Epilepsi ve Otizm
Özet
Otizm Spektrum Bozukluğu (OSB) ile epilepsi arasındaki ilişki, genetik yatkınlıklar ve nörolojik mekanizmalarla açıklanabilen oldukça yaygın ve karmaşık bir birlikteliktir. OSB tanılı bireylerde epileptik nöbetler ve subklinik EEG anormallikleri genel popülasyondan belirgin şekilde daha sık görülmekte, bu durum sıklıkla ciddi davranışsal ve bilişsel işlev bozukluklarıyla ilişkilendirilmektedir. Tuberoz skleroz, Dravet ve Rett sendromu gibi genetik temelli sendromlarda ise bu iki durumun eş zamanlı görülme oranı artmakta, tedavi yaklaşımlarında subklinik epileptik deşarjların yönetimi nöroprotektif bir seçenek olarak değerlendirilmektedir.
The relationship between Autism Spectrum Disorder (ASD) and epilepsy is a common and complex association explainable through genetic predispositions and neurological mechanisms. Epileptic seizures and subclinical EEG abnormalities occur significantly more frequently in individuals with ASD than in the general population, which is often linked to severe behavioral and cognitive dysfunctions. In genetically based syndromes such as Tuberous Sclerosis, Dravet, and Rett syndrome, the co-occurrence of these conditions increases, and the management of subclinical epileptic discharges in treatment approaches is considered a potential neuroprotective strategy.
Referanslar
American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, 5th edition. Arlington, VA. 2013.
Bölte S, Girdler S, Marschik PB. The contribution of environmental exposure to the etiology of autism spectrum disorder. Cell Mol Life Sci. 2019;76(7):1275-97.
Almandil NB, Alkuroud DN, AbdulAzeez S, AlSulaiman A, Elaissari A, Borgio JF. Environmental and Genetic Factors in Autism Spectrum Disorders: Special Emphasis on Data from Arabian Studies. Int J Environ Res Public Health. 2019;16(4):658.
Loussouarn A, Dozieres-Puyravel B, Auvin S. Autistic spectrum disorder and epilepsy: diagnostic challenges. Expert Review of Neurotherapeutics. 2019(19): 579-85.
Su CC, Lin SH. Bidirectional association between autism spectrum disorder and epilepsy in child and adolescent patients: a population-based cohort study. Eur Child AdolescPsychiatry. 2016; 25: 979-987.
Hara H. Autism and epilepsy: A retrospective follow-up study. Brain Dev. 2007; 29: 486-490.
Rossi PG, Parmeggiani A, Bach V. EEG features and epilepsy in patients with autism. Brain Dev. 1995; 17: 169-74.
Chez MG, Chang M, Krasne V, Coughlan C, Kominsky M, Schwartz A. Frequency of epileptiform EEG abnormalities in a sequential screening of autistic patients with no known clinical epilepsy from 1996 to 2005. Epilepsy Behav. 2006 Feb;8(1):267-71.
Wegiel J, Kuchna I, Nowicki K, et al. The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes. ActaNeuropathol. 2010;119(6):755-770.
Stoner R, Chow ML, Boyle MP, et al. Patches of disorganization in the neocortex of children with autism. N Engl J Med. 2014;370:1209–19.
Frye RE, Casanova MF, Fatemi SH, et al. Neuropathological Mechanisms of Seizures in Autism Spectrum Disorder. Front Neurosci. 2016;10:192.
Princivalle AP, Richards DA, Duncan JS, Spreafico R, Bowery NG. Modification of GABA(B1) and GABA(B2) receptor subunits in the somatosensory cerebral cortex and thalamus of rats with absence seizures (GAERS). Epilepsy Res. 2003;55, 39–51.
Fatemi SH, Reutiman TJ, Folsom TD, Thuras PD. GABA(A) receptor down regulation in brains of subjects with autism. J. Autism Dev. Disord. 2009;39, 223–30.
Mazarati AM, Lewis ML, Pittman QJ. Neurobehavioral comorbidities of epilepsy: Role of inflammation. Epilepsia. 2017 Jul;58 Suppl 3:48-56.
Vargas DL, Nascimbene C, Krishnan C, Zimmerman AW, Pardo CA. Neuroglial activation and neuroinflammation in the brain of patients with autism. AnnNeurol. 2005 Jan;57(1):67-81.
