Preview

Русский журнал детской неврологии

Расширенный поиск

Коморбидность аутизма и эпилепсии. Взгляд с точки зрения онтогенеза

https://doi.org/10.17650/2073-8803-2018-13-4-40-52

Полный текст:

Аннотация

Ранний детский аутизм, или расстройства аутистического спектра, с первых описаний синдрома представляет собой крайне разнородную группу состояний, объединенных едиными признаками дизонтогенеза. Наиболее значимым и отягощающим коморбидным заболеванием при аутизме является эпилепсия. В настоящей статье выполнен обзор литературы по различным аспектам коморбидности эпилепсии и аутизма за последние 50 лет. Цель обзора – анализ возникновения эпилепсии и аутизма в процессе онтогенеза, выявление причинно-следственных связей между данными заболеваниями с учетом имеющихся сведений о 2 возрастных пиках дебюта эпилепсии при аутизме.

Об авторах

Г. В. Кузьмич
ООО «Институт детской неврологии и эпилепсии им. Свт. Луки»; ГБУЗ «Научно-практический центр психического здоровья детей и подростков им. Г.Е. Сухаревой» ДЗМ.
Россия
108840 Москва, Троицк, ул. Нагорная, 5; 119334 Москва, 5-й Донской проезд, 21А.


А. Н. Синельникова
ФГАОУ ВО «Российский университет дружбы народов».
Россия

кафедра нормальной физиологии медицинского института.

117198 Москва, ул. Миклухо-Маклая, 6. 



Список литературы

1. Малинина Е.В., Забозлаева И.В., Саб-лина Т.Н., Сединкин А.А. Аутизм, эпилепсия и эпилептиформная актив-ность. Психиатрия 2013;4(60):11—5.

2. Мухин К.Ю., Петрухин А.С., Глухо¬ва Л.Ю. Эпилепсия: aтлас электро-клинической диагностики. М.: Альварес Паблишинг, 2004. С. 277-89.

3. Мухин К.Ю. Когнитивная эпилепти-формная дезинтеграция и схожие син-дромы. В кн.: Эпилептические энцефа-лопатии и схожие синдромы у детей. M.: АртСервис Лтд, 2011. C. 390-424.

4. Ноговицын В.Ю., Нестеровский Ю.Е., Осипова Г.Н. и др. Эпилептиформная активность у детей без эпилепсии: клинико-электроэнцефалографические корреляции. Журнал неврологии и психиатрии им. С.С. Корсакова 2006;6:42-6.

5. Akshoomoff N., Farid N., Courchesne E., Haas R. Abnormalities on the neurological examination and EEG in young children with pervasive developmental disorders. J Autism Dev Disord 2007;37(5):887-93. PMID: 17048091. DOI: 10.1007/s10803- 006-0216-9.

6. Amiet C., Gourfinkel-An I., Bouzamondo A. et al. Epilepsy in autism is associated with intellectual disability and gender: evidence from a meta-analysis. Biol Psychiatry 2008;64(7):577-82. PMID: 18565495. DOI: 10.1016/j.biopsych.2008.04.030.

7. Amiet C., Gourfinkel-An I., Laurent C. et al. Epilepsy in simplex autism pedigrees is much lower than the rate in multiplex autism pedigrees. Biol Psychiatry 2013;74(3):e3-4. PMID: 23507000. DOI: 10.1016/j.biopsych.2013.01.037.

8. Baird G., Robinson R.O., Boyd S., Char- man T. Sleep electroencephalograms in young children with autism with and without regression. Dev Med Child Neurol 2006;48(7):604-8. PMID: 16780632. DOI: 10.1017/S0012162206001265.

9. Berg A.T., Caplan R., Hesdorffer D.C. Psychiatric and neurodevelopmental disor¬ders in childhood-onset epilepsy. Epilepsy Behav 2011;20(3):550-5. PMID: 21315660. DOI: 10.1016/j.ye- beh.2010.12.038.

10. Berg A.T., Plioplys S., Tuchman R. Risk and correlates of autism spectrum disorder in children with epilepsy: a community- based study. J Child Neurol 2011;26(5):537—47. PMID: 21421903. DOI: 10.1177/0883073810384869.

