Abstract
An overview of autism is provided. History, prevalence and causes are described. The autism spectrum disorders (ASD) are developmental disorders defined by significantly abnormal social interaction, impaired communication and language abilities and a narrow pattern of interests. According to the Diagnostic and Statistical Manual of Mental Disorders (IV edition-text revision), autistic disorder (AD) is the most severe form of ASD. Asperger syndrome, Rett syndrome, childhood disintegrative disorder and pervasive developmental disorder not otherwise specified are considered milder forms of ASD. The American Psychiatric Association has recently released the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-V). The diagnostic criteria for ASD have been modified based on the research literature and clinical experience in the 19 years since the DSM-IV was published in 1994. In particular, the diagnosis will be called Autism Spectrum Disorder and there will no longer be sub-diagnoses.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Abrahams BS, Geschwind DH (2008) Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet 9(5):341–355
Abrahams BS, Geschwind DH (2010) Connecting genes to brain in the autism spectrum disorders. Arch Neurol 67(4):395–399
Baio J (2012) Prevalence of autism spectrum disorders. Autism and developmental disabilities monitoring network, 14 sites, United States, 2008. MMWR Surveill Summ 61:1–19
Baron-Cohen S, Ring HA, Bullmore ET, Wheelwright S, Ashwin C, Williams SC (2000) The amygdala theory of autism. Neurosci Biobehav Rev 24(3):355–364
Bennetto L, Pennington BF, Rogers SJ (1996) Intact and impaired memory functions in autism. Child Dev 67(4):1816–1835
Bernard S, Enayati A, Roger H, Binstock T, Redwood L (2002) The role of mercury in the pathogenesis of autism. Mol Psychiatry 2(Suppl 7):S42–43
Bettelheim B (1967) The empty fortress. Macmillan Company, New York (Italian: La Fortezza Vuota, Feltrinelli, Milano 1976)
Borgatti R, Piccinelli P, Passoni D, Dalprã L, Miozzo M, Micheli R, Gagliardi C, Balottin U (2001) Relationship between clinical and genetic features in “inverted duplicated chromosome 15” patients. Pediatr Neurol 24(2):111–116
Brasic JR, Holland JA (2006) Reliable classification of case-control studies of autistic disorder and obstetric complications. J Dev Phys Disabil 18:355–381
Brasic JR, Holland JA (2007) A qualitative and quantitative review of obstetric complications and autistic disorder. J Dev Phys Disabil 19:337–364
Brasic JR, Holland JA, Alexander M (2003) The increased likelihood of obstetric complications in autistic disorder. South Med J 96(Suppl 10):S34
Buie T, Campbell DB, Fuchs GJ III, Furuta GT, Levy J et al (2010) Evaluation, diagnosis, and treatment of gastrointestinal disorders: a consensus report. Pediatrics 125:S1–S18
Campbell DB, Sutcliffe JS, Ebert PJ, Militerni R, Bravaccio C, Trillo S, Elia M, Schneider C, Melmed R, Sacco R, Persico AM, Levitt P (2006) A genetic variant that disrupts MET transcription is associated with autism. Proc Natl Acad Sci U S A 103(45):16834–16839
Campbell DB, D’Oronzio R, Garbett K, Ebert PJ, Mirnics K, Levitt P, Persico AM (2007) Disruption of cerebral cortex MET signaling in autism spectrum disorder. Ann Neurol 62(3):243–250
Cattaneo L, Fabbri-Destro M, Boria S, Pieraccini C, Monti A, Cossu G, Rizzolatti G (2007) Impairment of actions chains in autism and its possible role in intention understanding. Proc Natl Acad Sci U S A 104(45):17825–17830
Constantino JN, Zhang Y, Frazier T, Abbacchi AM, Law P (2010) Sibling recurrence and the genetic epidemiology of autism. Am J Psychiatry 167(11):1349–1356
