Skip to main content
SpringerLink
Log in

Overview and Introduction to Autism Spectrum Disorder (ASD)

  • Chapter
  • First Online:
Personalized Food Intervention and Therapy for Autism Spectrum Disorder Management

Part of the book series: Advances in Neurobiology ((NEUROBIOL,volume 24))

Abstract

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder generally manifesting in the first few years of life and tending to persist into adolescence and adulthood. It is characterized by deficits in communication and social interaction and restricted, repetitive patterns of behavior, interests, and activities. It is a disorder with multifactorial etiology. In this chapter, we will focus on the most important and common epidemiological studies, pathogenesis, screening, and diagnostic tools along with an explication of genetic testing in ASD.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 129.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Kanner, L. (1943). Autistic disturbances of affective contact. The Nervous Child, 2, 217–250.

    Google Scholar 

  2. Asperger, H. (1944). Die “Autistischen Psychopathen” im Kindesalter. Archiv f. Psychiatrie, 117(1), 76–136.

    Article  Google Scholar 

  3. Elsabbagh, M., Divan, G., Koh, Y.-J., Kim, Y. S., Kauchali, S., Marcín, C., et al. (2012). Global prevalence of autism and other pervasive developmental disorders. Autism Research, 5(3), 160–179.

    Article  PubMed  PubMed Central  Google Scholar 

  4. Wiśniowiecka-Kowalnik, B., & Nowakowska, B. A. (2019). Genetics and epigenetics of autism spectrum disorder-current evidence in the field. Journal of Applied Genetics, 60(1), 37–47.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Baxter, A. J., Brugha, T. S., Erskine, H. E., Scheurer, R. W., Vos, T., & Scott, J. G. (2015). The epidemiology and global burden of autism spectrum disorders. Psychological Medicine, 45(3), 601–613.

    Article  CAS  PubMed  Google Scholar 

  6. Baio, J., Wiggins, L., Christensen, D. L., Maenner, M. J., Daniels, J., Warren, Z., et al. (2018). Prevalence of autism spectrum disorder among children aged 8 years - Autism and developmental disabilities monitoring network, 11 sites, United States, 2014. MMWR Surveillance Summaries, 67(6), 1–23.

    Article  PubMed Central  Google Scholar 

  7. Baird, G., Simonoff, E., Pickles, A., Chandler, S., Loucas, T., Meldrum, D., et al. (2006). Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: The Special Needs and Autism Project (SNAP). Lancet, 368(9531), 210–215.

    Article  PubMed  Google Scholar 

  8. Brugha, T. S., Spiers, N., Bankart, J., Cooper, S.-A., McManus, S., Scott, F. J., et al. (2016). Epidemiology of autism in adults across age groups and ability levels. The British Journal of Psychiatry, 209(6), 498–503.

    Article  PubMed  Google Scholar 

  9. Chien, I.-C., Lin, C.-H., Chou, Y.-J., & Chou, P. (2011). Prevalence and incidence of autism spectrum disorders among national health insurance enrollees in Taiwan from 1996 to 2005. Journal of Child Neurology, 26(7), 830–834.

    Article  PubMed  Google Scholar 

  10. Christensen, D. L., Baio, J., Van Naarden Braun, K., Bilder, D., Charles, J., Constantino, J. N., et al. (2016). Prevalence and characteristics of autism spectrum disorder among children aged 8 years--autism and developmental disabilities monitoring network, 11 sites, United States, 2012. MMWR Surveillance Summaries, 65(3), 1–23.

    Article  PubMed Central  Google Scholar 

  11. Investigators, D. D. M. N. S. Y. P. and C. f. D. C. a. P. (CDC). (2014). Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2010. MMWR Surveillance Summaries, 63(2), 1–21.

    Google Scholar 

  12. Kim, Y. S., Leventhal, B. L., Koh, Y.-J., Fombonne, E., Laska, E., Lim, E.-C., et al. (2011). Prevalence of autism spectrum disorders in a total population sample. The American Journal of Psychiatry, 168(9), 904–912.

    Article  PubMed  Google Scholar 

  13. Kogan, M. D., Vladutiu, C. J., Schieve, L. A., Ghandour, R. M., Blumberg, S. J., Zablotsky, B., et al. (2018). The prevalence of parent-reported autism spectrum disorder among US children. Pediatrics, 142, 6.

    Article  Google Scholar 

  14. Schendel, D. E., & Thorsteinsson, E. (2018). Cumulative incidence of autism into adulthood for birth cohorts in Denmark, 1980–2012. JAMA, 320(17), 1811–1813.

    Article  PubMed  PubMed Central  Google Scholar 

  15. Surén, P., Bakken, I. J., Aase, H., Chin, R., Gunnes, N., Lie, K. K., et al. (2012). Autism spectrum disorder, ADHD, epilepsy, and cerebral palsy in Norwegian children. Pediatrics, 130(1), 152–158.

    Article  Google Scholar 

  16. Webb, E., Morey, J., Thompsen, W., Butler, C., Barber, M., & Fraser, W. I. (2003). Prevalence of autistic spectrum disorder in children attending mainstream schools in a Welsh education authority. Developmental Medicine and Child Neurology, 45(6), 377–384.

    Article  CAS  PubMed  Google Scholar 

  17. Williams, J. G., Allison, C., Scott, F. J., Bolton, P. F., Baron-Cohen, S., Matthews, F. E., et al. (2008a). The childhood autism spectrum test (CAST): Sex differences. Journal of Autism and Developmental Disorders, 38(9), 1731–1739.

    Article  PubMed  Google Scholar 

  18. Xu, G., Strathearn, L., Liu, B., & Bao, W. (2018). Prevalence of autism spectrum disorder among US children and adolescents, 2014–2016. JAMA, 319(1), 81–82.

    Article  PubMed  PubMed Central  Google Scholar 

  19. Zablotsky, B., Black, L. I., Maenner, M. J., Schieve, L. A., & Blumberg, S. J. (2015). Estimated prevalence of autism and other developmental disabilities following questionnaire changes in the 2014 national health interview survey. Natl. Health Stat. Report., 87, 1–20.

    Google Scholar 

  20. Investigators, A. a. D. D. M. N. S. Y. P. and C. f. D. C. a. P. (CDC). (2009). Prevalence of autism spectrum disorders - Autism and developmental disabilities monitoring network, United States, 2006. MMWR Surveillance Summaries, 58(10), 1–20.

    Google Scholar 

  21. Investigators, D. D. M. N. S. Y. P. and C. f. D. C. a. P. (CDC). (2012). Prevalence of autism spectrum disorders--Autism and developmental disabilities monitoring network, 14 sites, United States, 2008. MMWR Surveillance Summaries, 61(3), 1–19.

    Google Scholar 

  22. Lai, M.-C., Lombardo, M. V., & Baron-Cohen, S. (2014). Autism. Lancet, 383(9920), 896–910.

    Article  PubMed  Google Scholar 

  23. Williams, J. G., Higgins, J. P. T., & Brayne, C. E. G. (2006a). Systematic review of prevalence studies of autism spectrum disorders. Archives of Disease in Childhood, 91(1), 8–15.

    Article  CAS  PubMed  Google Scholar 

  24. Fombonne, E. (2009). Epidemiology of pervasive developmental disorders. Pediatric Research, 65(6), 591–598.

    Article  PubMed  Google Scholar 

  25. Shattuck, P. T. (2006). The contribution of diagnostic substitution to the growing administrative prevalence of autism in US special education. Pediatrics, 117(4), 1028–1037.

    Article  PubMed  Google Scholar 

  26. Williams, J., Allison, C., Scott, F., Stott, C., Bolton, P., Baron-Cohen, S., et al. (2006b). The childhood Asperger syndrome test (CAST): Test-retest reliability. Autism, 10(4), 415–427.

    Article  PubMed  Google Scholar 

  27. Wing, L., & Potter, D. (2002). The epidemiology of autistic spectrum disorders: Is the prevalence rising? Mental Retardation and Developmental Disabilities Research Reviews, 8(3), 151–161.

    Article  PubMed  Google Scholar 

  28. Barbaresi, W. J., Katusic, S. K., Colligan, R. C., Weaver, A. L., & Jacobsen, S. J. (2005). The incidence of autism in Olmsted County, Minnesota, 1976–1997: Results from a population-based study. Archives of Pediatrics & Adolescent Medicine, 159(1), 37–44.

    Article  Google Scholar 

  29. Bishop, D. V. M., Whitehouse, A. J. O., Watt, H. J., & Line, E. A. (2008). Autism and diagnostic substitution: Evidence from a study of adults with a history of developmental language disorder. Developmental Medicine and Child Neurology, 50(5), 341–345.

    Article  PubMed  Google Scholar 

  30. Croen, L. A., Grether, J. K., Hoogstrate, J., & Selvin, S. (2002). The changing prevalence of autism in California. Journal of Autism and Developmental Disorders, 32(3), 207–215.

    Article  PubMed  Google Scholar 

  31. Hertz-Picciotto, I., & Delwiche, L. (2009). The rise in autism and the role of age at diagnosis. Epidemiology, 20(1), 84–90.

    Article  PubMed  PubMed Central  Google Scholar 

  32. Mandell, D. S., & Palmer, R. (2005). Differences among states in the identification of autistic spectrum disorders. Archives of Pediatrics & Adolescent Medicine, 159(3), 266–269.

    Article  Google Scholar 

  33. Parner, E. T., Schendel, D. E., & Thorsen, P. (2008). Autism prevalence trends over time in Denmark: Changes in prevalence and age at diagnosis. Archives of Pediatrics & Adolescent Medicine, 162(12), 1150–1156.

    Article  Google Scholar 

  34. Loomes, R., Hull, L., & Mandy, W. P. L. (2017). What is the male-to-female ratio in autism spectrum disorder? A systematic review and meta-analysis. Journal of the American Academy of Child and Adolescent Psychiatry, 56(6), 466–474.

    Article  PubMed  Google Scholar 

  35. Asherson, P. J., & Curran, S. (2001). Approaches to gene mapping in complex disorders and their application in child psychiatry and psychology. The British Journal of Psychiatry, 179, 122-8. Review.

    Article  PubMed  Google Scholar 

  36. Bolton, P., Macdonald, H., Pickles, A., Rios, P., Goode, S., Crowson, M., et al. (1994). A case-control family history study of autism. Journal of Child Psychology and Psychiatry, 35(5), 877–900.

    Article  CAS  PubMed  Google Scholar 

  37. Fombonne, E., Zakarian, R., Bennett, A., Meng, L., & McLean-Heywood, D. (2006). Pervasive developmental disorders in Montreal, Quebec, Canada: Prevalence and links with immunizations. Pediatrics, 118(1), 139–150.

    Article  Google Scholar 

  38. Jorde, L. B., Hasstedt, S. J., Ritvo, E. R., Mason-Brothers, A., Freeman, B. J., Pingree, C., et al. (1991). Complex segregation analysis of autism. American Journal of Human Genetics, 49(5), 932–938.

