Ramon Novell-Alsina1, Susanna Esteba-Castillo1, Asumpta Caixàs2, Elisabeth Gabau3, Olga Giménez-Palop2, Jesus Pujol4, Joan Deus5, David Torrents-Rodas6. 1. Specialized Service in Mental Health and Intellectual Disability (SESM-DI), and Girona Biomedical Research Institute (IdibGi), Parc Hospitalari Martí i Julià, Institut d´Assistència Sanitària, Salt (Girona), Spain. 2. Department of Endocrinology and Nutrition, Parc Taulí Hospital Universitari, and Universitat Autònoma de Barcelona, Sabadell (Barcelona), Spain. 3. Pediatric Endocrinology Unit, Parc Taulí Hospital Universitari, Sabadell (Barcelona), Spain. 4. MRI Research Unit, Department of Radiology, CIBERSAM G21, Hospital del Mar, Barcelona, Spain. 5. MRI Research Unit, Department of Radiology, CIBERSAM G21, Hospital del Mar, Barcelona, Spain Department of Health and Clinical Psychology, Universitat Autònoma de Barcelona, Bellaterra (Barcelona), Spain. 6. Specialized Service in Mental Health and Intellectual Disability (SESM-DI), and Girona Biomedical Research Institute (IdibGi), Parc Hospitalari Martí i Julià, Institut d´Assistència Sanitària, Salt (Girona), Spain Department of Psychology, Philipps-Universität Marburg, Marburg, Germany.
Abstract
INTRODUCTION: Compulsions are among the most typical behaviors in Prader-Willi syndrome (PWS). The most frequent causes of PWS are deletion of the genes located in the segment 15q11-q13 of the paternal allele and maternal uniparental disomy of cromosome 15. The aim of the present work was to study compulsive behavior in a sample of adults with PWS and analyze potential differences as a function of the genetic cause/subtype. MATERIAL AND METHODS: In the 27 study participants, existence of type I deletion (n=7), type II deletion (n=13), and maternal disomy (n=7) was determined by means of genetic tests. The Yale-Brown Obsessive Compulsive Scale, the Compulsive Behavior Checklist, and the Repetitive Behavior Questionnaire were used to assess occurrence and severity of compulsions. RESULTS: Most of the participants showed compulsive behavior, the most frequent compulsions were those of inappropriate grooming (skin picking) and order (hoarding). The occurrence of compulsions was less frequent in the maternal disomy group than in the deletion groups. Severe compulsions were more frequent in those participants with type II deletion than in the other groups. CONCLUSIONS: Differences in occurrence and severity of compulsions exist as a function of PWS genetic subtype. Our results support the idea that individuals with maternal disomy are less affected by compulsive behavior. More research on the severity of compulsions as a function of deletion type should be done, as the studies conducted so far have shown contradictory results.
INTRODUCTION: Compulsions are among the most typical behaviors in Prader-Willi syndrome (PWS). The most frequent causes of PWS are deletion of the genes located in the segment 15q11-q13 of the paternal allele and maternal uniparental disomy of cromosome 15. The aim of the present work was to study compulsive behavior in a sample of adults with PWS and analyze potential differences as a function of the genetic cause/subtype. MATERIAL AND METHODS: In the 27 study participants, existence of type I deletion (n=7), type II deletion (n=13), and maternal disomy (n=7) was determined by means of genetic tests. The Yale-Brown Obsessive Compulsive Scale, the Compulsive Behavior Checklist, and the Repetitive Behavior Questionnaire were used to assess occurrence and severity of compulsions. RESULTS: Most of the participants showed compulsive behavior, the most frequent compulsions were those of inappropriate grooming (skin picking) and order (hoarding). The occurrence of compulsions was less frequent in the maternal disomy group than in the deletion groups. Severe compulsions were more frequent in those participants with type II deletion than in the other groups. CONCLUSIONS: Differences in occurrence and severity of compulsions exist as a function of PWS genetic subtype. Our results support the idea that individuals with maternal disomy are less affected by compulsive behavior. More research on the severity of compulsions as a function of deletion type should be done, as the studies conducted so far have shown contradictory results.
Authors: Anna G W Rosenberg; Charlotte M Wellink; Juan M Tellez Garcia; Karlijn Pellikaan; Denise H Van Abswoude; Kirsten Davidse; Laura J C M Van Zutven; Hennie T Brüggenwirth; James L Resnick; Aart J Van der Lely; Laura C G De Graaff Journal: J Clin Med Date: 2022-07-12 Impact factor: 4.964