Absans Epilepsiler
Özet
Daha önce petit mal olarak isimlendirilen absans nöbetleri, aktivitenin birden duraksaması, bilinç kaybı ve yüz ifadesinde değişiklik şeklinde izlenmektedir. Çocukluk döneminde görülen nöbetlerin %10’undan azını oluşturur. Absans nöbet prevalansı yaşamın ilk dekadında en yüksekken 10 yaşından sonra sıklığı giderek düşmektedir. Absans nöbetler kızlarda daha sık görülmektedir. Absans nöbetlerinin çocukluk çağı absans epilepsisi (ÇÇAE), göz kapağı miyoklonili absans epilepsi, miyoklonik absans epilepsi, atipik absans nöbetler, juvenil absans epilepsi, fantom absanslı idiyopatik jeneralize epilepsiler, absanslı perioral miyokloni, absans status epileptikus tipleri bulunmaktadır. Otomatizmler absans nöbetlerde sık görülmekle beraber hastalar bu otomatizmaların farkında değildirler. Nöbetler çocuğun hareketsiz dönemlerinde hareketli dönemlerine göre daha sık görülmektedir. DEHB, davranış sorunları ve psikopatoloji sıklığı normal popülasyona göre absans nöbeti geçiren çocuklarda daha fazladır. Lennox-Gastaut sendromlu çocuklarda atipik absans nöbet sık görülmektedir. Hiperventilasyon sıklıkla absans nöbetleri tetikler. 3 ila 5 dakikalık hiperventilasyon uygulanarak çekilen EEG’nin normal olması, absans nöbetlerini neredeyse dışlar.
Absence seizures, previously called petit mal, are characterized by sudden cessation of activity, loss of consciousness and changes in facial expression. They constitute less than 10% of all seizures in childhood. The prevalence of absence seizures is highest in the first decade of life and gradually decreases after the age of 10. Absence seizures are more common in girls. There are different types of absence seizures including childhood absence epilepsy, absence epilepsy with eyelid myoclonus, myoclonic absence epilepsy, atypical absence seizures, juvenile absence epilepsy, idiopathic generalized epilepsies with phantom absence, perioral myoclonus with absence, and absence status epilepticus. Although automatisms are common in absence seizures, patients are not aware of these automatisms. Seizures are seen more frequently in the immobile periods of the child than in the active periods. The frequency of ADHD, behavioral problems and psychopathology is higher in children with absence seizures compared to the normal population. Atypical absence seizures are common in children with Lennox-Gastaut syndrome. Hyperventilation often triggers absence seizures. A normal EEG after 3 to 5 minutes of hyperventilation almost excludes absence seizures.
Referanslar
Pearl PL. Epilepsy Syndromes in Childhood. Continuum (Minneap Minn). 2018 Feb;24(1, Child Neurology):186-209.
Holmes GL. Generalised seizures, in : Swaiman FK, Ashwal S, Ferrıero DM, ed. Swaiman's Pediatric Neurology 6th ed. 2017. p.524-30.
Widdess-Walsh P, Dlugos D, Fahlstrom R, et al. ; EPGP Investigators. Lennox-Gastaut syndrome of unknown cause: phenotypic characteristics of patients in the Epilepsy Phenome/Genome Project. Epilepsia. 2013 Nov;54(11):1898-904.
Hirsch E, French J, Scheffer IE, et al. ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022 Jun;63(6):1475-1499.
Onat FY, van Luijtelaar G, Nehlig A, Snead OC. The involvement of limbic structures in typical and atypical absence epilepsy. Epilepsy Res. 2013 Feb;103(2-3):111-23.
Akyuz E, Ozenen C, Pinyazhko OR, Poshyvak OB, Godlevsky LS. Cerebellar contribution to absence epilepsy. Neurosci Lett. 2021 Sep 14;761:136110.
Striano S, Capovilla G, Sofia V, et al. Eyelid myoclonia with absences (Jeavons syndrome): a well-defined idiopathic generalized epilepsy syndrome or a spectrum of photosensitive conditions? Epilepsia. 2009; 50: 15–9.
Carmant L, Kramer U, Holmes GL, Mikati MA, Riviello JJ, Helmers SL. Differential diagnosis of staring spells in children: a video-EEG study. Pediatr Neurol. 1996 Apr;14(3):199-202.