    CAS  PubMed  PubMed Central  Google Scholar 

  39. Lauritsen, M. B., Pedersen, C. B., & Mortensen, P. B. (2005). Effects of familial risk factors and place of birth on the risk of autism: A nationwide register-based study. Journal of Child Psychology and Psychiatry, 46(9), 963–971.

    Article  PubMed  Google Scholar 

  40. Muhle, R., Trentacoste, S. V., & Rapin, I. (2004). The genetics of autism. Pediatrics, 113(5), 472–486.

    Article  Google Scholar 

  41. Ozonoff, S., Young, G. S., 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), 488–495.

    Google Scholar 

  42. Piven, J., Gayle, J., Chase, G. A., Fink, B., Landa, R., Wzorek, M. M., et al. (1990). A family history study of neuropsychiatric disorders in the adult siblings of autistic individuals. Journal of the American Academy of Child and Adolescent Psychiatry, 29(2), 177–183.

    Article  CAS  PubMed  Google Scholar 

  43. Risch, N., Spiker, D., Lotspeich, L., Nouri, N., Hinds, D., Hallmayer, J., et al. (1999). A genomic screen of autism: Evidence for a multilocus etiology. American Journal of Human Genetics, 65(2), 493–507.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  44. Schaefer, G. B., Mendelsohn, N. J., & Professional Practice and Guidelines Committee. (2013). Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genetics in Medicine, 15(5), 399–407.

    Article  CAS  PubMed  Google Scholar 

  45. Constantino, J. N., Zhang, Y., Frazier, T., Abbacchi, A. M., & Law, P. (2010). Sibling recurrence and the genetic epidemiology of autism. The American Journal of Psychiatry, 167(11), 1349–1356.

    Article  PubMed  PubMed Central  Google Scholar 

  46. Palmer, N., Beam, A., Agniel, D., Eran, A., Manrai, A., Spettell, C., et al. (2017). Association of sex with recurrence of autism spectrum disorder among siblings. JAMA Pediatrics, 171(11), 1107–1112.

    Article  PubMed  PubMed Central  Google Scholar 

  47. Schaefer, G. B., & Mendelsohn, N. J. (2013). Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genetics in Medicine, 15(5), 399–407.

    Article  CAS  PubMed  Google Scholar 

  48. Simonoff, E. (1998). Genetic counseling in autism and pervasive developmental disorders. Journal of Autism and Developmental Disorders, 28(5), 447–456.

    Article  CAS  PubMed  Google Scholar 

  49. Dalton, K. M., Nacewicz, B. M., Alexander, A. L., & Davidson, R. J. (2007). Gaze-fixation, brain activation, and amygdala volume in unaffected siblings of individuals with autism. Biological Psychiatry, 61(4), 512–520.

    Article  PubMed  Google Scholar 

  50. Gamliel, I., Yirmiya, N., Jaffe, D. H., Manor, O., & Sigman, M. (2009). Developmental trajectories in siblings of children with autism: Cognition and language from 4 months to 7 years. Journal of Autism and Developmental Disorders, 39(8), 1131–1144.

    Article  PubMed  PubMed Central  Google Scholar 

  51. Gamliel, I., Yirmiya, N., & Sigman, M. (2007). The development of young siblings of children with autism from 4 to 54 months. Journal of Autism and Developmental Disorders, 37(1), 171–183.

    Article  PubMed  Google Scholar 

  52. Piven, J., Palmer, P., Jacobi, D., Childress, D., & Arndt, S. (1997). Broader autism phenotype: Evidence from a family history study of multiple-incidence autism families. The American Journal of Psychiatry, 154(2), 185–190.

    Article  CAS  PubMed  Google Scholar 

  53. Yirmiya, N., Gamliel, I., Shaked, M., & Sigman, M. (2007). Cognitive and verbal abilities of 24- to 36-month-old siblings of children with autism. Journal of Autism and Developmental Disorders, 37(2), 218–229.

    Article  PubMed  Google Scholar 

  54. Baron-Cohen, S. (2006). Two new theories of autism: Hyper-systemising and assortative mating. Archives of Disease in Childhood, 91(1), 2–5.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  55. Ecker, C., Bookheimer, S. Y., & Murphy, D. G. M. (2015). Neuroimaging in autism spectrum disorder: Brain structure and function across the lifespan. Lancet Neurology, 14(11), 1121–1134.

    Article  PubMed  Google Scholar 

  56. Muhle, R. A., Reed, H. E., Stratigos, K. A., & Veenstra-VanderWeele, J. (2018). The emerging clinical neuroscience of autism spectrum disorder: A review. JAMA Psychiatry, 75(5), 514–523.

    Article  PubMed  Google Scholar 

  57. Lopez-Rangel, E., & Lewis, M. E. S. (2006). Loud and clear evidence for gene silencing by epigenetic mechanisms in autism spectrum and related neurodevelopmental disorders. Clinical Genetics, 69(1), 21–22.

    Article  CAS  PubMed  Google Scholar 

  58. Samaco, R. C., Nagarajan, R. P., Braunschweig, D., & LaSalle, J. M. (2004). Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum disorders. Human Molecular Genetics, 13(6), 629–639.

    Article  CAS  PubMed  Google Scholar 

  59. Bacchelli, E., & Maestrini, E. (2006). Autism spectrum disorders: Molecular genetic advances. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 142C(1), 13–23.

    Article  CAS  PubMed  Google Scholar 

  60. 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. Archives of General Psychiatry, 68(11), 1095–1102.

    Article  PubMed  PubMed Central  Google Scholar 

  61. Robinson, E. B., Neale, B. M., & Hyman, S. E. (2015). Genetic research in autism spectrum disorders. Current Opinion in Pediatrics, 27(6), 685–691.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  62. Sahin, M., & Sur, M. (2015). Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders. Science, 350, 6263.

    Article  CAS  Google Scholar 

  63. Yuen, R. K. C., Thiruvahindrapuram, B., Merico, D., Walker, S., Tammimies, K., Hoang, N., et al. (2015). Whole-genome sequencing of quartet families with autism spectrum disorder. Nature Medicine, 21(2), 185–191.

    Article  CAS  PubMed  Google Scholar 

  64. Fernandez, B. A., & Scherer, S. W. (2017). Syndromic autism spectrum disorders: Moving from a clinically defined to a molecularly defined approach. Dialogues in Clinical Neuroscience, 19(4), 353–371.

    PubMed  PubMed Central  Google Scholar 

  65. Woodbury-Smith, M., & Scherer, S. W. (2018). Progress in the genetics of autism spectrum disorder. Developmental Medicine and Child Neurology, 60(5), 445–451.

    Article  PubMed  Google Scholar 

  66. Rosenberg, R. E., Law, J. K., Yenokyan, G., McGready, J., Kaufmann, W. E., & Law, P. A. (2009). Characteristics and concordance of autism spectrum disorders among 277 twin pairs. Archives of Pediatrics & Adolescent Medicine, 163(10), 907–914.

    Article  Google Scholar 

  67. Lichtenstein, P., Carlström, E., Råstam, M., Gillberg, C., & Anckarsäter, H. (2010). The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood. The American Journal of Psychiatry, 167(11), 1357–1363.

    Article  PubMed  Google Scholar 

  68. Sandin, S., Lichtenstein, P., Kuja-Halkola, R., Larsson, H., Hultman, C. M., & Reichenberg, A. (2014). The familial risk of autism. JAMA, 311(17), 1770–1777.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  69. Colvert, E., Tick, B., McEwen, F., Stewart, C., Curran, S. R., Woodhouse, E., et al. (2015). Heritability of autism spectrum disorder in a UK population-based twin sample. JAMA Psychiatry, 72(5), 415–423.

    Article  PubMed  PubMed Central  Google Scholar 

  70. Sandin, S., Lichtenstein, P., Kuja-Halkola, R., Hultman, C., Larsson, H., & Reichenberg, A. (2017). The heritability of autism spectrum disorder. JAMA, 318(12), 1182–1184.

    Article  PubMed  PubMed Central  Google Scholar 

  71. Cheng, Y., Qin, G., Dai, X., & Zhao, Y. (2007). NPY1, a BTB-NPH3-like protein, plays a critical role in auxin-regulated organogenesis in Arabidopsis. PNAS, 104(47), 18825–18829.

    Article  PubMed  PubMed Central  Google Scholar 

  72. Yin, J., & Schaaf, C. P. (2017). Autism genetics - An overview. Prenatal Diagnosis, 37(1), 14–30.

    Article  PubMed  Google Scholar 

  73. Boddaert, N., Zilbovicius, M., Philipe, A., Robel, L., Bourgeois, M., Barthélemy, C., et al. (2009). MRI findings in 77 children with non-syndromic autistic disorder. PLoS One, 4(2), e4415.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  74. Courchesne, E., Mouton, P. R., Calhoun, M. E., Semendeferi, K., Ahrens-Barbeau, C., Hallet, M. J., et al. (2011). Neuron number and size in prefrontal cortex of children with autism. JAMA, 306(18), 2001–2010.

    Article  CAS  PubMed  Google Scholar 

  75. Hazlett, H. C., Gu, H., Munsell, B. C., Kim, S. H., Styner, M., Wolff, J. J., et al. (2017). Early brain development in infants at high risk for autism spectrum disorder. Nature, 542(7641), 348–351.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  76. Bauman, M. L., & Kemper, T. L. (2003). The neuropathology of the autism spectrum disorders: What have we learned? Novartis Foundation Symposium, 251, 112–122.

    PubMed  Google Scholar 

  77. Chen, R., Jiao, Y., & Herskovits, E. H. (2011). Structural MRI in autism spectrum disorder. Pediatric Research, 69(5 Pt), 63R–68R.

    Article  PubMed  PubMed Central  Google Scholar 

  78. Foster, N. E. V., Doyle-Thomas, K. A. R., Tryfon, A., Ouimet, T., Anagnostou, E., Evans, A. C., et al. (2015). Structural gray matter differences during childhood development in autism spectrum disorder: A multimetric approach. Pediatric Neurology, 53(4), 350–359.

    Article  PubMed  Google Scholar 

  79. Lainhart, J. E. (2006). Advances in autism neuroimaging research for the clinician and geneticist. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 142C(1), 33–39.

    Article  PubMed  Google Scholar 

  80. Pelphrey, K., Adolphs, R., & Morris, J. P. (2004). Neuroanatomical substrates of social cognition dysfunction in autism. Mental Retardation and Developmental Disabilities Research Reviews, 10(4), 259–271.

    Article  PubMed  Google Scholar 

  81. Stoner, R., Chow, M. L., Boyle, M. P., Sunkin, S. M., Mouton, P. R., Roy, S., et al. (2014). Patches of disorganization in the neocortex of children with autism. The New England Journal of Medicine, 370(13), 1209–1219.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  82. Supekar, K., Kochalka, J., Schaer, M., Wakeman, H., Qin, S., Padmanabhan, A., et al. (2018). Deficits in mesolimbic reward pathway underlie social interaction impairments in children with autism. Brain, 141(9), 2795–2805.

