Etiology

doi:10.1017/CBO9780511978616.007

Chapter 6 - Etiology

essential autism

from Section 1 - What We Know about Autism and How We Know It

Published online by Cambridge University Press: 05 November 2012

Mark E. Reber

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Mark Reber

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Mark Reber: Affiliation:
Drexel University, Philadelphia

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Summary

The previous chapter reviewed the features of ASDs as they occur in several specific genetic disorders with well described syndromic presentations. By following molecular pathways from genes to neurodevelopment, we considered several mechanisms that could explain the emergence of autistic symptoms. These included the genetic defects themselves, abnormalities in the formation of synapses and interneuronal connections, alteration in the balance of neuronal excitation and inhibition, and abnormalities in activity-driven synaptic plasticity. Underlying some of these aberrant neuronal processes was presumed disruption of epigenetically regulated transcription of particular genes.

The present chapter will continue to explore some of the possible etiologic mechanisms for ASDs, looking at the fundamental role of genetic variations, at some possible ways in which genes and the environment might interact, and at abnormalities in other physiologic processes that might mediate the link between genetic vulnerability and the emergence of autism.

The discussion will focus on primary or essential autism – not associated with particular genetic and malformation syndromes. This is also a heterogeneous category: no single mechanism is likely to explain all ASDs.

Type: Chapter
Information: The Autism Spectrum
Scientific Foundations and Treatment
, pp. 145 - 178

DOI: https://doi.org/10.1017/CBO9780511978616.007 [Opens in a new window]

Publisher: Cambridge University Press

Print publication year: 2012

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References

Abrahams, B. S.Geschwind, D. H. 2008 Advances in autism genetics: on the threshold of a new neurobiologyNat Rev Genet 9 341CrossRef Google Scholar PubMed

Alarcon, M.Abrahams, B. S.Stone, J. L. 2008 Linkage, association, and gene-expression analyses identify 2 as an autism-susceptibility geneAm J Hum Genet 82 150CrossRef Google Scholar PubMed

Álvarez-Iglesias, V.Mosquera-Miguel, A.Cuscó, I. 2011 Reassessing the role of mitochondrial DNA mutations in autism spectrum disorderBMC Med Genet 12 e1CrossRef Google Scholar PubMed

Amiet, C.Gourfinkel-An, I.Bouzamondo, A. 2008 Epilepsy in autism is associated with intellectual disability and gender: evidence from a meta-analysisBiol Psychiatry 64 577CrossRef Google Scholar PubMed

Andari, E.Duhamel, J. R.Zalla, T. 2010 Promoting social behavior with oxytocin in high-functioning autism spectrum disordersProc Natl Acad Sci USA 107 4389CrossRef Google Scholar PubMed

Arndt, T. L.Stodgell, C. J.Rodier, P. M. 2005 The teratology of autismInt J Dev Neurosci 23 189CrossRef Google Scholar PubMed

Ashwood, P.Krakowiak, P.Hertz-Picciotto, I. 2011 Altered T cell responses in children with autismBrain Behav Immun 5 840CrossRef Google Scholar

Ashwood, P.Krakowiak, P.Hertz-Picciotto, I. 2011 Elevated plasma cytokines in autism spectrum disorders provide evidence of immune dysfunction and are associated with impaired behavioral outcomeBrain Behav Immun 25 40CrossRef Google Scholar PubMed

Ashwood, P.Wills, S.Van de Water, J. 2006 The immune response in autism: a new frontier for autism researchJ Leukoc Biol 80 1CrossRef Google Scholar PubMed

Atladóttir, H. O.Pedersen, M. G.Thorsen, P. 2009 Association of family history of autoimmune diseases and autism spectrum disordersPediatrics 124 687CrossRef Google Scholar PubMed

Auyeung, B.Baron-Cohen, S. 2008 A role for fetal testosterone in human sex differences: implications for understanding autismZimmerman, A. W.Autism: Current Theories and Evidence185Baltimore, MDHumana PressCrossRef Google Scholar

Auyeung, B.Baron-Cohen, S.Ashwin, E. 2009 Fetal testosterone and autistic traitsBr J Psychol 100 1CrossRef Google Scholar PubMed

Auyeung, B.Taylor, K.Hackett, G. 2010 Foetal testosterone and autistic traits in 18 to 24-month-old childrenMol Autism 1 1CrossRef Google Scholar PubMed

