Long-term outcome of epilepsy in patients with Prader-Willi syndrome

Area of Science:

• Neurology
• Genetics
• Clinical Medicine

Background:

• Prader-Willi syndrome (PWS) is a complex genetic disorder with potential neurological complications.
• Epilepsy is a recognized comorbidity in PWS, yet detailed clinical and electroencephalographic (EEG) data are limited.
• Understanding epilepsy characteristics and long-term outcomes in PWS is crucial for patient management.

Purpose of the Study:

• To characterize seizure types, EEG patterns, and long-term seizure outcomes in patients with PWS and epilepsy.
• To investigate the influence of brain lesions on epilepsy characteristics and treatment response in PWS.
• To provide insights into the management and prognosis of epilepsy in this population.

Main Methods:

• Retrospective analysis of 38 patients diagnosed with PWS and epilepsy.
• Classification of patients into groups based on the presence (Group B) or absence (Group A) of brain lesions.
• Long-term follow-up (≥10 years) including seizure history, EEG findings, and neuroimaging results.

Main Results:

• Generalized epilepsy (55.2%) was more common than focal epilepsy (44.8%), with generalized tonic-clonic seizures being the most frequent type.
• Seizure freedom was achieved in 84.2% of patients, strongly associated with EEG normalization.
• Patients with brain abnormalities (Group B) exhibited a higher prevalence of drug-resistant epilepsy and a worse long-term outcome compared to those without lesions (Group A).

Conclusions:

• Epilepsy in Prader-Willi syndrome frequently presents with generalized seizures and typically has a favorable long-term outcome.
• Electroencephalographic normalization is a key indicator for achieving seizure freedom.
• The presence of brain lesions in PWS patients with epilepsy is associated with drug resistance and a less favorable prognosis, highlighting the importance of neuroimaging in treatment planning.