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Autisms


Authors: H. Ošlejšková;  J. Pejčochová
Authors‘ workplace: Klinika dětské neurologie LF MU a FN Brno
Published in: Cesk Slov Neurol N 2010; 73/106(6): 627-642
Category: Minimonography

Overview

Autism is a complex, serious and biologically-based disorder of the development of the brain. Its clinical picture involves characteristic social deficits, abnormalities in interpersonal communication, repetitive behaviour and cognitive inflexibility. It is currently understood as a clinically and aetiologically extremely heterogeneous spectrum of cognitive-behavioural and emotional symptoms with various expressions of respective severity. So far there exists no specific biochemical indicator or neuro-anatomical abnormality by which it might be identified explicitly. The disorder diagnosis continues to be based on clinical and behavioural assessment and on MKN-10 criteria or DSM-IV classifications. Genetic, epigenetic as well as environmental factors play their roles in the aetiology of the disease. In spite of a great number of research contributions, the core symptoms remain inaccessible to pharmacology, with therapeutic possibilities limited to educational and cognitive-behavioural interventions. This paper provides a brief and didactic overview of the disorder: historical aspects of the development of the concept of autism; the nomenclature used; diagnostic methods and classification systems; new insights into clinical manifestations; and aetiology and therapeutic possibilities.

Key words:
autizm – autistic spectrum disorders – pervasive developmental disorders – broader autistic phenotype – autistic-like phenotype


Sources

1. Bailey A, Parr J. Implications of the broader phenotype for concepts of autism. In: Novartis Foundation. Autism: neural basis and treatment possibilities. Ontario: John Willey & Sons Ltd 2003: 26–47.

2. Rapin I, Tuchman R. Where we are: Overview and definitions. In: Tuchman R, Rapin I (eds). Autism: a neurological disorder of early brain development. London: Mac Keith Press 2006: 1–18.

3. American Academy of Pediatrics. Committee on Children with Disabilities. The pediatrician’s role in the diagnosis and management of autistic spectrum disorders in children. Pediatrics 2000; 107: ­1221–1226.

4. Mezinárodní klasifikace nemocí. Duševní poruchy a poruchy chování. Popisy klinických příznaků a dia­gnostická vodítka. 10. revize. Praha: Psychiatrické centrum 1992.

5. American Psychiatric Association. Diagnostic and Statistic Manual of Mental Disorders. 4th ed. ­Washington DC: American Psychiatric Association 1994.

6. Volkmar FR, Cicchetti DV, Bregman J, Cohen DJ. Three diagnostic systems for autism: DSM-III, ­DSM-III-R, and ICD-10. J Autism Dev Disord 1992; 22(4): 483–492.

7. Kanner L. Autistic disturbances of affective contact. Nerv Child 1943; 2: 217–250.

8. Asperger H. Autistic psychopathy in childhood. In: Frith CD, Frith U (eds). Autism and Asperger syndrome. Cambridge: Cambridge University Press 1991: 37–92.

9. American Psychiatric Association. Diagnostic and Statistic Manual of Mental Disorders. 3rd ed. Washington DC: American Psychiatric Association 1980.

10. DeMyer M, Hingtgen JN, Jackson RK. Infantile autism reviewed: a decade of research. Schizophr Bull 1981; 7(3): 388–451.

11. Wing L. Asperger’s syndrome: a clinical account. Psychol Med 1981; 11(1): 115–129.

12. Wing L. The continuum of autistic disorders. In: Schiller E, Mesibov GM (eds). Diagnosis and assessment in autism. New York: Plenum Press 1988.

13. Filipek PA. Autistic spectrum disorders. In: Swaiman KF, Aswal S (eds). Pediatric neurology: principles and practice. 3rd ed. St. Louis: Mosby 1999: 606–628.

14. Rapin I, Tuchman RF. What is new in autism? Curr Opin Neurol 2008; 21(2): 143–149.

15. Fombonne E. Epidemiologic studies of the pervasive developmental disorders. In: Volkmar FR, Paul R, Klin A et al (eds). Handbook of Autism and Pervasive Developmental Disorders. 3rd ed. New York: John Wiley 2005: 42–69.

16. Fombonne E. Epidemiology of pervasive developmental disorders. Pediatr Res 2009; 65(6): 591–598.

17. Charman T. Epidemiology and early identification of autism: research challenges and opportunities. In: Novartis Foundation. Autism: Neural basis and treatment possibilities. Ontario: John Willey & Sons Ltd. 2003: 10–25.