Coury DL, Ashwood P, Fasano A et al (2012) Gastrointestinal conditions in children with autism spectrum disorder: developing a research agenda. Pediatrics 130:S160–S168
D’Amelio M, Ricci I, Sacco R, Liu X, D’Agruma L, Muscarella LA, Guarnieri V, Militerni R, Bravaccio C, Elia M, Schneider C, Melmed R, Trillo S, Pascucci T, Puglisi-Allegra S, Reichelt KL, Macciardi F, Holden JJ, Persico AM (2005) Paraoxonase gene variants are associated with autism in North America, but not in Italy: possible regional specificity in gene-environment interactions. Mol Psychiatry 10(11):1006–1016
De Magistris L, Familiari V, Pascotto A, Sapone A, Frolli A, Iardino P, Carteni M., De Rosa M, Francavilla R, Riegler G, Militerni R, Bravaccio C (2010) Alterations of the intestinal barrier in autistic patients and in their first degree relatives. J Pediatr Gastroenterol Nutr 51:418–424
De Magistris L, Picardi A, Siniscalco D, Riccio MP, Sapone A, Cariello R, Abbadessa S, Medici N, Lammers KM, Schiraldi C, Iardino P, Marotta R, Tolone C, Fasano A, Pascotto A, Bravaccio C (2013) Antibodies against food antigens in patients with autistic spectrum disorders (ASDs). Biomed Res Int 2013:729349
Engel SM, Daniels JL (2011) On the complex relationship between genes and environment in the etiology of autism. Epidemiology 22:486–488
Frith U, Happé F (1994) Language and communication in autistic disorders. Philos Trans R Soc Lond B Biol Sci 346(1315):97–104
Garbett KA, Hsiao EY, Kalman S, Patterson PH, Mirnics K (2012) Effects of maternal immune activation on gene expression patterns in the fetal brain. Transl Psychiatry 2:e98
Gentile I, Zappulo E, Militerni R, Pascotto A, Borgia G, Bravaccio C (2013) Etiopathogenesis of autism spectrum disorders: fitting the pieces of the puzzle together. Med Hypotheses 81(1):26–35
Gillberg G, Coleman M (1992) The biology of the autistic syndromes. MacKeith Press, London
Gillberg C et al (1990) Autism under age 3 years: a clinical study of 28 cases referred for autistic symptoms in infancy. J Child Psychol Psychiatry 31:921–934
Gillberg C, Gillberg IC, Steffenburg S (1992) Siblings and parents of children with autism: a controlled population-based study. Dev Med Child Neurol 34:389–398
Glasson EJ, Bower C, Petterson B, de Klerk N, Chaney G, Hallmayer JF (2004) Perinatal factors and the development of autism: a population study. Arch Gen Psychiatry 61(6):618–627
Gupta S, Aggarwal S, Rashanravan B, Lee T (1998) Th1- and Th2-like cytokines in CD4+ and CD8+ T cells in autism. J Neuroimmunol 85(1):106–109
Hallmayer J, Cleveland S, Torres A, Phillips J, Cohen B, Torigoe T et al (2011) Genetic heritability and shared environmental factors among twin pairs with autism. Arch Gen Psychiatry 68(11):1095–1102
Hobson RP (1993) Autism and the development of mind. Erlbaum, Hove
Hobson RP, Lee A (1989) Emotion-related and abstract concepts in autistic people: evidence from the British Picture Vocabulary Scale. J Autism Dev Disord 19(4):601–623
Hultman CM, Sandin S, Levine SZ, Lichtenstein P, Reichenberg A (2011) Advancing paternal age and risk of autism: new evidence from a population-based study and a meta-analysis of epidemiological studies. Mol Psychiatry 16(12):1203–1212
Jyonouchi H, Sun S, Le H (2001) Proinflammatory and regulatory cytokine production associated with innate and adaptive immune responses in children with autism spectrum disorders and developmental regression. J Neuroimmunol 120(1–2):170–179
Kilic SS, Aydin S, Kilic N, Erman F, Aydin S, Celik I (2005) Serum arylesterase and paraoxonase activity in patients with chronic hepatitis. World J Gastroenterol 11(46):7351–7354
