60 research outputs found
Clinical and cognitive risk factors for psychotic symptoms in 22q11.2 deletion syndrome: a transversal and longitudinal approach
22q11.2 deletion syndrome (22q11DS) is associated with increased risk for schizophrenia. Better identifying risk factors for the emergence of psychotic symptoms in this population is needed to improve clinical assessment and early interventions. Schizophrenia spectrum disorders, hallucinations and delusions were characterized in an original sample of 104 individuals with 22q11DS. Further analysis of positive and negative symptoms was performed in a subsample of 59 individuals. Finally, longitudinal data available in 56 patients were used to explore the developmental trajectories of psychotic symptoms as well as the associations between psychotic symptoms and cognitive functioning. Schizophrenia spectrum disorders and psychotic symptoms were frequent in adolescent and adults with 22q11DS. The severity of hallucinations and non-persecutory delusional ideas discriminated patients at ultra-high risk for conversion to psychosis. Whereas approximately one-third of patients experienced an emergence of psychotic symptoms during a 4-year interval, 20% displayed transient symptoms. Individuals with psychotic symptoms were characterized by a lower cognitive functioning in the context of the 22q11DS. The present study adds important data on the characteristics and developmental trajectory of psychotic symptoms in this population. This information may ultimately help clinicians dealing with these patients to reduce the duration of untreated psychosis and improve outcome
Regional cortical volumes and congenital heart disease: a MRI study in 22q11.2 deletion syndrome
Children with congenital heart disease (CHD) who survive surgery often present impaired neurodevelopment and qualitative brain anomalies. However, the impact of CHD on total or regional brain volumes only received little attention. We address this question in a sample of patients with 22q11.2 deletion syndrome (22q11DS), a neurogenetic condition frequently associated with CHD. Sixty-one children, adolescents, and young adults with confirmed 22q11.2 deletion were included, as well as 80 healthy participants matched for age and gender. Subsequent subdivision of the patients group according to CHD yielded a subgroup of 27 patients with normal cardiac status and a subgroup of 26 patients who underwent cardiac surgery during their first years of life (eight patients with unclear status were excluded). Regional cortical volumes were extracted using an automated method and the association between regional cortical volumes, and CHD was examined within a three-condition fixed factor. Robust protection against type I error used Bonferroni correction. Smaller total cerebral volumes were observed in patients with CHD compared to both patients without CHD and controls. The pattern of bilateral regional reductions associated with CHD encompassed the superior parietal region, the precuneus, the fusiform gyrus, and the anterior cingulate cortex. Within patients, a significant reduction in the left parahippocampal, the right middle temporal, and the left superior frontal gyri was associated with CHD. The present results of global and regional volumetric reductions suggest a role for disturbed hemodynamic in the pathophysiology of brain alterations in patients with neurodevelopmental disease and cardiac malformations
Clinical and cognitive risk factors for psychotic symptoms in 22q11.2 deletion syndrome: a transversal and longitudinal approach
Encoding and retrieval processes in velo-cardio-facial syndrome (VCFS)
Velo-cardio-facial syndrome (VCFS) is a neurogenetic disorder associated with very high risk for developing schizophrenia. More than half of affected individuals experience transient psychotic symptoms during childhood and a third may develop schizophrenia. Memory regulation deficits disturbing both the encoding and retrieval stages of memory represent core deficits in the cognitive profile associated with schizophrenia. In this study, the authors investigate memory regulation processes in 33 individuals with VCFS along with 33 age- and sex-matched control participants. By using a directed forgetting paradigm and a continuous recognition paradigm, the authors examined selective encoding and suppression of irrelevant contents during retrieval in VCFS. Group comparison analyses revealed comparable performances on selective encoding and recognition accuracy between the VCFS group and control group. However, individuals with VCFS were more likely to make false recognitions and showed deficits in the suppression of irrelevant contents. Results suggest that trait-like deficits of memory regulation in VCFS can be observed during the retrieval stage, while selective encoding remains efficient. Memory regulation processes during retrieval may constitute a trait deficit in the memory profile of individuals with VCFS and may contribute to the cognitive deficits underlying an increased risk for developing schizophrenia in this population
Differential development of selectivity for faces and bodies in the fusiform gyrus
Viewing faces or bodies activates category-selective areas of visual cortex, including the fusiform face area (FFA), fusiform body area (FBA), and extrastriate body area (EBA). Here, using fMRI, we investigate the development of these areas, focusing on the right FFA and FBA. Despite the overlap of functionally defined FFA and FBA (54%-75% overlap), we found that these regions developed along different trajectories. With age (7-32 years old), the FFA gradually increased in size and selectivity, and was significantly larger and more face-selective in adults than children. By contrast, the size and selectivity of the FBA did not correlate with age, and were equivalent in children and adults. Whereas in adults the FFA and FBA were comparable in size, in children the FBA was on average 70% larger than the FFA. These findings suggest that, in children, the fusiform gyrus is predominantly selective for bodies, with commensurate face-selective responses apparent later in development. Moreover, differences in the development of the FFA and FBA indicate that overlapping functional brain areas, supported by the same anatomical structure, can develop along different trajectories
Temporal perception in velo-cardio-facial syndrome
