Improvement of Planning Abilities in Adults with Prader-Willi Syndrome: A Randomized Controlled Trial

Prader-Willi Syndrome (PWS) is a neurodevelopmental genetic disorder with executive deficits. Planning is one of the impaired executive functions implied in the regulation of behavior and everyday actions. We aimed to explore the feasibility and the effectiveness of a metacognitive strategy training designed to improve planning in adults with PWS using a double-blind between-group (training versus usual care) randomized controlled trial, with computerized tests and paper-pencil ecological outcome measures targeting planning, other executive functions, and achievement of personalized goal. Results showed better performances in several executive tasks and in achievement of personalized goals after both interventions, but better improvement for the experimental group (n = 27) compared to control (n = 26) only on the task assessing planning abilities. Interviews with occupational therapists demonstrated the feasibility of this training with this population. Despite a small number of sessions, the metacognitive strategy training showed encouraging results on planning abilities of patients

Study of the deficit in planning abilities of adults with Prader-Willi Syndrome

Background: Prader-Willi syndrome (PWS) is a complex developmental genetic disorder associated with intellectual disability and deficits in executive functions which result in disorganisation and poor personal autonomy. Aims: This study aimed to determine impairments in planning skills of adults with PWS, in relation with their intellectual disabilities, as well as the influence of food compulsions on their performance. Methods and procedures: A modified version of the Zoo Map from the Behavioural Assessment of the Dysexecutive Syndrome was used in three groups: a group of adults with PWS in comparison with two groups both matched on chronological age, one with typical development (TD) and one with intellectual disability (ID). Outcomes and results: Compared to TD adults, both adults with PWS and ID showed increased planning time and lower raw scores on the planning task. The execution time and the number of errors were higher in the PWS group compared to the comparison groups. All three groups performed worse in the non-food condition only for number of errors and raw score. Conclusions and implications: Planning abilities were impaired in PWS adults. Results also showed that intellectual level plays a role in participants’ performance. These findings are essential to understand the difficulties of people with PWS daily life

Oxytocin may be useful to increase trust in others and decrease disruptive behaviours in patients with Prader-Willi syndrome: a randomised placebo-controlled trial in 24 patients

<p>Abstract</p> <p>Background</p> <p>Prader-Willi syndrome (PWS) is a complex neurodevelopmental genetic disorder with hypothalamic dysfunction, early morbid obesity with hyperphagia, and specific psychiatric phenotypes including cognitive and behavioural problems, particularly disruptive behaviours and frequent temper outbursts that preclude socialization. A deficit in oxytocin (OT)-producing neurons of the hypothalamic paraventricular nucleus has been reported in these patients.</p> <p>Methods</p> <p>In a double-blind, randomised, placebo-controlled study, 24 adult patients with PWS received a single intranasal administration of 24 IU of OT or placebo and were tested 45 min later on social skills. Behaviours were carefully monitored and scored using an in-house grid as follows: over the two days before drug administration, on the half-day following administration, and over the subsequent two days. All patients were in a dedicated PWS centre with more than ten years of experience. Patients are regularly admitted to this controlled environment.</p> <p>Results</p> <p>Patients with PWS who received a single intranasal administration of OT displayed significantly increased trust in others (P = 0.02) and decreased sadness tendencies (P = 0.02) with less disruptive behaviour (P = 0.03) in the two days following administration than did patients who received placebo. In the half-day following administration, we observed a trend towards less conflict with others (p = 0.07) in the OT group compared with the placebo group. Scores in tests assessing social skills were not significantly different between the two groups.</p> <p>Conclusions</p> <p>This study needs to be reproduced and adapted. It nevertheless opens new perspectives for patients with PWS and perhaps other syndromes with behavioural disturbances and obesity.</p> <p>Trial registration number</p> <p>ClinicalTrials.gov: <a href="http://www.clinicaltrials.gov/ct2/show/NCT01038570">NCT01038570</a></p

Behavioral profile of adults with Prader-Willi syndrome: correlations with individual and environmental variables

