Этиология расстройств аутистического спектра ³²⁸⁶

Расстройства аутистического спектра представляют собой распространённую и поэтому актуальную проблему. Существует немалое количество теорий, касающихся причин возникновения аутизма: как социальных, так и биологических. В данной статье освещены различные исследования этиологии аутизма/аутистичности в зарубежной литературе. Описаны исследования генетических и пренатальных факторов, равно как и факторов, связанных со строением и функционированием нервной и иммунной систем и работой ЖКТ, потенциально объясняющих некоторые симптомы данного спектра личностных расстройств.

Ключевые слова: аутизм, аутистичность, расстройства аутистического спектра, этиология аутизма, этиология аутистичности, факторы воздействия

Рубрика: Клиническая психология

Тип: научная статья

1. A clinicopathological study of autism / Bailey A. [et al.] // Brain. 1998. Vol. 121, № 5. P. 889–905.
2. A novel functional brain imaging endophenotype of autism: the neural response to facial expression of emotion / Spencer M.D. [et al.] // Transl Psychiatry. 2011. Vol. 1, e19. P. 1–7. doi: 10.1038/tp.2011.18.
3. A vaccine and diagnostic target for Clostridium bolteae, an autism-associated bacterium / Pequegnat B. [et al.] // Vaccine. 2013. Vol. 31, № 26. P. 2787–2790. doi: 10.1016/j.vaccine.2013.04.018.
4. Abnormal intestinal permeability in children with autism / D'Eufemia P. [et al.] // Acta Paediatr. 1996. Vol. 85, № 9. P. 1076–1079.
5. Abrahams B.S., Geschwind D.H. Advances in autism genetics: on the threshold of a new neurobiology // Nat Rev Genet. 2008. Vol. 9, № 5. P. 341–355.
6. Accelerated maturation of white matter in young children with autism: a high b value DWI study / Ben Bashat D. [et al.] // Neuroimage. 2007. Vol. 37, № 1. P. 40–47.
7. Advancing Maternal Age Is Associated With Increasing Risk for Autism: A Review and Meta-Analysis / Sandin S. [et al.] // Journal of the American Academy of Child & Adolescent Psychiatry. 2012. Vol. 51, № 5, e471. P. 477–486..
8. Advancing paternal age and autism / A. Reichenberg [et al.] // Archives of Genetic Psychiatry. 2006. Vol. 63, № 9. P. 1026–1032. doi: 10.1001/archpsyc.63.9.1026.
9. Antibodies to neuron-specific antigens in children with autism: possible cross-reaction with encephalitogenic proteins from milk, Chlamydia pneumoniae and Streptococcus group A / Vojdani A. [et al.] // J Neuroimmunol. 2002. Vol. 129, № 1–2. P. 168–177.
10. Anti-brain antibodies are associated with more severe cognitive and behavioral profiles in Italian children with Autism Spectrum Disorder / Piras I.S. [et al.] // Brain, behavior, and immunity. 2014. Vol. 38. P. 91–99. doi: 10.1016/j.bbi.2013.12.020.
11. Application of Novel PCR-Based Methods for Detection, Quantitation, and Phylogenetic Characterization of Sutterella Species in Intestinal Biopsy Samples from Children with Autism and Gastrointestinal Disturbances [Electronic resource] / Williams B.L. [et al.] // mBio. 2012. Vol. 3, № 1, e00261–00211. doi: 10.1128/mBio.00261-11. URL: http://mbio.asm.org/content/3/1/e00261-11.full.pdf& (дата обращения: 15.12.2014).
12. Arousal and Childhood Autism / Hutt, C. [et al.] // Nature. 1964. Vol. 204, № 4961. P. 908–909.
13. Asperger H. Die ‘Autistischen Psychopathen’ im Kindesalter // Archiv fur Psychiatrie und Nervenkrankheiten. 1944. Vol. 117, № 1ю P. 76–136.
14. Atypical reflexive gaze patterns on emotional faces in autism spectrum disorders / Kliemann D. [et al.] // J. Neurosci. 2010. Vol. 30, № 37. P. 12281–12287. doi: 10.1523/jneurosci.0688-10.2010.
15. Autism as a strongly genetic disorder: evidence from a British twin study / Bailey A. [et al.] // Psychol Med. 1995. Vol. 25, № 1. P. 63–77.