    PubMed  PubMed Central  Google Scholar 

  83. Tang, G., Gudsnuk, K., Kuo, S.-H., Cotrina, M. L., Rosoklija, G., Sosunov, A., et al. (2014). Loss of mTOR-dependent macroautophagy causes autistic-like synaptic pruning deficits. Neuron, 83(5), 1131–1143.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  84. Bailey, A. J., Braeutigam, S., Jousmäki, V., & Swithenby, S. J. (2005). Abnormal activation of face processing systems at early and intermediate latency in individuals with autism spectrum disorder: A magnetoencephalographic study. The European Journal of Neuroscience, 21(9), 2575–2585.

    Article  PubMed  Google Scholar 

  85. Clements, C. C., Zoltowski, A. R., Yankowitz, L. D., Yerys, B. E., Schultz, R. T., & Herrington, J. D. (2018). Evaluation of the social motivation hypothesis of autism: A systematic review and meta-analysis. JAMA Psychiatry, 75(8), 797–808.

    Article  PubMed  PubMed Central  Google Scholar 

  86. Dalton, K. M., Nacewicz, B. M., Johnstone, T., Schaefer, H. S., Gernsbacher, M. A., Goldsmith, H. H., et al. (2005). Gaze fixation and the neural circuitry of face processing in autism. Nature Neuroscience, 8(4), 519–526.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  87. Emerson, R. W., Adams, C., Nishino, T., Hazlett, H. C., Wolff, J. J., Zwaigenbaum, L., et al. (2017). Functional neuroimaging of high-risk 6-month-old infants predicts a diagnosis of autism at 24 months of age. Science Translational Medicine, 9, 393.

    Article  Google Scholar 

  88. Gervais, H., Belin, P., Boddaert, N., Leboyer, M., Coez, A., Sfaello, I., et al. (2004). Abnormal cortical voice processing in autism. Nature Neuroscience, 7(8), 801–802.

    Article  CAS  PubMed  Google Scholar 

  89. Kasai, K., Hashimoto, O., Kawakubo, Y., Yumoto, M., Kamio, S., Itoh, K., et al. (2005). Delayed automatic detection of change in speech sounds in adults with autism: A magnetoencephalographic study. Clinical Neurophysiology, 116(7), 1655–1664.

    Article  PubMed  Google Scholar 

  90. McPartland, J., Dawson, G., Webb, S. J., Panagiotides, H., & Carver, L. J. (2004). Event-related brain potentials reveal anomalies in temporal processing of faces in autism spectrum disorder. Journal of Child Psychology and Psychiatry, 45(7), 1235–1245.

    Article  PubMed  Google Scholar 

  91. Pierce, K., Haist, F., Sedaghat, F., & Courchesne, E. (2004). The brain response to personally familiar faces in autism: Findings of fusiform activity and beyond. Brain, 127(Pt), 12.

    Google Scholar 

  92. Piggot, J., Kwon, H., Mobbs, D., Blasey, C., Lotspeich, L., Menon, V., et al. (2004). Emotional attribution in high-functioning individuals with autistic spectrum disorder: A functional imaging study. Journal of the American Academy of Child and Adolescent Psychiatry, 43(4), 473–480.

    Article  PubMed  Google Scholar 

  93. Teder-Sälejärvi, W. A., Pierce, K. L., Courchesne, E., & Hillyard, S. A. (2005). Auditory spatial localization and attention deficits in autistic adults. Brain Research. Cognitive Brain Research, 23(2-3), 221–234.

    Article  PubMed  Google Scholar 

  94. Wang, A. T., Dapretto, M., Hariri, A. R., Sigman, M., & Bookheimer, S. Y. (2004). Neural correlates of facial affect processing in children and adolescents with autism spectrum disorder. Journal of the American Academy of Child and Adolescent Psychiatry, 43(4), 481–490.

    Article  PubMed  Google Scholar 

  95. Williams, J. H. G., Waiter, G. D., Gilchrist, A., Perrett, D. I., Murray, A. D., & Whiten, A. (2005). Neural mechanisms of imitation and ‘mirror neuron’ functioning in autistic spectrum disorder. Neuropsychologia, 44(4), 610–621.

    Article  PubMed  Google Scholar 

  96. Bölte, S., Girdler, S., & Marschik, P. B. (2018). The contribution of environmental exposure to the etiology of autism spectrum disorder. Cellular and Molecular Life Sciences, 76(7), 1275–1297.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  97. Reichenberg, A., Gross, R., Weiser, M., Bresnahan, M., Silverman, J., Harlap, S., et al. (2006). Advancing paternal age and autism. Archives of General Psychiatry, 63(9), 1026–1032.

    Article  PubMed  Google Scholar 

  98. Croen, L. A., Najjar, D. V., Fireman, B., & Grether, J. K. (2007). Maternal and paternal age and risk of autism spectrum disorders. Archives of Pediatrics & Adolescent Medicine, 161(4), 334–340.

    Article  Google Scholar 

  99. Durkin, M. S., Maenner, M. J., Newschaffer, C. J., Lee, L.-C., Cunniff, C. M., Daniels, J. L., et al. (2008). Advanced parental age and the risk of autism spectrum disorder. American Journal of Epidemiology, 168(11), 1268–1276.

    Article  PubMed  PubMed Central  Google Scholar 

  100. Gardener, H., Spiegelman, D., & Buka, S. L. (2009). Prenatal risk factors for autism: Comprehensive meta-analysis. The British Journal of Psychiatry, 195(1), 7–14.

    Article  PubMed  PubMed Central  Google Scholar 

  101. Grether, J. K., Anderson, M. C., Croen, L. A., Smith, D., & Windham, G. C. (2009). Risk of autism and increasing maternal and paternal age in a large north American population. American Journal of Epidemiology, 170(9), 1118–1126.

    Article  PubMed  Google Scholar 

  102. Gabis, L., Raz, R., & Kesner-Baruch, Y. (2010). Paternal age in autism spectrum disorders and ADHD. Pediatric Neurology, 43(4), 300–302.

    Article  PubMed  Google Scholar 

  103. Sandin, S., Hultman, C. M., Kolevzon, A., Gross, R., MacCabe, J. H., & Reichenberg, A. (2012). Advancing maternal age is associated with increasing risk for autism: A review and meta-analysis. Journal of the American Academy of Child and Adolescent Psychiatry, 51(5), 477–4861.

    Article  PubMed  Google Scholar 

  104. Kong, A., Frigge, M. L., Masson, G., Besenbacher, S., Sulem, P., Magnusson, G., et al. (2012). Rate of de novo mutations and the importance of father’s age to disease risk. Nature, 488(7412), 471–475.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  105. Atsem, S., Reichenbach, J., Potabattula, R., Dittrich, M., Nava, C., Depienne, C., et al. (2016). Paternal age effects on sperm FOXK1 and KCNA7 methylation and transmission into the next generation. Human Molecular Genetics, 25(22), 4996–5005.

    CAS  PubMed  PubMed Central  Google Scholar 

  106. Atladóttir, H. O., Thorsen, P., Østergaard, L., Schendel, D. E., Lemcke, S., Abdallah, M., et al. (2010). Maternal infection requiring hospitalization during pregnancy and autism spectrum disorders. Journal of Autism and Developmental Disorders, 40(12), 1423–1430.

    Article  PubMed  Google Scholar 

  107. Atladóttir, H. Ó., Henriksen, T. B., Schendel, D. E., & Parner, E. T. (2012). Autism after infection, febrile episodes, and antibiotic use during pregnancy: An exploratory study. Pediatrics, 130(6), 1447–1454.

    Article  Google Scholar 

  108. Abdallah, M. W., Larsen, N., Grove, J., Nørgaard-Pedersen, B., Thorsen, P., Mortensen, E. L., et al. (2013). Amniotic fluid inflammatory cytokines: Potential markers of immunologic dysfunction in autism spectrum disorders. The World Journal of Biological Psychiatry, 14(7), 528–538.

    Article  PubMed  Google Scholar 

  109. Brimberg, L., Sadiq, A., Gregersen, P. K., & Diamond, B. (2013). Brain-reactive IgG correlates with autoimmunity in mothers of a child with an autism spectrum disorder. Molecular Psychiatry, 18(11), 1171–1177.

    Article  CAS  PubMed  Google Scholar 

  110. Baron-Cohen, S., Auyeung, B., Nørgaard-Pedersen, B., Hougaard, D. M., Abdallah, M. W., Melgaard, L., et al. (2015). Elevated fetal steroidogenic activity in autism. Molecular Psychiatry, 20(3), 369–376.

    Article  CAS  PubMed  Google Scholar 

  111. Gardner, R. M., Lee, B. K., Magnusson, C., Rai, D., Frisell, T., Karlsson, H., et al. (2015). Maternal body mass index during early pregnancy, gestational weight gain, and risk of autism spectrum disorders: Results from a Swedish total population and discordant sibling study. International Journal of Epidemiology, 44(3), 870–883.

    Article  PubMed  PubMed Central  Google Scholar 

  112. Lee, B. K., Magnusson, C., Gardner, R. M., Blomström, Å., Newschaffer, C. J., Burstyn, I., et al. (2015). Maternal hospitalization with infection during pregnancy and risk of autism spectrum disorders. Brain, Behavior, and Immunity, 44, 100–105.

    Article  PubMed  Google Scholar 

  113. Rivera, H. M., Christiansen, K. J., & Sullivan, E. L. (2015). The role of maternal obesity in the risk of neuropsychiatric disorders. Frontiers in Neuroscience, 9, 194.

    Article  PubMed  PubMed Central  Google Scholar 

  114. Xiang, A. H., Wang, X., Martinez, M. P., Walthall, J. C., Curry, E. S., Page, K., et al. (2015). Association of maternal diabetes with autism in offspring. JAMA, 313(14), 1425–1434.

    Article  CAS  PubMed  Google Scholar 

  115. Li, M., Fallin, M. D., Riley, A., Landa, R., Walker, S. O., Silverstein, M., et al. (2016). The association of maternal obesity and diabetes with autism and other developmental disabilities. Pediatrics, 137(2), e20152206.

    Article  PubMed  PubMed Central  Google Scholar 

  116. Meltzer, A., & Van de Water, J. (2017). The role of the immune system in autism spectrum disorder. Neuropsychopharmacology, 42(1), 284–298.

    Article  CAS  PubMed  Google Scholar 

  117. Carpita, B., Muti, D., & Dell’Osso, L. (2018). Oxidative stress, maternal diabetes, and autism spectrum disorders. Oxidative Medicine and Cellular Longevity, 2018, 3717215.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  118. Maeyama, K., Tomioka, K., Nagase, H., Yoshioka, M., Takagi, Y., Kato, T., et al. (2018). Congenital cytomegalovirus infection in children with autism spectrum disorder: Systematic review and meta-analysis. Journal of Autism and Developmental Disorders, 48(5), 1483–1491.

