospatial components (20 min). The attentional module targets hearing, visual, and divided attention. A double attention task is also proposed. The visuospatial module targets eye tracking and gaze direction, spatial orientation, visuospatial memory and construction, and mental imagery; (2) pen and paper tasks focusing on the same processes (20 min) and a facial emotion recognition task; (3) a proposal of a home-based task (during 20 min). Weekly, specific attentional and visuospatial home tasks are proposed to the child and analyzed with the parents and the therapist. Indeed, home exercises are useful to promote the transfer of strategies to daily life and their subsequent automation. The heterogeneity of cognitive deficits in intellectual deficiency necessitates an individualized cognitive remediation therapy. In this regard, «Cognitus & Moi¼ seems to be a promising tool.

Facial emotion perception by intensity in children and adolescents with 22q11.2 deletion syndrome.

Difficulties in the recognition of emotions in expressive faces have been reported in people with 22q11.2 deletion syndrome (22q11.2DS). However, while low-intensity expressive faces are frequent in everyday life, nothing is known about their ability to perceive facial emotions depending on the intensity of expression. Through a visual matching task, children and adolescents with 22q11.2DS as well as gender- and age-matched healthy participants were asked to categorise the emotion of a target face among six possible expressions. Static pictures of morphs between neutrality and expressions were used to parametrically manipulate the intensity of the target face. In comparison to healthy controls, results showed higher perception thresholds (i.e. a more intense expression is needed to perceive the emotion) and lower accuracy for the most expressive faces indicating reduced categorisation abilities in the 22q11.2DS group. The number of intrusions (i.e. each time an emotion is perceived as another one) and a more gradual perception performance indicated smooth boundaries between emotional categories. Correlational analyses with neuropsychological and clinical measures suggested that reduced visual skills may be associated with impaired categorisation of facial emotions. Overall, the present study indicates greater difficulties for children and adolescents with 22q11.2DS to perceive an emotion in low-intensity expressive faces. This disability is subtended by emotional categories that are not sharply organised. It also suggests that these difficulties may be associated with impaired visual cognition, a hallmark of the cognitive deficits observed in the syndrome. These data yield promising tracks for future experimental and clinical investigations.

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome.

BACKGROUND: Smith-Magenis syndrome is a complex neurodevelopmental disorder that includes intellectual deficiency, speech delay, behavioral disturbance and typical sleep disorders. Ninety percent of the cases are due to a 17p11.2 deletion encompassing the RAI1 gene; other cases are linked to mutations of the same gene. Behavioral disorders often include outbursts, attention deficit/hyperactivity disorders, self-injury with onychotillomania and polyembolokoilamania (insertion of objects into body orifices), etc. Interestingly, the stronger the speech delay and sleep disorders, the more severe the behavioral issues. Sleep disturbances associate excessive daytime sleepiness with nighttime agitation. They are underpinned by an inversion of the melatonin secretion cycle. However, the combined intake of beta-blockers in the morning and melatonin in the evening may radically alleviate the circadian rhythm problems. DISCUSSION: Once sleep disorders are treated, the next challenge is finding an effective treatment for the remaining behavioral problems. Unfortunately, there is a lack of objective guidelines. A comprehensive evaluation of such disorders should include sleep disorders, potential causes of pain, neurocognitive level and environment (i.e. family and school). In any case, efforts should focus on improving communication skills, identifying and treating attention deficit/hyperactivity, aggressiveness and anxiety. Treatment of Smith-Magenis syndrome is complex and requires a multidisciplinary team including, among others, geneticists, psychiatrists, neuropediatricians/neurologists, somnologists, developmental and behavioral pediatricians, and speech and language therapists.