Characterization of Clinical, Radiological and Electro-encephalographic Features of Patients with Absence Epilepsy At Ain Shams University Hospital Clinics
W skrócie
[Preprint - wstępne wyniki] Badanie przeprowadzone na 60 egipskich pacjentach z epilepsją nieobecności wykazało, że większość chorych miała typowe napady krótkie (3-10 sekund), podczas których utraty świadomości towarzyszyły zaburzenia behawioralne. W elektroencefalogramie u około dwóch trzecich pacjentów stwierdzono charakterystyczne dla tej epilepsji anomalie, zaś rezonans magnetyczny mózgu był prawidłowy u zdecydowanej większości. Ponad jedna trzecia pacjentów wykazała zaburzenia funkcji poznawczych, co wskazuje na konieczność systematycznego badania rozwoju umysłowego u chorych z epilepsją nieobecności.
Oryginalny abstract (angielski)
Abstract Background : Absence epilepsy is a common generalized epilepsy syndrome characterized by brief impairment of consciousness and characteristic electroencephalographic findings include abrupt and brief lapses in awareness, lasting 3–10 seconds . Data regarding the clinical and radiological characteristics of Egyptian patients with absence epilepsy remain limited. This study is to describe the semiological, electroencephalographic, radiological, and cognitive features of Egyptian patients diagnosed with absence epilepsy attending Ain Shams University Hospitals. Methods : This observational descriptive cross-sectional study included 60 patients diagnosed with absence epilepsy between September 2024 and March 2025 at the epilepsy and pediatric neurology outpatient clinics of Ain Shams University Hospitals, Cairo, Egypt. Patients underwent detailed clinical assessment including developmental history by growth charts, family history of epilepsy and family history of consanguinity, details about proposed seizure etiology , age of seizure onset, seizure frequency, seizure precipitants, response to the first drug and anti-seizure medications used; DEEG using the 10-20 International Electrode System placement with both referential and bipolar montages with hyperventilation as provocative method, brain MRI epilepsy protocol 3T , and IQ assessment using Stanford–Binet 5th edition testing. Results : The mean age of the cohort was 13.23 ± 4.88 years, with a mean age at seizure onset of 6.97 ± 3.45 years. Typical absence seizures were observed in 83.3% of patients, while 16.7% had atypical absence seizures. Behavioral arrest was the most frequent clinical manifestation (71.7%), followed by automatisms (18.3%) and myoclonic jerks (11.7%). Generalized tonic-clonic seizures were present in 21.7% of cases. Positive family history of epilepsy was identified in 30% of patients, and consanguinity was reported in 20%. EEG demonstrated generalized epileptiform activity in 66.7% of patients, while MRI abnormalities were identified in only 8.3%. Cognitive assessment revealed borderline or low IQ in 35% of the studied cohort. Conclusion : Egyptian patients with absence epilepsy demonstrate predominantly typical absence seizure semiology with characteristic generalized EEG abnormalities and largely normal neuroimaging findings. Cognitive impairment and neurodevelopmental comorbidities are relatively frequent and should be systematically assessed during clinical evaluation.