    Article  PubMed  Google Scholar 

  119. Maher, G. M., O’Keeffe, G. W., Kearney, P. M., Kenny, L. C., Dinan, T. G., Mattsson, M., et al. (2018). Association of hypertensive disorders of pregnancy with risk of neurodevelopmental disorders in offspring: A systematic review and meta-analysis. JAMA Psychiatry, 75(8), 809–819.

    Article  PubMed  PubMed Central  Google Scholar 

  120. Vianna, P., Gomes, J. d. A., Boquett, J. A., Fraga, L. R., Schuch, J. B., Vianna, F. S. L., et al. (2019). Zika Virus as a possible risk factor for autism spectrum disorder: Neuroimmunological aspects. Neuroimmunomodulation, 25(5–6), 320–327. https://doi.org/10.1159/000495660. Epub 2019 Jan 10.

  121. Bolton, P. F., Murphy, M., Macdonald, H., Whitlock, B., Pickles, A., & Rutter, M. (1997). Obstetric complications in autism: Consequences or causes of the condition? Journal of the American Academy of Child and Adolescent Psychiatry, 36(2), 272–281.

    Article  CAS  PubMed  Google Scholar 

  122. Gardener, H., Spiegelman, D., & Buka, S. L. (2011). Perinatal and neonatal risk factors for autism: A comprehensive meta-analysis. Pediatrics, 128(2), 344–355.

    Article  PubMed  PubMed Central  Google Scholar 

  123. Wang, C., Geng, H., Liu, W., & Zhang, G. (2017). Prenatal, perinatal, and postnatal factors associated with autism: A meta-analysis. Medicine (Baltimore), 96(18), e6696.

    Article  CAS  Google Scholar 

  124. Veroniki, A. A., Rios, P., Cogo, E., Straus, S. E., Finkelstein, Y., Kealey, R., et al. (2017). Comparative safety of antiepileptic drugs for neurological development in children exposed during pregnancy and breast feeding: A systematic review and network meta-analysis. BMJ Open, 7(7), e017248.

    Article  PubMed  PubMed Central  Google Scholar 

  125. Brown, H. K., Hussain-Shamsy, N., Lunsky, Y., Dennis, C.-L. E., & Vigod, S. N. (2017). The association between antenatal exposure to selective serotonin reuptake inhibitors and autism: A systematic review and meta-analysis. The Journal of Clinical Psychiatry, 78(1), 48–58.

    Article  Google Scholar 

  126. Mezzacappa, A., Lasica, P.-A., Gianfagna, F., Cazas, O., Hardy, P., Falissard, B., et al. (2017). Risk for autism spectrum disorders according to period of prenatal antidepressant exposure: A systematic review and meta-analysis. JAMA Pediatrics, 171(6), 555–563.

    Article  PubMed  Google Scholar 

  127. Huizink, A. C., & Mulder, E. J. H. (2005). Maternal smoking, drinking or cannabis use during pregnancy and neurobehavioral and cognitive functioning in human offspring. Neuroscience and Biobehavioral Reviews, 30(1), 24–41.

    Article  CAS  PubMed  Google Scholar 

  128. Kalkbrenner, A. E., Braun, J. M., Durkin, M. S., Maenner, M. J., Cunniff, C., Lee, L.-C., et al. (2012). Maternal smoking during pregnancy and the prevalence of autism spectrum disorders, using data from the autism and developmental disabilities monitoring network. Environmental Health Perspectives, 120(7), 1042–1048.

    Article  PubMed  PubMed Central  Google Scholar 

  129. Tran, P. L., Lehti, V., Lampi, K. M., Helenius, H., Suominen, A., Gissler, M., et al. (2013). Smoking during pregnancy and risk of autism spectrum disorder in a Finnish National Birth Cohort. Paediatric and Perinatal Epidemiology, 27(3), 266–274.

    Article  PubMed  PubMed Central  Google Scholar 

  130. Rosen, B. N., Lee, B. K., Lee, N. L., Yang, Y., & Burstyn, I. (2015). Maternal smoking and autism spectrum disorder: A meta-analysis. Journal of Autism and Developmental Disorders, 45(6), 1689–1698.

    Article  PubMed  Google Scholar 

  131. Tang, S., Wang, Y., Gong, X., & Wang, G. (2015). A meta-analysis of maternal smoking during pregnancy and autism spectrum disorder risk in offspring. International Journal of Environmental Research and Public Health, 12(9), 10418–10431.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  132. Wakefield, A. J., & Montgomery, S. M. (1999). Autism, viral infection and measles-mumps-rubella vaccination. The Israel Medical Association Journal, 1(3), 183–187.

    CAS  PubMed  Google Scholar 

  133. Bernard, S., Enayati, A., Redwood, L., Roger, H., & Binstock, T. (2001). Autism: A novel form of mercury poisoning. Medical Hypotheses, 56(4), 462–471.

    Article  CAS  PubMed  Google Scholar 

  134. Bernard, S., Enayati, A., Roger, H., Binstock, T., & Redwood, L. (2002). The role of mercury in the pathogenesis of autism. Molecular Psychiatry, 7(Suppl), 2.

    Google Scholar 

  135. Geier, M. R., & Geier, D. A. (2003). Neurodevelopmental disorders after thimerosal-containing vaccines: A brief communication. Experimental Biology and Medicine (Maywood, N.J.), 228(6), 660–664.

    Article  CAS  Google Scholar 

  136. McCormick, M. C. (2003). The autism “epidemic”: Impressions from the perspective of immunization safety review. Ambulatory Pediatrics, 3(3), 119–120.

    Article  PubMed  Google Scholar 

  137. Geier, D. A., & Geier, M. R. (2004). Neurodevelopmental disorders following thimerosal-containing childhood immunizations: A follow-up analysis. International Journal of Toxicology, 23(6), 369–376.

    Article  CAS  PubMed  Google Scholar 

  138. Gerber, J. S., & Offit, P. A. (2009). Vaccines and autism: A tale of shifting hypotheses. Clinical Infectious Diseases, 48(4), 456–461.

    Article  PubMed  Google Scholar 

  139. Madsen, K. M., Hviid, A., Vestergaard, M., Schendel, D., Wohlfahrt, J., Thorsen, P., et al. (2002). A population-based study of measles, mumps, and rubella vaccination and autism. The New England Journal of Medicine, 347(19), 1477–1482.

    Article  PubMed  Google Scholar 

  140. Taylor, L. E., Swerdfeger, A. L., & Eslick, G. D. (2014). Vaccines are not associated with autism: An evidence-based meta-analysis of case-control and cohort studies. Vaccine, 32(29), 3623–3629.

    Article  CAS  PubMed  Google Scholar 

  141. Davidson, M. (2017). Vaccination as a cause of autism-myths and controversies. Dialogues in Clinical Neuroscience, 19(4), 403–407.

    PubMed  PubMed Central  Google Scholar 

  142. Zerbo, O., Modaressi, S., Goddard, K., Lewis, E., Fireman, B. H., Daley, M. F., et al. (2018). Vaccination patterns in children after autism spectrum disorder diagnosis and in their younger siblings. JAMA Pediatrics, 172(5), 469–475.

    Article  PubMed  PubMed Central  Google Scholar 

  143. Kozuki, N., & Walker, N. (2013). Exploring the association between short/long preceding birth intervals and child mortality: Using reference birth interval children of the same mother as comparison. BMC Public Health, 13(Suppl), 3.

    Article  Google Scholar 

  144. Cheslack Postava, K., & Winter, A. S. (2015). Short and long interpregnancy intervals: Correlates and variations by pregnancy timing among U.S. women. Perspectives on Sexual and Reproductive Health, 47(1), 19–26.

    Article  PubMed  Google Scholar 

  145. Magnusson, C., Lundberg, M., Lee, B. K., Rai, D., Karlsson, H., Gardner, R., et al. (2016). Maternal vitamin D deficiency and the risk of autism spectrum disorders: Population-based study. BJPsych Open, 2(2), 170–172.

    Article  PubMed  PubMed Central  Google Scholar 

  146. Mazahery, H., Camargo, C. A., Conlon, C., Beck, K. L., Kruger, M. C., & von Hurst, P. R. (2016). Vitamin D and autism spectrum disorder: A literature review. Nutrients, 8(4), 236.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  147. Demarquoy, C., & Demarquoy, J. (2019). Autism and carnitine: A possible link. World Journal of Biological Chemistry, 10(1), 7–16.

    Article  PubMed  PubMed Central  Google Scholar 

  148. Schmidt, R. J., Tancredi, D. J., Krakowiak, P., Hansen, R. L., & Ozonoff, S. (2014). Maternal intake of supplemental iron and risk of autism spectrum disorder. American Journal of Epidemiology, 180(9), 890–900.

    Article  PubMed  PubMed Central  Google Scholar 

  149. Chowanadisai, W., Graham, D. M., Keen, C. L., Rucker, R. B., & Messerli, M. A. (2013). Neurulation and neurite extension require the zinc transporter ZIP12 (slc39a12). PNAS, 110(24), 9903–9908.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  150. Curtin, P., Austin, C., Curtin, A., Gennings, C., Arora, M., Tammimies, K., et al. (2018). Dynamical features in fetal and postnatal zinc-copper metabolic cycles predict the emergence of autism spectrum disorder. Science Advances, 4(5), eaat1293.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  151. Velie, E. M., Block, G., Shaw, G. M., Samuels, S. J., Schaffer, D. M., & Kulldorff, M. (1999). Maternal supplemental and dietary zinc intake and the occurrence of neural tube defects in California. American Journal of Epidemiology, 150(6), 605–616.

    Article  CAS  PubMed  Google Scholar 

  152. Yasuda, H., Yoshida, K., Yasuda, Y., & Tsutsui, T. (2011). Infantile zinc deficiency: Association with autism spectrum disorders. Scientific Reports, 1, 129.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  153. Lam, J., Sutton, P., Kalkbrenner, A., Windham, G., Halladay, A., Koustas, E., et al. (2016). A systematic review and meta-analysis of multiple airborne pollutants and autism spectrum disorder. PLoS One, 11(9), e0161851.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  154. Saghazadeh, A., & Rezaei, N. (2017). Systematic review and meta-analysis links autism and toxic metals and highlights the impact of country development status: Higher blood and erythrocyte levels for mercury and lead, and higher hair antimony, cadmium, lead, and mercury. Progress in Neuro-Psychopharmacology and Biological Psychiatry, 79(Pt B), 340–368.

    Article  CAS  PubMed  Google Scholar 

  155. Kalkbrenner, A. E., Schmidt, R. J., & Penlesky, A. C. (2014). Environmental chemical exposures and autism spectrum disorders: A review of the epidemiological evidence. Current Problems in Pediatric and Adolescent Health Care, 44(10), 277–318.

    Article  PubMed  PubMed Central  Google Scholar 

  156. Shelton, J. F., Geraghty, E. M., Tancredi, D. J., Delwiche, L. D., Schmidt, R. J., Ritz, B., et al. (2014). Neurodevelopmental disorders and prenatal residential proximity to agricultural pesticides: The CHARGE study. Environmental Health Perspectives, 122(10), 1103–1109.