Berkel, S.Marshall, C. R.Weiss, B. 2010 Mutations in the 2 synaptic scaffolding gene in autism spectrum disorder and mental retardationNat Genet 42 489CrossRef Google Scholar

Besag, F. M. 2004 Behavioral aspects of pediatric epilepsy syndromesEpilepsy Behav 5 S3CrossRef Google Scholar PubMed

Besag, F. M. 2009 The relationship between epilepsy and autism: a continuing debateActa Paediatr 98 618CrossRef Google Scholar PubMed

Betancur, C.Sakurai, T.Buxbaum, J. D. 2009 The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disordersTrends Neurosci 32 402CrossRef Google Scholar PubMed

Betancur, C. 2011 Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still countingBrain Res 1380 42CrossRef Google Scholar PubMed

Bourgeron, T. 2009 A synaptic trek to autismCurr Opin Neurobiol 9 231CrossRef Google Scholar

Braunschweig, D.Ashwood, P.Krakowiak, P. 2008 Autism: maternally derived antibodies specific for fetal brain proteinsNeurotoxicology 29 226Google Scholar PubMed

Bremer, A.Giacobini, M.Eriksson, M. 2011 Copy number variation characteristics in subpopulations of patients with autism spectrum disordersAm J Med Genet B Neuropsychiatr Genet 156 115CrossRef Google Scholar PubMed

Bromley, R. L.Mawer, G.Clayton-Smith, J. 2008 Autism spectrum disorders following in utero exposure to antiepileptic drugsNeurology 71 1923CrossRef Google Scholar PubMed

Brooks-Kayal, A. 2010 Epilepsy and autism spectrum disorders: are there common developmental mechanisms?Brain Dev 32 731CrossRef Google Scholar PubMed

Bucan, M.Abrahams, B. S.Wang, K. 2009 Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genesPLoS Genet 26Google Scholar

Campbell, D. B.Datta, D.Jones, S. T. 2011 Association of oxytocin receptor () gene variants with multiple phenotype domains of autism spectrum disorderJ Neurodev Disord 3 101CrossRef Google Scholar PubMed

Careaga, M.Van de Water, J.Ashwood, P. 2010 Immune dysfunction in autism: a pathway to treatmentNeurotherapeutics 7 283CrossRef Google Scholar

Chahrour, M.Zoghbi, H. Y. 2007 The story of Rett syndrome: from clinic to neurobiologyNeuron 56 422CrossRef Google Scholar PubMed

Chez, M. G.Chang, M.Krasne, V. 2006 Frequency of epileptiform EEG abnormalities in a sequential screening of autistic patients with no known clinical epilepsy from 1996 to 2005Epilepsy Behav 8 267CrossRef Google Scholar

Chez, M. G.Dowling, T.Patel, P. B. 2007 Elevation of tumor necrosis factor-alpha in cerebrospinal fluid of autistic childrenPediatr Neurol 36 361CrossRef Google Scholar PubMed

Christian, S. L.Brune, C. W.Sudi, J. 2008 Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorderBiol Psychiatry 63 1111CrossRef Google Scholar PubMed

Constantino, J. N.Zhang, Y.Frazier, T. 2010 Sibling recurrence and the genetic epidemiology of autismAm J Psychiatry 167 1349CrossRef Google Scholar PubMed

Correia, C.Coutinho, A. M.Diogo, L. 2006 Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier 25A12 geneJ Autism Dev Disord 36 1137CrossRef Google Scholar PubMed

Croen, L. A.Braunschweig, D.Haapanen, L. 2008 Maternal mid-pregnancy autoantibodies to fetal brain protein: the early markers for autism studyBiol Psychiatry 64 583CrossRef Google Scholar PubMed

Croen, L. A.Grether, J. K.Yoshida, C. K. 2005 Maternal autoimmune diseases, asthma and allergies, and childhood autism spectrum disorders: a case-control studyArch Pediatr Adolesc Med 159 151CrossRef Google Scholar PubMed

Deonna, T.Roulet, E. 2006 Autistic spectrum disorder: evaluating a possible contributing or causal role of epilepsyEpilepsia 47 79CrossRef Google Scholar PubMed

Deonna, T.Roulet-Perez, E. 2010 Early-onset acquired epileptic aphasia (Landau–Kleffner syndrome, LKS) and regressive autistic disorders with epileptic EEG abnormalities: the continuing debateBrain Dev 32 746CrossRef Google Scholar PubMed

