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.
Labels
Paediatric neurology Neurosurgery NeurologyArticle was published in
Czech and Slovak Neurology and Neurosurgery
2010 Issue 6
Most read in this issue
- Spontaneous Regression of Sequestrated Lumbar Disc Herniation – Three Case Reports
- Assessment of State of Health and Capacity for Work in Post-Stroke Patients – Case Reports
- The Bristol Activities of Daily Living Scale BADLS-CZ for the Evaluation of Patients with Dementia
- Neurotransmitter Disorders in Childhood and Differential Diagnosis