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EEG Patterns in Patients with Prader-Willi Syndrome.
Maurizio Elia1, Irene Rutigliano2, Michele Sacco2
1Oasi Research Institute-IRCCS, 94018 Troina, Italy.
Brain Sciences
|August 27, 2021
Summary
Interictal EEG abnormalities are common in Prader-Willi syndrome (PWS), often bilateral and middle-posterior. These neurological findings in PWS are not linked to genetics, clinical issues, or brain imaging results.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Prader-Willi syndrome (PWS) is a genetic disorder caused by the loss of paternal genes on chromosome 15q11-q13.
- PWS is characterized by hypotonia, hyperphagia, obesity, short stature, hypogonadism, dysmorphisms, and cognitive/behavioral issues.
Purpose of the Study:
- To analyze interictal EEG findings in PWS patients.
- To correlate EEG abnormalities with genetic, clinical, and neuroimaging data.
Main Methods:
- Retrospective study of 74 PWS patients.
- Collected demographic, clinical, genetic, EEG, and neuroimaging data.
- Investigated associations between EEG abnormalities and other variables.
Main Results:
- 25.7% of patients had interictal paroxysmal EEG abnormalities (focal or multifocal).
- Epilepsy was present in 5.4% of cases.
- Abnormalities were predominantly bilateral and middle-posterior (63.2%).
- No significant associations found between EEG abnormalities and genotype, clinical features, MRI findings, or prognosis.
- Brain MRI was abnormal in 59% of 39 patients.
Conclusions:
- Interictal paroxysmal EEG abnormalities, especially bilateral middle-posterior, are a notable neurological feature in PWS.
- These EEG findings appear independent of genotype, cognitive/behavioral phenotypes, MRI anomalies, or prognosis.
