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

Evaluation neuropsychologique et pistes de prise en charge d'une petite fille ancienne prématurée avec un syndrome de Turner

Ce travail s'intéresse à l'évaluation neuropsychologique d'une petite fille de 8.7 ans, Léa, née à 32 semaines d'âge gestationnel et qui présente un syndrome de Turner. Suite à des difficultés scolaires qui persistent, Léa est orientée pour un bilan neuropsychologique dans le but de mieux cerner les difficultés rencontrées et, si besoin, de mettre en place une prise en charge adéquate. Le bilan neuropsychologique effectué a permis de mettre en évidence, au premier plan, des difficultés sur le plan visuo-spatial et visuo-constructif ainsi qu'au niveau attentionnel. On constate également des performances faibles aux tâches évaluant la mémoire à court terme et de travail ainsi qu'en mémoire sémantique. Elle se situe également en retard en ce qui concerne ses apprentissages scolaires en lecture et en mathématique. L'évaluation a de plus permis mettre en avant l'hypothèse selon laquelle les déficits spécifiques de Léa au niveau visuo-spatial, attentionnel et mnésique influencent les résultats obtenus au test d'intelligence générale et le bon déroulement de ses apprentissages. Enfin, des pistes de prise en charge ont été explorées. Notamment dans le but d'apprendre à Léa des stratégies d'apprentissage plus efficaces lui permettant d'optimaliser ses capacités de compréhension de texte et d'énoncés mathématiques en vue des épreuves cantonales

Le traitement morphologique lors de la lecture chez le jeune lecteur

De plus en plus d’études relatent que le jeune lecteur effectue un traitement de nature morphologique lors de l’identification de mots écrits. Le paradigme d’amorçage masqué en décision lexicale a mis en évidence un processus de segmentation morphologique qui s’active en présence d’une structure morphologique (racine + affixe) dès l’âge de 8 ans. Néanmoins, ce processus de segmentation morphologique a peu été exploré en lien avec les processus phonologiques que nous savons indispensables dans l’acquisition de la lecture et omniprésents à cet âge..

Negative and paranoid symptoms are associated with negative performance beliefs and social cognition in 22q11.2 deletion syndrome

22q11.2 deletion syndrome (22q11.2DS) is a neurogenetic condition associated with an increased risk of developing schizophrenia. Previous studies have shown that negative symptoms represent the most specific clinical characteristic of psychosis in 22q11.2DS and are strongly associated with outcome. However, the psychological mechanisms associated with these symptoms in this population are poorly understood. In accordance with recent conceptualizations in the field of schizophrenia, the present study aims at investigating whether negative symptoms are associated with the presence of negative performance beliefs and cognitive deficits

Negative and paranoid symptoms are associated with negative performance beliefs and social cognition in 22q11.2 deletion syndrome

22q11.2 deletion syndrome (22q11.2DS) is a neurogenetic condition associated with an increased risk of developing schizophrenia. Previous studies have shown that negative symptoms represent the most specific clinical characteristic of psychosis in 22q11.2DS and are strongly associated with outcome. However, the psychological mechanisms associated with these symptoms in this population are poorly understood. In accordance with recent conceptualizations in the field of schizophrenia, the present study aims at investigating whether negative symptoms are associated with the presence of negative performance beliefs and cognitive deficits.status: publishe

Predominant negative symptoms in 22q11.2 deletion syndrome and their associations with cognitive functioning and functional outcome

22q11.2 deletion syndrome (22q11.2DS) is a neurogenetic condition associated with increased risk for schizophrenia. No study do date has explored how positive and negative symptoms of psychosis are distributed among individual patients with 22q11.2DS and if distinct patterns of symptoms can be identified. Negative symptoms being more frequent than positive symptoms in 22q11.2DS, we expected that a high number of patients would display predominant negative symptoms (PNS), whereas predominant positive symptoms would be less frequently reported. The present study aims at investigating the cognitive deficits and functional outcome associated with distinct patterns of psychotic symptoms in 22q11.2DS. 63 adolescents and young adults with 22q11.2DS participated in this study. Each participant underwent a clinical and a cognitive evaluation. A cluster analysis was used to identify groups of individuals with distinct patterns of symptoms. Individuals from the different clusters were then compared on a series of cognitive measures and on functional outcome. Three clusters of individuals were identified: low levels of symptoms, PNS, and high levels of symptoms. Individuals with PNS had significantly lower visual memory scores and decreased processing speed compared to participants with low levels of symptoms. They were also rated as having lower functional and occupational outcome. The present results indicate that one third of adolescents and young adults with 22q11.2DS display PNS. This pattern of symptoms was associated with specific cognitive deficits and decreased functional outcome. Future studies are needed to examine the developmental trajectories of these individuals and assess their risk of conversion to full-blown psychosis.publisher: Elsevier articletitle: Predominant negative symptoms in 22q11.2 deletion syndrome and their associations with cognitive functioning and functional outcome journaltitle: Journal of Psychiatric Research articlelink: http://dx.doi.org/10.1016/j.jpsychires.2013.10.010 content_type: article copyright: Copyright © 2013 Elsevier Ltd. All rights reserved.status: publishe

