Çocukluk Çağı Absans Epilepsili Hastaların Klinik Özellikleri ve EEG Bulguları

Yıl 2025, Cilt: 35 Sayı: 6, 1178 - 1189

Mehmet Baştemur , Haci Nadir Yalçın , Neslihan Bilgin , Mutluay Arslan , Bülent Ünay

https://doi.org/10.54005/geneltip.1708309

Öz

Amaç
Bu çalışmada, çocukluk çağı absans epilepsili (ÇAE) hastaların klinik özellikleri ve elektroensefalografik (EEG) bulgularını tanımlamak ve bu parametrelerin tedavi yanıtı ile ilişkisinin değerlendirilmesi amaçlandı.
Yöntem
Çalışmaya 2021–2024 yılları arasında ÇAE tanısı almış 21 hasta dâhil edildi. Hastaların demografik verileri, nöbet özellikleri, tedavi başlangıç zamanı, klinik muayene bulguları, başlangıç EEG kayıtları ve izlem sürecindeki tedavi yanıtları retrospektif olarak analiz edildi. Hastaların tedavi öncesi EEG kayıtları bir çocuk nöroloğu tarafından tekrar değerlendirildi.
Bulgular
Yirmi bir hasta çalışmaya dahil edildi. Ortalama nöbet başlangıç yaşı 7,3 yıldı (aralık: 4,5-11 yıl). Cinsiyet dağılımı neredeyse eşitti: %47,6 kız, %52,4 erkek. Hastaların yaklaşık üçte birinde motor komponent eşlik etmekteydi. Hiperventilasyon testi sırasında muayenede 15 olguda (%71,4) nöbet gözlendi ve %85,7’sinde EEG’de spike-wave deşarjlar görüldü. Aralıklı fotik stimülason sırasında olguların %19’unda epileptik deşarj saptandı. EEG’de deşarjların süresi en sık 1–10 saniye aralığındaydı. Altı hastada (28%) fokal fragmentler, beş hastada (%23) OIRDA saptandı. Deşarj sıklığı ≤4 olan hastaların %90,9'unda, >4 olanlarda ise %70'inde tam tedavi yanıtı elde edildi. Etosüksimid ile tedavi başlanan tüm hastalarda tam nöbet kontrolü sağlanırken, valproat ve lamotrijin gruplarında bu oran daha düşüktü. Üç ay içinde tedaviye başlayan hastalarda yanıt oranları daha yüksekti. Erken tam yanıt elde edilen hastaların sonraki takiplerinde nöbet gözlenmedi.
Sonuç
ÇAE’de klinik ve EEG verilerinin birlikte değerlendirilmesi, tedavi planlamasında ve prognoz öngörüsünde önemlidir. Fokal bulgular her zaman olumsuz anlam taşımamakla birlikte, dikkatli yorumlanmalıdır.

Anahtar Kelimeler

İdiyopatik jeneralize epilepsi , Çocukluk çağı absans epilepsisi , Absans nöbetleri , Elektroklinik özellikler; Terapötik sonuçlar

Etik Beyan

Bu çalışma Gülhane Eğitim ve Araştırma Hastanesi Etik Kurulu'ndan onay alındıktan sonra başlatılmıştır (Karar No: 2025/30, Tarih: 06.02.2025).

Destekleyen Kurum

Bu araştırma kamu, ticari veya kâr amacı gütmeyen sektörlerdeki fon sağlayan kuruluşlardan herhangi bir özel hibe almamıştır

Teşekkür

Yazarlar, bu çalışmaya katılan hasta ve ailelerine teşekkür etmektedir.

Clinical Characteristics and EEG Findings of Patients with Childhood Absence Epilepsy

Öz

Abstract
Aim
This study aimed to describe the clinical features and electroencephalographic (EEG) findings of patients with childhood absence epilepsy (CAE) and to evaluate the relationship of these parameters with treatment response.
Methods
Twenty-one patients diagnosed with childhood absence epilepsy (CAE) between 2021 and 2024 were included in the study. Demographic data, seizure characteristics, timing of treatment initiation, clinical examination findings, baseline EEG recordings, and treatment responses during follow-up were retrospectively analyzed. Pre-treatment EEG recordings were re-evaluated by a pediatric neurologist.
Results
Twenty-one patients were included. The mean age at seizure onset was 7.3 years (range: 4.5 to 11 years). The gender distribution was almost equal: 47.6% girls and 52.4% boys. Approximately one-third of the patients had accompanying motor components. During the hyperventilation test, seizures were observed in 15 cases (71.4%) and spike-wave discharges in EEG were seen in 18 (85.7%). Epileptic discharges were detected in four cases (19%) during intermittent photic stimulation. The duration of discharges in EEG was most frequently in the range of 1-10 seconds. Focal fragments were detected in six patients (28%), and OIRDA in five ( 23%). Complete treatment response was achieved in 90.9% of patients with ≤4 discharges frequency and in 70% of those with >4 discharge frequency. All patients initially treated with ethosuximide achieved complete seizure control, whereas response rates were lower in the valproate and lamotrigine groups. Patients who started treatment within three months had higher response rates. No seizures were observed in subsequent follow-ups of patients who achieved early complete response.
Conclusion
Combined evaluation of clinical and EEG findings in CAE is crucial for treatment planning and prognosis estimation. Although focal findings do not always indicate a poor outcome, they should be interpreted with caution.