    Article  PubMed  PubMed Central  Google Scholar 

  157. Jeddi, M. Z., Janani, L., Memari, A. H., Akhondzadeh, S., & Yunesian, M. (2016). The role of phthalate esters in autism development: A systematic review. Environmental Research, 151, 493–504.

    Article  CAS  PubMed  Google Scholar 

  158. Kardas, F., Bayram, A. K., Demirci, E., Akin, L., Ozmen, S., Kendirci, M., et al. (2016). Increased serum phthalates (MEHP, DEHP) and bisphenol a concentrations in children with autism spectrum disorder: The role of endocrine disruptors in autism etiopathogenesis. Journal of Child Neurology, 31(5), 629–635.

    Article  PubMed  Google Scholar 

  159. Kondolot, M., Ozmert, E. N., Ascı, A., Erkekoglu, P., Oztop, D. B., Gumus, H., et al. (2016). Plasma phthalate and bisphenol a levels and oxidant-antioxidant status in autistic children. Environmental Toxicology and Pharmacology, 43, 149–158.

    Article  CAS  PubMed  Google Scholar 

  160. Rahbar, M. H., Swingle, H. M., Christian, M. A., Hessabi, M., Lee, M., Pitcher, M. R., et al. (2017). Environmental exposure to dioxins, dibenzofurans, bisphenol A, and phthalates in children with and without autism spectrum disorder living near the gulf of Mexico. International Journal of Environmental Research and Public Health, 14, 11.

    Article  CAS  Google Scholar 

  161. Stein, T. P., Schluter, M. D., Steer, R. A., Guo, L., & Ming, X. (2015). Bisphenol A exposure in children with autism spectrum disorders. Autism Research, 8(3), 272–283.

    Article  PubMed  PubMed Central  Google Scholar 

  162. Ye, B. S., Leung, A. O. W., & Wong, M. H. (2017). The association of environmental toxicants and autism spectrum disorders in children. Environmental Pollution, 227, 234–242.

    Article  CAS  PubMed  Google Scholar 

  163. Ribas-Fitó, N., Torrent, M., Carrizo, D., Muñoz-Ortiz, L., Júlvez, J., Grimalt, J. O., et al. (2006). In utero exposure to background concentrations of DDT and cognitive functioning among preschoolers. American Journal of Epidemiology, 164(10), 955–962.

    Article  PubMed  Google Scholar 

  164. Shutoh, Y., Takeda, M., Ohtsuka, R., Haishima, A., Yamaguchi, S., Fujie, H., et al. (2009). Low dose effects of dichlorodiphenyltrichloroethane (DDT) on gene transcription and DNA methylation in the hypothalamus of young male rats: Implication of hormesis-like effects. The Journal of Toxicological Sciences, 34(5), 469–482.

    Article  CAS  PubMed  Google Scholar 

  165. Herbstman, J. B., Sjödin, A., Kurzon, M., Lederman, S. A., Jones, R. S., Rauh, V., et al. (2010). Prenatal exposure to PBDEs and neurodevelopment. Environmental Health Perspectives, 118(5), 712–719.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  166. Hertz-Picciotto, I., Bergman, A., Fängström, B., Rose, M., Krakowiak, P., Pessah, I., et al. (2011). Polybrominated diphenyl ethers in relation to autism and developmental delay: A case-control study. Environmental Health, 10(1), 1.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  167. Rai, D., Lewis, G., Lundberg, M., Araya, R., Svensson, A., Dalman, C., et al. (2012). Parental socioeconomic status and risk of offspring autism spectrum disorders in a Swedish population-based study. Journal of the American Academy of Child and Adolescent Psychiatry, 51(5), 467–4766.

    Article  PubMed  Google Scholar 

  168. Bhasin, T. K., & Schendel, D. (2007). Sociodemographic risk factors for autism in a US metropolitan area. Journal of Autism and Developmental Disorders, 37(4), 667–677.

    Article  PubMed  Google Scholar 

  169. Durkin, M. S., Maenner, M. J., Meaney, F. J., Levy, S. E., DiGuiseppi, C., Nicholas, J. S., et al. (2010). Socioeconomic inequality in the prevalence of autism spectrum disorder: Evidence from a U.S. cross-sectional study. PLoS One, 5(7), e11551.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  170. Boyle, C. A., Boulet, S., Schieve, L. A., Cohen, R. A., Blumberg, S. J., Yeargin-Allsopp, M., et al. (2011). Trends in the prevalence of developmental disabilities in US children, 1997–2008. Pediatrics, 127(6), 1034–1042.

    Article  PubMed  Google Scholar 

  171. Fujiwara, T. (2014). Socioeconomic status and the risk of suspected autism spectrum disorders among 18-month-old toddlers in Japan: A population-based study. Journal of Autism and Developmental Disorders, 44(6), 1323–1331.

    Article  PubMed  Google Scholar 

  172. Delobel-Ayoub, M., Ehlinger, V., Klapouszczak, D., Maffre, T., Raynaud, J.-P., Delpierre, C., et al. (2015). Socioeconomic disparities and prevalence of autism spectrum disorders and intellectual disability. PLoS One, 10(11), e0141964.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  173. Larsson, H. J., Eaton, W. W., Madsen, K. M., Vestergaard, M., Olesen, A. V., Agerbo, E., et al. (2005). Risk factors for autism: Perinatal factors, parental psychiatric history, and socioeconomic status. American Journal of Epidemiology, 161(10), 916–925.

    Article  PubMed  Google Scholar 

  174. Sun, X., Allison, C., Auyeung, B., Baron-Cohen, S., & Brayne, C. (2014). Parental concerns, socioeconomic status, and the risk of autism spectrum conditions in a population-based study. Research in Developmental Disabilities, 35(12), 3678–3688.

    Article  PubMed  Google Scholar 

  175. He, P., Guo, C., Wang, Z., Chen, G., Li, N., & Zheng, X. (2018). Socioeconomic status and childhood autism: A population-based study in China. Psychiatry Research, 259, 27–31.

    Article  PubMed  Google Scholar 

  176. Hsiao, E. Y., McBride, S. W., Hsien, S., Sharon, G., Hyde, E. R., McCue, T., et al. (2013). Microbiota modulate behavioral and physiological abnormalities associated with neurodevelopmental disorders. Cell, 155(7), 1451–1463.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  177. Coretti, L., Cristiano, C., Florio, E., Scala, G., Lama, A., Keller, S., et al. (2017). Sex-related alterations of gut microbiota composition in the BTBR mouse model of autism spectrum disorder. Scientific Reports, 7. https://doi.org/10.1038/srep45356

  178. de Magistris, L., Familiari, V., Pascotto, A., Sapone, A., Frolli, A., Iardino, P., et al. (2010). Alterations of the intestinal barrier in patients with autism spectrum disorders and in their first-degree relatives. Journal of Pediatric Gastroenterology and Nutrition, 51(4), 418–424.

    Article  PubMed  Google Scholar 

  179. Coretti, L., Paparo, L., Riccio, M. P., Amato, F., Cuomo, M., Natale, A., et al. (2018). Gut microbiota features in young children with autism spectrum disorders. Frontiers in Microbiology, 9, 3146.

    Article  PubMed  PubMed Central  Google Scholar 

  180. Zhang, M., Ma, W., Zhang, J., He, Y., & Wang, J. (2018). Analysis of gut microbiota profiles and microbe-disease associations in children with autism spectrum disorders in China. Scientific Reports, 8(1), 13981.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  181. Wang, M., Zhou, J., He, F., Cai, C., Wang, H., Wang, Y., et al. (2019). Alteration of gut microbiota-associated epitopes in children with autism spectrum disorders. Brain, Behavior, and Immunity, 75, 192–199.

    Article  PubMed  Google Scholar 

  182. Johnson, C. P., & Myers, S. M. (2007). Identification and evaluation of children with autism spectrum disorders. Pediatrics, 120(5), 1183–1215.

    Article  PubMed  Google Scholar 

  183. Mazina, V., Gerdts, J., Trinh, S., Ankenman, K., Ward, T., Dennis, M. Y., et al. (2015). Epigenetics of autism-related impairment: Copy number variation and maternal infection. Journal of Developmental and Behavioral Pediatrics, 36(2), 61–67.

    Article  PubMed  PubMed Central  Google Scholar 

  184. Agrawal, S., Rao, S. C., Bulsara, M. K., & Patole, S. K. (2018). Prevalence of autism spectrum disorder in preterm infants: A meta-analysis. Pediatrics, 142, 3.

    Article  Google Scholar 

  185. Dachew, B. A., Mamun, A., Maravilla, J. C., & Alati, R. (2018). Pre-eclampsia and the risk of autism-spectrum disorder in offspring: Meta-analysis. The British Journal of Psychiatry, 212(3), 142–147.

    Article  PubMed  Google Scholar 

  186. Hisle-Gorman, E., Susi, A., Stokes, T., Gorman, G., Erdie-Lalena, C., & Nylund, C. M. (2018). Prenatal, perinatal, and neonatal risk factors of autism spectrum disorder. Pediatric Research, 84(2), 190–198.

    Article  PubMed  Google Scholar 

  187. Krakowiak, P., Walker, C. K., Bremer, A. A., Baker, A. S., Ozonoff, S., Hansen, R. L., et al. (2012). Maternal metabolic conditions and risk for autism and other neurodevelopmental disorders. Pediatrics, 129(5), 1121–1128.

    Article  Google Scholar 

  188. Xiang, A. H. (2017). Association of maternal diabetes with autism in offspring. JAMA, 317(5), 537–538.

    Article  PubMed  Google Scholar 

  189. Xiang, A. H., Wang, X., Martinez, M. P., Page, K., Buchanan, T. A., & Feldman, R. K. (2018). Maternal type 1 diabetes and risk of autism in offspring. JAMA, 320(1), 89–91.

    Article  PubMed  PubMed Central  Google Scholar 

  190. Dumont-Mathieu, T., & Fein, D. (2005). Screening for autism in young children: The modified checklist for autism in toddlers (M-CHAT) and other measures. Mental Retardation and Developmental Disabilities Research Reviews, 11(3), 253–262.

    Article  PubMed  Google Scholar 

  191. Pandey, J., Verbalis, A., Robins, D. L., Boorstein, H., Klin, A. M. I., Babitz, T., et al. (2008). Screening for autism in older and younger toddlers with the modified checklist for autism in toddlers. Autism, 12(5), 513–535.

    Article  PubMed  Google Scholar 

  192. Chlebowski, C., Robins, D. L., Barton, M. L., & Fein, D. (2013). Large-scale use of the modified checklist for autism in low-risk toddlers. Pediatrics, 131(4), 1121–1127.

    Article  Google Scholar 

  193. Robins, D. L., Casagrande, K., Barton, M., Chen, C.-M. A., Dumont-Mathieu, T., & Fein, D. (2014). Validation of the modified checklist for Autism in toddlers, revised with follow-up (M-CHAT-R/F). Pediatrics, 133(1), 37–45.