18. Caronna EB, Milunsky JM, Tager-Flusberg H. Autism spectrum disorders: clinical and research frontiers. Arch Dis Child 2008; 93(6): 518–523.

19. Wing L, Potter D. The epidemiology of autistic spectrum disorders: is the prevalence rising? Ment Retard Dev Disabil Res Rev 2002; 8(3): 151–161.

20. Havlovicova M, Novotna D, Kocarek E, Novotna K, Bendova S, Petrak B et al. A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17. Am J Med Genet A 2007; 143(1): 76–81.

21. Gillberg C, Coleman M. The genetics of autizm. In: Gillberg C, Coleman M (eds). The biology of the autistic syndromes. 3rd ed. London: Mac Keith Press 2000: 232–261.

22. Rutter M. Incidence of autism spectrum disorders: changes over time and their meaning. Acta Paediatr 2005; 94(1): 2–15.

23. Fombonne E, Zakarian R, Bennett A, Meng L, McLean-Heywood D. Pervasive developmental disorders in Montreal, Quebec, Canada: prevalence and links with immunizations. Pediatrics 2006; 118(1): e139–e150.

24. Woo EJ, Ball R, Landa R, Zimmerman AW, Braun MM. VAERS Working Group. Developmental regression and autism reported to the Vaccine Averse Ebeny Reporting System. Autism 2007; 11(4): ­301–310.

25. Wakefield AJ, Murch SH, Anthony A, Linnell J, Casson DM, Malik M et al. Ileal-lymphoid-nodular hyperplasia, non-specific colitis, and pervasive developmental disorder in children. Lancet 1998; 351(9103): 637–641.

26. O’Hare A. Autism spectrum disorder: diagnosis and management. Arch Dis Child Educ Pract Ed 2009; 94(6): 161–168.

27. Landa RJ. Diagnosis of autism spectrum disorders in the first 3 years of life. Nat Clin Pract Neurol 2008; 4(3): 138–147.

28. Maestro S, Muratori F, Cesari A, Cavallaro MC, Paziente A, Pecini C et al. Course of autism signs in the first year of life. Psychopathology 2005; 38(1): 26–31.

29. Zwaigenbaum L, Bryson S, Rogers T, Roberts W, Brian J, Szatmari P. Behavioral manifestations of autism in the first year of life. Int J Dev Neurosci 2005; 23(2–3): 143–152.

30. Trillingsgaard A, Ulsted Sørensen EU, Nemec G, Jørgensen M. What distinguish autism spectrum disorders from other developmental disorders before the age of four years? Eur Child Adolesc Psychiatry 2005; 14(2): 65–72.

31. Baron-Cohen S, Knickmeyer RC, Belmonte MK. Sex differences in the brain: implications for explaining autism. Science 2005; 310(5749): 819–823.

32. Schaefer GB, Mendelsohn NJ. Genetics evaluation for the etiologic diagnosis of autism spectrum disorders. Genet Med 2008; 10(1): 4–12.

33. Rapin I. The autistic-spectrum disorders. N Engl J Med 2002; 347(5): 302–303.

34. Záhoráková D, Martásek P. Rettův syndrom. Cesk Slov Neurol N 2009; 72/105(6): 525–533.

35. Baird G, Charman T, Baron-Cohen S, Cox A, Swettenham J, Wheelwright S et al. A screening instrument for autism at 18 months of age: a 6-year follow-up study. J Am Acad Child Adolesc Psychiatry 2000; 39(6): 694–702.

36. Landa R, Garrett-Mayer E. Development in infants with autism spectrum disorders: a prospective study. J Child Psychol Psychiatry 2006; 47(6): 629–638.

37. Turner LM, Stone WL, Pozdol SL, Coonrod EE. Follow-up of children with autism spectrum disorders from age 2 to age 9. Autism 2006; 10(3): 243–265.

38. Johnson CP. Recognition of autism before age of 2 years. Pediatr Rev 2008; 29(3): 86–96.

39. Jones LA, Campbell JM. Clinical characteristics associated with language regression for children with autism spectrum disorders. J Autism Dev Disord 2010; 40(1): 54–62.

40. Rapin I, Allen DA. Syndromes in developmental dysphasia and adult aphasia. Res Publ Assoc Res Nerv Ment Dis 1987; 66: 57–75.

41. Charman T. Autism and the pervasive developmental disorders. Curr Opin Neurol 1999; 12(2): ­155–159.

42. Abrahamson SJ, Enticott PG, Tonge BJ. High-functioning pervasive developmental disorders in adults. Med J Aust 2010; 192(1): 44–48.