11. Berg A.T., Langfitt J.T., Testa F.M. et al. Global cognitive function in children with epilepsy: a community-based study. Epi¬lepsia 2008;49(4):608-14. PMID: 18070088. DOI: 10.1111/j.1528-1167.2007.01461.x.

12. Berg A.T., Plioplys S. Epilepsy and autism: is there a special relationship? Epilepsy Behav 2012;23(3):193-8. PMID: 22381386.

13. Besag F.M.C. Epilepsy in patients with autism links, risks and treatment challeng¬es. Neuropsychiatr Dis Treat 2018;14:1—10. PMID: 29296085. DOI: 10.2147/NDT. S120509.

14. Bitton J.Y., Demos M., Elkouby K. et al. Does treatment have an impact on incidence and risk factors for autism spectrum disor¬ders in children with infantile spasms? Epi¬lepsia 2015;56(6):856—63. PMID: 25944453. DOI: 10.1111/epi.12997.

15. Bolton P.F., Park R.J., Higgins J.N. et al. Neuro-epileptic determinants of autism spectrum disorders in tuberous sclerosis complex. Brain 2002;125(Pt 6):1247-55. PMID: 12023313.

16. Bolton P.F., Carcani-Rathwell I., Hutton J. et al. Epilepsy in autism: features and cor¬relates. Br J Psychiatry J Ment Sci 2011;198(4):289—94. PMID: 21972278. DOI: 10.1192/bjp.bp.109.076877.

17. Bray P.F., Wiser W.C. Evidence for a ge-netic etiology of temporal-central abnor-malities in focal epilepsy. N Engl J Med 1964;271:926-33. PMID: 14197414. DOI: 10.1056/NEJM196410292711803.

18. Cavazzuti G.B., Cappella L., Nalin A. Longitudinal study of epileptiform EEG patterns in normal children. Epilepsia 1980;21(1):43—55. PMID: 6766393.

19. Chez M.G., Chang M., Krasne V. et al. Frequency of epileptiform EEG abnor-malities in a sequential screening of autis¬tic patients with no known clinical epilepsy from 1996 to 2005. Epilepsy Behav 2006;8(1):267—71. PMID: 16403678. DOI: 10.1016/j.yebeh.2005.11.001.

20. Clarke D.F., Roberts W., Daraksan M. et al. The prevalence of autistic spectrum disorder in children surveyed in a tertiary care epilepsy clinic. Epilepsia 2005;46(12):1970—7. PMID: 16393164. DOI: 10.1111/j.1528-1167.2005.00343.x.

21. Cohen D., Pichard N., Tordjman S. et al. Specific genetic disorders and autism: cli¬nical contribution towards their identifica¬tion. J Autism Dev Disord 2005;35(1):103—16. P MID: 15796126.

22. Corradi A., Fadda M., Piton A. et al. SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth. Hum Mol Genet 2014;23(1):90—103. PMID: 23956174. DOI: 10.1093/hmg/ ddt401.

23. Danielsson S., Gillberg I.C., Billstedt E. et al. Epilepsy in young adults with autism: a prospective population-based follow-up study of 120 individuals diagnosed in childhood. Epilepsia 2005;46(6):918—23. PMID: 15946331. DOI: 10.1111/j.1528-1167.2005.57504.x.

24. Danielsson S., Viggedal G., Steffenburg S. et al. Psychopathology, psychosocial func¬tioning, and IQ before and after epilepsy surgery in children with drug-resistant epi¬lepsy. Epilepsy Behav 2009;14(2):330-7. PMID: 19026763. DOI: 10.1016/j.ye- beh.2008.10.023.

25. Dawson A.J., Cox J., Hovanes K., Spriggs E. PWS/AS MS-MLPA confirms maternal origin of 15q11.2 microduplication. Case Rep Genet 2015;2015:474097.

26. Deonna T., Roulet-Perez E. Epilepsy and autistic disorders. In: The neuropsychiatry of epilepsy. Eds.: Trimble M., Schmitz B. 2nd edn. Cambridge University Press, 2011. Pp. 24-38.