16. Autism in thalidomide embriopathy: a population study / Strömland, K. [et al.] // Developmental Medicine & Child Neurology. 1994. Vol. 36, № 4. P. 351–356. doi: 10.1111/j.1469-8749.1994.tb11856.x.
17. Autism prevalence following prenatal exposure to hurricanes and tropical storms in Louisiana / Kinney D.K. [et al.] // J. Autism Dev Disord. 2008. Vol. 38, № 3. P. 481–488. doi: 10.1007/s10803-007-0414-0.
18. Autism, Asperger syndrome and brain mechanisms for the attribution of mental states to animated shapes / Castelli F. [et al.] // Brain. 2002. Vol. 125, № 8. P. 1839–1849.
19. Behavioral Correlates of Maternal Antibody Status Among Children with Autism / Braunschweig D. [et al.] // Journal of Autism and Developmental Disorders. 2012. Vol. 42, № 7. P. 1435–1445. doi: 10.1007/s10803-011-1378-7.
20. Bleuler E. Dementia Praecox oder Gruppe der Schizophrenien // Handbuch der Psychiatrie / Ed. G. Aschaffenburg. 1911, Leipzig: Deuticke. P. 1–420.
21. Brain-Specific Autoantibodies in the Plasma of Subjects with Autistic Spectrum Disorder / Cabanlit M. [et al.] // Annals of the New York Academy of Sciences. 2007. Vol. 1107, № 1. P. 92–103. doi: 10.1196/annals.1381.010.
22. Cannell J.J. Autism and vitamin D // Med Hypotheses. 2008. Vol. 70, № 4. P. 750–759. doi: 10.1016/j.mehy.2007.08.016.
23. Cerebral Lobes in Autism: Early Hyperplasia and Abnormal Age Effects / Carper R.A. [et al.] // NeuroImage. 2002. Vol. 16, № 4. P. 1038–1051. doi: https://doi.org/10.1006/nimg.2002.1099.
24. Circulating autoantibodies to neuronal and glial filament proteins in autism / Singh V.K. [et al.] // Pediatr Neurol. 1997. Vol. 17, № 1. P. 88–90.
25. Corpus Callosum Morphometrics in Young Children with Autism Spectrum Disorder / Boger-Megiddo I. [et al.] // Journal of Autism and Developmental Disorders. 2006. Vol. 36, № 6. P. 733–739. doi: 10.1007/s10803-006-0121-2.
26. Cortical activation and synchronization during sentence comprehension in high-functioning autism: evidence of underconnectivity / Just M.A. [et al.] // Brain. 2004. Vol. 127, № Pt 8. P. 1811–1821. doi: 10.1093/brain/awh199.
27. Cortical underconnectivity coupled with preserved visuospatial cognition in autism: Evidence from an fMRI study of an embedded figures task / Damarla S.R. [et al.] // Autism Research. 2010. Vol. 3, № 5. P. 273–279.
28. Courchesne E., Pierce K. Why the frontal cortex in autism might be talking only to itself: local over-connectivity but long-distance disconnection // Current Opinion in Neurobiology. 2005. Vol. 15, № 2. P. 225–230. doi: https://doi.org/10.1016/j.conb.2005.03.001.
29. Crespi B., Badcock C. Psychosis and autism as diametrical disorders of the social brain // Behav Brain Sci. 2008. Vol. 31, № 3. P. 241–261; discussion 261–320. doi: 10.1017/s0140525x08004214.
30. Croen L.A., Grether J.K., Selvin S. Descriptive epidemiology of autism in a California population: who is at risk? // J Autism Dev Disord. 2002. Vol. 32, № 3. P. 217–224.
31. Decreased transforming growth factor beta1 in autism: A potential link between immune dysregulation and impairment in clinical behavioral outcomes / Ashwood P. [et al.] // Journal of Neuroimmunology. 2008. Vol. 204, № 1. P. 149–153. . doi: 10.1016/j.jneuroim.2008.07.006.
32. Denney D.R., Frei B.W., Gaffney G.R. Lymphocyte subsets and interleukin-2 receptors in autistic children // J Autism Dev Disord. 1996. Vol. 26, № 1. P. 87–97.
33. Differential activation of the amygdala and the 'social brain' during fearful face-processing in Asperger Syndrome / Ashwin C. [et al.] // Neuropsychologia. 2007. Vol. 45, № 1. P. 2–14. doi: 10.1016/j.neuropsychologia.2006.04.014.