Deth, R.Muratore, C.Benzecry, J. 2008 How environmental and genetic factors combine to cause autism: a redox/methylation hypothesisNeurotoxicology 29 190CrossRef Google Scholar PubMed

Devlin, B.Cook, E. H.Coon, H. 2005 Autism and the serotonin transporter: the long and short of itMol Psychiatry 10 1110CrossRef Google Scholar

El-Fishawy, P.State, M. W. 2010 The genetics of autism: key issues, recent findings, and clinical implicationsPsychiatr Clin North Am 33 83CrossRef Google Scholar PubMed

Enstrom, A. M.Lit, L.Onore, C. E. 2009 Altered gene expression and function of peripheral blood natural killer cells in children with autismBrain Behav Immun 23 124CrossRef Google Scholar PubMed

Eskenazi, B.Marks, A. R.Bradman, A. 2007 Organophosphate pesticide exposure and neurodevelopment in young Mexican-American childrenEnviron Health Perspect 115 792CrossRef Google Scholar PubMed

Filipek, P. A.Juranek, J.Nguyen, M. T. 2004 Relative carnitine deficiency in autismJ Autism Dev Disord 34 615CrossRef Google Scholar PubMed

Filipek, P. A.Juranek, J.Smith, M. 2003 Mitochondrial dysfunction in autistic patients with 15q inverted duplicationAnn Neurol 53 801CrossRef Google Scholar PubMed

Fillano, J. J.Goldenthal, M. J.Rhodes, C. H. 2002 Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism, and developmental delay: HEADD syndromeJ Child Neurol 17 435CrossRef Google Scholar PubMed

Folstein, S.Rutter, M. 1977 Infantile autism: a genetic study of 21 twin pairsJ Child Psychol Psychiatry 18 297CrossRef Google Scholar PubMed

Freitag, C. M.Staal, W.Klauck, S. M. 2010 Genetics of autistic disorders: review and clinical implicationsEur Child Adolesc Psychiatry 19 169CrossRef Google Scholar PubMed

Gale, S.Ozonoff, S.Lainhart, J. 2003 Brief report: pitocin induction in autistic and nonautistic individualsJ Autism Dev Disord 33 205CrossRef Google Scholar PubMed

Giulivi, C.Zhang, Y. F.Omanska-Klusek, A. 2010 Mitochondrial dysfunction in autismJAMA 304 2389CrossRef Google Scholar PubMed

Glessner, J. T.Wang, K.Cai, G. 2009 Autism genome-wide copy number variation reveals ubiquitin and neuronal genesNature 459 569CrossRef Google Scholar PubMed

Goines, P.Van de Water, J. 2010 The immune system’s role in the biology of autismCurr Opin Neurol 23 111CrossRef Google Scholar PubMed

Grafodatskaya, D.Chung, B.Szatmari, P. 2010 Autism spectrum disorders and epigeneticsJ Am Acad Child Adolesc Psychiatry 49 794CrossRef Google Scholar PubMed

Gregory, S. G.Connelly, J. J.Towers, A. J. 2009 Genomic and epigenetic evidence for oxytocin receptor deficiency in autismBMC Med 7 62CrossRef Google Scholar PubMed

Grether, J. K.Croen, L. A.Anderson, M. C. 2010 Neonatally measured immunoglobulins and risk of autismAutism Res 3 323CrossRef Google Scholar PubMed

Guastella, A. J.Einfeld, S. L.Gray, K. M. 2010 Intranasal oxytocin improves emotion recognition for youth with autism spectrum disordersBiol Psychiatry 67 692CrossRef Google Scholar PubMed

Haas, R. H. 2010 Autism and mitochondrial diseaseDev Disabil Res Rev 16 144CrossRef Google Scholar PubMed

Hallmayer, J.Cleveland, S.Torres, A. 2011 Genetic heritability and shared environmental factors among twin pairs with autismArch Gen Psychiatry 11 1095CrossRef Google Scholar

Happé, F.Ronald, A.Plomin, R. 2006 Time to give up on a single explanation for autismNat Neurosci 9 1218CrossRef Google Scholar PubMed

Hara, H. 2007 Autism and epilepsy: a retrospective follow-up studyBrain Dev 29 486CrossRef Google Scholar PubMed