27. De Rubeis S., He X., Goldberg A.P. et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 2014;515:209-15. PMID: 25363760. DOI: 10.1038/nature13772.

28. Diagnostic and Statistical Manual of Men¬tal Disorders. 5th edn. Arlington: Ameri¬can Psychiatric Association, 2013.

29. Doose H. EEG in childhood epilepsy. London: John Libbey Eurotext, 2003. Pp. 72-80.

30. Doose H., Brigger-Heuer B., Neubauer B. Children with focal sharp waves: clinical and genetic aspects. Epilepsia 1997;38(7):788—96. PMID: 9579906.

31. Doshi-Velez F., Ge Y., Kohane I. Comor¬bidity clusters in autism spectrum disor¬ders: an electronic health record time-se¬ries analysis. Pediatrics 2014;133(1):e54—63. PMID: 24323995. DOI: 10.1542/peds.2013-0819.

32. Ekinci O., Arman A.R., I§ik U. et al. EEG abnormalities and epilepsy in autistic spec¬trum disorders: clinical and familial correlates. Epilepsy Behav 2010;17(2): 178-82. PMID: 20042370. DOI: 10.1016/j.yebeh.2009.11.014.

33. Fisher B., Dezort C., Nordli D.R., Berg A.T. Routine developmental and au¬tism screening in an epilepsy care setting. Epilepsy Behav 2012;24(4):488-92. PMID: 22789633. DOI: 10.1016/j.ye- beh.2012.06.006.

34. Gabis L., Pomeroy J., Andriola M.R. Autism and epilepsy: cause, consequence, comorbidity, or coincidence? Epilepsy Behav 2005;7(4):652-6. PMID: 16246635. DOI: 10.1016/j.yebeh.2005.08.008.

35. Gkogkas C.G., Khoutorsky A., Ran I. et al. Autism-related deficits via dysregu- lated eIF4E-dependent translational con¬trol. Nature 2013;493(7432):371-7. PMID: 23172145. DOI: 10.1038/na- ture11628.

36. Hara H. Autism and epilepsy: a retrospec¬tive follow-up study. Brain Dev 2007;29(8):486-90. PMID: 17321709. DOI: 10.1016/j.braindev.2006.12.012.

37. Hartley-McAndrew M., Weinstock A. Autism spectrum disorder: correlation between aberrant behaviors, EEG abnor-malities and seizures. Neurol Int 2010;2(1):e10. PMID: 21577334. DOI: 10.4081/ni.2010.e10.

38. Hashimoto T., Sasaki M., Sugai K. et al. Paroxysmal discharges on EEG in young autistic patients are frequent in frontal re-gions. J Med Invest 2001;48(3—4):175—80. PMID: 11694957.

39. Helbig I., Scheffer I.E., Mulley J.C., Berkovic S.F. Navigating the channels and beyond: unravelling the genetics of the epi¬lepsies. Lancet Neurol 2008;7(3):231—45. PMID: 18275925. DOI: 10.1016/S1474- 4422(08)70039-5.

40. Holder J.L., Quach M.M. The spectrum of epilepsy and electroencephalographic ab¬normalities due to SHANK3 loss of func¬tion mutations. Epilepsia 2016;57(10):1651—9. PMID: 27554343. DOI: 10.1111/epi.13506.

41. Hughes J.R., Melyn M. EEG and seizures in autistic children and adolescents: fur-ther findings with therapeutic implications. Clin EEG Neurosci 2005;36(1):15—20. PMID: 15683193. DOI: 10.1177/155005940503600105.

42. Jeavons P.M. The Electro-encephalogram in blind children. Br J Ophthalmol 1964;48:83—101. PMID: 14189747.

43. Jeste S.S., Tuchman R. Autism spectrum disorder and epilepsy: two sides of the same coin? J Child Neurol 2015;30(14):1963—71. PMID: 26374786. DOI: 10.1177/0883073815601501.