Matricardi S, Verrotti A, Chiarelli F, Cerminara C, Curatolo P. Current advances in childhood absence epilepsy. Pediatr Neurol. 2014 Mar;50(3):205-12.
Panayiotopoulos CP. Generalised epileptic seizures, ın: Panayiotopoulos CP, ed. A Clinical Guide to Epileptic Syndromes and their Treatment. 2nd ed.2010.p.32-63.
Panayiotopouolus CP. Typical absence seizures. http://www.ilae epilepsy.org/ Visitors/Centre/ ctf/typical_absence.html.Last accessed. 2009.
Panayiotopoulos CP. Typical absence seizures and related epileptic syndromes:assessment of current state and directions for future research . Epilepsia. 2008;49:2131-9.
Pina-Garza JE. Paroxysmal Disorders. Fenichel's Clinical pediatric Neurology, A Signs and Symptoms Approach. 7th ed. Elsevier Saunders. 2013.p.26-33
Sinha S.R. Sullivan L. Sabau D. et al. American Clinical Neurophysiology Society Guideline 1: Minimum Technical Requirements for Performing Clinical Electroencephalography. J Clin Neurophysiol. 2016; 33: 303-307
Duron RM, Media MT, Martinez-Juarez ıE, et al. Seizures of idiopathic generalized epilepsies. Epilepsia. 2005;46(9): 34-47.
Panayiotopoulos CP. Idiopathic generalised epilepsies. ın: Panayiotopoulos CP, ed. The epilepsies: seizures, syndromes and management. Oxford, UK: Bladon Medical Publishing. 2005.p.271-348.
Tassinari CA, Michelucci R, Shigematsu H, Seino M. Atonic and falling seizures. in: Engel JJ, Pedley TA, eds. Epilepsy: a comprehensive textbook. Philadelphia: Lippincott- Raven Publishers.1997.p.605-16.
Van Dijkman SC, de Jager NCB, Rauwé WM, Danhof M. Effect of age-related factors on the pharmacokinetics of lamotrigine and potential implications for dose optimisation in epilepsy patients. Clin. Pharmacokinet. 2018;1–15:56.
Glauser TA, Cnaan A, Shinnar S, et al. Ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy. New Engl J Med. 2010; 362(9):790-9.
Coppola G, Auricchio G, Federico R, Carotenuto M, pascotto A. Lamotrigine versus valproic acid as first-line monotherapy in newly diagnosed typical absence seizures: an openlabel, randomized, parallel-group study. Epilepsia. 2004;45(9):1049-53.
Coppola G, Licciardi F, Sciscio N, Russo F, Carotenuto M, Pascotto A. Lamotrigine as first-line drug in childhood absence epilepsy: a clinical and neurophysiological study. Brain Dev 2004;26:26–29
Genton p. when antiepileptic drugs aggravate epilepsy. Brain Dev. 2000;22(2):75-80.
Singhi p. Childhood Electroclinical Syndromes: a diagnostic and therapeutic algorithm. Indian J pediatr. 2014;81(9):888-97.
Dulac O. Atypical absences. http://www.ilaeepilepsy.org/visitors/Centre/ctf/atypical absence.html. Last accessed. 2010
Velazquez JL, Huo JZ, Dominguez LG, Leschenko Y, Snead OC, ııı. Typical versus atypical absence seizures: network mechanisms of the spread of paroxysms. Epilepsia. 2007;48:1585-93.
Aicardi J , Levy-Gomez A. Lennox-Gastaut sendromu: klinik ve elektroensefalografik özellikler . İçinde: E Niedermeyer , R Degen , editörler. Lennox-Gastaut sendromu . New York : Alan R. Riss, 1988 ; P. 25 – 46 .
Bureau M, Tassinari CA. Epilepsy with myoclonic absences. Brain Dev. 2005; 27(3): 178–84.
Arzimanoglou A, Guerrini R, Aicardi J, eds. Aicardi’s Epilepsy in Children, 3rd edn. philadelphia; Lippincott Williams&Wilkins. 2004;188-209.
Bureau M, Genton P, Delgado-Escueta AV, et al. Epilepstic Syndromes in Infancy, Childhood and Adolecence. Montrouge: John Libbey Eurotext Ltd. 4th edn. 2005.p. 337-44.
