EEG Patterns in Patients with Prader–Willi Syndrome
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 retrospec...
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MDPI AG
2021-08-01
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| Series: | Brain Sciences |
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| Online Access: | https://www.mdpi.com/2076-3425/11/8/1045 |
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| author | Maurizio Elia Irene Rutigliano Michele Sacco Simona F. Madeo Malgorzata Wasniewska Alessandra Li Pomi Giuliana Trifirò Paolo Di Bella Silvana De Lucia Luigi Vetri Lorenzo Iughetti Maurizio Delvecchio |
| author_facet | Maurizio Elia Irene Rutigliano Michele Sacco Simona F. Madeo Malgorzata Wasniewska Alessandra Li Pomi Giuliana Trifirò Paolo Di Bella Silvana De Lucia Luigi Vetri Lorenzo Iughetti Maurizio Delvecchio |
| author_sort | Maurizio Elia |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-10T08:58:50Z |
| format | Article |
| id | doaj.art-d0ba0dd4177749e89e316604d724781e |
| institution | Directory Open Access Journal |
| issn | 2076-3425 |
| language | English |
| last_indexed | 2024-03-10T08:58:50Z |
| publishDate | 2021-08-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Brain Sciences |
| spelling | doaj.art-d0ba0dd4177749e89e316604d724781e2023-11-22T06:59:18ZengMDPI AGBrain Sciences2076-34252021-08-01118104510.3390/brainsci11081045EEG Patterns in Patients with Prader–Willi SyndromeMaurizio Elia0Irene Rutigliano1Michele Sacco2Simona F. Madeo3Malgorzata Wasniewska4Alessandra Li Pomi5Giuliana Trifirò6Paolo Di Bella7Silvana De Lucia8Luigi Vetri9Lorenzo Iughetti10Maurizio Delvecchio11Oasi Research Institute-IRCCS, 94018 Troina, ItalyPediatric Unit, Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, ItalyPediatric Unit, Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, ItalyPediatric Unit, Department of Medical and Surgical Sciences of Mother, Children and Adults, University of Modena and Reggio, 41124 Modena, ItalyDepartment of Human Pathology of the Adult and of the Developmental Age “Gaetano Barresi”, University of Messina, 98124 Messina, ItalyDepartment of Human Pathology of the Adult and of the Developmental Age “Gaetano Barresi”, University of Messina, 98124 Messina, ItalyCardiogenetic and Vascular Center, IRCCS Policlinico San Donato Milanese, 20097 Milan, ItalyDivision of Child Neurology and Psychiatry, “G. Martino” Hospital, University of Messina, 98124 Messina, ItalyI-Motion-Pediatric Clinical Trials Department, Trousseau Hospital, 75012 Paris, FranceOasi Research Institute-IRCCS, 94018 Troina, ItalyPediatric Unit, Department of Medical and Surgical Sciences of Mother, Children and Adults, University of Modena and Reggio, 41124 Modena, ItalyMetabolic Diseases and Genetics Unit, Giovanni XXIII Children’s Hospital, 70126 Bari, ItalyPrader–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.https://www.mdpi.com/2076-3425/11/8/1045EEGPrader–Willi syndromewakefulnesssleepepilepsygenetics |
| spellingShingle | Maurizio Elia Irene Rutigliano Michele Sacco Simona F. Madeo Malgorzata Wasniewska Alessandra Li Pomi Giuliana Trifirò Paolo Di Bella Silvana De Lucia Luigi Vetri Lorenzo Iughetti Maurizio Delvecchio EEG Patterns in Patients with Prader–Willi Syndrome Brain Sciences EEG Prader–Willi syndrome wakefulness sleep epilepsy genetics |
| title | EEG Patterns in Patients with Prader–Willi Syndrome |
| title_full | EEG Patterns in Patients with Prader–Willi Syndrome |
| title_fullStr | EEG Patterns in Patients with Prader–Willi Syndrome |
| title_full_unstemmed | EEG Patterns in Patients with Prader–Willi Syndrome |
| title_short | EEG Patterns in Patients with Prader–Willi Syndrome |
| title_sort | eeg patterns in patients with prader willi syndrome |
| topic | EEG Prader–Willi syndrome wakefulness sleep epilepsy genetics |
| url | https://www.mdpi.com/2076-3425/11/8/1045 |
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