44. Jeste S.S., Wu J.Y., Senturk D. et al. Early developmental trajectories associated with ASD in infants with tuberous sclerosis complex. Neurology 2014;83(2):160—8. PMID: 24920850. DOI: 10.1212/ WNL.0000000000000568.

45. Kanemura H., Aihara M., Aoki S. et al. Development of the prefrontal lobe in in-fants and children: a three-dimensional magnetic resonance volumetric study. Brain Dev 2003;25(3):195e9. PMID: 12689699.

46. Kanemura H., Sano F., Tando T. et al. Can EEG characteristics predict development of epilepsy in autistic children? Eur J Pae- diatr Neurol 2013;17(3):232—7. PMID: 23122323. DOI: 10.1016/j. ejpn.2012.10.002.

47. Kanner L. Follow-up study of eleven autis¬tic children originally reported in 1943. J Autism Child Schizophr 1971;1(2):119—45.

48. Kawasaki Y., Yokota K., Shinomiya M. et al. Brief report. Electroenchephalo- graphic paroxysmal activities in the frontal area emerged in middle childhood and during adolescence in a follow-up study of autism. J Autism Dev Disord 1997;27(5):605—20. PMID: 9403375.

49. Kim H.L., Donelly J.H., Nournay A.E. et al. Absence of seizures despite high prevalence of epileptiform EEG abnor-malities in children with autism monitored in a tertiary care center. Epilepsia 2006;47(2):394—8. PMID: 16499766. DOI: 10.1111/j.1528-1167.2006.00434.x.

50. Kurokawa T., Yokomizo Y., Lee S., Kusu- da T. Clinical features of epilepsy with per¬vasive developmental disorder. Brain Dev 2010;32:764e8. PMID: 20708864. DOI: 10.1016/j.braindev.2010.05.008.

51. Levy S.E., Giarelli E., Lee L.C. et al. Autism spectrum disorder and co-occur-ring developmental, psychiatric, and medi¬cal conditions among children in multiple populations of the United States. J Dev Behav Pediatr 2010;31(4):267—75. PMID: 20431403. DOI: 10.1097/ DBP.0b013e3181d5d03b.

52. Matsuo M., Maeda T., Sasaki K. et al. Fre¬quent association of autism spectrum dis¬order in patients with childhood onset epi¬lepsy. Brain Dev 2010;32(9):759—63. PMID: 20542395. DOI: 10.1016/j.brain- dev.2010.05.005.

53. McCue L., Flick L., Twyman K. et al. Prevalence of non-febrile seizures in chil¬dren with idiopathic autism spectrum dis¬order and their unaffected siblings: a retro¬spective cohort study. BMC Neurol 2016;16(1):245. PMID: 27894273. DOI: 10.1186/s12883-016-0764-3.

54. Miles J.H., Takahashi T.N., Bagby S. et al. Essential versus complex autism: Defini¬tion of fundamental prognostic subtypes. Am J Med Genet 2005;135(2):171—80. PMID: 15887228. DOI: 10.1002/ ajmg.a.30590.

55. Miyajima T., Kimura N., Kumada T. et al. Epilepsy in pervasive developmental disor¬der without brain MRI abnormalities. Brain Dev 2011;33(6):504e7. PMID: 20863637. DOI: 10.1016/j.brain- dev.2010.08.014.

56. Oslejskova H., Dusek L., Makovska A. et al. Complicated relationship between autism with regression and epilepsy. Neu- roendocrinol Lett 2008;29(4):558—70. PMID: 18766162.

57. Paciorkowski A.R., Thio L.L., Rosenfeld J.A. et al. Copy number variants and infantile spasms: evidence for abnormalities in ven¬tral forebrain development and pathways of synaptic function. Eur J Hum Genet 2011;19(12):1238—45. PMID: 21694734. DOI: 10.1038/ejhg.2011.121.

58. Parmeggiani A., Barcia G., Posar A. Epi¬lepsy and EEG paroxysmal abnormalities in autism spectrum disorders. Brain Dev 2010;32(9):783—9. PMID: 20691552. DOI: 10.1016/j.braindev.2010.07.003.

