Task-switching deficits and repetitive behaviour in genetic neurodevelopmental disorders: Data from children with Prader-Willi syndrome chromosome 15 q11-q13 deletion and boys with Fragile X syndrome

Prader-Willi syndrome (PWS) and Fragile X syndrome (FraX) are associated with distinctive cognitive and behavioural profiles. We examined whether repetitive behaviours in the two syndromes were associated with deficits in specific executive functions. PWS, FraX, and typically developing (TD) children were assessed for executive functioning using the Test of Everyday Attention for Children and an adapted Simon spatial interference task. Relative to the TD children, children with PWS and FraX showed greater costs of attention switching on the Simon task, but after controlling for intellectual ability, these switching deficits were only significant in the PWS group. Children with PWS and FraX also showed significantly increased preference for routine and differing profiles of other specific types of repetitive behaviours. A measure of switch cost from the Simon task was positively correlated to scores on preference for routine questionnaire items and was strongly associated with scores on other items relating to a preference for predictability. It is proposed that a deficit in attention switching is a component of the endophenotypes of both PWS and FraX and is associated with specific behaviours. This proposal is discussed in the context of neurocognitive pathways between genes and behaviour.

Simulation using novel equipment designed to explain spirometric abnormalities in respiratory disease enhances learning in higher cognitive domains

Simulation of disorders of respiratory mechanics shown by spirometry provides insight into the pathophysiology of disease but some clinically important disorders have not been simulated and none have been formally evaluated for education. We have designed simple mechanical devices which, along with existing simulators, enable all the main dysfunctions which have diagnostic value in spirometry to be simulated and clearly explained with visual and haptic feedback. We modelled the airways as Starling resistors by a clearly visible mechanical action to simulate intra- and extra-thoracic obstruction. A narrow tube was used to simulate fixed large airway obstruction and inelastic bands to simulate restriction. We hypothesized that using simulators whose action explains disease promotes learning especially in higher domain educational objectives. The main features of obstruction and restriction were correctly simulated. Simulation of variable extra-thoracic obstruction caused blunting and plateauing of inspiratory flow, and simulation of intra-thoracic obstruction caused limitation of expiratory flow with marked dynamic compression. Multiple choice tests were created with questions allocated to lower (remember and understand) or higher cognitive domains (apply, analyse and evaluate). In a cross-over design, overall mean scores increased after 1½ h simulation spirometry (43-68 %, effect size 1.06, P < 0.0001). In higher cognitive domains the mean score was lower before and increased further than lower domains (Δ 30 vs 20 %, higher vs lower effect size 0.22, P < 0.05). In conclusion, the devices successfully simulate various patterns of obstruction and restriction. Using these devices medical students achieved marked enhancement of learning especially in higher cognitive domains.

Long-term outcome after cognitive and behavioral regression in nonlesional epilepsy with continuous spike-waves during slow-wave sleep.

PURPOSE: To present the long-term follow-up of 10 adolescents and young adults with documented cognitive and behavioral regression as children due to nonlesional focal, mainly frontal, epilepsy with continuous spike-waves during slow wave sleep (CSWS). METHODS: Past medical and electroencephalography (EEG) data were reviewed and neuropsychological tests exploring main cognitive functions were administered. KEY FINDINGS: After a mean duration of follow-up of 15.6 years (range, 8-23 years), none of the 10 patients had recovered fully, but four regained borderline to normal intelligence and were almost independent. Patients with prolonged global intellectual regression had the worst outcome, whereas those with more specific and short-lived deficits recovered best. The marked behavioral disorders resolved in all but one patient. Executive functions were neither severely nor homogenously affected. Three patients with a frontal syndrome during the active phase (AP) disclosed only mild residual executive and social cognition deficits. The main cognitive gains occurred shortly after the AP, but qualitative improvements continued to occur. Long-term outcome correlated best with duration of CSWS. SIGNIFICANCE: Our findings emphasize that cognitive recovery after cessation of CSWS depends on the severity and duration of the initial regression. None of our patients had major executive and social cognition deficits with preserved intelligence, as reported in adults with early destructive lesions of the frontal lobes. Early recognition of epilepsy with CSWS and rapid introduction of effective therapy are crucial for a best possible outcome.

Treatment motivation in adolescents with psychosis or at high risk: Determinants and impact on improvements in symptoms and cognitive functioning, preliminary results.