Harony, H.Wagner, S. 2010 The contribution of oxytocin and vasopressin to mammalian social behavior: potential role in autism spectrum disorderNeurosignals 2 82CrossRef Google Scholar

Herbert, M. R. 2010 Contributions of the environment and environmentally vulnerable physiology to autism spectrum disordersCurr Opin Neurol 23 103CrossRef Google Scholar PubMed

Herbert, M. R.Russo, J. P.Yang, S. 2006 Autism and environmental genomicsNeurotoxicology 27 671CrossRef Google Scholar PubMed

Heuer, L.Ashwood, P.Schauer, J. 2008 Reduced levels of immunoglobulin in children with autism correlates with behavioral symptomsAutism Res 1 275CrossRef Google Scholar PubMed

Heuer, L.Ashwood, P.Van de Water, J. 2008 The immune system in autism: is there a connection?Zimmerman, A. W.Autism: Current Theories and Evidence271Baltimore, MDHumana PressCrossRef Google Scholar

Hollander, E.Bartz, J.Chaplin, W. 2007 Oxytocin increases retention of social cognition in autismBiol Psychiatry 61 498CrossRef Google Scholar PubMed

Holtzman, D. 2008 Autistic spectrum disorders and mitochondrial encephalopathiesActa Paediatr 97 859CrossRef Google Scholar PubMed

Hrdlicka, M. 2008 EEG abnormalities, epilepsy and regression in autism: a reviewNeuro Endocrinol Lett 29 405Google Scholar PubMed

Huang, C. H.Santangelo, S. L. 2008 Autism and serotonin transporter gene polymorphisms: a systematic review and meta-analysisAm J Genet B Neuropsychiatr Genet 147 903CrossRef Google Scholar

Insel, T. R.O’Brien, D. J.Leckman, J. F. 1999 Oxytocin, vasopressin, and autism: is there a connection?Biol Psychiatry 45 145CrossRef Google Scholar

Jacob, S.Brune, C. W.Carter, C. S. 2007 Association of the oxytocin receptor gene () in Caucasian children and adolescents with autismNeurosci Lett 417 6CrossRef Google Scholar PubMed

Jamain, S.Quach, H.Betancur, C. 2003 Mutations of the X-linked genes encoding neuroligins 3 and 4 are associated with autismNat Genet 34 27CrossRef Google Scholar

James, S. J. 2008 Oxidative stress and the metabolic pathology of autismZimmerman, A. W.Autism: Current Theories and Evidence245Baltimore, MDHumana PressCrossRef Google Scholar

James, S. J.Melnyk, S.Jernigan, S. 2006 Metabolic endophenotype and related genotypes are associated with oxidative stress in children with autismAm J Med Genet B Neuropsychiatr Genet 141 947CrossRef Google Scholar

James, S. J.Melnyk, S.Jernigan, S.et al 2008 Abnormal transmethylation/transsulfuration metabolism and DNA hypomethylation among parents of children with autismJ Autism Dev Disord 38 1966CrossRef Google Scholar PubMed

James, W. H. 2008 Further evidence that some male-based neurodevelopmental disorders are associated with high intrauterine testosterone concentrationsDev Med Child Neurol 50 15CrossRef Google Scholar PubMed

Kalkbrenner, A. E.Daniels, J. L.Chen, J. C. 2010 Perinatal exposure to hazardous air pollutants and autism spectrum disorders at age 8Epidemiology 21 631CrossRef Google Scholar PubMed

Kayaalp, L.Dervent, A.Saltik, S. 2007 EEG abnormalities in West syndrome: correlation with the emergence of autistic featuresBrain Dev 29 336CrossRef Google Scholar PubMed

Keil, A.Daniels, J. L.Forssen, U. 2010 Parental autoimmune diseases associated with autism spectrum disorders in offspringEpidemiology 21 805CrossRef Google Scholar PubMed

Kelley, K. R.Moshe, S. L. 2006 Electrophysiology and epilepsy in autismTuchman, R.Rapin, I.Autism: A Neurological Disorder of Early Brain Development160LondonMac Keith PressGoogle Scholar

Kent, L.Gallagher, L.Elliott, H. R. 2008 An investigation of mitochondrial haplogroups in autismAm J Med Genet B Neuropsychiatr Genet 147 987CrossRef Google Scholar

Kinney, D. K.Barch, D. H.Chayka, B. 2010 Environmental risk factors for autism: do they help cause de novo genetic mutations that contribute to the disorder?Med Hypotheses 74 102CrossRef Google Scholar PubMed