59. Pavone P., Incorpora G., Fiumara A. et al. Epilepsy is not a prominent feature of primary autism. Neuropediatrics 2004;35(4):207—10. PMID: 15328558. DOI: 10.1055/s-2004-821079.

60. Pavone P., Striano P., Falsaperla R. et al. Infantile spasms syndrome, West syndrome and related phenotypes: what we know in 2013. Brain Dev 2014;36(9):739—51. PMID: 24268986. DOI: 10.1016/j.brain- dev.2013.10.008.

61. Plioplys S., Dunn D.W., Caplan R. 10-year research update review: psychiatric problems in children with epilepsy. J Am Acad Child Adolesc Psychiatry 2007;46(11):1389—402. PMID: 18049289. DOI: 10.1097/chi.0b013e31815597fc.

62. Rantanen K., Eriksson K., Nieminen P. Cognitive impairment in preschool chil-dren with epilepsy. Epilepsia 2011;52(8):1499—505. PMID: 21569019. DOI: 10.1111/j.1528-1167.2011.03092.x.

63. Reilly C., Atkinson P., Das K.B. et al. Neurobehavioral comorbidities in children with active epilepsy: a population-based study. Pediatrics 2014;133(6):e1586—93. PMID: 24864167. DOI: 10.1542/ peds.2013-3787.

64. Robert С., Pasquier L., David D. et al. Role of genetics in the etiology of autistic spectrum disorder: towards a hierarchical diagnostic strategy. Int J Mol Sci 2017;18(3):618. PMID: 28287497. DOI: 10.3390/ijms18030618.

65. Rossi P.G., Posar A., Parmeggiani A. Epi-lepsy in adolescents and young adults with autistic disorder. Brain Dev 2000;22(2):102—6. PMID: 10722961.

66. Rosti R.O., Sadek A.A., Vaux K.K., Glee- son J.G. The genetic landscape of autism spectrum disorders. Dev Med. Child Neu¬rol 2014;56(1):12—8. PMID: 24116704. DOI: 10.1111/dmcn.12278.

67. Russ S.A., Larson K., Halfon N. A natio¬nal profile of childhood epilepsy and sei¬zure disorder. Pediatrics 2012;129(2):256—64. PMID: 22271699. DOI: 10.1542/ peds.2010-1371.

68. Rutter M., Lockyer L.A. A five to fifteen follow-up study of infantile psychosis. I. Description of sample. Br J Psychiatry 1967;113(504):1169—82. PMID: 6075451.

69. Saemundsen E., Ludvigsson P., Rafnsson V. Risk of autism spectrum disorders after in¬fantile spasms: A population-based study nested in a cohort with seizures in the first year of life. Epilepsia 2008;49(11): 1865-70. PMID: 18557779. DOI: 10.1111/j.1528-1167.2008.01688.x.

70. Sanders S.J., Murtha M.T., Gupta A.R. et al. De novo mutations revealed by whole-exome sequencing are strongly as-sociated with autism. Nature 2012;485(7397):237-41. PMID: 22495306. DOI: 10.1038/na- ture10945.

71. Sansa G., Carlson C., Doyle W. et al. Medically refractory epilepsy in autism. Epilepsia 2011;52(6):1071—5. PMID: 21671922. DOI: 10.1111/j.1528-1167.2011.03069.x.

72. Schaefer G.B. Clinical genetic aspects of autism spectrum disorders. Int J Mol Sci 2016;17(2):180. PMID: 26840296. DOI: 10.3390/ijms17020180.

73. Sener E.F., Canatan H., Ozkul Y. Recent advances in autism spectrum disorders: ap¬plications of whole exome sequencing technology. Psychiatry Invest 2016;13(3):255—64.

74. Srivastava S., Sahin M. Autism spectrum disorder and epileptic encephalopathy: common causes, many questions. J Neu- rodev Disord 2017;9:23. PMID: 28649286. DOI: 10.1186/s11689-017-9202-0.

75. Steinman K.J., Spence S.J., Ramocki M.B. et al. 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort. Am J Med Genet 2016;170(11):2943—55. DOI: 10.1002/ajmg.a.37820.