43. Anagnostou E, Schevell M. Outcomes of children with autism. In: Tuchman R, Rapin I (eds). Autism: a neurological disorder of early brain development. London: Mac Keith Press 2006: 308–321.

44. Attwood T. Asperger’s syndrome: a guide for pa­rents and professionals. London: Jessica Kingsley Publishers 1998.

45. Howlin P, Goode S, Hutton J, Rutter M. Adult outcome for children with autism. J Child Psychol Psychiatry 2004; 45(2): 212–229.

46. Howlin P. Outcomes in autism spectrum disorders. In: Volkmar FR, Paul R, Klin A et al (eds). Handbook of autism and pervasive developmental disorders. 3rd ed. New Jersey: John Wiley & Sons Ltd. 2005: 201–222.

47. Frith CD, Frith U. Autism and Asperger Syndome. Cambridge: Cambridge University Press 1991.

48. Baron-Cohen S. The autistic child’s theory of mind: a case of specific developmental delay. J Child Psychol Psychiatry 1989; 30(2): 285–297.

49. Ozonoff, S. Executive funtions in autism. In: ­Schopler E, Mesibov GB (eds). Learning and cognition in autism. New York: Plenum Press 1991.

50. Hobson RP. What is autism? Psychiatr Clin North Am 1991; 14(1): 1–17.

51. Baron-Cohen S, Wheelwright S, Cox A, Baird G, Charman T, Swettenham J et al. Early identification of autism by the Checklist for Autism in Toddlers (CHAT). J R Soc Med 2000; 93(10): 521–525.

52. Schopler E, Reichler RJ, DeVellis RF, Daly K. Toward objective classification of childhood autism: Childhood Autism Rating Scale (CARS). J Autism Dev Disord 1980; 10(1): 91–103.

53. Gillberg C, Nordin V, Ehlers S. Early detection of autism. Diagnostic instruments for clinicians. Eur Child Adolesc Psychiatry 1996; 5(2): 67–74.

54. Szatmari P, Jones MB, Zwaigenbaum L, ­MacLean JE. Genetics of autism: overview and new directions. J Autism Dev Disord 1998; 28(5): ­351–368.

55. Freitag CM. The genetics of autistic disorders. Z Kinder Jugendpsychiatr Psychother 2008; 36(1): 7–14.

56. Muhle R, Trentacoste SV, Rapin I. The genetics of autism. Pediatrics 2004; 113(5): e472–e486.

57. Daniels JL. Autism and the environment. Environ Health Perspect 2006; 114(7): A396.

58. Santangelo SL, Tsatsanis K. What is known about autism: genes, brain, and behavior. Am J Pharmacogenomics 2005; 5(2): 71–92.

59. Abrahams BS, Geschwind DH. Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet 2008; 9(5): 341–355.

60. Mehler MF. Epigenetics and the nervous system. Ann Neurol 2008; 64(6): 602–617.

61. Altevogt BM, Hanson SL, Leshner AI. Autism and the environment: challenges and opportunities for research. Pediatrics 2008; 121(6): 1225–1229.

62. Deth R, Muratore C, Benzecry J, ­Power-Charnitsky VA, Waly M. How environmental and genetic factors combine to cause autism: a ­redox­/­methylation hypothesis. Neurotoxicology 2008; 29(1): 190–201.

63. Anywanwu EC. Developmental and environmental factors in autism. Int J Disabil Hum Dev 2008; 7(1): 9–12.

64. Landrigan PJ. What causes autism? Exploring the environmental contribution. Curr Opin Pediatr 2010; 22(2): 219–225.

65. Momoi T, Fujita E, Senoo H, Momoi M. Genetic factors and epigenetic factors for autism: andoplasmic reticulum stress and impaired synaptic function. Cell Biol Int 2010; 34(1): 13–19.

66. Zoghbi HY. Postnatal neurodevelopmental disorders: meeting at the synapse? Science 2003; 302(5646): 826–830.

67. Du T, Zamore PD. MicroPrimer: the biogenesis and function of microRNA. Development 2005; 132(21): 4645–4652.

68. Vasudevan N, Kow LM, Pfaff D. Integration of steroid hormone initiated membrane action to genomic function in the brain. Steroids 2005; 70(5–7): 388–396.

69. Hirtz GD, Wagner A, Filipek AP. Autistic spectrum disorders. In: Swaiman KF, Aswal S, Ferriero D (eds). Pediatric nurology: principles and practice. 4rd ed. St. Louis: Mosby Inc. 2006: 905–937.