    Article  PubMed  PubMed Central  Google Scholar 

  194. Toh, T.-H., Tan, V. W.-Y., Lau, P. S.-T., & Kiyu, A. (2018). Accuracy of modified checklist for autism in toddlers (M-CHAT) in detecting autism and other developmental disorders in community clinics. Journal of Autism and Developmental Disorders, 48(1), 28–35.

    Article  PubMed  Google Scholar 

  195. Dietz, C., Swinkels, S., van Daalen, E., van Engeland, H., & Buitelaar, J. K. (2006). Screening for autistic spectrum disorder in children aged 14–15 months. II: Population screening with the Early Screening of Autistic Traits Questionnaire (ESAT). Design and general findings. Journal of Autism and Developmental Disorders, 36(6), 713–722.

    Article  PubMed  Google Scholar 

  196. Swinkels, S. H. N., Dietz, C., van Daalen, E., Kerkhof, I. H. G. M., van Engeland, H., & Buitelaar, J. K. (2006). Screening for autistic spectrum in children aged 14 to 15 months. I: The development of the early screening of autistic traits questionnaire (ESAT). Journal of Autism and Developmental Disorders, 36(6), 723–732.

    Article  PubMed  Google Scholar 

  197. García-Primo, P., Hellendoorn, A., Charman, T., Roeyers, H., Dereu, M., Roge, B., et al. (2014). Screening for autism spectrum disorders: State of the art in Europe. European Child & Adolescent Psychiatry, 23(11), 1005–1021.

    Article  Google Scholar 

  198. Stone, W. L., Coonrod, E. E., & Ousley, O. Y. (2000). Brief report: Screening tool for autism in two-year-olds (STAT): Development and preliminary data. Journal of Autism and Developmental Disorders, 30(6), 607–612.

    Article  CAS  PubMed  Google Scholar 

  199. Stone, W. L., Coonrod, E. E., Turner, L. M., & Pozdol, S. L. (2004). Psychometric properties of the STAT for early autism screening. Journal of Autism and Developmental Disorders, 34(6), 691–701.

    Article  PubMed  Google Scholar 

  200. Stone, W. L., McMahon, C. R., & Henderson, L. M. (2008). Use of the screening tool for autism in two-year-olds (STAT) for children under 24 months: An exploratory study. Autism, 12(5), 557–573.

    Article  PubMed  Google Scholar 

  201. Warren, Z., Stone, W., & Humberd, Q. (2009). A training model for the diagnosis of autism in community pediatric practice. Journal of Developmental and Behavioral Pediatrics, 30(5), 442–446.

    Article  PubMed  Google Scholar 

  202. Wetherby, A. M., Brosnan-Maddox, S., Peace, V., & Newton, L. (2008). Validation of the Infant-Toddler Checklist as a broadband screener for autism spectrum disorders from 9 to 24 months of age. Autism, 12(5), 487–511.

    Article  PubMed  PubMed Central  Google Scholar 

  203. Pierce, K., Carter, C., Weinfeld, M., Desmond, J., Hazin, R., Bjork, R., et al. (2011). Detecting, studying, and treating autism early: The one-year well-baby check-up approach. The Journal of Pediatrics, 159(3), 458–4651.

    Article  PubMed  PubMed Central  Google Scholar 

  204. Smith, N. J., Sheldrick, R. C., & Perrin, E. C. (2013). An abbreviated screening instrument for autism spectrum disorders. Infant Mental Health Journal, 34(2), 149–155.

    Article  Google Scholar 

  205. Floatinghospital. (2019). Parts of the SWYC - POSI at Tufts Medical Center.

    Google Scholar 

  206. Berument, S. K., Rutter, M., Lord, C., Pickles, A., & Bailey, A. (1999). Autism screening questionnaire: Diagnostic validity. The British Journal of Psychiatry, 175, 444–451. Research.

    Article  CAS  PubMed  Google Scholar 

  207. Eaves, L. C., Wingert, H. D., Ho, H. H., & Mickelson, E. C. R. (2006a). Screening for autism spectrum disorders with the social communication questionnaire. Journal of Developmental and Behavioral Pediatrics, 27(2), S95–S103.

    Article  PubMed  Google Scholar 

  208. Eaves, L. C., Wingert, H., & Ho, H. H. (2006b). Screening for autism: Agreement with diagnosis. Autism, 10(3), 229–242.

    Article  PubMed  Google Scholar 

  209. Charman, T., Baird, G., Simonoff, E., Chandler, S., Davison-Jenkins, A., Sharma, A., et al. (2016). Testing two screening instruments for autism spectrum disorder in UK community child health services. Developmental Medicine and Child Neurology, 58(4), 369–375.

    Article  PubMed  Google Scholar 

  210. Marvin, A. R., Marvin, D. J., Lipkin, P. H., & Law, J. K. (2017). Analysis of social communication questionnaire (SCQ) screening for children less than age 4. Current Developmental Disorders Reports, 4(4), 137.

    Article  PubMed  PubMed Central  Google Scholar 

  211. Aldosari, M., Fombonne, E., Aldhalaan, H., Ouda, M., Elhag, S., Alshammari, H., et al. (2019). Validation of the Arabic version of the social communication questionnaire. Autism. 1362361318816065.

    Google Scholar 

  212. Scott, F. J., Baron-Cohen, S., Bolton, P., & Brayne, C. (2002). The CAST (Childhood Asperger Syndrome Test): Preliminary development of a UK screen for mainstream primary-school-age children. Autism, 6(1), 9–31.

    Article  PubMed  Google Scholar 

  213. Allison, C., Williams, J., Scott, F., Stott, C., Bolton, P., Baron-Cohen, S., et al. (2007). The childhood Asperger syndrome test (CAST): Test-retest reliability in a high scoring sample. Autism, 11(2), 173–185.

    Article  PubMed  Google Scholar 

  214. Williams, E., Thomas, K., Sidebotham, H., & Emond, A. (2008b). Prevalence and characteristics of autistic spectrum disorders in the ALSPAC cohort. Developmental Medicine and Child Neurology, 50(9), 672–677.

    Article  PubMed  Google Scholar 

  215. Ehlers, S., Gillberg, C., & Wing, L. (1999). A screening questionnaire for Asperger syndrome and other high-functioning autism spectrum disorders in school age children. Journal of Autism and Developmental Disorders, 29(2), 129–141.

    Article  CAS  PubMed  Google Scholar 

  216. Posserud, M.-B., Lundervold, A. J., & Gillberg, C. (2009). Validation of the autism spectrum screening questionnaire in a total population sample. Journal of Autism and Developmental Disorders, 39(1), 126–134.

    Article  PubMed  Google Scholar 

  217. Baron-Cohen, S., Wheelwright, S., Skinner, R., Martin, J., & Clubley, E. (2001). The autism-spectrum quotient (AQ): Evidence from Asperger syndrome/high-functioning autism, males and females, scientists and mathematicians. Journal of Autism and Developmental Disorders, 31(1), 5–17.

    Article  CAS  PubMed  Google Scholar 

  218. Voracek, M., & Dressler, S. G. (2006). Lack of correlation between digit ratio (2D:4D) and Baron-Cohen’s “Reading the Mind in the Eyes” test, empathy, systemising, and autism-spectrum quotients in a general population sample. Personality and Individual Differences, 41(8), 1481–1491.

    Article  Google Scholar 

  219. Wakabayashi, A., Baron-Cohen, S., Wheelwright, S., & Tojo, Y. (2006). The autism-spectrum quotient (AQ) in Japan: A cross-cultural comparison. Journal of Autism and Developmental Disorders, 36(2), 263–270.

    Article  PubMed  Google Scholar 

  220. Brereton, A. V., Tonge, B. J., Mackinnon, A. J., & Einfeld, S. L. (2002). Screening young people for autism with the developmental behavior checklist. Journal of the American Academy of Child and Adolescent Psychiatry, 41(11), 1369–1375.

    Article  PubMed  Google Scholar 

  221. Witwer, A. N., & Lecavalier, L. (2007). Autism screening tools: An evaluation of the social communication questionnaire and the developmental behaviour checklist-autism screening algorithm. Journal of Intellectual & Developmental Disability, 32(3), 179–187.

    Article  Google Scholar 

  222. Gray, K. M., & Tonge, B. J. (2005). Screening for autism in infants and preschool children with developmental delay. The Australian and New Zealand Journal of Psychiatry, 39(5), 378–386.

    Article  PubMed  Google Scholar 

  223. Gray, K. M., Tonge, B. J., Sweeney, D. J., & Einfeld, S. L. (2008). Screening for autism in young children with developmental delay: An evaluation of the developmental behaviour checklist: Early screen. Journal of Autism and Developmental Disorders, 38(6), 1003–1010.

    Article  CAS  PubMed  Google Scholar 

  224. Oosterling, I. J., Swinkels, S. H., van der Gaag, R. J., Visser, J. C., Dietz, C., & Buitelaar, J. K. (2009). Comparative analysis of three screening instruments for autism spectrum disorder in toddlers at high risk. Journal of Autism and Developmental Disorders, 39(6), 897–909.

    Article  PubMed  Google Scholar 

  225. Snow, A. V., & Lecavalier, L. (2008). Sensitivity and specificity of the modified checklist for autism in toddlers and the social communication questionnaire in preschoolers suspected of having pervasive developmental disorders. Autism, 12(6), 627–644.

    Article  PubMed  Google Scholar 

  226. Filipek, P. A., Accardo, P. J., Ashwal, S., Baranek, G. T., Cook, E. H., Dawson, G., et al. (2000). Practice parameter: Screening and diagnosis of autism: Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society. Neurology, 55(4), 468–479.

    Article  CAS  PubMed  Google Scholar 

  227. Penner, M., Anagnostou, E., Andoni, L. Y., & Ungar, W. J. (2018). Systematic review of clinical guidance documents for autism spectrum disorder diagnostic assessment in select regions. Autism, 22(5), 517–527.

    Article  PubMed  Google Scholar 

  228. Falkmer, T., Anderson, K., Falkmer, M., & Horlin, C. (2013). Diagnostic procedures in autism spectrum disorders: A systematic literature review. European Child & Adolescent Psychiatry, 22(6), 329–340.

    Article  Google Scholar 

  229. Randall, M., Egberts, K. J., Samtani, A., Scholten, R. J., Hooft, L., Livingstone, N., et al. (2018). Diagnostic tests for autism spectrum disorder (ASD) in preschool children. Cochrane Database of Systematic Reviews, 7, CD009044.

    Google Scholar 

  230. Vllasaliu, L., Jensen, K., Hoss, S., Landenberger, M., Menze, M., Schütz, M., et al. (2016). Diagnostic instruments for autism spectrum disorder (ASD). Cochrane Database of Systematic Reviews, 1, CD012036.

    Google Scholar 

  231. Lord, C., Rutter, M., & Le Couteur, A. (1994). Autism diagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. Journal of Autism and Developmental Disorders, 24(5), 659–685.