Specchio N, Wirrell EC, Scheffer IE, et al. International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022 Jun;63(6):1398-1442.
Panayiotopoulos Cp, ferrie Cd, Giannakodimos SE, Robinson Ro. perioral myoclonia with absences: a new syndrome. In: Wolf p. Epileptic Seizures and Syndromes. London: John Libbey &Company Ltd publishers. 1994;143-53.
Genton p, et al. Epilepsy with myoclonic absences. CnS drugs. 2006;20:911-6.
Panayiotopoulos CP. Syndromes of idiopathic generalized epilepsies not recognized by the International League Against Epilepsy. Epilepsia. 2005; 46: 57–66.
Kasteleijn-Nolst Trenité D, Rubboli G, Hirsch E, et al. Methodology of photic stimulation revisited: updated European algorithm for visual stimulation in the EEG laboratory. Epilepsia. 2012; 53(1): 16–24.
Yadala S, Nalleballe K. Juvenile Absence Epilepsy. 2023 Aug 7. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan–. PMID: 32644481.
Koutroumanidis, M., Aggelakis, K., Panayiotopoulos, C.P. Idiopathic epilepsy with generalized tonic-clonic seizures only versus idiopathic epilepsy with phantom absences and generalized tonic-clonic seizures: one or two syndromes? Epilepsia. 2008 Dec;49(12):2050-62. doi: 10.1111/j.1528-1167.2008.01702.x.
Marini, C., King, M.A., Archer, J.S. et al. Idiopathic generalized epilepsy of adult onset: clinical syndromes and genetics. J Neurol Neurosurg Psychiatr 2003;74:192–6.
Rudrabhatla, P.K., Er, S., Radhakrishnan, A., Menon, R.N. Unmasking the entity of 'drug-resistant' perioral myoclonia with absences: the twitches, darts and domes! Epileptic Disord. 2021 Apr 1;23(2):313-324. doi: 10.1684/epd.2021.1265. PMID: 33851919.
d'Orsi, G., Demaio, V., Trivisano, M., Pascarella, M.G., Specchio, L.M. Ictal video-polygraphic features of perioral myoclonia with absences. Epilepsy Behav. 2011 Jul;21(3):314-7. doi: 10.1016/j.yebeh.2011.03.040.
Trinka, E., Cock, H., Hesdorffer, D. et al. A definition and classification of status epilepticus--Report of the ILAE Task Force on Classification of Status Epilepticus. Epilepsia. 2015 Oct;56(10):1515-23. doi: 10.1111/epi.13121.
Adams, S.J., Wong, M., Haji, T., Sohail, S., Almubarak, S. Pediatric Absence Status Epilepticus: Prolonged Altered Mental Status in an 8-Year-Old Boy. Case Rep Neurol Med. 2016;2016:9238310. doi: 10.1155/2016/9238310. Epub 2016 Nov 16.
Thomas, P., Beaumanoir, A., Genton, P., Dolisi, C., Chatel, M. ‘de novo’ absence status of late onset: report of 11 cases. Neurolog. 1992;42:104–10
Albuja, A.C., Khan, G.Q. Absence Seizure. 2022 Oct 10. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan–. PMID: 29763042
Vorderwülbecke, B.J., Wandschneider, B., Weber, Y., Holtkamp, M. Genetic generalized epilepsies in adults - challenging assumptions and dogmas. Nat Rev Neurol. 2022 Feb;18(2):71-83. doi: 10.1038/s41582-021-00583-9. Epub 2021 Nov 26. PMID: 34837042.
Referanslar
Pearl PL. Epilepsy Syndromes in Childhood. Continuum (Minneap Minn). 2018 Feb;24(1, Child Neurology):186-209.
Holmes GL. Generalised seizures, in : Swaiman FK, Ashwal S, Ferrıero DM, ed. Swaiman's Pediatric Neurology 6th ed. 2017. p.524-30.
Widdess-Walsh P, Dlugos D, Fahlstrom R, et al. ; EPGP Investigators. Lennox-Gastaut syndrome of unknown cause: phenotypic characteristics of patients in the Epilepsy Phenome/Genome Project. Epilepsia. 2013 Nov;54(11):1898-904.
Hirsch E, French J, Scheffer IE, et al. ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022 Jun;63(6):1475-1499.