Abstract Low motivation is frequent in chronic disorders such as psychosis and may limit treatment efficacy. Although some evidence supports this view in adults, few studies so far have focused on adolescents. We assessed the impact of baseline symptoms, cognitive deficits and cognitive treatment characteristics on treatment motivation (TM), and examined whether TM affected treatment outcome. Twenty-eight adolescents with psychotic disorders participated in 16 sessions of computerized cognitive remediation or games. TM was assessed for each session. Lower TM was predicted by more severe symptoms at baseline, and was associated with smaller improvements in symptoms and both cognitive and psychosocial functioning at the end of the intervention. Experiencing success in the treatment exercises enhanced TM in all patients.

Impact of a cis-associated gene expression SNP on chromosome 20q11.22 on bipolar disorder susceptibility, hippocampal structure and cognitive performance.

BackgroundBipolar disorder is a highly heritable polygenic disorder. Recent enrichment analyses suggest that there may be true risk variants for bipolar disorder in the expression quantitative trait loci (eQTL) in the brain.AimsWe sought to assess the impact of eQTL variants on bipolar disorder risk by combining data from both bipolar disorder genome-wide association studies (GWAS) and brain eQTL.MethodTo detect single nucleotide polymorphisms (SNPs) that influence expression levels of genes associated with bipolar disorder, we jointly analysed data from a bipolar disorder GWAS (7481 cases and 9250 controls) and a genome-wide brain (cortical) eQTL (193 healthy controls) using a Bayesian statistical method, with independent follow-up replications. The identified risk SNP was then further tested for association with hippocampal volume (n = 5775) and cognitive performance (n = 342) among healthy individuals.ResultsIntegrative analysis revealed a significant association between a brain eQTL rs6088662 on chromosome 20q11.22 and bipolar disorder (log Bayes factor = 5.48; bipolar disorder P = 5.85×10(-5)). Follow-up studies across multiple independent samples confirmed the association of the risk SNP (rs6088662) with gene expression and bipolar disorder susceptibility (P = 3.54×10(-8)). Further exploratory analysis revealed that rs6088662 is also associated with hippocampal volume and cognitive performance in healthy individuals.ConclusionsOur findings suggest that 20q11.22 is likely a risk region for bipolar disorder; they also highlight the informative value of integrating functional annotation of genetic variants for gene expression in advancing our understanding of the biological basis underlying complex disorders, such as bipolar disorder.

The efficacy of cognitive retraining of attentional deficits for a client who has schizophrenia

The purpose of this study was to assess the efficacy of the Process Specific Approach to cognitive rehabilitation for a client with schizophrenia who has attentional deficits. The study was a single case experimental design which followed a variation of the multiple baseline approach. Prior to training of the attentional deficit, multiple baseline assessments were completed. These included an ov:erview of the sUbject's information processing ability, random measures of attention and a genera.l level of functioning in living, learning and working environments. During the re-training, attention tests were administered at the completion of each attention component. A general functional evaluation through interviews and a measure of information processing ability were. completed after the re-training was concluded. The results of the study demonstrate a significant i'mprovement in attention and memory measures. Qualitative data indicate si·gni.ficant others observed improvements in performance in r livi'ng, learning and working environments. The results suggest this approach to cognitive rehabilitation was effective with this subject and further research to establish generalizability is recommended.

A naturalistic observation of the play behaviour of children with autism spectrum disorders /

Cognitive and social levels of play engaged in by four-to-eight-year-old children with autism spectrum disorders were examined in naturalistic classroom settings. In addition, play at home was compared with play at school via parent and educator interviews. Seventeen school-age children, their educators and caregivers participated in the study. The most frequently observed play behaviours included parallel-functional play, adult interactions and solitary-functional play. The play of the children in the current study was consistent with that of typically-developing preschoolers. Mothers and educators did not differ significantly in their perspectives of the participants' play behaviours. In general, educators' and caregivers' reports were positively related to researcher observations of participants' play behaviours. Methodological considerations and practical implications for the findings are discussed.

Self-presentational motives in eating disorders : a known groups difference approach