    Article  CAS  PubMed  Google Scholar 

  232. Wing, L., & Gould, J. (1979). Severe impairments of social interaction and associated abnormalities in children: Epidemiology and classification. Journal of Autism and Developmental Disorders, 9(1), 11–29.

    Article  CAS  PubMed  Google Scholar 

  233. Wing, L., Leekam, S. R., Libby, S. J., Gould, J., & Larcombe, M. (2002). The diagnostic interview for social and communication disorders: Background, inter-rater reliability and clinical use. Journal of Child Psychology and Psychiatry, 43(3), 307–325.

    Article  PubMed  Google Scholar 

  234. Chlebowski, C., Green, J. A., Barton, M. L., & Fein, D. (2010). Using the childhood autism rating scale to diagnose autism spectrum disorders. Journal of Autism and Developmental Disorders, 40(7), 787–799.

    Article  PubMed  PubMed Central  Google Scholar 

  235. Vaughan, C. A. (2011). Test review: E. Schopler, M. E. Van Bourgondien, G. J. Wellman, & S. R. Love Childhood Autism Rating Scale (2nd ed.). Los Angeles, CA: Western Psychological Services, 2010. Journal of Psychoeducational Assessment, 29(5), 489–493.

    Article  Google Scholar 

  236. Skuse, D., Warrington, R., Bishop, D., Chowdhury, U., Lau, J., Mandy, W., et al. (2004). The developmental, dimensional and diagnostic interview (3di): A novel computerized assessment for autism spectrum disorders. Journal of the American Academy of Child and Adolescent Psychiatry, 43(5), 548–558.

    Article  PubMed  Google Scholar 

  237. Lord, C., Rutter, M., Goode, S., Heemsbergen, J., Jordan, H., Mawhood, L., et al. (1989). Autism diagnostic observation schedule: A standardized observation of communicative and social behavior. Journal of Autism and Developmental Disorders, 19(2), 185–212.

    Article  CAS  PubMed  Google Scholar 

  238. Lord, C., Risi, S., Lambrecht, L., Cook, E. H., Leventhal, B. L., DiLavore, P. C., et al. (2000). The autism diagnostic observation schedule-generic: A standard measure of social and communication deficits associated with the spectrum of autism. Journal of Autism and Developmental Disorders, 30(3), 205–223.

    Article  CAS  PubMed  Google Scholar 

  239. Gotham, K., Risi, S., Pickles, A., & Lord, C. (2007). The autism diagnostic observation schedule: Revised algorithms for improved diagnostic validity. Journal of Autism and Developmental Disorders, 37(4), 613–627.

    Article  PubMed  Google Scholar 

  240. Gotham, K., Risi, S., Dawson, G., Tager-Flusberg, H., Joseph, R., Carter, A., et al. (2008). A replication of the autism diagnostic observation schedule (ADOS) revised algorithms. Journal of the American Academy of Child and Adolescent Psychiatry, 47(6), 642–651.

    Article  PubMed  PubMed Central  Google Scholar 

  241. Gotham, K., Pickles, A., & Lord, C. (2009). Standardizing ADOS scores for a measure of severity in autism spectrum disorders. Journal of Autism and Developmental Disorders, 39(5), 693–705.

    Article  PubMed  Google Scholar 

  242. Lecavalier, L. (2005). An evaluation of the gilliam autism rating scale. Journal of Autism and Developmental Disorders, 35(6), 795–805.

    Article  PubMed  Google Scholar 

  243. Mazefsky, C. A., & Oswald, D. P. (2006). The discriminative ability and diagnostic utility of the ADOS-G, ADI-R, and GARS for children in a clinical setting. Autism, 10(6), 533–549.

    Article  PubMed  Google Scholar 

  244. Montgomery, J. M., Newton, B., & Smith, C. (2008). Test review: Gilliam, J. (2006). GARS-2: Gilliam autism rating scale—Second Edition. Austin, TX: PRO-ED. Journal of Psychoeducational Assessment, 26(4), 395–401.

    Article  Google Scholar 

  245. Pandolfi, V., Magyar, C. I., & Dill, C. A. (2010). Constructs assessed by the GARS-2: Factor analysis of data from the standardization sample. Journal of Autism and Developmental Disorders, 40(9), 1118–1130.

    Article  PubMed  Google Scholar 

  246. Sikora, D. M., Hall, T. A., Hartley, S. L., Gerrard-Morris, A. E., & Cagle, S. (2008). Does parent report of behavior differ across ADOS-G classifications: Analysis of scores from the CBCL and GARS. Journal of Autism and Developmental Disorders, 38(3), 440–448.

    Article  PubMed  Google Scholar 

  247. Stone, W. L., & Hogan, K. L. (1993). A structured parent interview for identifying young children with autism. Journal of Autism and Developmental Disorders, 23(4), 639–652.

    Article  CAS  PubMed  Google Scholar 

  248. Stone, W. L., Coonrod, E. E., Pozdol, S. L., & Turner, L. M. (2003). The parent interview for autism-clinical version (PIA-CV): A measure of behavioral change for young children with autism. Autism, 7(1), 9–30.

    Article  PubMed  Google Scholar 

  249. Ministries of Health and Education. (2016). New Zealand autism spectrum disorder guideline. Ministry of Health.

    Google Scholar 

  250. SIGN. (2016). Assessment, diagnosis and interventions for autism spectrum disorders. SIGN.

    Google Scholar 

  251. Volkmar, F., Siegel, M., Woodbury-Smith, M., King, B., McCracken, J., & State, M. (2014). Practice parameter for the assessment and treatment of children and adolescents with autism spectrum disorder. Journal of the American Academy of Child and Adolescent Psychiatry, 53(2), 237–257.

    Article  PubMed  Google Scholar 

  252. Dover, C. J., & Le Couteur, A. (2007). How to diagnose autism. Archives of Disease in Childhood, 92(6), 540–545.

    Article  PubMed  PubMed Central  Google Scholar 

  253. Klin, A., & Volkmar, F. R. (2003). Asperger syndrome: Diagnosis and external validity. Child and Adolescent Psychiatric Clinics of North America, 12(1), 1–13.

    Article  PubMed  Google Scholar 

  254. Posar, A., Resca, F., & Visconti, P. (2015). Autism according to diagnostic and statistical manual of mental disorders 5th edition: The need for further improvements. Journal of Pediatric Neurosciences, 10(2), 146.

    Article  PubMed  PubMed Central  Google Scholar 

  255. World Health Organization. (1992). The ICD-10 classification of mental and behavioural disorders: Clinical descriptions and diagnostic guidelines. Geneva: World Health Organization.

    Google Scholar 

  256. World Health Organization. (2018). International classification of diseases, 11th revision (ICD-11). World Health Organization.

    Google Scholar 

  257. Leitner, Y. (2014). The co-occurrence of autism and attention deficit hyperactivity disorder in children - what do we know? Frontiers in Human Neuroscience, 8, 268.

    Article  PubMed  PubMed Central  Google Scholar 

  258. Battaglia, A., & Carey, J. C. (2006). Etiologic yield of autistic spectrum disorders: A prospective study. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 142C(1), 3–7.

    Article  PubMed  Google Scholar 

  259. Chakrabarti, S., & Fombonne, E. (2001). Pervasive developmental disorders in preschool children. JAMA, 285(24), 3093–3099.

    Article  CAS  PubMed  Google Scholar 

  260. Chakrabarti, S., & Fombonne, E. (2005). Pervasive developmental disorders in preschool children: Confirmation of high prevalence. The American Journal of Psychiatry, 162(6), 1133–1141.

    Article  PubMed  Google Scholar 

  261. Gillberg, C., & Coleman, M. (1996). Autism and medical disorders: A review of the literature. Developmental Medicine and Child Neurology, 38(3), 191–202.

    Article  CAS  PubMed  Google Scholar 

  262. Rutter, M., Bailey, A., Bolton, P., & Le Couteur, A. (1994). Autism and known medical conditions: Myth and substance. Journal of Child Psychology and Psychiatry, 35(2), 311–322.

    Article  CAS  PubMed  Google Scholar 

  263. Williams, G., King, J., Cunningham, M., Stephan, M., Kerr, B., & Hersh, J. H. (2001). Fetal valproate syndrome and autism: additional evidence of an association. Developmental Medicine and Child Neurology, 43(3), 202–206.

    Article  CAS  PubMed  Google Scholar 

  264. Cohen, D., Pichard, N., Tordjman, S., Baumann, C., Burglen, L., Excoffier, E., et al. (2005). Specific genetic disorders and autism: Clinical contribution towards their identification. Journal of Autism and Developmental Disorders, 35(1), 103–116.

    Article  PubMed  Google Scholar 

  265. Numis, A. L., Major, P., Montenegro, M. A., Muzykewicz, D. A., Pulsifer, M. B., & Thiele, E. A. (2011). Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex. Neurology, 76(11), 981–987.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  266. Richards, C., Jones, C., Groves, L., Moss, J., & Oliver, C. (2015). Prevalence of autism spectrum disorder phenomenology in genetic disorders: A systematic review and meta-analysis. Lancet Psychiatry, 2(10), 909–916.

    Article  PubMed  Google Scholar 

  267. Smalley, S. L. (1998). Autism and tuberous sclerosis. Journal of Autism and Developmental Disorders, 28(5), 407–414.

    Article  CAS  PubMed  Google Scholar 

  268. Wong, V. (2006). Study of the relationship between tuberous sclerosis complex and autistic disorder. Journal of Child Neurology, 21(3), 199–204.

    PubMed  Google Scholar 

  269. Curatolo, P., Cusmai, R., Cortesi, F., Chiron, C., Jambaque, I., & Dulac, O. (1991). Neuropsychiatric aspects of tuberous sclerosis. Annals of the New York Academy of Sciences, 615, 8–16.

    Article  CAS  PubMed  Google Scholar 

  270. Gillberg, I. C., Gillberg, C., & Ahlsén, G. (1994). Autistic behaviour and attention deficits in tuberous sclerosis: A population-based study. Developmental Medicine and Child Neurology, 36(1), 50–56.

    Article  CAS  PubMed  Google Scholar 

  271. Hartley, T., Potter, R., Badalato, L., Smith, A. C., Jarinova, O., & Boycott, K. M. (2017). Fragile X testing as a second-tier test. Genetics in Medicine, 19, 12.

    Article  Google Scholar 

  272. Mullegama, S. V., Klein, S. D., Nguyen, D. C., Kim, A., Signer, R., Fox, M., et al. (2017). Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder? Genetics in Medicine, 19, 12.

    Article  Google Scholar 

  273. Weinstein, V., Tanpaiboon, P., Chapman, K. A., Mew, N. A., & Hofherr, S. (2017). Do the data really support ordering fragile X testing as a first-tier test without clinical features? Genetics Medicine, 19(12), 1317–1322.

    Article  Google Scholar 

  274. Battaglia, A., Parrini, B., & Tancredi, R. (2010). The behavioral phenotype of the idic(15) syndrome. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 154C(4), 448–455.