Onat FY, van Luijtelaar G, Nehlig A, Snead OC. The involvement of limbic structures in typical and atypical absence epilepsy. Epilepsy Res. 2013 Feb;103(2-3):111-23.
Akyuz E, Ozenen C, Pinyazhko OR, Poshyvak OB, Godlevsky LS. Cerebellar contribution to absence epilepsy. Neurosci Lett. 2021 Sep 14;761:136110.
Striano S, Capovilla G, Sofia V, et al. Eyelid myoclonia with absences (Jeavons syndrome): a well-defined idiopathic generalized epilepsy syndrome or a spectrum of photosensitive conditions? Epilepsia. 2009; 50: 15–9.
Carmant L, Kramer U, Holmes GL, Mikati MA, Riviello JJ, Helmers SL. Differential diagnosis of staring spells in children: a video-EEG study. Pediatr Neurol. 1996 Apr;14(3):199-202.
Matricardi S, Verrotti A, Chiarelli F, Cerminara C, Curatolo P. Current advances in childhood absence epilepsy. Pediatr Neurol. 2014 Mar;50(3):205-12.
Panayiotopoulos CP. Generalised epileptic seizures, ın: Panayiotopoulos CP, ed. A Clinical Guide to Epileptic Syndromes and their Treatment. 2nd ed.2010.p.32-63.
Panayiotopouolus CP. Typical absence seizures. http://www.ilae epilepsy.org/ Visitors/Centre/ ctf/typical_absence.html.Last accessed. 2009.
Panayiotopoulos CP. Typical absence seizures and related epileptic syndromes:assessment of current state and directions for future research . Epilepsia. 2008;49:2131-9.
Pina-Garza JE. Paroxysmal Disorders. Fenichel's Clinical pediatric Neurology, A Signs and Symptoms Approach. 7th ed. Elsevier Saunders. 2013.p.26-33
Sinha S.R. Sullivan L. Sabau D. et al. American Clinical Neurophysiology Society Guideline 1: Minimum Technical Requirements for Performing Clinical Electroencephalography. J Clin Neurophysiol. 2016; 33: 303-307
Duron RM, Media MT, Martinez-Juarez ıE, et al. Seizures of idiopathic generalized epilepsies. Epilepsia. 2005;46(9): 34-47.
Panayiotopoulos CP. Idiopathic generalised epilepsies. ın: Panayiotopoulos CP, ed. The epilepsies: seizures, syndromes and management. Oxford, UK: Bladon Medical Publishing. 2005.p.271-348.
Tassinari CA, Michelucci R, Shigematsu H, Seino M. Atonic and falling seizures. in: Engel JJ, Pedley TA, eds. Epilepsy: a comprehensive textbook. Philadelphia: Lippincott- Raven Publishers.1997.p.605-16.
Van Dijkman SC, de Jager NCB, Rauwé WM, Danhof M. Effect of age-related factors on the pharmacokinetics of lamotrigine and potential implications for dose optimisation in epilepsy patients. Clin. Pharmacokinet. 2018;1–15:56.
Glauser TA, Cnaan A, Shinnar S, et al. Ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy. New Engl J Med. 2010; 362(9):790-9.
Coppola G, Auricchio G, Federico R, Carotenuto M, pascotto A. Lamotrigine versus valproic acid as first-line monotherapy in newly diagnosed typical absence seizures: an openlabel, randomized, parallel-group study. Epilepsia. 2004;45(9):1049-53.
Coppola G, Licciardi F, Sciscio N, Russo F, Carotenuto M, Pascotto A. Lamotrigine as first-line drug in childhood absence epilepsy: a clinical and neurophysiological study. Brain Dev 2004;26:26–29
Genton p. when antiepileptic drugs aggravate epilepsy. Brain Dev. 2000;22(2):75-80.
Singhi p. Childhood Electroclinical Syndromes: a diagnostic and therapeutic algorithm. Indian J pediatr. 2014;81(9):888-97.
Dulac O. Atypical absences. http://www.ilaeepilepsy.org/visitors/Centre/ctf/atypical absence.html. Last accessed. 2010
Velazquez JL, Huo JZ, Dominguez LG, Leschenko Y, Snead OC, ııı. Typical versus atypical absence seizures: network mechanisms of the spread of paroxysms. Epilepsia. 2007;48:1585-93.