Self-presentation reflects the processes by which individuals attempt to monitor and control the impressions others form of them (Schlenker & Leary, 1982). Concerns over impressions conveyed have been linked to numerous health behaviors (Crawford & Eklund, 1994; Martin, Leary, & O'Brien, 2001). The present study investigated the role of cognitive manifestations of dispositional and situational self presentational motivation (SPM) in 131 females with known groups differences on a measure of eating disorders. Participants were classified as in-treatment (IN = 39); at risk (AT = 46); and not at risk (NOT = 46) for eating disordered behaviour. Each participant completed The Brief Fear of Negative Evaluation Scale (FNE; Leary, 1983), the Public Self-Consciousness Scale (PSC; Fenigstein, Sheier, & Buss, 1975), and the Social Physique Anxiety Scale (SPA; Hart, Leary, & Rejeski, 1989), as measures of dispositional SPM. Situational SPM was assessed through Self-Presentational Efficacy (SPE; Gammage, Hall, & Martin, 2004), and the Exercise Motivation Inventory-2 (Markland & Ingeldew, 1997). Significant differences emerged on the measure of eating disorder behaviour between AT and NOT. To determine if group differences existed on measures of trait SPM an ANOVA was conducted. Results indicated that the NOT group experienced less FNE, PSC and SPA than the IN and AT groups, and the AT group experienced less FNE and PSC than the IN group. Pearson bivariate correlations were conducted on measures of trait SPM and EMI-2 subscales theoretically linked to SPM. It was found that FNE, PSC and SPA were all positively correlated with weight management for the NOT group. To determine if group differences existed on selfpresentational exercise motives independent samples I-tests were conducted. Results revealed that the AT group was more motivated to exercise for weight management, and appearance, and social recognition than the NOT group. To determine if group differences existed on the state measure of self-presentational efficacy a series of ANOVA's were conducted. Results revealed that the NOT group experienced significantly greater self-presentational efficacy expectancy and self-presentational outcome value than the AT group. Finally, a discriminant function analysis was conducted to determine if trait SPM would predict group membership. Results revealed that 63.4% of participants were correctly classified, with SPA, PSC, and FNE differentiating the NOT group from the AT and IN groups and FNE and PSC differentiating the AT group from the IN group. Thus self-presentation motivation appears to have an influence on females who have an eating disorder and those at risk for an eating disorder. Potential applications of the influence of self-presentational motives on eating disorders and future research directions are discussed.

Working memory in Alzheimer’s disease and mild cognitive impairment (MCI) : assessment and intervention

L’objectif principal de cette thèse est d’examiner et d’intervenir auprès des déficits de la mémoire de travail (MdeT) à l’intérieur de deux populations cliniques : la maladie d’Alzheimer (MA) et le trouble cognitif léger (TCL). La thèse se compose de trois articles empiriques. Le but de la première expérimentation était d’examiner les déficits de MdeT dans le vieillissement normal, le TCL et la MA à l’aide de deux versions de l’empan complexe : l’empan de phrases et l’empan arithmétique. De plus, l’effet de «l’oubli» (forgetting) a été mesuré en manipulant la longueur de l’intervalle de rétention. Les résultats aux tâches d’empan complexe indiquent que la MdeT est déficitaire chez les individus atteints de TCL et encore plus chez les gens ayant la MA. Les données recueillies supportent également le rôle de l’oubli à l’intérieur de la MdeT. L’augmentation de l’intervalle de rétention exacerbait le déficit dans la MA et permettait de prédire un pronostic négatif dans le TCL. L’objectif de la deuxième étude était d’examiner la faisabilité d’un programme d’entraînement cognitif à l’ordinateur pour la composante de contrôle attentionnel à l’intérieur de la MdeT. Cette étude a été réalisée auprès de personnes âgées saines et de personnes âgées avec TCL. Les données de cette expérimentation ont révélé des effets positifs de l’entraînement pour les deux groupes de personnes. Toutefois, l’absence d’un groupe contrôle a limité l’interprétation des résultats. Sur la base de ces données, la troisième expérimentation visait à implémenter une étude randomisée à double-insu avec groupe contrôle d’un entraînement du contrôle attentionnel chez des personnes TCL avec atteinte exécutive. Ce protocole impliquait un paradigme de double-tâche composé d’une tâche de détection visuelle et d’une tâche de jugement alpha-arithmétique. Alors que le groupe contrôle pratiquait simplement la double-tâche sur six périodes d’une heure chacune, le groupe expérimental recevait un entraînement de type priorité variable dans lequel les participants devaient gérer leur contrôle attentionnel en variant la proportion de ressources attentionnelles allouée à chaque tâche. Les résultats montrent un effet significatif de l’intervention sur une des deux tâches impliquées (précision à la tâche de détection visuelle) ainsi qu’une tendance au transfert à une autre tâche d’attention divisée, mais peu d’effets de généralisation à d’autres tâches d’attention. En résumé, les données originales rapportées dans la présente thèse démontrent un déficit de la MdeT dans les maladies neurodégénératives liées à l’âge, avec un gradient entre le TCL et la MA. Elles suggèrent également une préservation de la plasticité des capacités attentionnelles chez les personnes à risque de développer une démence.

