A pilot rating system to evaluate the quality of goal attainment scales used as outcome measures in rehabilitation.

Goal Attainment Scaling (GAS) is a method for writing person-centred approach evaluation scales that can be used as an outcome measure in clinical or research settings in rehabilitation. To be used in a research setting, it requires a high methodological quality approach. The aim of this study was to explore the feasibility and reliability of the GAS quality rating system, to ensure that GAS scales used as outcome measures are valid and reliable. Secondary objectives were: (1) to compare goal attainment scores' reliability according to how many GAS levels are described in the scale; and (2) to explore if GAS scorings are influenced by who scores goal attainment. The GAS scales analysed here were set collaboratively by 57 cognitively impaired adults clients and their occupational therapist. Goals had to be achieved within an inpatient one-month stay, during which clients participated in an intervention aimed at improving planning skills in daily life. The GAS quality rating system proved to be feasible and reliable. Regarding GAS scores, interrater reliability was higher when only three of the five GAS levels were described, i.e., "three milestone GAS" (0.74-0.92), than when all five levels were described (0.5-0.88), especially when scored by the clients (0.5 -0.88).

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

Interference 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.

Diabetes Mellitus in Prader-Willi Syndrome: Natural History during the Transition from Childhood to Adulthood in a Cohort of 39 Patients.

Type 2 diabetes mellitus (T2DM) affects 20% of patients with Prader-Willi syndrome (PWS), with many cases diagnosed during the transition period. Our aim was to describe the natural history of T2DM in patients with PWS before the age of 25 years and to develop screening and preventive strategies. Thirty-nine patients followed in the French PWS Reference Center were included (median age 25.6 years [23.7; 31.7]). Twenty-one had been treated with growth hormone (GH), fifteen had not, and three had an unknown status. The median age at T2DM diagnosis was 16.8 years (11-24) and the median BMI was 39 kg/m2 [34.6; 45], with 34/35 patients living with obesity. The patients displayed frequent psychiatric (48.3% hospitalization,) and metabolic (56.4% hypertriglyceridemia,) comorbidities and a parental history of T2DM (35.7%) or overweight (53.6%) compared to the PWS general population. There was no difference in BMI and metabolic complications between the GH-treated and non-GH-treated groups at T2DM diagnosis. Patients with PWS who develop early T2DM have severe obesity, a high frequency of psychiatric and metabolic disorders, and a family history of T2DM and overweight. These results underline the need for early identification of patients at risk, prevention of obesity, and repeated blood glucose monitoring during the transition period.

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.

Paradoxical low severity of COVID-19 in Prader-Willi syndrome: data from a French survey on 647 patients.

BACKGROUND: Patients with Prader-Willi syndrome (PWS) often have comorbidities, especially obesity, that may constitute a risk factor for severe forms of COVID-19. We aimed to assess prevalence and medical course of SARS-CoV-2 infection in children and adults with PWS. From November 2020 to January 2021, we performed a detailed medical survey on 342 adults and 305 children with PWS followed in the French reference center. RESULTS: We obtained responses from 288 adults (84%) and 239 children (78%). From March 2020 to January 2021, 38 adults (13.2%) and 13 children (5.4%) with PWS had SARS-CoV-2 infection. Mean age of adults was 34.1 ± 11.9 years and mean body mass index was 40.6 ± 12.7 kg/m2; 82% had obesity and 37% had diabetes. Only 3 children (23%) had obesity and none had diabetes. Similar to the general population, the most frequent symptoms of COVID-19 were asthenia, fever, cough, headache and shortness of breath. All patients had a favorable outcome. CONCLUSION: PWS itself is not a risk factor for severe COVID-19 in children and adults. On the contrary, evolution of SARS-CoV-2 infection in adults with PWS seems more favorable than expected, given their comorbidities.

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.

A model to characterize psychopathological features in adults with Prader-Willi syndrome.

High prevalence of behavioral and psychiatric disorders in adults with Prader-Willi Syndrome (PWS) has been reported in last few years. However, data are confusing and often contradictory. In this article, we propose a model to achieve a better understanding of the psychopathological features in adults with PWS. The study is based on clinical observations of 150 adult inpatients, males and females. Non-parametric statistics were performed to analyse the association of psychopathological profiles with genotype, gender and age. We propose a model of psychiatric disorders in adults with PWS based on cognitive, emotional and behavioural issues. This model defines four psychopathological profiles: Basic, Impulsive, Compulsive, and Psychotic. The Basic profile is defined by traits and symptoms that are present in varying degrees in all persons with PWS. In our cohort, this Basic profile corresponds to 55% of the patients. The rest show, in addition to these characteristics, salient features of impulsivity (Impulsive profile, 19%), compulsivity (Compulsive profile, 7%), or psychosis (Psychotic profile, 19%). The analysis of factors associated with different profiles reveals an effect of genotype on Basic and Psychotic profiles (Deletion: 70% Basic, 9% Psychotic; Non-deletion: 23% Basic, 43% Psychotic) and a positive correlation between male sex and impulsivity, unmediated by sex hormone treatment. This is a clinical study, based on observation proposing an original model to understand the psychiatric and behavioural disorders in adults with PWS. Further studies are needed in order to test the validity of this model.

Optimization of the use of B-type natriuretic peptide levels for risk stratification at discharge in elderly patients with decompensated heart failure.

BACKGROUND: In elderly patients hospitalized for decompensated heart failure, B-type natriuretic peptide (BNP) levels at discharge and the change in BNP during hospitalization may provide different information and may need to be taken into account simultaneously to best reflect the response to therapy. The aim of this study was to determine whether the most accurate risk stratification is obtained using BNP level after stabilization on treatment, the change in BNP under optimal treatment, or a combination of both markers. METHODS: This prospective cohort study included 157 consecutive patients aged >or=70 (mean, 83 years), hospitalized for decompensated heart failure. Clinical, radiologic, biologic, and ultrasonography data were collected on admission and at discharge. RESULTS: The median BNP level on admission was 1,057 pg/mL, and the mean change during hospitalization was -42%. Cardiac death or readmission were independently predicted by both predischarge BNP (best threshold: >360 pg/mL, HR 3.35 [1.94-5.75]) and the change in BNP levels (best threshold: -50%, HR 2.52 [1.59-4.01]). The highest event rate was observed in patients with both a predischarge BNP >or=360 pg/mL and a decrease <50% during hospitalization (HR 5.97 [2.98-11.94] compared with patients with a predischarge BNP <360 pg/mL and a decrease >or=50%, after adjustment for potential confounders). The remaining patients constituted an intermediate risk group (HR 3.13 [1.44-6.77]). CONCLUSION: Predischarge BNP and inhospital BNP change should not be interpreted independently from each other. The highest risk group includes patients with a high predischarge BNP level corresponding to more than the half of the BNP on admission. These patients would benefit from close monitoring for signs of decompensation.