Epilepsy in Prader-Willi syndrome: clinical characteristics and related analysis

Objective To analyze the incidence and clinical characteristics of epilepsy in children with Prader-Willi syndrome (PWS), and to explore the relationship with genotype. Methods Ninety-five children with PWS were chosen from Department of Pediatric Neurology in Shengjing Hospital of China Medical University during 2008 to 2018.The general information of all children included in the study were collected and analyzed at the same time.At first, 95 children with PWS were divided into two groups according to epilepsy or not(epilepsy group 23 cases and non-epilepsy group 72 cases), the relationship between incidence of epilepsy and genotype or gender was analyzed.Furthermore, 23 PWS children with epilepsy were divided into two groups according to genotype: paternal 15q11-13 region deletion genotype group (20 cases) and maternal uni-parental disomy(UPD) group (3 cases), then the relationship between clinical characteristics and genotype was analyzed. Results A retrospective analysis of 95 patients with PWS found that the proportion of deletion in 15q11-13 was significantly higher in the epilepsy group than that in the non-epilepsy group, and the difference was statistically significant (87.0% vs.56.9%, χ2=6.832, P=0.009), while there was no statistical difference in gender (χ2=0.603, P=0.437). Among the 23 PWS children with epilepsy, 18 cases (78.2%) were generalized epilepsy, and 5 cases (21.8%) were focal epilepsy.The proportion of generalized epilepsy of deletion genotype group was higher than UPD group, and there was statistical difference(85.0% vs.33.3%, P 0.05). The effective epilepsy control rate was 91.3% in 23 children with epilepsy. Conclusion PWS children have a higher incidence of epilepsy, which can manifest with generalized features.PWS patients with a deletion genotype in paternal 15q11-13 region show a trend toward developing seizures, especially generalized epilepsy.But the seizure onset age and seizure frequency have no correlation with genotype.There is a good prognosis in most PWS with epilepsy. Key words: Prader-Willi syndrome; Epilepsy; Clinical characteristics; Genotype