Kinney, D. K.Munir, K. M.Crowley, D. J. 2008 Prenatal stress and risk for autismNeurosci Biobehav Rev 32 1519CrossRef Google Scholar PubMed

Kirsch, P.Esslinger, C.Chen, Q. 2005 Oxytocin modulates neural circuitry for social cognition and fear in humansJ Neurosci 25 11489CrossRef Google Scholar PubMed

Kistner-Griffin, E.Brune, C. W.Davis, L. K. 2011 Parent-of-origin effects of the serotonin transporter gene associated with autismAm J Med Genet B Neuropsychiatr Genet 156 139CrossRef Google Scholar PubMed

Knickmeyer, R. C.Baron-Cohen, S. 2006 Fetal testosterone and sex differences in typical social development and in autismJ Child Neurol 21 825CrossRef Google Scholar PubMed

Kumar, R. A.Christian, S. L. 2009 Genetics of autism spectrum disordersCurr Neurol Neurosci Rep 9 188CrossRef Google Scholar PubMed

Kumar, R. A.KaraMohamed, S.Sudi, J. 2008 Recurrent 16p11.2 microdeletions in autismHum Mol Genet 17 628CrossRef Google Scholar PubMed

Landrigan, P. J. 2010 What causes autism? Exploring the environmental contributionCurr Opin Pediatr 22 219CrossRef Google Scholar PubMed

Larsson, M.Weiss, B.Janson, S. 2009 Associations between indoor environmental factors and parental-reported autistic spectrum disorders in children 6–8 years of ageNeurotoxicology 30 822CrossRef Google Scholar PubMed

Lerer, E.Levi, S.Salomon, S. 2008 Association between the oxytocin receptor () gene and autism: relationship to Vineland Adaptive Behavior Scales and cognitionMol Psychiatry 13 980CrossRef Google Scholar PubMed

Lerman-Sagie, T.Leshinsky-Silver, E.Watemberg, N. 2004 Should autistic children be evaluated for mitochondrial disorders?J Child Neurol 19 379CrossRef Google Scholar PubMed

Lewandowski, T. A.Bartell, S. M.Yager, J. W. 2009 An evaluation of surrogate chemical exposure measures and autism prevalence in TexasJ Toxicol Environ Health A 72 1592CrossRef Google Scholar PubMed

Li, X.Chauhan, A.Sheikh, A. M. 2009 Elevated immune response in the brain of autistic patientsJ Neuroimmunol 207 111CrossRef Google Scholar PubMed

Losh, M.Sullivan, P. F.Trembath, D. 2008 Current developments in the genetics of autism: from phenome to genomeJ Neuropathol Exp Neurol 67 829CrossRef Google Scholar

Ma, D.Salyakina, D.Jaworski, J. M. 2009 A genome-wide association study of autism reveals a common novel risk locus at 5p14.1Ann Hum Genet 73 263CrossRef Google Scholar PubMed

Marshall, C. R.Noor, A.Vincent, J. B. 2008 Structural variation of chromosomes in autism spectrum disorderAm J Hum Genet 82 477CrossRef Google Scholar PubMed

Martin, C. L.Ledbetter, D. H. 2007 Autism and cytogenetic abnormalities: solving autism one chromosome at a timeCurr Psychiatry Rep 9 141CrossRef Google Scholar PubMed

Martin, L. A.Ashwood, P.Braunschweig, D. 2008 Stereotypies and hyperactivity in rhesus monkeys exposed to IgG from mothers of children with autismBrain Behav Immun 22 806CrossRef Google Scholar PubMed

Marui, T.Funatogawa, I.Koishi, S. 2011 The NADH-ubiquinone oxidoreductase 1 alpha subcomplex 5 (5) gene variants are associated with autismActa Psychiatr Scand 123 118CrossRef Google Scholar PubMed

Ming, X.Johnson, W. G.Stenroos, E. S. 2010 Genetic variant of glutathione peroxidase 1 in autismBrain Dev 32 105CrossRef Google Scholar PubMed

Molloy, C. A.Morrow, A. L.Meinzen-Derr, J. 2006 Elevated cytokine levels in children with autism spectrum disorderJ Neuroimmunol 172 198CrossRef Google Scholar PubMed