Impact of the ego-dystonic nature of obsessions on treatment outcome in eating disorders

Il s'agit d'une hypothèse largement répandue que l’égo-dystonie et l’égo-syntonie caractérisent les obsessions dans les troubles des conduites alimentaires (TCA) et que ces facteurs sont cliniquement pertinents pour la conceptualisation et le traitement des TCA. Cependant, les résultats empiriques sur ce sujet sont rares. Compte tenu du chevauchement reconnu entre les TCA, notamment l'anorexie et la boulimie (BN), et le trouble obsessionnel-compulsif (TOC) dans la phénoménologie et les caractéristiques psychologiques, un programme de thérapie cognitive basée sur les inférences (TBI) de 24 semaines, démontré efficace dans le traitement des TOC, a été adapté pour traiter les TCA. La recherche sur le TOC suggère que la transformation des pensées intrusives en obsessions est liée à la mesure dans laquelle les pensées intrusives menacent des perceptions fondamentales du soi et de l’identité. Cette thèse a pour objectif d'examiner le lien entre l’égo-dystonie et les TCA. Pour se faire, nous avons exploré le lien entre la nature égo-dystone des obsessions chez les patients souffrant d'un TCA et la peur de l'image de soi. Nous avons également étudié la relation entre la sévérité des symptômes TCA et l’égo-dystonie dans les obsessions. En outre, nous avons investigué les différences dans la présence de pensées égo-dystones et de peur face à son identité entre des sujets non-cliniques et des personnes atteintes d’un TCA. Enfin, nous avons comparé le degré d’égo-dystonie dans les pensées de personnes atteintes d’un TCA à celui dans les pensées d’individus souffrant d’un TOC. L’égo-dystonie dans les pensées a été mesurée par l'Ego Dystonicity Questionnaire (EDQ) et le degré de peur face à l’identité a été mesuré par le Fear of Self Questionnaire (FSQ) d’une part dans un échantillon de femmes souffrant d’un TCA (n = 57) et d’autre part dans un échantillon de participantes non-cliniques (n = 45). Les résultats révèlent que l’égo-dystonie et la peur face à l’identité étaient fortement corrélées à la fois dans l’échantillon clinique et non-clinique. Les scores de l’EDQ n’étaient pas significativement corrélés à la sévérité des symptômes TCA à l'exception de la sous-échelle d’irrationalité de l’EDQ qui était fortement associée à la sévérité des comportements compulsifs compensatoires. Les participantes souffrant d'un TCA avaient des scores significativement plus élevés à l’EDQ et au FSQ que les sujets non-cliniques. Ensuite, une étude de cas décrit l’application du programme de thérapie cognitive TBI pour une femme de 35 ans avec un diagnostic de BN. La pathologie TCA s’est significativement améliorée au cours de la TBI et six mois suivant la thérapie. Cette étude de cas met en évidence l'importance de cibler les idées surévaluées, les doutes et le raisonnement face au soi et à l’identité dans le traitement psychologique pour les TCA. Enfin, l’objectif final de cette thèse était d’examiner les changements au niveau (1) des symptômes TCA, (2) du degré d’égo-syntonie dans les obsessions, et (3) des mesures de peur face à l’identité, de motivation, d’humeur et d’anxiété au cours de la TBI et au suivi post six mois. L’égo-dystonie, la peur face à l’identité, les symptômes TCA et le stade motivationnel ont été mesurés chez 15 femmes souffrant de BN au cours du traitement et six mois après la TBI. Quatre vingt pourcent de l’échantillon, soit 12 des 15 participantes, ont démontré une diminution cliniquement significative des symptômes TCA et 53% ont cessé leurs comportements compensatoires au suivi post six mois. Les retombées cliniques relatives au traitement des TCA sont discutées.

Treating delusional disorder : a comparison of cognitive-behavioural therapy and attention placebo control

Objective: Cognitive-behavioural therapy (CBT) has proved effective in treating delusions, both in schizophrenia and delusional disorder (DD). Clinical trials of DD have mostly compared CBT with either treatment as usual, no treatment, or a wait-list control. This current study aimed to assess patients with DD who received CBT, compared with an attention placebo control (APC) group. Method: Twenty-four individuals with DD were randomly allocated into either CBT or APC groups for a 24-week treatment period. Patients were diagnosed on the basis of structured clinical interviews for mental disorders and the Maudsley Assessment of Delusion Schedule (MADS). Results: Completers in both groups (n = 11 for CBT; n = 6 for APC) showed clinical improvement on the MADS dimensions of Strength of Conviction, Insight, Preoccupation, Systematization, Affect Relating to Belief, Belief Maintenance Factors, and Idiosyncrasy of Belief. Conclusion: When compared with APC, CBT produced more impact on the MADS dimensions for Affect Relating to Belief, Strength of Conviction, and Positive Actions on Beliefs.