70. O’Brien G, Pearson J. Defining behavioral phenotypes: exploring phenotype/genotype interrelationships. In: Riva D, Bellugi U, Denckla MB (eds). Neurodevelopmental disorders: cognitive/behavioral phenotypes. Montrouge: John Libbey Eurotext 2005: 9–18.

71. Hughes JR. Update on autism: a review of 1300 reports published in 2008. Epilepsy Behav 2009; 16(4): 569–589.

72. Szatmari P, Paterson AD, Zwaigenbaum L, ­Roberts W, Brian J, Liu XQ et al. Autism Genome Project Consortium. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 2007; 39(3): 319–328.

73. Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA et al. Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet 2008; 17(4): ­628–638.

74. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R et al. Association between microdeletion and microduplication at 16p11 and autism. N Engl J Med 2008; 358(7): 667–675.

75. Ritvo E, Brothers AM, Freeman BJ, Pingree C. Eleven possibly autistic parents. J Autism Dev Disord 1988; 18(1): 139–143.

76. Reichenberg A, Gross R, Weiser M, Bresnahan M, Silverman J, Harlap S et al. Advancing paternal age and autism. Arch Gen Psychiatry 2006; 63(9): 1026–1032.

77. Kolevzon A, Gross R, Reichenberg A. Prenatal and perinatal risk factors for autism: a review and integration of findings. Arch Pediatr Adolesc Med 2007; 161(4): 326–333.

78. Mehler MF, Mattick JS. Non-coding RNAs in the nervous system. J Physiol 2006; 575(2): 333–341.

79. Bolton PF, Murphy M, Macdonald H, Whitlock B, Pickles A, Rutter M. Obstetric complications in autism: consequences or causes of the condition? J Am Acad Child Adolesc Psychiatry 1997; 36(2): 272–281.

80. Anderson GM, Hoshino Y. Neurochemical studies of autizm. In: Cohen DJ, Volkmar FR (eds). Handbook of autizm and pervasive developmental disorders. 2nd ed. New York: John Wiley 1997: 625–643.

81. Eskenazi B, Rosas LG, Marks AR, Bradman A, ­Harley K, Holland N et al. Pesticide toxicity and the developing brain. Basic Clin Pharmacol Toxicol 2008; 102(2): 228–236.

82. Streissguth AP, Barr HM, Sampson PD. Moderate prenatal alcohol exposure: effects on child IQ and learning problems at age 7½ years. Alcohol Clin Exp Res 1990; 14(5): 662–669.

83. Grandjean P, Landrigan PJ. Developmental neurotoxicity of industrial chemicals. Lancet 2006; 368(9553): 2167–2178.

84. Strömland K, Nordin V, Miller M, Akerström B, Gillberg C. Autism in thalidomide embryopathy: a population study. Dev Med Child Neurol 1994; 36(4): 351–356.

85. Grether JK, Li SX, Yoshida CK, Croen LA. Antenatal ultrasound and risk of autism spectrum disorders. J Autism Dev Disord 2010; 40(2): 238–245.

86. McBride PA, Anderson GM, Hertzig ME, ­Sweeney JA, Kream J, Cohen D et al. Serotonergic responsivity in male young adults with autistic disorder. Results of a pilot study. Arch Gen Psychiatry 1989; 46(3): 213–221.

87. Cook EH Jr, Courchesne R, Lord C, Cox NJ, Yan S, Lincoln A et al. Evidence of linkage between the serotonin transporter and autistic disorder. Mol Psychiatry 1997; 2(3): 247–250.

88. Modahl C, Green L, Fein D, Morris M, Waterhouse L, Feinstein C et al. Plasma oxytocin levels in autistic children. Biol Psychitry 1998; 43(4): 270–277.

89. Marazziti D, Dell’Osso MC. The role of oxytocin in neuropsychiatric disorders. Curr Med Chem 2008; 15(7): 698–704.

90. Amaral DG, Schumann CM, Nordahl CW. Neuroanatomy of autism. Trends Neurosci 2008; 31(3): 137–145.

91. Hrdlicka M. Structural neuroimaging in autism. Neuro Endocrinol Lett 2008; 29(3): 281–286.

92. Casanova MF, Buxhoeveden DP, Switala AE, Roy E. Minicolumnar pathology in autism. Neurology 2002; 58(3): 428–432.

93. Casanova MF, van Kooten IA, Switala AE, van Engeland H, Heinsen H, Steinbusch HW et al. Minicolumnar abnormalities in autism. Acta Neuropathol 2006; 112(3): 287–303.