Mostafa, G. A.Shehab, A. A. 2010 The link of C4B null allele to autism and to a family history of autoimmunity in Egyptian autistic childrenJ Neuroimmunol 223 115CrossRef Google Scholar PubMed

Mouridsen, S. E.Rich, B.Isager, T. 2009 Selected testosterone-related diseases in women who have given birth to a child with infantile autismPsychiatry Clin Neurosci 63 586CrossRef Google Scholar PubMed

Mouridsen, S. E.Rich, B.Isager, T. 2010 Sibling sex ratio of individuals diagnosed with autism spectrum disorder as childrenDev Med Child Neurol 52 289CrossRef Google Scholar PubMed

Mouridsen, S. E.Rich, B.Isager, T. 2011 Epilepsy and other central nervous system diseases in atypical autism: a case control studyJ Neural Transm 118 621CrossRef Google Scholar PubMed

O’Roak, B. J.State, M. W. 2008 Autism genetics: strategies, challenges, and opportunitiesAutism Res 1 4CrossRef Google Scholar PubMed

Offit, P. A. 2008 Vaccines and autism revisited – the Hannah Poling caseN Engl J Med 358 2089CrossRef Google Scholar PubMed

Oliveira, G.Diogo, L.Grazina, M. 2005 Mitochondrial dysfunction in autism spectrum disorders: a population-based studyDev Med Child Neurol 47 185CrossRef Google Scholar PubMed

Ozonoff, S.Young, G. S.Carter, A. 2011

Palmer, R. F.Blanchard, S.Stein, Z. 2006 Environmental mercury release, special education rates, and autism disorder: an ecological study of TexasHealth Place 12 203CrossRef Google Scholar PubMed

Pardo, C. A.Eberhart, C. G. 2007 The neurobiology of autismBrain Pathol 17 434CrossRef Google Scholar PubMed

Pardo, C. A.Vargas, D. L.Zimmerman, A. W. 2005 Immunity, neuroglia and neuroinflammation in autismInt Rev Psychiatry 17 485CrossRef Google Scholar PubMed

Pardo-Villamizar, C. A. 2008 Can neuroinflammation influence the development of autism spectrum disorders?Zimmerman, A. W.Autism: Current Theories and Evidence329Baltimore, MDHumana PressCrossRef Google Scholar

Persico, A. M.Bourgeron, T. 2006 Searching for ways out of the autism maze: genetic, epigenetic and environmental cluesTrends Neurosci 29 349CrossRef Google Scholar PubMed

Pinto, D.Pagnamenta, A. T.Klei, L. 2010 Functional-impact of global rare copy number variation in autism spectrum disordersNature 466 368CrossRef Google Scholar PubMed

Pons, R.Andreu, A. L.Checcarelli, N. 2004 Mitochondrial DNA abnormalities and autistic spectrum disordersJ Pediatr 144 81CrossRef Google Scholar PubMed

Psychiatric GWAS Consortium Coordinating CommitteeCichon, S.Craddock, N. 2009 Genomewide association studies: history, rationale, and prospects for psychiatric disordersAm J Psychiatry 166 540Google Scholar PubMed

Ronald, A.Happé, F.Bolton, P. 2006 Genetic heterogeneity between the three components of the autism spectrum: a twin studyJ Am Acad Child Adolesc Psychiatry 45 691CrossRef Google Scholar PubMed

Rosenberg, R. E.Law, J. K.Yenokyan, G. 2009 Characteristics and concordance of autism spectrum disorders among 277 twin pairsArch Pediatr Adolesc Med 163 907CrossRef Google Scholar PubMed

Rossi, C. C.Van de Water, J.Rogers, S. J. 2011 Detection of plasma autoantibodies to brain tissue in young children with and without autism spectrum disordersBrain Behav Immun 25 1123CrossRef Google Scholar PubMed

Saemundsen, E.Ludvigsson, P.Rafnsson, V. 2007 Autism spectrum disorders in children with a history of infantile spasms: a population-based studyJ Child Neurol 22 1102CrossRef Google Scholar PubMed

Sebat, J.Lakshmi, B.Malhotra, D. 2007 Strong association of de novo copy number mutations with autismScience 316 445CrossRef Google Scholar PubMed

Shinawi, M.Cheung, S. W. 2008 The array CGH and its clinical applicationsDrug Discov Today 13 760CrossRef Google Scholar PubMed