Larsson HJ, Eaton WW, Madsen KM, Vestergaard M, Olesen AV, Agerbo E et al (2005) Risk factors for autism: perinatal factors, parental psychiatric history, and socioeconomic status. Am J Epidemiol 161(10):916–925
Lawler CP, Croen LA, Grether JK, Van de Water J (2004) Identifying environmental contributions to autism: provocative clues and false leads. Ment Retard Dev Disabil Res Rev 10(4):292–302
Lenten BJ, Wagner AC, Anantharamaiah GM, Garber DW, Fishbein MC, Adhikary L, Nayak DP, Hama S, Navab M, Fogelman AM (2002) Influenza infection promotes macrophage traffic into arteries of mice that is prevented by D-4F, an apolipoprotein A-I mimetic peptide. Circulation 106(9):1127–1132
Muhle R, Trentacoste SV, Rapin I (2004) The genetics of autism. Pediatrics 113(5):e472–e486
Narita N, Kato M, Tazoe M, Miyazaki K, Narita M, Okado N (2002) Increased monoamine concentration in the brain and blood of fetal thalidomide- and valproic acid-exposed rat: putative animal models for autism. Pediatr Res 52(4):576–579
Ozonoff S, Young GS, Carter A, Messinger D, Yirmiya N, Zwaigenbaum L et al (2011) Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study. Pediatrics 128(3):e488–e495
Parra S, Alonso-Villaverde C, Coll B, Ferré N, Marsillach J, Aragonès G, Mackness M, Mackness B, Masana L, Joven J, Camps J (2007) Serum paraoxonase-1 activity and concentration are influenced by human immunodeficiency virus infection. Atherosclerosis 194(1):175–181
Paucheri P, Pfanner P (1999) Il punto su psicofarmacologia nei disturbi psichiatrici dell’infanzia e dell’adolescenza. Scientific Press s.r.l
Sacco R, Militerni R, Frolli A, Bravaccio C, Gritti A, Elia M, Curatolo P, Manzi B, Trillo S, Lenti C, Saccani M, Schneider C, Melmed R, Reichelt KL, Pascucci T, Puglisi-Allegra S, Persico AM (2007) Clinical, morphological, and biochemical correlates of head circumference in autism. Biol Psychiatry 62(9):1038–1047
Sandin S, Hultman CM, Kolevzon A, Gross R, MacCabe JH, Reichenberg A (2012) Advancing maternal age is associated with increasing risk for autism: a review and meta-analysis. J Am Acad Child Adolesc Psychiatry 51(5):477–486
Shi L, Fatemi SH, Sidwell RW, Patterson PH (2003) Maternal influenza infection causes marked behavioral and pharmacological changes in the offspring. J Neurosci 23:297–302
Stagno S, Whitley RJ (1985) Herpesvirus infections of pregnancy. Part I: Cytomegalovirus and Epstein-Barr virus infections. N Engl J Med 313:1270–1274
Taft LT, Cohen HJ (1971) Hypsarrhythmia and infantile autism: a clinical report. J Autism Child Schizophr 1(3):327–336
Trevarthen C, Aitken KJ (2001) Infant intersubjectivity: research, theory, and clinical applications. J Child Psychol Psychiatry 42:3–48
Wakefield AJ, Murch SH, Anthony A, Linnell J, Casson DM, Malik M, Berelowitz M, Dhillon AP, Thomson MA, Harvey P, Valentine A, Davies SE, Walker-Smith JA (1998) Ileal-lymphoid-nodular hyperplasia, non-specific colitis, and pervasive developmental disorder in children. Lancet 351(9103):637–641
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2015 Springer International Publishing Switzerland
About this chapter
Cite this chapter
Maresca, R., de Magistris, L. (2015). Autism: What Is It?. In: Robinson-Agramonte, M. (eds) Translational Approaches to Autism Spectrum Disorder. Springer, Cham. https://doi.org/10.1007/978-3-319-16321-5_1
Download citation
DOI: https://doi.org/10.1007/978-3-319-16321-5_1
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-16320-8
Online ISBN: 978-3-319-16321-5
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)