34. Diffusion tensor imaging of the corpus callosum in Autism / Alexander A.L. [et al.] // NeuroImage. 2007. Vol. 34, № 1. P. 61–73. doi: https://doi.org/10.1016/j.neuroimage.2006.08.032.
35. Electrodermal reactivity to emotion processing in adults with autistic spectrum disorders / Hubert B.E. [et al.] // Autism. 2009. Vol. 13, № 1. P. 9–19.
36. Elevated immune response in the brain of autistic patients / Li X. [et al.] // J Neuroimmunol. 2009. Vol. 207, № 1–2. P. 111–116.
37. Elevated plasma cytokines in autism spectrum disorders provide evidence of immune dysfunction and are associated with impaired behavioral outcome / Ashwood P. [et al.] // Brain Behav Immun. 2011. Vol. 25, № 1. P. 40–45. doi: 10.1016/j.bbi.2010.08.003.
38. FMRI Investigation of Working Memory for Faces in Autism: Visual Coding and Underconnectivity with Frontal Areas / Koshino, H. [et al.] // Cerebral Cortex. 2008. Vol. 18, № 2. P. 289–300.
39. Functional and Anatomical Cortical Underconnectivity in Autism: Evidence from an fMRI Study of an Executive Function Task and Corpus Callosum Morphometry / Just M.A. [et al.] // Cerebral Cortex. 2007. Vol. 17, № 4. P. 951–961.
40. Functional Connectivity of the Inferior Frontal Cortex Changes with Age in Children with Autism Spectrum Disorders: A fcMRI Study of Response Inhibition / Lee P.S. [et al.] // Cerebral Cortex. 2009. Vol. 19, № 8. P. 1787–1794.
41. Gastrointestinal flora and gastrointestinal status in children with autism – comparisons to typical children and correlation with autism severity [Electronic resource] / Adams J.B. [et al.] // BMC Gastroenterol. 2011. Vol. 11. doi: 10.1186/1471-230x-11-22. URL: http://www.biomedcentral.com/content/pdf/1471-230X-11-22.pdf (дата обращения: 15.12.2014).
42. Gastrointestinal Symptoms in a Sample of Children with Pervasive Developmental Disorders / Nikolov R. [et al.] // Journal of Autism and Developmental Disorders. 2009. Vol. 39, № 3. P. 405–413. doi: 10.1007/s10803-008-0637-8.
43. Gaze fixation and the neural circuitry of face processing in autism / Dalton K.M. [et al.] // Nat Neurosci. 2005. Vol. 8, № 4. P. 519–526. doi: 10.1038/nn1421.
44. Genetics and child psychiatry: II Empirical research findings / Rutter M. [et al.] // J Child Psychol Psychiatry. 1999. Vol. 40, № 1. P. 19–55.
45. Gillberg C., Schaumann H., Gillberg I.C. Autism in immigrants: children born in Sweden to mothers born in Uganda // Journal of Intellectual Disability Research. 1995. Vol. 39, № 2. P. 141–144. doi: 10.1111/j.1365-2788.1995.tb00482.x.
46. Gray and white matter imbalance – typical structural abnormality underlying classic autism? / Bonilha L. [et al.] // Brain Dev. 2008. Vol. 30, № 6. P. 396–401. doi: 10.1016/j.braindev.2007.11.006.
47. Hirstein W., Iversen P., Ramachandran V.S. Autonomic responses of autistic children to people and objects // Proceedings of the Royal Society of London B: Biological Sciences. 2001. Vol. 268, № 1479. P. 1883–1888.
48. Horvath K., Perman J.A. Autism and gastrointestinal symptoms // Curr Gastroenterol Rep. 2002. Vol. 4, № 3. P. 251–258.
49. Hsiao E.Y. Gastrointestinal issues in autism spectrum disorder // Harv Rev Psychiatry. 2014. Vol. 22, № 2. P. 104–111. doi: 10.1097/hrp.0000000000000029.
50. Hultman C.M., Sparén P., Cnattingius S. Perinatal risk factors for infantile autism [Electronic resource] // Epidemiology. 2002. Vol. 13, № 4, P. 417–423. URL: http://journals.lww.com/epidem/Abstract/2002/07000/Perinatal_Risk_Factors_for_Infantile_Autism.9.aspx (дата обращения: 15.12.2014).
51. Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders / Jones J.R. [et al.] // Am J Med Genet A. 2008. Vol. 146A, № 17. P. 2213–2220.