Temporal perception abilities refer to timing mechanisms used in daily life, such as the ability to reproduce and judge time, previously associated with the basal ganglia and the cerebellum, respectively. In individuals affected by velo-cardio-facial (VCFS), both the basal ganglia and the cerebellum have been shown to be particularly vulnerable to abnormal brain development, though related temporal perception abilities have yet to be investigated. In this study, our goal was to characterize time perception and reproduction abilities in individuals with VCFS. Compared to controls, we hypothesized that individuals with VCFS would be less accurate and show more variability when reproducing a fixed-interval series of auditory beeps; furthermore, we predicted that they would show a higher perceptive acuity threshold when discriminating between subtle time differences. Forty-two subjects with VCFS and 35 matched controls participated in temporal perception evaluations. In the reproduction of time finger-tapping task, subjects were asked to press a button in cadence with a series of fixed interval beeps, and then to hold the same tempo when the beeps stopped. Overall, the VCFS group showed less accuracy and more variability in reproduction ability when compared to controls. In the second experiment, subjects were tested on auditory and visual time perception tasks. Subjects were presented with a fixed interval stimulus and a stimulus of varying duration, and were asked to determine the longer of the two. The VCFS group required a greater discrepancy between tones to accurately discriminate the two stimuli. The results point to an alteration in temporal perception associated with VCFS. Implications of altered temporal perception abilities and their relationship to the VCFS phenotype are discussed
Hippocampal volume reduction in 22q11.2 deletion syndrome
Hippocampal volume reduction and decreased memory skills form a characteristic neurofunctional alteration observed in schizophrenia. Individuals affected with 22q11.2 deletion syndrome (22q11DS), while exhibiting memory deficits throughout development, are also at high risk for developing schizophrenia. The present study sought to investigate hippocampal volume reduction as separate of global grey matter reduction in a large, independent sample of individuals with 22q11DS. Volumetric data from structural magnetic resonance imaging was obtained for 43 individuals affected with 22q11DS, aged 6-39 years of age, as well as for 40 healthy individuals matched for age and gender. Drawing of the amygdala was included to enhance the delineation of the hippocampus, and circumscription of both the amygdala and the hippocampus were executed using an increased resolution matrix. After controlling for total grey volume reductions observed in affected individuals, a significant decrease in hippocampus volume was observed in the 22q11DS group, driven by significant bilateral volumetric reduction of the body of the hippocampus. These results are discussed in reference to memory and cerebral alterations already reported in 22q11DS. Further, the specific implications of hippocampus body volume reduction are outlined in light of its anatomical relationships and its function in memory. Finally, reduction of hippocampal volume in 22q11DS is examined in the context of psychiatric risk status associated to the deletion
Emotional vs. Neutral Face Exploration and Habituation: An Eye-Tracking Study of Preschoolers With Autism Spectrum Disorders
Diminished orienting to social stimuli, and particularly to faces, is a core feature of autism spectrum disorders (ASDs). Impaired face processing has been linked to atypical attention processes that trigger a cascade of pathological development contributing to impaired social communication. The aim of the present study is to explore the processing of emotional and neutral faces using an eye-tracking paradigm (the emotional faces task) with a group of 24 children with ASD aged 6 and under and a group of 22 age-matched typically developing (TD) children. We also measure habituation to faces in both groups based on the presentation of repeated facial expressions. Specifically, the task consists of 32 pairs of faces, a neutral face and an emotional face from the same identity, shown side by side on the screen. We observe differential exploration of emotional faces in preschoolers with ASD compared with TD. Participants with ASD make fewer fixations to emotional faces than their TD peers, and the duration of their first fixation on emotional faces is equivalent to their first fixation on neutral faces. These results suggest that emotional faces may be less interesting for children with ASD. We also observe a habituation process to neutral faces in both children with ASD and TD, who looked less at neutral faces during the last quarter of the task compared with the first quarter. By contrast, TD children show increased interest in emotional faces throughout the task, looking slightly more at emotional faces during the last quarter of the task than during the first quarter. Children with ASD demonstrate neither habituation nor increased interest in the changing emotional expressions over the course of the task, looking at the stimuli for equivalent time throughout the task. A lack of increased interest in emotional faces may suggest a lack of sensitivity to changes in expression in young children with ASD
Monitoring of self-generated speech in adolescents with 22q11.2 deletion syndrome
OBJECTIVES: The present report examines the monitoring of self-generated speech in adolescents with 22q11.2 deletion syndrome (22q11DS), a neurogenetic disorder associated with very high risk for psychosis. DESIGN: Between-participant group design. METHODS: In this study, 20 adolescents with 22q11DS, 19 age- and IQ-matched controls, and 19 typically developing adolescents were enrolled. Participants completed a speech-monitoring task, in which they were asked to silently or overtly read a series of word and non-word items. Subjects then filled out a recognition sheet containing studied and novel items. They were asked to identify the previously studied item, and to attribute the reading condition (silent vs. overt) under which each recognized item was encoded. RESULTS: Adolescents with 22q11DS commit more external attribution errors compared to both control groups, by exhibiting an increased tendency to report silently read items as though they had been read overtly. Further, results suggest that increased cognitive effort exacerbates the external attribution tendency in adolescents with 22q11DS. Increased internal attributions were also observed in the IQcontrol and 22q11DS groups in comparison to typically developing adolescents. CONCLUSIONS: Similarly to adult individuals exhibiting positive symptoms of psychosis, adolescents with 22q11DS exhibit an external attribution bias for inner speech. This bias seems to be exacerbated by increased cognitive effort, suggesting a failure to recollect information pertaining to cognitive operations during self-monitoring. Cognitive biases associated to schizophrenia may be detected in adolescents at very high risk for psychosis. These observations provide further evidence for the presence of an external attribution bias along the clinical continuum of psychosis vulnerability
Does differential visual exploration contribute to visual memory impairments in 22q11.2 microdeletion syndrome?
Chromosome 22q11.2 microdeletion syndrome (22q11.2DS) is a genetic syndrome characterised by a unique cognitive profile. Individuals with the syndrome present several non-verbal deficits, including visual memory impairments and atypical exploration of visual information. In this study, we seek to understand how visual attention may contribute to memory difficulties in 22q11.2DS by tracking eye movements during the encoding phase of a visual short-term memory task
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