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Compulsions in Prader-Willi syndrome: occurrence and severity as a function of genetic subtype
Ramon Novell-Alsina1, Susanna Esteba-Castillo1, Asumpta Caixàs2
1Specialized 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.
Insights
Compulsive behaviors in Prader-Willi syndrome (PWS) vary by genetic cause. Individuals with maternal disomy show fewer compulsions, while type II deletion is linked to more severe behaviors.
Area of Science:
- Genetics
- Neuroscience
- Behavioral Science
Background:
- Compulsive behaviors are common in Prader-Willi syndrome (PWS).
- PWS is typically caused by paternal deletion in 15q11-q13 or maternal uniparental disomy.
- Understanding genetic subtypes is crucial for PWS management.
Purpose of the Study:
- To investigate compulsive behaviors in adults with PWS.
- To analyze differences in compulsions based on genetic subtypes (deletion types I and II, maternal disomy).
Main Methods:
- Genetic testing to determine PWS subtype in 27 participants.
- Utilized Yale-Brown Obsessive Compulsive Scale, Compulsive Behavior Checklist, and Repetitive Behavior Questionnaire.
- Assessed the occurrence and severity of compulsive behaviors.
Main Results:
- Most PWS participants exhibited compulsive behaviors, primarily skin picking and hoarding.
- Compulsions were less frequent in the maternal disomy group compared to deletion groups.
- Severe compulsions were more prevalent in individuals with type II deletion.
Conclusions:
- PWS genetic subtypes influence the occurrence and severity of compulsive behaviors.
- Maternal disomy is associated with a reduced burden of compulsive behaviors.
- Further research is needed on deletion types and compulsion severity due to conflicting prior studies.
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.
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