76. Strasser L., Downes M., Kung J. et al. Prevalence and risk factors for autism spectrum disorder in epilepsy: a systematic review and meta-analysis. Dev Med Child Neurol 2018;60(1):19—29. PMID: 29119560. DOI: 10.1111/dmcn.13598.

77. Tordjman S., Cohen D., Anderson G.M. et al. Reframing autism as a behavioral syndrome and not a specific mental disor¬der: Implications of genetic and pheno¬typic heterogeneity. Neurosci Biobehav Rev 2017;80:210. PMID: 28153685. DOI: 10.1016/j.neubiorev.2017.01.030.

78. Unal O., Ozcan O., Oner O. et al. EEG and MRI findings and their relation with intellectual disability in pervasive develop¬mental disorders. World J Pediatr 2009;5(3):196—200. PMID: 19693463. DOI: 10.1007/s12519-009-0037-y.

79. Varcin K., Nelson C.A., Ko J. et al. Visual evoked potentials as a readout of cortical function in infants with tuberous sclerosis complex. J Child Neurol 2016;31(2):195— 202. PMID: 26018199. DOI: 10.1177/0883073815587328.

80. Vasconcellos E., Wyllie E., Sullivan S. et al. Mental retardation in pediatric can-didates for epilepsy surgery: the role of early seizure onset. Epilepsia 2001;42(2): 268—74. PMID: 11240601.

81. Viscidi E.W., Johnson A.L., Spence S.J. et al. The association between epilepsy and autism symptoms and maladaptive behaviors in children with Autism Spectrum Disorder. Autism 2014;18(8):996—1006.

82. Viscidi E.W, Triche E.W., Pescosolido M.F. et al. Clinical characteristics of children with autism spectrum disorder and co-oc¬curring epilepsy. PLoS One 2013;8(7):e677—97.

83. Warwick T.C., Griffith J., Reyes B. et al. Effects of vagus nerve stimulation in a pa¬tient with temporal lobe epilepsy and As¬perger syndrome: case report and review of the literature. Epilepsy Behav 2007;10(2):344—7. PMID: 17300990. DOI: 10.1016/j.yebeh.2007.01.001.

84. White P.T., DeMyer W., DeMyer M. EEG abnormalities in early childhood schizophrenia; A double-blind study of psychiatrically disturbed and normal children during promazine sedation. Am J Psychiatry 1964;120:950—8. PMID: 14138845. DOI: 10.1176/ajp.120.10.950.

85. Wong M. Animal models of focal cortical dysplasia and tuberous sclerosis complex: recent progress toward clinical applica¬tions. Epilepsia 2009;50(Suppl 9):34—44. PMID: 19761452. DOI: 10.1111/j.1528-1167.2009.02295.x.

86. Wong M. Mammalian target of rapamycin (mTOR) activation in focal cortical dys-plasia and related focal cortical malforma¬tions. Exp Neurol 2013;244:22—26. PMID: 22015915. DOI: 10.1016/j.expneu- rol.2011.10.002.

87. Yasuhara A. Correlation between EEG ab¬normalities and symptoms of autism spec¬trum disorder (ASD). Brain Dev 2010;32(10):791—8. PMID: 20826075. DOI: 10.1016/j.braindev.2010.08.010


Для цитирования:


Кузьмич Г.В., Синельникова А.Н. Коморбидность аутизма и эпилепсии. Взгляд с точки зрения онтогенеза. Русский журнал детской неврологии. 2018;13(4):40-52. https://doi.org/10.17650/2073-8803-2018-13-4-40-52

For citation:


Kuzmich G.V., Sinelnikova A.N. Comorbidity between epilepsy and autism from the point of view of ontogenesis. Russian Journal of Child Neurology. 2018;13(4):40-52. (In Russ.) https://doi.org/10.17650/2073-8803-2018-13-4-40-52

Просмотров: 135


Creative Commons License
Контент доступен под лицензией Creative Commons Attribution 4.0 License.


ISSN 2073-8803 (Print)
ISSN 2412-9178 (Online)