Anahtar Kelimeler

Idiopathic generalized epilepsy , Childhood Absence Epilepsy , Absence seizures , Electroclinical features , Therapeutic outcomes.

Etik Beyan

This study was initiated after receiving approval from the Ethics Committee of Gülhane Training and Research Hospital (Decision No: 2025/30, Date: 06.02.2025).

Destekleyen Kurum

This research did not receive any specific grant from funding agencies in the public, commercial, or not-forprofit sectors.

Teşekkür

The authors wish to thank the patients and families who participated in this study.

Kaynakça

• 1. Hirsch E, French JA, Scheffer IE, Bogacz A, Alsaadi T, Sperling MR, et al. ILAE definition of the idiopathic generalized epilepsy syndromes: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022;63(6):1475–1499
• 2. Olsson I, Hedström A. Epidemiology of absence epilepsy. II. Typical absences in children with encephalopathies. Acta Paediatr Scand. 1991;80(2):235-42
• 3. Loiseau J, Loiseau P, Guyot M, Duche B, Dartigues JF, Aublet B. Survey of seizure disorders in the French southwest. I. Incidence of epileptic syndromes. Epilepsia. 1990;31(4):391-6
• 4. Kessler SK, Shinnar S, Cnaan A, Dlugos D, Conry J, Hirtz DG. et al. Childhood Absence Epilepsy Study Group. Pretreatment seizure semiology in childhood absence epilepsy. Neurology. 2017;89(7):673-679
• 5. Pearl PL. Epilepsy Syndromes in Childhood. Continuum (Minneap Minn). 2018;24(1, Child Neurology):186-209
• 6. Akyuz E, Ozenen C, Pinyazhko OR, Poshyvak OB, Godlevsky LS. Cerebellar contribution to absence epilepsy. Neurosci Lett. 2021;761:136110
• 7. Matricardi S, Verrotti A, Chiarelli F, Cerminara C, Curatolo P. Current advances in childhood absence epilepsy. Pediatr Neurol. 2014;50(3):205-12
• 8. Callenbach PM, Bouma PA, Geerts AT, Arts WF, Stroink H, Peeters EA. et al. Long-term outcome of childhood absence epilepsy: Dutch Study of Epilepsy in Childhood. Epilepsy Res. 2009;83(2-3):249-56
• 9. Shinnar S, Cnaan A, Hu F, Clark P, Dlugos D, Hirtz DG, et al. Childhood Absence Epilepsy Study Group. Long-term outcomes of generalized tonic-clonic seizures in a childhood absence epilepsy trial. Neurology. 2015;85(13):1108-14
• 10. Rozenblat T, Kraus D, Mahajnah M, Goldberg-Stern H, Watemberg N. Absence seizure provocation during routine EEG: Does position of the child during hyperventilation affect the diagnostic yield? Seizure. 2020;79:86-89
• 11. Sadleir LG, Farrell K, Smith S, Connolly MB, Scheffer IE. Electroclinical features of absence seizures in childhood absence epilepsy. Neurology. 2006;67:413–8
• 12. Dlugos D, Shinnar S, Cnaan A, Hu F, Moshé S, Mizrahi E, et al.; Childhood Absence Epilepsy Study Team. Pretreatment EEG in childhood absence epilepsy: associations with attention and treatment outcome. Neurology. 2013;81(2):150-6
• 13. Brigo F, Igwe SC, Lattanzi S. Ethosuximide, sodium valproate or lamotrigine for absence seizures in children and adolescents. Cochrane Database Syst Rev. 2021;1(1):CD003032
• 14. Wirrell EC, Camfield CS, Camfield PR, Gordon KE, Dooley JM. Long-term prognosis of typical childhood absence epilepsy: remission or progression to juvenile myoclonic epilepsy. Neurology. 1996;47(4):912-8
• 15. Tenney JR, Glauser TA. The current state of absence epilepsy: can we have your attention? Epilepsy Curr. 2013;13(3):135-40
• 16. Bashiri, Fahad A.; Al dosari, Abdullah; Hamad, Muddathir H.; Kentab, Amal Y.; Alwadei, Ali H. Childhood absence epilepsy: Electro-clinical manifestations, treatment options, and outcome in a tertiary educational center. International Journal of Pediatrics and Adolescent Medicine 9(2):p 131-135,2022
• 17. Yaşgüçlükal MA, Özçelik EU, Deniz Elmali A, Çokar Ö, Demirbilek V. Long-term Prognosis of Childhood Absence Epilepsy. Noro Psikiyatr Ars. 2024;61(1):85-89
