Compulsions in Prader-Willi syndrome: Occurrence and severity as a function of genetic subtype

Ramon Novell-Alsina, Susanna Esteba-Castillo, Asumpta Caixàs, Elisabeth Gabau, Olga Giménez-Palop, Jesus Pujol, Joan Deus, David Torrents-Rodas

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7 Citations (Scopus)


© 2019 STM Editores S.A. All rights reserved. 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.
Original languageEnglish
Pages (from-to)79-87
JournalActas Espanolas de Psiquiatria
Publication statusPublished - 1 Jan 2019


  • Compulsive Behavior
  • Gene Deletion
  • Prader-Willi Syndrome
  • Uniparental Disomy


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