    Article  PubMed  Google Scholar 

  275. Bolton, P. F., Dennis, N. R., Browne, C. E., Thomas, N. S., Veltman, M. W., Thompson, R. J., et al. (2001). The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders. American Journal of Medical Genetics, 105(8), 675–685.

    Article  CAS  PubMed  Google Scholar 

  276. Baker, P., Piven, J., Schwartz, S., & Patil, S. (1994). Brief report: Duplication of chromosome 15q11-13 in two individuals with autistic disorder. Journal of Autism and Developmental Disorders, 24(4), 529–535.

    Article  CAS  PubMed  Google Scholar 

  277. Cook, E. H., Lindgren, V., Leventhal, B. L., Courchesne, R., Lincoln, A., Shulman, C., et al. (1997). Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. American Journal of Human Genetics, 60(4), 928–934.

    CAS  PubMed  PubMed Central  Google Scholar 

  278. Nurmi, E. L., Dowd, M., Tadevosyan-Leyfer, O., Haines, J. L., Folstein, S. E., & Sutcliffe, J. S. (2003). Exploratory subsetting of autism families based on savant skills improves evidence of genetic linkage to 15q11-q13. Journal of the American Academy of Child and Adolescent Psychiatry, 42(7), 856–863.

    Article  PubMed  Google Scholar 

  279. Wolpert, C. M., Menold, M. M., Bass, M. P., Qumsiyeh, M. B., Donnelly, S. L., Ravan, S. A., et al. (2000). Three probands with autistic disorder and isodicentric chromosome 15. American Journal of Medical Genetics, 96(3), 365–372.

    Article  CAS  PubMed  Google Scholar 

  280. Bukelis, I., Porter, F. D., Zimmerman, A. W., & Tierney, E. (2007). Smith-Lemli-Opitz syndrome and autism spectrum disorder. The American Journal of Psychiatry, 164(11), 1655–1661.

    Article  PubMed  Google Scholar 

  281. Sikora, D. M., Pettit-Kekel, K., Penfield, J., Merkens, L. S., & Steiner, R. D. (2006). The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. American Journal of Medical Genetics. Part A, 140(14), 1511–1518.

    Article  PubMed  Google Scholar 

  282. Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., et al. (2010). Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. American Journal of Human Genetics, 86(5), 749–764.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  283. Sun, F., Oristaglio, J., Levy, S. E., Hakonarson, H., Sullivan, N., Fontanarosa, J., et al. (2015). Genetic testing for developmental disabilities, intellectual disability, and autism spectrum disorder. Rockville, MD: Agency for Healthcare Research and Quality (US).

    Google Scholar 

  284. Beaudet, A. L. (2013). The utility of chromosomal microarray analysis in developmental and behavioral pediatrics. Child Development, 84(1), 121–132.

    Article  PubMed  Google Scholar 

  285. Lord, C., Elsabbagh, M., Baird, G., & Veenstra-Vanderweele, J. (2018). Autism spectrum disorder. Lancet, 392(10146), 508–520.

    Article  PubMed  PubMed Central  Google Scholar 

  286. Rossi, M., El-Khechen, D., Black, M. H., Farwell Hagman, K. D., Tang, S., & Powis, Z. (2017). Outcomes of diagnostic exome sequencing in patients with diagnosed or suspected autism spectrum disorders. Pediatric Neurology, 70, 34–43.

    Article  PubMed  Google Scholar 

  287. Shen, Y., Dies, K. A., Holm, I. A., Bridgemohan, C., Sobeih, M. M., Caronna, E. B., et al. (2010). Clinical genetic testing for patients with autism spectrum disorders. Pediatrics, 125(4), 727–735.

    Article  Google Scholar 

  288. Tammimies, K., Marshall, C. R., Walker, S., Kaur, G., Thiruvahindrapuram, B., Lionel, A. C., et al. (2015). Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder. JAMA, 314(9), 895–903.

    Article  CAS  PubMed  Google Scholar 

  289. Yang, Y., Muzny, D. M., Reid, J. G., Bainbridge, M. N., Willis, A., Ward, P. A., et al. (2013). Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. The New England Journal of Medicine, 369(16), 1502–1511.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  290. Miles, J. H. (2015). Complex autism spectrum disorders and cutting-edge molecular diagnostic tests. JAMA, 314(9), 879–880.

    Article  CAS  PubMed  Google Scholar 

  291. Jang, W., Kim, Y., Han, E., Park, J., Chae, H., Kwon, A., et al. (2019). Chromosomal microarray analysis as a first-tier clinical diagnostic test in patients with developmental delay/intellectual disability, autism spectrum disorders, and multiple congenital anomalies: A prospective multicenter study in Korea. Annals of Laboratory Medicine, 39(3), 299–310.

    Article  PubMed  PubMed Central  Google Scholar 

  292. Duncan, A. M., & Chodirker, B. (2011). Use of array genomic hybridization technology for constitutional genetic diagnosis in Canada. Paediatrics & Child Health, 16(4), 211–212.

    Article  Google Scholar 

  293. Manning, M., & Hudgins, L. (2010). Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genetics in Medicine, 12(11), 742–745.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  294. Martin, C. L., & Ledbetter, D. H. (2017). Chromosomal microarray testing for children with unexplained neurodevelopmental disorders. JAMA, 317(24), 2545–2546.

    Article  PubMed  PubMed Central  Google Scholar 

  295. Mefford, H. C., Batshaw, M. L., & Hoffman, E. P. (2012). Genomics, intellectual disability, and autism. The New England Journal of Medicine, 366(8), 733–743.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  296. Sanmann, J. N., Schaefer, G. B., Buehler, B. A., & Sanger, W. G. (2012). Algorithmic approach for methyl-CpG binding protein 2 (MECP2) gene testing in patients with neurodevelopmental disabilities. Journal of Child Neurology, 27(3), 346–354.

    Article  PubMed  Google Scholar 

  297. Manzi, B., Loizzo, A. L., Giana, G., & Curatolo, P. (2008). Autism and metabolic diseases. Journal of Child Neurology, 23(3), 307–314.

    Article  PubMed  Google Scholar 

  298. Weissman, J. R., Kelley, R. I., Bauman, M. L., Cohen, B. H., Murray, K. F., Mitchell, R. L., et al. (2008). Mitochondrial disease in autism spectrum disorder patients: A cohort analysis. PLoS One, 3(11), e3815.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  299. Campistol, J., Díez-Juan, M., Callejón, L., Fernandez-De Miguel, A., Casado, M., Garcia Cazorla, A., et al. (2016). Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders. Developmental Medicine and Child Neurology, 58(8), 842–847.

    Article  PubMed  Google Scholar 

  300. Schiff, M., Benoist, J.-F., Aïssaoui, S., Boespflug-Tanguy, O., Boepsflug-Tanguy, O., Mouren, M.-C., et al. (2011). Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders? PLoS One, 6(7), e21932.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  301. Cooper, A. S., Friedlaender, E., Levy, S. E., Shekdar, K. V., Bradford, A. B., Wells, K. E., et al. (2016). The implications of brain MRI in autism spectrum disorder. Journal of Child Neurology, 31(14), 1611–1616.

    Article  PubMed  Google Scholar 

  302. Hughes, R., Poon, W.-Y., & Harvey, A. S. (2015). Limited role for routine EEG in the assessment of staring in children with autism spectrum disorder. Archives of Disease in Childhood, 100(1), 30–33.

    Article  PubMed  Google Scholar 

  303. Leigh, J. P., & Du, J. (2015). Brief report: Forecasting the economic burden of autism in 2015 and 2025 in the United States. Journal of Autism and Developmental Disorders, 45(12), 4135–4139.

    Article  PubMed  Google Scholar 

  304. Kerim, M. M., Lavelle, T. A., Helm, D. T., Thompson, D., Prestt, J., Azeem, M. W. (2016). Autism a global framework for action. https://www.wish.org.qa/wp-content/uploads/2018/01/IMPJ4495_WISH_Autism_Report_WEB.pdf

  305. WISH. (2018). Autism. WISH.

    Google Scholar 

Download references

Acknowledgements

The authors want to thank their respective institutions for their continued support. The authors declare no conflict of interest.

Author information

Authors and Affiliations

  1. Clinical and Metabolic Genetics Section, Pediatrics Department, Hamad General Hospital (HGH), Women’s Wellness and Research Center (WWRC) and Interim Translational Research Institute (iTRI), Hamad Medical Corporation (HMC), Doha, Qatar

    Nader Al-Dewik

  2. College of Health and Life Sciences, Hamad Bin Khalifa University (HBKU), Doha, Qatar

    Nader Al-Dewik & Dalal Alsharshani

  3. Faculty of Health and Social Care Sciences, Kingston University, St. George’s University of London, London, UK

    Nader Al-Dewik

  4. Department of Biomedical Science, College of Health Science, Qatar University, Doha, Qatar

    Rana Al-Jurf

  5. Health Profession Awareness Program, Health Facilities Development, Hamad Medical Corporation (HMC), Doha, Qatar

    Meghan Styles

  6. Child Development Center, Hamad Medical Corporation, Doha, Qatar

    Sona Tahtamouni

  7. Diagnostic Genetics Division (DGD), Department of Laboratory Medicine and Pathology (DLMP), Hamad Medical Corporation (HMC), Doha, Qatar

    Mohammed Alsharshani

  8. Qatar Rehabilitation Institute (QRI), Hamad Medical Corporation (HMC), Doha, Qatar

    Amal I. Ahmad & Azhar Khattab

  9. Department of Pediatrics and Neonatology, Newborn Screening Unit, Hamad Medical Corporation, Doha, Qatar

    Hilal Al Rifai

  10. Research and Policy Department, World Innovation Summit for Health (WISH), Qatar Foundation, Doha, Qatar

    M. Walid Qoronfleh

Authors
  1. Nader Al-Dewik
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Rana Al-Jurf
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Meghan Styles
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Sona Tahtamouni
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Dalal Alsharshani
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Mohammed Alsharshani
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Amal I. Ahmad
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Azhar Khattab
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Hilal Al Rifai
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. M. Walid Qoronfleh
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Nader Al-Dewik .

Editor information

Editors and Affiliations

  1. Food Science and Nutrition, CAMS, Sultan Qaboos University, Muscat, Oman

    M. Mohamed Essa

  2. World Innovation Summit for Health WISH, Qatar Foundation, Doha, Qatar

    M. Walid Qoronfleh

Rights and permissions

Reprints and permissions

Copyright information

© 2020 Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Al-Dewik, N. et al. (2020). Overview and Introduction to Autism Spectrum Disorder (ASD). In: Essa, M., Qoronfleh, M. (eds) Personalized Food Intervention and Therapy for Autism Spectrum Disorder Management. Advances in Neurobiology, vol 24. Springer, Cham. https://doi.org/10.1007/978-3-030-30402-7_1

Download citation

Publish with us

Policies and ethics

Search

Navigation