Prader–Willi syndrome psychosocial profile in an Egyptian sample

Abstract

Background Maladaptive behaviors and cognitive impairment in patients with Prader–Willi Syndrome can affect long-term functioning of patients and their family. Understanding difficulties underlying the maladaptive behavior allow better management. Few or no studies were conducted on the psychological aspect of this syndrome in Egypt. Available studies world wide suggested that the main problem in this syndrome is cognitive and behavioral; tremendous improvement in clinical picture has been reported through early diagnosis and management. Objective The aim of the study was to evaluate the psychosocial behavioral deviations and the cognitive functions in a sample of Egyptian children with Prader–Willi syndrome. Patients and methods From a cross-sectional descriptive study conducted in the National Research Centre, we included 15 of the 72 patients of both sexes with age range of 5–15 years, fulfilling the diagnostic threshold of the modified list of Prader–Willi criteria. Detailed cytogenetic analysis was performed by conventional cytogenetic analysis of peripheral blood lymphocytes and fluorescent in-situ hybridization. Cognitive and psychological profile of all patients were assessed by: (a) Wechsler Intelligence Scale for Children, (b) Child Behavior Checklist for ages 4–18, (c) Conners’ Parent Rating Scale-Revised; long version, and (d) Childhood Autism Rating Scale. Results Patients had a mean age of 8 years (±2.19 SD). A total of 66.7% of the patients showed positive deletion, 100% of the patients were mentally subnormal, and 26.3% had autistic features. High prevalence of inattention, hyperactivity, anxiety, and social, cognitive, and behavioral problems were evident in the patients, with more frequency and severity in nondeletion patients. Conclusion Cognitive and psychological challenges are a fixed part of the Prader–Willi Syndrome patients’ profiles. Some differences were found within different genotypes of our study group.