Aicardi J , Levy-Gomez A. Lennox-Gastaut sendromu: klinik ve elektroensefalografik özellikler . İçinde: E Niedermeyer , R Degen , editörler. Lennox-Gastaut sendromu . New York : Alan R. Riss, 1988 ; P. 25 – 46 .
Bureau M, Tassinari CA. Epilepsy with myoclonic absences. Brain Dev. 2005; 27(3): 178–84.
Arzimanoglou A, Guerrini R, Aicardi J, eds. Aicardi’s Epilepsy in Children, 3rd edn. philadelphia; Lippincott Williams&Wilkins. 2004;188-209.
Bureau M, Genton P, Delgado-Escueta AV, et al. Epilepstic Syndromes in Infancy, Childhood and Adolecence. Montrouge: John Libbey Eurotext Ltd. 4th edn. 2005.p. 337-44.
Specchio N, Wirrell EC, Scheffer IE, et al. International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022 Jun;63(6):1398-1442.
Panayiotopoulos Cp, ferrie Cd, Giannakodimos SE, Robinson Ro. perioral myoclonia with absences: a new syndrome. In: Wolf p. Epileptic Seizures and Syndromes. London: John Libbey &Company Ltd publishers. 1994;143-53.
Genton p, et al. Epilepsy with myoclonic absences. CnS drugs. 2006;20:911-6.
Panayiotopoulos CP. Syndromes of idiopathic generalized epilepsies not recognized by the International League Against Epilepsy. Epilepsia. 2005; 46: 57–66.
Kasteleijn-Nolst Trenité D, Rubboli G, Hirsch E, et al. Methodology of photic stimulation revisited: updated European algorithm for visual stimulation in the EEG laboratory. Epilepsia. 2012; 53(1): 16–24.
Yadala S, Nalleballe K. Juvenile Absence Epilepsy. 2023 Aug 7. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan–. PMID: 32644481.
Koutroumanidis, M., Aggelakis, K., Panayiotopoulos, C.P. Idiopathic epilepsy with generalized tonic-clonic seizures only versus idiopathic epilepsy with phantom absences and generalized tonic-clonic seizures: one or two syndromes? Epilepsia. 2008 Dec;49(12):2050-62. doi: 10.1111/j.1528-1167.2008.01702.x.
Marini, C., King, M.A., Archer, J.S. et al. Idiopathic generalized epilepsy of adult onset: clinical syndromes and genetics. J Neurol Neurosurg Psychiatr 2003;74:192–6.
Rudrabhatla, P.K., Er, S., Radhakrishnan, A., Menon, R.N. Unmasking the entity of 'drug-resistant' perioral myoclonia with absences: the twitches, darts and domes! Epileptic Disord. 2021 Apr 1;23(2):313-324. doi: 10.1684/epd.2021.1265. PMID: 33851919.
d'Orsi, G., Demaio, V., Trivisano, M., Pascarella, M.G., Specchio, L.M. Ictal video-polygraphic features of perioral myoclonia with absences. Epilepsy Behav. 2011 Jul;21(3):314-7. doi: 10.1016/j.yebeh.2011.03.040.
Trinka, E., Cock, H., Hesdorffer, D. et al. A definition and classification of status epilepticus--Report of the ILAE Task Force on Classification of Status Epilepticus. Epilepsia. 2015 Oct;56(10):1515-23. doi: 10.1111/epi.13121.
Adams, S.J., Wong, M., Haji, T., Sohail, S., Almubarak, S. Pediatric Absence Status Epilepticus: Prolonged Altered Mental Status in an 8-Year-Old Boy. Case Rep Neurol Med. 2016;2016:9238310. doi: 10.1155/2016/9238310. Epub 2016 Nov 16.
Thomas, P., Beaumanoir, A., Genton, P., Dolisi, C., Chatel, M. ‘de novo’ absence status of late onset: report of 11 cases. Neurolog. 1992;42:104–10
Albuja, A.C., Khan, G.Q. Absence Seizure. 2022 Oct 10. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan–. PMID: 29763042
Vorderwülbecke, B.J., Wandschneider, B., Weber, Y., Holtkamp, M. Genetic generalized epilepsies in adults - challenging assumptions and dogmas. Nat Rev Neurol. 2022 Feb;18(2):71-83. doi: 10.1038/s41582-021-00583-9. Epub 2021 Nov 26. PMID: 34837042.