Multitasking Abilities in Adolescents With 22q11.2 Deletion Syndrome: Results From an Experimental Ecological Paradigm

The 22q11.2 deletion syndrome (22q11.2DS) is associated with cognitive and functional impairments and increased risk for schizophrenia. We characterized multitasking abilities of adolescents with 22q11.2DS using an experimental naturalistic setting and examined whether multitasking impairments were associated with real-world functioning and negative symptoms. Thirty-nine adolescents (19 with 22q11.2DS and 20 controls) underwent the Multitasking Evaluation for Adolescents. Real-world functioning and clinical symptoms were assessed in participants with 22q11.2DS. Adolescents with 22q11.2DS performed poorly in the multitasking evaluation. Our data also suggest that multitasking abilities are related to adaptive functioning in the practical domain and negative symptoms. This study shows that adolescents with 22q11.2DS are characterized by multitasking impairments, which may be relevant for several aspects of the clinical phenotype.status: publishe

Predominant negative symptoms in 22q11.2 deletion syndrome and their associations with cognitive functioning and functional outcome

22q11.2 deletion syndrome (22q11.2DS) is a neurogenetic condition associated with increased risk for schizophrenia. No study do date has explored how positive and negative symptoms of psychosis are distributed among individual patients with 22q11.2DS and if distinct patterns of symptoms can be identified. Negative symptoms being more frequent than positive symptoms in 22q11.2DS, we expected that a high number of patients would display predominant negative symptoms (PNS), whereas predominant positive symptoms would be less frequently reported. The present study aims at investigating the cognitive deficits and functional outcome associated with distinct patterns of psychotic symptoms in 22q11.2DS. 63 adolescents and young adults with 22q11.2DS participated in this study. Each participant underwent a clinical and a cognitive evaluation. A cluster analysis was used to identify groups of individuals with distinct patterns of symptoms. Individuals from the different clusters were then compared on a series of cognitive measures and on functional outcome. Three clusters of individuals were identified: low levels of symptoms, PNS, and high levels of symptoms. Individuals with PNS had significantly lower visual memory scores and decreased processing speed compared to participants with low levels of symptoms. They were also rated as having lower functional and occupational outcome. The present results indicate that one third of adolescents and young adults with 22q11.2DS display PNS. This pattern of symptoms was associated with specific cognitive deficits and decreased functional outcome. Future studies are needed to examine the developmental trajectories of these individuals and assess their risk of conversion to full-blown psychosis. © 2013 Elsevier Ltd

Multitasking Abilities in Adolescents With 22q11.2 Deletion Syndrome: Results From an Experimental Ecological Paradigm

The 22q11.2 deletion syndrome (22q11.2DS) is associated with cognitive and functional impairments and increased risk for schizophrenia. We characterized multitasking abilities of adolescents with 22q11.2DS using an experimental naturalistic setting and examined whether multitasking impairments were associated with real-world functioning and negative symptoms. Thirty-nine adolescents (19 with 22q11.2DS and 20 controls) underwent the Multitasking Evaluation for Adolescents. Real-world functioning and clinical symptoms were assessed in participants with 22q11.2DS. Adolescents with 22q11.2DS performed poorly in the multitasking evaluation. Our data also suggest that multitasking abilities are related to adaptive functioning in the practical domain and negative symptoms. This study shows that adolescents with 22q11.2DS are characterized by multitasking impairments, which may be relevant for several aspects of the clinical phenotype. © AAIDD