A disease specific questionnaire for assessing behavior in individuals with Prader-Willi syndrome.

Abstract Objective Prader–Willi syndrome (PWS) is a genetic multisystem disorder with various medical, cognitive, behavioral and psychiatric problems. PWS is caused by the lack of expression of paternal genes on chromosome 15q2-q13 due to a deletion (70–75%), uniparental disomy (25–30%) or imprinting center defect ( Methods The PWSBQ focuses on five major domains—abnormal emotional regulation, food-seeking related behavior, lack of flexibility, oppositional behavior and interpersonal problems and lastly body related behaviors. Caregivers of all Hebrew speaking individuals with PWS over the age of 12 years attending the Israeli national multidisciplinary PWS clinic were recruited. Of the 54 eligible individuals, 53 participated. They were interviewed with the PWSBQ and in addition filled the “Hyperphagia Questionnaire” and the “Child Behavioral Checklist” (CBCL). After verifying the questionnaire's content validity, all items on the PWSBQ were analyzed for internal reliability by calculating Cronbach's α. Criterion validity was evaluated by correlation testing with regard to the Hyperphagia Questionnaire and CBCL. In order to assess the questionnaire's interpretability, the correlation between the PWSBQ and the “Clinical Global Impression” (CGI) scores was evaluated. Results The PWSBQ total score was positively correlated with both the CBCL total score and the CGI score (0.662 and 0.549, p Conclusions Our findings suggest that the PWSBQ is a valid and reliable tool for the assessment of current behavioral problems among individuals with PWS. Although further research is needed in order to verify PWSBQ's ability to identify changes in the behavioral status of a given individual, it can now be used both in research and in a clinical setting, enabling the physician to plan the most suitable treatment based on the current behavioral status.