Background: Maladaptive behavior has been reported as a phenotypical feature in Prader–Willi syndrome (PWS). It severely limits social adaptation and the quality of life of children and adults with the syndrome. Different factors have been linked with the intensity and form of these behavioral disturbances but there is no consensus about the cause. Consequently, there is still controversy regarding management strategies and there is a need for new data. Methods: The behavior of 100 adults with PWS attending a dedicated center was assessed using the Developmental Behavior Checklist for Adults (DBC-A) and the PWS-specific Hyperphagia Questionnaire. The DBC-A was completed separately by trained caregivers at the center and relatives or caregivers in a natural setting. Genotype, gender, age, degree of obesity and cognitive impairment were analyzed as variables with a hypothetical influence on behavioral features. Results: Patients showed a relatively high rate of behavioral disturbances other than hyperphagia. Disruptive and social relating were the highest scoring DBC-A subscales whereas anxiety/antisocial and self-absorbed were the lowest. When hospital caregiver and natural caregiver scores were compared, scores for the latter were higher for all subscales except for disruptive and anxiety/antisocial. These effects of institutional management were underlined. In the DBC-A, 22 items have descriptive indications of PWS behavior and were used for further comparisons and correlation analysis. In contrast to previous reports, rates of disturbed behavior were lower in patients with a deletion genotype. However, the behavioral profile was similar for both genotypes. No differences were found in any measurement when comparing type I and type II deletions. The other analyzed variables showed little relevance. Conclusions: Significant rates of behavioral disorders were highlighted and their typology described in a large cohort of adults with PWS. The deletion genotype was related to a lower severity of symptoms. Some major behavioral problems, such as hyperphagia, may be well controlled if living circumstances are adapted to the specific requirements of individuals with PWS

Investigation of the relationship between electrodermal and behavioural responses to executive tasks in Prader-Willi syndrome: An event-related experiment

Background: Recent work suggests that maladaptive behaviors in genetic developmental disorders may emerge from autonomic dysfunctions impacting higher order executive functions. In Prader-Willi syndrome (PWS), executive functions are not well understood and investigations of possible underlying causes at the autonomic level are lacking. Aims: This study aimed at clarifying the status of inhibition and working memory updating functions in PWS and searched for sympathetic signatures as well as to examine their links with executive performance. Methods and Procedures: The performance of thirty adults with PWS was compared to that of thirty healthy adults on two tasks assessing inhibition and working memory updating while electrodermal activity (EDA) was recorded. Outcomes and Results: PWS adults underperformed healthy adults in the inhibition and the working memory updating tasks and showed abnormal skin conductance responses. Distinct EDA have been found in PWS and healthy adults. Furthermore, while EDA reflected distinct cognitive processes, correlations between electrodermal and behavioural data were absent when examining the two groups separately. Conclusions and Implications: PWS is associated with a slight impairment of inhibition and a severe impairment of working memory updating. Furthermore, there are specific sympathetic autonomic signatures in PWS that do not present straightforward links with executive dysfunctions

Executive Functions and Prader-Willi Syndrome: Global Deficit Linked With Intellectual Level and Syndrome-Specific Associations

The aim of this study was to support the growing evidence suggesting that Prader-Willi Syndrome (PWS) might present with an impairment of executive functions (EFs) and to investigate whether this impairment is specific to patients with PWS or due to their intellectual disability (ID). Six tasks were administered to assess EFs (inhibition, switching, updating, cognitive estimation, and planning) to 17 patients with PWS and 17 age-matched healthy individuals. Performance was significantly impaired in the PWS group on all EFs and after controlling for IQ level, intergroup differences remained only for switching and cognitive estimation. In conclusion, PWS seems to be associated with a global impairment of EFs that appears to be closely linked with intellectual impairment but also with the PWS itself

Cognitive Training Targeting Planning Dysfunction in Adults with Prader-Willi Syndrome: Brief Report of a Study Protocol

