Background This study aimed to test the effect of a new training programme on emotional competencies, named EMO-T, and to show the value of an integrative developmental approach. This approach postulates that the emotion regulation disturbances commonly observed in neurodevelopmental disorders are the consequence of potential disruptions in the prerequisite emotion skills. This integrative approach is particularly suitable in the case of complex and multidimensional disorders such as Prader–Willi syndrome (PWS), a rare genetic disease. Methods We examined the emotion expression, recognition, comprehension, and regulation skills in 25 PWS children aged 5–10 and 50 typically developing children (TD) aged 3–10. After a pre-test session, half of the PWS children participated in the EMO-T programme with their regular therapist for 6 weeks, while the other half continued their usual rehabilitation programme. Two post-test sessions were conducted, one at the end of the programme and one 3 months later. Results At pre-test, PWS children displayed a deficit in the four emotional competencies (EC). PWS children who participated in the EMO-T programme showed a significant and sustainable post-test improvement regarding voluntary expression and emotion recognition abilities, such that the level reached was no longer different from the baseline level of TD children. They also tended to improve in their emotion regulation, although they received no specific training in this skill. Discussion These results support that emotion regulation abilities require prerequisite emotion skills, which should be more fully considered in current training programmes. Because emotion regulation disorders strongly impact all areas of life, an integrative developmental approach appears crucial especially in the case of neurodevelopmental disorders. Further studies should be conducted to explore this perspective.
Résumé Le Syndrome de Prader-Willi (SPW) est une maladie génétique rare impliquant des troubles hormonaux et neurodéveloppementaux. Les personnes qui en sont atteintes présentent également des difficultés émotionnelles et sociales. Les quelques études réalisées concernant le développement émotionnel dans cette population mettent en évidence un déficit dans l’identification et la compréhension des émotions, mais ces résultats sont trop lacunaires pour proposer une prise en charge adaptée des difficultés émotionnelles manifestées par ces enfants. L'objectif de cette étude interventionnelle est donc de mieux caractériser les difficultés émotionnelles des enfants avec le SPW en élaborant et testant l’effet d’un programme centré sur l’entraînement aux compétences émotionnelles proposé par l’un de leurs thérapeutes habituels, ce qui n’a jamais été réalisé auprès de cette population alors que la demande est importante. Vingt-deux enfants avec SPW âgés de 5 à 10 ans répartis sur le territoire national ont été inclus soit dans un groupe expérimental (qui bénéficie du programme), soit dans un groupe contrôle. Trois évaluations ont été effectuées à domicile : pré-test et post-tests immédiat et différé. Les résultats révèlent que le programme d’intervention proposé aux enfants du groupe expérimental leur a été bénéfique et leur a permis d’améliorer un certain nombre de compétences émotionnelles, notamment en production, en reconnaissance et en régulation. Au regard de ces résultats, les limites et intérêts de cette étude ainsi que les possibilités d’évolution du programme d’intervention sont discutés.
Prader-Willi syndrome (PWS) is a rare genetic disease that causes hormonal and neurodevelopmental disorders. People with PWS have social and emotional difficulties. The few available studies have shown deficits in emotion recognition or comprehension, but these results are not sufficiently precise to propose adapted assessment and interventions based on emotions. The aims of our research were to analyze the emotional deficits presented by children with PWS by developing and testing an intervention program on emotions conducted by the children’s regular therapists, which has never been done before in this population, whereas there are significant needs. Twenty-two 5 to 10-year-old children with PWS were included in experimental vs. control groups; children in the experimental group benefited from the intervention program established by their therapist. The three assessments were performed at home: pre-test and immediate and delayed post-tests. Results show that the intervention program was beneficial for children of the experimental group and enabled them to improve some emotion abilities such as emotional expression production, emotion recognition, and emotion regulation. These results will be discussed in the light of possibilities of enhancement of intervention programs.
Prader-Willi syndrome (PWS) is a rare multisystem genetic disease leading to severe complications mainly related to obesity. We strongly lack information on the natural history of this complex disease and on what factors are involved in its evolution and its outcome. One of the objectives of the French reference centre for Prader-Willi syndrome set-up in 2004 was to set-up a database in order to make the inventory of Prader-Willi syndrome cases and initiate a national cohort study in the area covered by the centre.the database includes medical data of children and adolescents with Prader-Willi syndrome, details about their management, socio-demographic data on their families, psychological data and quality of life of the parents. The tools and organisation used to ensure data collection and data quality in respect of good clinical practice procedures are discussed, and main characteristics of our Prader-Willi population at inclusion are presented.this database covering all the aspects of PWS clinical, psychological and social profiles, including familial psychological and quality of life will be a powerful tool for retrospective studies concerning this complex and multi factorial disease and could be a basis for the design of future prospective multicentric studies. The complete database and the Stata.do files are available to any researcher wishing to use them for non-commercial purposes and can be provided upon request to the corresponding author.
