EEG Patterns in Patients with Prader–Willi Syndrome

Brain Sciences

Giuliana Trifirò¹  Malgorzata Wasniewska²  Alessandra Li Pomi²  Paolo Di Bella³  Silvana De Lucia⁴  Maurizio Delvecchio⁵  Luigi Vetri⁶  Maurizio Elia⁶  Irene Rutigliano⁷  Michele Sacco⁷  Lorenzo Iughetti⁸  Simona F. Madeo⁸ 

[1] Cardiogenetic and Vascular Center, IRCCS Policlinico San Donato Milanese, 20097 Milan, Italy;Department of Human Pathology of the Adult and of the Developmental Age “Gaetano Barresi”, University of Messina, 98124 Messina, Italy;Division of Child Neurology and Psychiatry, “G. Martino” Hospital, University of Messina, 98124 Messina, Italy;I-Motion-Pediatric Clinical Trials Department, Trousseau Hospital, 75012 Paris, France;Metabolic Diseases and Genetics Unit, Giovanni XXIII Children’s Hospital, 70126 Bari, Italy;Oasi Research Institute-IRCCS, 94018 Troina, Italy;Pediatric Unit, Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, Italy;Pediatric Unit, Department of Medical and Surgical Sciences of Mother, Children and Adults, University of Modena and Reggio, 41124 Modena, Italy;

关键词: EEG;    Prader–Willi syndrome;    wakefulness;    sleep;    epilepsy;    genetics;   

DOI  :  10.3390/brainsci11081045

来源: DOAJ

【 摘 要 】

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

【 授权许可】

Unknown