52. Identification of MeCP2 mutations in a series of females with autistic disorder / Carney R.M. [et al.] // Pediatr Neurol. 2003. Vol. 28, № 3. P. 205–211.
53. Immune abnormalities in patients with autism / Warren, R.P., et al. // J Autism Dev Disord. 1986. Vol. 16, № 2. P. 189–197.
54. Immune transcriptome alterations in the temporal cortex of subjects with autism / Garbett K. [et al.] // Neurobiol Dis. 2008. Vol. 30, № 3. P. 303–311. doi: 10.1016/j.nbd.2008.01.012.
55. Increased trinucleotide repeat instability with advanced maternal age / Kaytor M.D. [et al.] // Hum Mol Genet. 1997. Vol. 6, № 12. P. 2135–2139.
56. Jyonouchi H., Sun S., Itokazu N. Innate immunity associated with inflammatory responses and cytokine production against common dietary proteins in patients with autism spectrum disorder // Neuropsychobiology. 2002. Vol. 46, № 2. P. 76–84.
57. Kanner L. Autistic disturbances of affective contact // Nervous Child. 1943. Vol. 2. P. 217–250.
58. Maternal antibrain antibodies in autism / Zimmerman A.W. [et al.] // Brain Behav Immun. 2007. Vol. 21, № 3. P. 351–357. doi: 10.1016/j.bbi.2006.08.005.
59. Maternal autoantibodies are associated with abnormal brain enlargement in a subgroup of children with autism spectrum disorder / Nordahl C.W. [et al.] // Brain Behav Immun. 2013. Vol. 30, P. 61–65. doi: 10.1016/j.bbi.2013.01.084.
60. Mathersul D., McDonald S., Rushby J.A. Automatic facial responses to briefly presented emotional stimuli in autism spectrum disorder // Biological Psychology. 2013. Vol. 94, № 2. P. 397–407. doi: https://doi.org/10.1016/j.biopsycho.2013.08.004.
61. Mayer E.A. Gut feelings: the emerging biology of gut-brain communication // Nature reviews. Neuroscience. 2011. Vol. 12, № 8. P. 453–466. doi: https://doi.org/10.1038/nrn3071.
62. Mehta S.Q., Nurmi E.L. Genetic pathways to autism spectrum disorders // Neuropsychiatry. 2013. Vol. 3, № 2. P. 193–207. doi: 10.2217/npy.13.16.
63. Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism / Sanders S. J. [et al.] // Neuron. 2011. Vol. 70, № 5. P. 863–885. doi: 10.1016/j.neuron.2011.05.002.
64. Neul, J.L. The relationship of Rett syndrome and MECP2 disorders to autism // Dialogues in Clinical Neuroscience. 2012. Vol. 14, № 3. P. 253–262.
65. Neural activation to emotional faces in adolescents with autism spectrum disorders / Weng S.J. [et al.] // J. Child Psychol Psychiatry. 2011. Vol. 52, № 3. P. 296–305. doi: 10.1111/j.1469-7610.2010.02317.x.
66. Neural correlates of facial affect processing in children and adolescents with autism spectrum disorder / Wang A.T. [et al.] // J Am Acad Child Adolesc Psychiatry. 2004. Vol. 43, № 4. P. 481–490. doi: 10.1097/00004583-200404000-00015.
67. Neuron number and size in prefrontal cortex of children with autism / Courchesne E. [et al.] // JAMA. 2011. Vol. 306, № 18. P. 2001–2010. doi: 10.1001/jama.2011.1638.
68. Penrose L.S. Parental Age and Mutation // The Lancet. 1955. Vol. 266, № 6885. P. 312–313. doi: 10.1016/S0140-6736(55)92305-9.
69. Perinatal factors and the development of autism: A population study / Glasson E.J. [et al.] // Archives of General Psychiatry. 2004. Vol. 61, № 6. P. 618–627. doi: 10.1001/archpsyc.61.6.618.
70. Physiologic arousal to social stress in children with Autism Spectrum Disorders: A pilot study / Levine T.P. [et al.] // Research in Autism Spectrum Disorders. 2012. Vol. 6, № 1. P. 177–183. doi: https://doi.org/10.1016/j.rasd.2011.04.003.
71. Prevalence of autism in Missouri: changing trends and the effect of a comprehensive state autism project / Hillman R.E. [et al.] // Mo Med. 2000. Vol. 97, № 5. P. 159–163.
72. Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses / Gilman S.R. [et al.] // Neuron. 2011. Vol. 70, № 5. P. 898–907. doi: 10.1016/j.neuron.2011.05.021.
73. Reading affect in the face and voice: Neural correlates of interpreting communicative intent in children and adolescents with autism spectrum disorders / Wang A. [et al.] // Archives of General Psychiatry. 2007. Vol. 64, № 6. P. 698–708. doi: 10.1001/archpsyc.64.6.698.
74. Reduced functional connectivity between V1 and inferior frontal cortex associated with visuomotor performance in autism / Villalobos M.E. [et al.] // NeuroImage. 2005. Vol. 25, № 3. P. 916–925. doi: https://doi.org/10.1016/j.neuroimage.2004.12.022.
75. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots / Wan M. [et al.] // Am J Hum Genet. 1999. Vol. 65, № 6. P. 1520–1529. doi: 10.1086/302690.
76. Riby D.M., Whittle L., Doherty-Sneddon G. Physiological reactivity to faces via live and video-mediated communication in typical and atypical development // Journal of Clinical and Experimental Neuropsychology. 2012. Vol. 34, № 4. P. 385–395. doi: 10.1080/13803395.2011.645019.
77. Risk Factors for Autism: Perinatal Factors, Parental Psychiatric History, and Socioeconomic Status / Larsson H.J. [et al.] // American Journal of Epidemiology. 2005. Vol. 161, № 10. P. 916–925. doi: 10.1093/aje/kwi123.
78. Roman G.C. Autism: transient in utero hypothyroxinemia related to maternal flavonoid ingestion during pregnancy and to other environmental antithyroid agents // J Neurol Sci. 2007. Vol. 262, № 1–2. P. 15–26. doi: 10.1016/j.jns.2007.06.023.
79. Samsam M., Ahangari R., Naser S.A. Pathophysiology of autism spectrum disorders: Revisiting gastrointestinal involvement and immune imbalance // World Journal of Gastroenterology : WJG. 2014. Vol. 20, № 29. P. 9942–9951. doi: 10.3748/wjg.v20.i29.9942.
80. Sentence comprehension in autism: thinking in pictures with decreased functional connectivity / Kana R.K. [et al.] // Brain. 2006. Vol. 129, № 9. P. 2484–2493.
81. Short-term benefit from oral vancomycin treatment of regressive-onset autism / Sandler R.H. [et al.] // J Child Neurol. 2000. Vol. 15, № 7. P. 429–435.
82. Singh V.K., Singh E.A., Warren R.P. Hyperserotoninemia and serotonin receptor antibodies in children with autism but not mental retardation // Biol Psychiatry. 1997. Vol. 41, № 6. P. 753–755. : 10.1016/s0006–3223(96)00522–7.
83. Social-cognitive, physiological, and neural mechanisms underlying emotion regulation impairments: understanding anxiety in autism spectrum disorder / White S.W. [et al. ] // International Journal of Developmental Neuroscience. 2014. Vol. 39, № 0. P. 22–36. doi: https://doi.org/10.1016/j.ijdevneu.2014.05.012.
84. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome / Neul J.L. [et al.] // Neurology. 2008. Vol. 70, № 16. P. 1313–1321. doi: 10.1212/01.wnl.0000291011.54508.aa.
85. Structural Variation of Chromosomes in Autism Spectrum Disorder / Marshall C.R. [et al.] // The American Journal of Human Genetics. 2008. Vol. 82, № 2. P. 477–488. doi: https://doi.org/10.1016/j.ajhg.2007.12.009.
86. Stubbs E.G., Crawford M.L. Depressed lymphocyte responsiveness in autistic children // J. Autism Child Schizophr. 1977. Vol. 7, № 1. P. 49–55.
87. The functional neuroanatomy of social behaviour: changes in cerebral blood flow when people with autistic disorder process facial expressions / Critchley H.D. [et al.] // Brain. 2000. Vol. 123 ( Pt 11), № P. 2203–2212.
88. Warren R.P., Foster A.N.N., Margaretten N.C. Reduced Natural Killer Cell Activity in Autism // Journal of the American Academy of Child & Adolescent Psychiatry. 1987. Vol. 26, № 3. P. 333–335. doi: https://doi.org/10.1097/00004583-198705000-00008.