94. Courchesne E, Saitoh O, Townsend JP, ­Yeung-Courchesne R, Press GA, Lincoln AJ et al. Cere­bellar hypoplasia and hyperplasia in infantile autism. Lancet 1994; 343(8888): 63–64.

95. Verhoeven JS, De Cock P, Lagae L, Sunaert S. Neuroimaging of autizm. Neuroradiology 2010; 52(1): 3–14.

96. Blaylock RL, Strunecka A. Immune-glutamatergic dysfunction as a central mechanism of the autism spectrum disorders. Curr Med Chem 2009; 16(1): 157–170.

97. Wong V. Epilepsy in childreen with autistic spectrum disorder. J Child Neurol 1993; 8(4): 316–322.

98. Tuchman R, Rapin I. Epilepsy in autism. Lancet Neurol 2002; 1(6): 352–358.

99. Kelley KR, Moshe SL. Electrophysiology and epilepsy in autism. In: Tuchman R, Rapin I (eds). Autism: a neurological disorder of early brain development. London: Mac Keith Press 2006: 160–173.

100. Canitano R. Epilepsy in autism spectrum disorders. Eur Child Adolesc Psychiatry 2007; 16(1): 61–66.

101. Hara H. Autism and epilepsy: a retrospective ­follow-up study. Brain Dev 2007; 29(8): 486–490.

102. Ošlejšková H, Dušek L, Makovská Z, Dujíčková E, Autrata R, Šlapák I. Výskyt epileptických záchvatů ­a/­nebo epileptiformní EEG abnormity u dětí s dětským a atypickým autizmem. Cesk Slov Neurol N 2008; 71/104(4): 435–444.

103. Volkmar FR, Nelson DS. Seizure disorders in autism. J Am Acad Child Adolesc Psychiatry 1990; 29(1): 127–129.

104. Matson JL, Dempsey T. Autism spectrum disorders: pharmacotherapy for challenging behaviors. J Dev Phys Disabil 2008; 20(2): 175–191.

105. Peake D, Notghi LM, Philip S. Management of epilepsy in children with autism. Curr Pediatr 2006; 16(7): 489–494.

106. Kagan-Kushnir T, Roberts SW, Snead OC 3rd. Screening electroencephalograms in autism spectrum disorders: evidence-based guideline. J Child Neurol 2005; 20(3): 197–206.

107. Malow BA, McGrew SG, Harvey M, ­Henderson LM, Stone WL. Impact of treating sleep apnea in a child with autism spectrum disorder. ­Pediatr Neurol 2006; 34(4): 325–328.

108. Canitano R, Vivanti G. Tics and Tourette syndrome in autism spectrum disorders. Autism 2007; 11(1): 19–28.

109. Malone RP, Waheed A. The role of antipsycho­tics in the management of behavioural symptoms in children and adolescents with autism. Drugs 2009; 69(5): 535–548.

110. Leskovec TJ, Rowles BM, Findling RL. Pharmacological treatment options for autism spectrum disorders in children and adolescents. Harv Rev Psychiatry 2008; 16(2): 97–112.

111. Rogers SJ, Vismara LA. Evidence-based comprehensive treatments for early autism. J Clin Child Adolesc Psychol 2008; 37(1): 8–38.

112. Scahill L, Martin A. Psychopharmacology. In: Volkmar FR, Paul R, Klin A et al (eds). Handbook of autism and pervasive developmental disorders. 3rd ed. New York: John Wiley 2005: ­1102–1121.

113. Anywanwu EC. Autistic disorders: is the use of pharmacotherapy necessary in every case? Int J Disabil Hum Dev 2008; 7(1): 13–17.

114. Dawson G, Zanolli K. Early intervention and brain plasticity in autizm. In: Novartis Foundation. Autism: neural basis and treatment possibilities. Ontario: John Willey & Sons Ltd 2003: 266–288.

115. Ozonoff S, Miller JN. Teaching theory of mind: a new approach to social skills training for indivi­duals with autism. J Autism Dev Disord 1995; 25(4): ­415–433.

116. Howlin P. Can early interventions alter course of autism? In: Novartis Foundation. Autism: neural basis and treatment possibilities. Ontario: John ­Willey & Sons Ltd. 2003: 250–265.

117. Hrdlička M. Dětský autizmus – fakta a mýty. Tempus Medicorum 2009; 18: 19–20.

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