AbstractBackground: Oxytocin (OT) plays an important role in modulating behavior social interactions and feeding. Prader-Willi syndrome (PWS), a rare genetic neurodevelopmental disorder, is a model of hypothalamic disorder including OT dysfunction. We previously showed that infants with PWS who received an early short course (7 days) of intranasal OT treatment improved their oral and social skills. We aim to document long-term tolerance and effects of early intranasal OT treatment on the disease trajectory. We then performed a comparative clinical trial including the 17 children who received OT as infants in our previous study and compared them to 17 PWS non-exposed children at 3 to 4 years old. Primary endpoint was the total communication score on the Vineland adaptive behavior scale version II (VABS-II). Secondary endpoints were the other domains of VABS-II, behavior scored by Childhood Behavior Check-list, feeding skills, endocrine and metabolic issues, and brain connectivity on functional magnetic resonance imaging. Results: We documented long-term safety of early OT treatment. The VABS-II communication score was not different between the two groups defined as OT-exposed and non-exposed groups while a trend towards higher socialization score was found in the OT-exposed children (p=0.06). Circulating IGF-1 and HDL cholesterol were significantly higher in the OT-exposed group (p<0.05). OT-exposed children had normal acylated ghrelin levels which are lower than those observed in non-exposed children (p=0.06) and display higher connectivity of the orbitofrontal cortex brain region. Conclusion: Early OT treatment in infants with PWS is safe up to 3 to 4 years age. OT-exposed children display better social, endocrine and metabolic outcomes. This studydocuments for the first time in human the biological window of opportunity of early OT treatment that may change the trajectories of PWS condition. Trial Registration: Clinical trial NCT03081832 Retrospectively registered https://clinicaltrials.gov/search?cond=NCT03081832
Abstract Background People with Prader-Willi Syndrome (PWS) experience great difficulties in social adaptation that could be explained by disturbances in emotional competencies. However, current knowledge about the emotional functioning of people with PWS is incomplete. In particular, despite being the foundation of social adaptation, their emotional expression abilities have never been investigated. In addition, motor and cognitive difficulties - characteristic of PWS - could further impair these abilities. Method To explore the expression abilities of children with PWS, twenty-five children with PWS aged 5 to 10 years were assessed for 1) their emotional facial reactions to a funny video-clip and 2) their ability to produce on demand the facial and bodily expressions of joy, anger, fear and sadness. Their productions were compared to those of two groups of children with typical development, matched to PWS children by chronological age and by developmental age. The analyses focused on the proportion of expressive patterns relating to the target emotion and to untargeted emotions in the children’s productions. Results The results showed that the facial and bodily emotional expressions of children with PWS were particularly difficult to interpret, involving a pronounced mixture of different emotional patterns. In addition, it was observed that the emotions produced on demand by PWS children were particularly poor and equivocal. Conclusions As far as we know, this study is the first to highlight the existence of particularities in the expression of emotions in PWS children. These results shed new light on emotional dysfunction in PWS and consequently on the adaptive abilities of those affected in daily life.
Cette etude vise a decrire les caracteristiques psychologiques, cognitives et comportementales d’individus presentant un syndrome de Prader-Willi (SPW) au cours de la petite enfance et de l’enfance. La population est constituee de 36 enfants âges de 2,5 a 15 ans, suivis regulierement par le centre de reference du SPW. Trois etudes prospectives sont presentees. La premiere decrit la prise en charge et la scolarite de ces 36 enfants, leurs competences cognitives et leurs comportements adaptatifs ainsi que les comportements connus comme problematiques chez les adolescents et les adultes SPW. L’ensemble de ces donnees sont etudiees de facon comparative entre les enfants de moins de 5 ans et ceux de plus de 6 ans. Nos resultats apportent un eclairage nouveau sur les caracteristiques de ces jeunes enfants SPW qui sont, en de nombreux points, differentes des descriptions issues des etudes retrospectives. La seconde etude transversale decrit les aptitudes des 27 enfants de plus de 6 ans a apparier, denommer et attribuer des emotions. Leurs performances sont comparees a celles d’enfants typiques apparies sur l’âge de developpement et sur l’âge chronologique. Les resultats de cette etude pionniere montrent que les enfants SPW ont des competences heterogenes pour identifier les emotions, il existe a la fois un effet de l’emotion et un effet de la tâche. Enfin, la derniere etude presente les resultats d’un suivi longitudinal de 4 ans pour 10 enfants. Les competences cognitives et les comportements adaptatifs sont ici decrits dans leur evolution, en precisant l’emergence de certains troubles du comportement.