Can we harness computerised cognitive bias modification to treat anxiety in schizophrenia? A first step highlighting the role of mental imagery

A new wave of computerised therapy is under development which, rather than simulating talking therapies, uses bias modification techniques to target the core psychological process underlying anxiety. Such interventions are aimed at anxiety disorders, and are yet to be adapted for co-morbid anxiety in psychosis. The cognitive bias modification (CBM) paradigm delivers repeated exposure to stimuli in order to train individuals to resolve ambiguous information in a positive, rather than anxiety provoking, manner. The current study is the first to report data from a modified form of CBM which targets co-morbid anxiety within individuals diagnosed with schizophrenia. Our version of CBM involved exposure to one hundred vignettes presented over headphones. Participants were instructed to actively simulate the described scenarios via visual imagery. Twenty-one participants completed both a single session of CBM and a single control condition session in counter-balanced order. Within the whole sample, there was no significant improvement on interpretation bias of CBM or state anxiety, relative to the control condition. However, in line with previous research, those participants who engage in higher levels of visual imagery exhibited larger changes in interpretation bias. We discuss the implications for harnessing computerised CBM therapy developments for co-morbid anxiety in schizophrenia.

Effect of psychological treatment on attentional bias in eating disorders

Objective: The aims of these studies were (a) to investigate the relationship between attentional bias and eating disorders and (b) examine the impact of psychological treatment on attentional bias. Method: The first study compared performance on a pictorial dot probe of 82 female patients with clinical eating disorders and 44 healthy female controls. The second study compared the performance of 31 patients with eating disorder on the same task before and after receiving 20 weeks of standardized cognitive behavior therapy. Twenty-four patients with eating disorder served as wait-list controls. Results: With the exception of neutral shape stimuli, attentional biases for eating, shape, and weight stimuli were greater in the patient sample than the healthy controls. The second study found that attentional biases significantly reduced after active treatment only. Conclusion: Attentional biases may be an expression of the eating disorder. The question of whether such biases warrant specific intervention requires further investigation. (C) 2008 by Wiley Periodicals, Inc.

A preliminary evaluation of cognitive-behaviour therapy for clinical perfectionism: a case series

Objective: The construct of 'clinical perfectionism' has been developed in response to criticisms that other approaches have failed to yield advances in the treatment of the type of self-oriented perfectionism that poses a clinical problem. The primary aim of this study was to conduct a preliminary investigation into the efficacy of a theory-driven, cognitive-behavioural intervention for 'clinical perfectionism'. Design. A multiple baseline single case series design was used. Method: A specific, 10-session cognitive-behavioural intervention to address clinical perfectionism in eating disorders was adapted to allow its use in nine patients referred with a range of axis I disorders and clinical perfectionism. Results: The intervention led to clinically significant improvements in self-referential perfectionism from pretreatment to follow-up for six of the nine participants on two perfectionism measures and for three of the nine participants on the measure of clinical perfectionism. Statistically significant improvements from pre- to post-intervention for the group as a whole were found on all three measures. The improvements were maintained at follow-up. Conclusions: The finding that clinical perfectionism is improved in the majority of participants is particularly encouraging given that perfectionism has traditionally been viewed as a personality characteristic resistant to change. These preliminary findings warrant replication in a larger study.

What does a transdiagnostic approach have to offer the treatment of anxiety disorders?

Purpose: The purpose of this paper is to review the rationale for 'transdiagnostic' approaches to the understanding and treatment of anxiety disorders. Methods: Databases searches and examination of the reference lists of relevant studies were used to identify papers of relevance. Results: There is increasing recognition that diagnosis-specific interventions for single anxiety-disorders are of less value than might appear since a large proportion of patients have more than one co-existing anxiety disorder and the treatment of one anxiety disorder does not necessarily lead to the resolution of others. As transdiagnostic approaches have the potential to address multiple co-existing anxiety disorders they are potentially more clinically relevant than single anxiety disorder interventions. They may also have advantages in ease of dissemination and in treating anxiety disorder not otherwise specified. Conclusions: The merits of the various transdiagnostic cognitive-behavioral approaches that have been proposed are reviewed. Such approaches have potential benefits, particularly in striking the balance between completely idiosyncratic formulations and diagnosis-driven treatments of anxiety disorders. However, caution is needed to ensure that transdiagnostic theories and treatments benefit from progress made by research on diagnosis-specific treatments, and further empirical work is needed to identify the shared maintaining processes that need to be targeted in the treatment of anxiety disorders.