• 18. Filippi C, Damioli S, Accorsi P, Crotti E, Fazzi EM, Galli J, et al. Early onset absence epilepsy of childhood: Epidemiologic data, treatment and outcome in a sample of 56 patients born between 2000 and 2018. Seizure. 2024;118:47-52
• 19. Sara Matricardi, MD, Alberto Verrotti, MD, PhD, Francesco Chiarelli, MD, PhD, Caterina Cerminara, MD, Paolo Curatolo, MD. Current Advances in Childhood Absence Epilepsy. Pediatric Neurology, Volume 50, Issue 3, 205 – 212 20. Vlachou M, Skrimpas GA, Kural MA, Rackauskaite G, Nikanorova N, Christensen J, et al. Electroclinical features and long-term therapeutic response in patients with typical absence seizures. Epileptic Disord. 2022;24(2):315-322
• 21. Özçelik EU, Çokar Ö, Demirbilek V. Pretreatment electroencephalographic features in patients with childhood absence epilepsy. Neurophysiol Clin. 2022;52(4):280-289
• 22. Watemberg N, Farkash M, Har-Gil M, Sezer T, Goldberg-Stern H, Alehan F. Hyperventilation during routine electroencephalography: are three minutes really necessary? Pediatr Neurol. 2015;52(4):410-3
• 23. Eapen M, Iype M, Saradakutty G, Jayan BB, Sreedharan M, Ahamed S, et al. Childhood Absence Epilepsy- Electroclinical Profile and Prevalence of Attention-Deficit/Hyperactivity Disorder Among a Cohort of 47 Children. Pediatr Neurol. 2024;150:65-73
• 24. Tekin HG, Karaoğlu P, Edem P. Clinical and Electrophysiological Prognostic Factors of Childhood Absence Epilepsy. J Pediatr Res. 2021;8(3):320-325
• 25. Dlugos D, Shinnar S, Cnaan A, Hu F, Moshé S, Mizrahi E, et al; Childhood Absence Epilepsy Study Team. Pretreatment EEG in childhood absence epilepsy: associations with attention and treatment outcome. Neurology. 2013;81(2):150-6
• 26. Harvey S, Shahwan A. Typical absence seizures in children: Review with focus on EEG predictors of treatment response and outcome. Seizure. 2023;110:1-10
• 27. Harvey S, Thompson C, O'Flaherty O, Scott L, O'Malley S, O'Rourke D, et al. Relationship Between Electroencephalography and Seizure Outcome in Typical Absence Seizures in Children. Pediatr Neurol. 2023;148:56-64
• 28. Incecik F, Altunbasak S, Herguner OM. First-drug treatment failures in children with typical absence epilepsy. Brain Dev 2015; 37:311-4
• 29. Guilhoto LMFF, Manreza MLG, Yacubian EMT. Occipital intermittent rhythmic delta activity in absence epilepsy. Arq Neuropsiquiatr 2006; 64:193-7
• 30. Kim HR, Kim GH, Eun SH, Eun BL, Byeon JH. Therapeutic outcomes and prognostic factors in childhood absence epilepsy. J Clin Neurol 2016; 12:160-5
• 31. Boesen MS, Børresen ML, Christensen SK, Klein-Petersen AW, El Mahdaoui S, Sagar MV, et al. School performance and psychiatric comorbidity in childhood absence epilepsy: A Danish cohort study. Eur J Paediatr Neurol. 2023;42:75-81
• 32. Caplan R, Siddarth P, Stahl L, Lanphier E, Vona P, Gurbani S, et al. Childhood absence epilepsy: behavioral, cognitive, and linguistic comorbidities. Epilepsia. 2008;49(11):1838-46
• 33. Vanderwiel SL, Jones B, Nickels KC, Wong-Kisiel LC, Fine A, Mandrekar J, et al. Risk of ADHD in children with childhood absence epilepsy versus controls: A population-based study. Epilepsy Behav. 2024;161:110143
• 34. Glauser TA, Cnaan A, Shinnar S, Hirtz DG, Dlugos D, Masur D, et al. Childhood Absence Epilepsy Study Group. Ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy. N Engl J Med. 2010;362(9):790-9
• 35. Hwang H, Kim H, Kim SH, Kim SH, Lim BC, Chae JH, et al. Long-term effectiveness of ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy. Brain Dev. 2012;34(5):344-8
• 36. Rinaldi VE, Di Cara G, Mencaroni E, Verrotti A. Therapeutic Options for Childhood Absence Epilepsy. Pediatr Rep. 2021;13(4):658-667