Shoffner, J.Hyams, L.Langley, G. N. 2010 Fever plus mitochondrial disease could be risk factors for autistic regressionJ Child Neurol 25 429CrossRef Google Scholar PubMed

Singer, H. S.Morris, C. M.Gause, C. D. 2008 Antibodies against fetal brain in sera of mothers of autistic childrenJ Neuroimmunol 194 165CrossRef Google Scholar PubMed

Singer, H. S.Morris, C. M.Williams, P. N. 2006 Antibrain antibodies in children with autism and their unaffected siblingsJ Neuroimmunol 178 149CrossRef Google Scholar PubMed

Singer, H. S.Morris, C.Gause, C. 2009 Prenatal exposure to antibodies from mothers of children with autism produces neurobehavioral alterations: a pregnant dam mouse modelJ Neuroimmunol 211 39CrossRef Google Scholar PubMed

Skuse, D. H. 2009 Is autism really a coherent syndrome in boys, or girls?Br J Psychol 100 39CrossRef Google Scholar PubMed

Spence, S. J.Schneider, M. T. 2009 The role of epilepsy and epileptiform EEGs in autism spectrum disordersPediatr Res 65 599CrossRef Google Scholar PubMed

Szatmari, P.Jones, M. B. 2007 Genetic epidemiology of autism spectrum disordersVolkmar, F. R.Autism and Pervasive Developmental Disorders157New York, NYCambridge University PressCrossRef Google Scholar

Szatmari, P.Paterson, A. D.Zwaigenbaum, L. 2007 Mapping autism risk loci using genetic linkage and chromosomal rearrangementsNat Genet 39 319Google Scholar PubMed

Tuchman, R. 2009 CSWS-related autistic regression versus autistic regression without CSWSEpilepsia 50 18CrossRef Google Scholar PubMed

Tuchman, R.Moshé, S. L.Rapin, I. 2009 Convulsing toward the pathophysiology of autismBrain Dev 31 95CrossRef Google Scholar PubMed

Tuchman, R.Cuccaro, M.Alessandri, M. 2010 Autism and epilepsy: historical perspectiveBrain Dev 32 709CrossRef Google Scholar PubMed

Varga, E. A.Pastore, M.Prior, T. 2009 The prevalence of mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephalyGenet Med 11 111CrossRef Google Scholar

Vargas, D. L.Nascimbene, C.Krishnan, C. 2005 Neuroglial activation and neuroinflammation in the brain of patients with autismAnn Neurol 57 67CrossRef Google Scholar PubMed

Wang, K.Zhang, H.Ma, D. 2009 Common genetic variants on 5p14.1 associate with autism spectrum disordersNature 459 528CrossRef Google Scholar PubMed

Weiss, L. A.Shen, Y.Korn, J. M. 2008 Association between microdeletion and microduplication at 16p11.2 and autismN Engl J Med 358 667CrossRef Google Scholar PubMed

Weiss, L. A.Arking, D. E.Gene Discovery Project of Johns Hopkins & the Autism Consortium 2009 A genome-wide linkage and association scan reveals novel loci for autismNature 461 802CrossRef Google Scholar PubMed

Weissman, J. R.Kelley, R. I.Bauman, M. L. 2008 Mitochondrial disease in autism spectrum disorder patients: a cohort analysisPLoS One 3 e3815 1CrossRef Google Scholar PubMed

Windham, G. C.Zhang, L.Gunier, R. 2006 Autism spectrum disorders in relation to distribution of hazardous air pollutants in the San Francisco bay areaEnviron Health Perspect 114 1438CrossRef Google Scholar PubMed

Yan, J.Oliveira, G.Coutinho, A. 2004 Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patientsMol Psychiatry 10 329CrossRef Google Scholar

Zecavati, N.Spence, S. J. 2009 Neurometabolic disorders and dysfunction in autism spectrum disordersCurr Neurol Neurosci Rep 9 129CrossRef Google Scholar PubMed

Zimmerman, A. W.Connors, S. L.Pardo-Villamizar, C. A. 2006 Neuroimmunology and neurotransmitters in autismTuchman, R.Rapin, I.Autism: A Neurological Disorder of Early Brain Development141LondonMac Keith PressGoogle Scholar

Zimmerman, A. W.Connors, S. L.Matteson, K. J. 2007 Maternal antibrain antibodies in autismBrain Behav Immun 21 351CrossRef Google Scholar PubMed

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Chapter 6 - Etiology

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