EEG Patterns in Patients with Prader-Willi Syndrome

Abstract Prader-Willi syndrome (PWS) is a rare disease determined by the loss of the paternal copy of the 15q11-q13 region, characterized by hypotonia, hyperphagia and obesity, short stature, hypogonadism, craniofacial dysmorphisms, cognitive and behavioral disturbances. The aims of this retrospective study were to analyze interictal EEG findings in a group of PWS patients and to correlate them with genetic, clinical and neuroimaging data. Demographic, clinical, genetic, EEG, and neuroimaging data about seventy-four patients were collected. Associations between the presence of EEG paroxysmal abnormalities, genotype, clinical and neuroimaging features were investigated. Four patients (5.4%) presented a drug-sensitive epilepsy. Interictal EEG paroxysmal abnormalities, focal or multifocal, were present in 25.7% of the cases, and normalization of EEG occurred in about 25% of the cases. In 63.2% of the cases paroxysmal abnormalities were localized over the middle-posterior regions bilaterally. Brain magnetic resonance imaging (MRI) was performed in 39 patients (abnormal in 59%). No relevant associations were found between EEG paroxysmal abnormalities and all the other variables considered. Interictal EEG paroxysmal abnormalities, in particular with a bilateral middle-posterior localization, could represent an important neurological feature of PWS not associated with genotype, cognitive or behavior endophenotypes, MRI anomalies, or prognosis.