Background: Prader-Willi syndrome (PWS) is a neurodevelopmental genetic disorder involving executive deficits notably with planning. The main objective of the study is to assess the effectiveness of cognitive training on daily life planning difficulties in PWS patients. Methods/design: The study is a double-blind randomized controlled trial which will compare the effectiveness of a metacognitive strategy intervention designed to improve planning difficulties for PWS patients to usual occupational therapy. Sixty adults will be included over 20 months. The main outcome measure will be the performance on the Modified Six Elements Test from the BADS; secondary outcome measures will be computerized executive tasks and questionnaires. Daily life planning difficulties will be identified and transformed into measurable goals using Goal Attainment Scaling. Discussion: The project will provide knowledge on the difficulties experienced by PWS patients, in relation to their executive functioning in order to implement effective intervention for planning in daily life

Behavioral profile of adults with Prader-Willi syndrome : correlations with individual and environmental variables

Background: Maladaptive behavior has been reported as a phenotypical feature in Prader–Willi syndrome (PWS). It severely limits social adaptation and the quality of life of children and adults with the syndrome. Different factors have been linked with the intensity and form of these behavioral disturbances but there is no consensus about the cause. Consequently, there is still controversy regarding management strategies and there is a need for new data. Methods: The behavior of 100 adults with PWS attending a dedicated center was assessed using the Developmental Behavior Checklist for Adults (DBC-A) and the PWS-specific Hyperphagia Questionnaire. The DBC-A was completed separately by trained caregivers at the center and relatives or caregivers in a natural setting. Genotype, gender, age, degree of obesity and cognitive impairment were analyzed as variables with a hypothetical influence on behavioral features. Results: Patients showed a relatively high rate of behavioral disturbances other than hyperphagia. Disruptive and social relating were the highest scoring DBC-A subscales whereas anxiety/antisocial and self-absorbed were the lowest. When hospital caregiver and natural caregiver scores were compared, scores for the latter were higher for all subscales except for disruptive and anxiety/antisocial. These effects of institutional management were underlined. In the DBC-A, 22 items have descriptive indications of PWS behavior and were used for further comparisons and correlation analysis. In contrast to previous reports, rates of disturbed behavior were lower in patients with a deletion genotype. However, the behavioral profile was similar for both genotypes. No differences were found in any measurement when comparing type I and type II deletions. The other analyzed variables showed little relevance. Conclusions: Significant rates of behavioral disorders were highlighted and their typology described in a large cohort of adults with PWS. The deletion genotype was related to a lower severity of symptoms. Some major behavioral problems, such as hyperphagia, may be well controlled if living circumstances are adapted to the specific requirements of individuals with PWS

Interference effect of food and emotional stimuli in Stroop-like tasks for children and adults with Prader-Willi Syndrome

International audienceInterference effect of food and emotional stimuli in Stroop-like tasks for children and adults with Prader-Willi Syndrome. The aim of this work was to study the way items related to food or emotion are processed by a population known to have difficulties with dietary restriction, namely individuals with Prader-Willi Syndrome (PWS). Given the presence of intellectual disability (ID) in PWS, our experiments were designed to examine whether these difficulties were specific to PWS or linked with their ID. Two modified Stroop tasks (i.e., a food version and an emotional version) were administered to seventy-four children (aged between 6 and 16 years old) divided into three groups (one with PWS, one with ID matched on age and Intellectual Quotient (IQ), and one healthy group matched on age) and to eighty-four adults (aged between 18 and 48 years old) distributed in the same three groups. For both tasks, a picture version was used for the children and a word version for the adults. For the food Stroop task, (Experiment 1), materials were composed of low or high-caloric food items and stimuli not related to food. The results show a food Stroop effect for children and adults with PWS that was absent in the group of healthy participants. Moreover, a food Stroop effect was also significant for adults with ID. For the emotional Stroop task (Experiment 2), materials were composed of negative, positive and neutral stimuli. The emotional Stroop effect was also obtained for children and adults with PWS as well as for the healthy group, but not for the age- and IQ-matched group. For the PWS groups, results show a preservation to process positive pictures for children and difficulties to process negative stimuli for both age-groups. These results suggest that people with PWS have difficulties in disengaging their attention when food stimuli are present in their environment and poorer abilities to process negative ones. These difficulties endure in adulthood