Saemundsen E, Ludvigsson P, Rafnsson V. Risk of autism spectrum disorders after infantile spasms: a population-based study nested in a cohort with seizures in the first year of life. Epilepsia. 2008;49:1865–70.
Specchio N, Pietrafusa N, Trivisano M, et al. Autism and epilepsy in patient with tuberous sclerosis complex. Front Neurol. 2020; 11:639
Ouss L, Leunen D, Laschet J, et al. Autism spectrum disorder and cognitive profile in children with dravet syndrome: delineation of a specific phenotype. Epilepsia Open. 2019; 4: 40-53.
Caraballo RH, Cejas N, Chamorro N, Kaltenmeier MC, Fortini S, Soprano AM. Landau-Kleffner syndrome: a study of 29 patients. Seizure. 2014; 23(2): 98-104.
Riccio CA, Vidrine SM, Cohen MJ, Acosta-Cotte D, Park Y. Neurocognitive and behavioral profiles of children with Landau-Kleffner syndrome. Appl Neuropsychol Child. 2017; 6(4): 345-354.
Bonanni P, Casellato S, Fabbro F, Negrin S. Epilepsy in fargile-X-syndrome mimicking Panayiotopoulos syndrome: description of three patients. Am J MedGenet. 2017; 1-5.
Gauthey M, Poloni CB, Ramelli GP, Perez ER, Korff CM. Status epilepticus in fragile-x-syndrome. Epilepsia, 2010;51 (12):2470-4.
Wheeler AC, Mussey J, Villagomez A, et al. DSM-5 changes and the prevalence of parent-reported autism spectrum symptoms in Fragile X syndrome. J Autism Dev Disord. 2015; Mar;45(3):816-29.
Heard TT, Ramgopal S, Picker J, Lincoln SA, Rotenberg A, Kothare SV. EEG abnormalities and seizures in genetically diagnosed Fragile X syndrome. Int J Dev Neurosci. 2014; Nov;38:155-60.
Samanta D. Epilepsy in Angelman Syndrome: A scoping review. Brain Dev. 2021 Jan;43(1):32-442020.
Peters SU, Beaudet AL, Madduri N, Bacino CA. Autism in Angelman syndrome: implications for autism research. Clin Genet. 2004;Dec;66(6):530-6.
Steffenburg S, Gillberg CL, Steffenburg U, Kyllerman M. Autism in Angelman syndrome: a population-based study. Pediatr Neurol. 1996; Feb;14(2):131-6.
Bakke KA, Howlin P, Retterstøl L, Kanavin Ø, Heiberg A, Nærland T. Effect of epilepsy on autism symptoms in Angelman syndrome. MolAutism. 2018;9:2,017-0185-1.
Luk HM, Lo IF. Angelman syndrome in Hong Kong Chinese: A 20 years’ experience. Eur J MedGenet. 2016;59:315–9.
Operto FF, Mazza R, Pastorino GMG. Epilepsy and genetic in Rett Syndrome: A review. Brain and Behavior. 2019; 9: e01250.
Ehrhart F, Sangani NB, Curfs LMG. Current developments in the genetics of Rett and Rett-like syndrome. Curr Opin Psychiatry. 2018;Mar;31(2):103-108.
Precenzano F, Parisi L, Lanzara V, et al. Electroencephalographic Abnormalities in Autism Spectrum Disorder: Characteristics and Therapeutic Implications. Medicina (Kaunas). 2020; (19);56(9):419.
Hollander E, Dolgoff-Kaspar R, Cartwright C, Rawitt R, Novotny S. An open trial of divalproex sodium in autism spectrum disorders. J Clin Psychiatry. 2001; Jul;62(7):530-4.
Pressler RM, Robinson RO, Wilson GA, Binnie CD. Treatment of interictal epileptiform discharges can improve behavior in children with behavioral problems and epilepsy. J Pediatr. 2005 Jan;146(1):112-7.
Wang M, Jiang L, Tang X. Levetiracetam is associated with decrease in subclinical epileptiform discharges and improved cognitive functions in pediatric patients with autism spectrum disorder. Neuropsychiatr Dis Treat. 2017;13:2321-2326.