The Association Between Autism and Errors in Early Embryogenesis: What Is the Causal Mechanism?

Biological Psychiatry

Volumn 67, Issue 7, 2010, Pages 602-607

  Ploeger, Annemie ^a   Raijmakers, Maartje E J ^a   van der Maas, Han L J ^a   Galis, Frietson ^b  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b LEIDEN UNIVERSITY   (Netherlands)

Author keywords

Autism; critical periods; early organogenesis; medical comorbidities; physical anomalies; prenatal complications

Indexed keywords

ANTICONVULSIVE AGENT; MISOPROSTOL; THALIDOMIDE;

ANXIETY DISORDER; ASPERGER SYNDROME; AUTISM; COMORBIDITY; CONGENITAL MALFORMATION; DISEASE ASSOCIATION; DOWN SYNDROME; EMBRYO DEVELOPMENT; ENVIRONMENTAL FACTOR; EPILEPSY; FRAGILE X SYNDROME; GASTRITIS; GENE MUTATION; HUMAN; INSOMNIA; NEUROFIBROMATOSIS; NEUROPATHOLOGY; NEURULATION; ORGANOGENESIS; PATHOGENESIS; PLEIOTROPY; PREGNANCY COMPLICATION; PREGNANCY DISORDER; PRENATAL DRUG EXPOSURE; PRENATAL EXPOSURE; PRIORITY JOURNAL; REVIEW; RUBELLA; STOMACH ULCER; TERATOGENESIS;

ANTICONVULSANTS; AUTISTIC DISORDER; EPILEPSY; FEMALE; FETAL DEVELOPMENT; FETAL DISEASES; HUMANS; PREGNANCY; PREGNANCY COMPLICATIONS; RUBELLA;

EID: 77949485945     PISSN: 00063223     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.biopsych.2009.10.010     Document Type: Review

References (86)

1. Volkmar F.R., and Pauls D. Autism. Lancet 362 (2003) 1133-1141
2. Fombonne E. Epidemiology of pervasive developmental disorders. Pediatr Review 65 (2009) 591-598
3. Freitag C.M. The genetics of autistic disorders and its clinical relevance: A review of the literature. Mol Psychiatry 12 (2007) 2-22
4. Gupta A.R., and State M.W. Recent advances in the genetics of autism. Biol Psychiatry 61 (2007) 429-437
5. Sander K. The evolution of patterning mechanisms: Gleaning from insect embryogenesis and spermatogenesis. In: Goodwin B.C., Holder N., and Wylie C.C. (Eds). Development and Evolution (1983), Cambridge University Press, Cambridge, United Kingdom 137-159
6. Raff R.A. Developmental mechanisms in the evolution of animal form: Origins and evolvability of body plans. In: Bengston S. (Ed). Early Life on Earth (1994), Columbia University Press, New York 489-500
7. Galis F., and Metz J.A.J. Testing the vulnerability of the phylotypic stage: On modularity and evolutionary conservation. J Exp Zool 291 (2001) 195-204
8. Arndt T.L., Stodgell C.J., and Rodier P.M. The teratology of autism. Int J Dev Neurosci 23 (2005) 189-199
9. Miller M.T., Strömland K., Ventura L., Johansson M., Bandim J.M., and Gillberg C. Autism associated with conditions characterized by developmental errors in early embryogenesis: A mini review. Int J Dev Neurosci 23 (2005) 201-219
10. Biesecker L.G. Polydactyly: How many disorders and how many genes?. Am J Med Genet 112 (2002) 279-283
11. Galis F., van Dooren T.J.M., Feuth J.D., Metz J.A.J., Witkam A., Ruinard S., et al. Extreme selection in humans against homeotic transformations of cervical vertebrae. Evolution 60 (2006) 2643-2654
12. West-Eberhard M.J. Developmental Plasticity and Evolution (2003), Oxford University Press, New York
13. Opitz J.M., FitzGerald J.M., Reynolds J.F., Lewin S.O., Daniel A., Ekblom L.S., et al. The Montana fetal genetic Pathology Program and a review of prenatal death in humans. Am J Med Genet Suppl 3 (1987) 93-112
14. DeSesso J.M., and Harris S.B. Principles underlying developmental toxicity. In: Fan A.K., and Chang L.W. (Eds). Toxicology and Risk Assessment: Principles, Methods, and Applications (1996), Marcel Dekker, New York 37-56
15. Wilson J.G. Methods for administering agents and detecting malformations in experimental animals. In: Wilson J.G., and Warkany J. (Eds). Teratology: Principles and Techniques. (1965), University of Chicago Press, Chicago 262-277
16. Wagner G.P. Homologues, natural kinds and the evolution of modularity. Am Zool 36 (1996) 36-43
17. Larsen W.J. Human Embryology. 3rd ed. (2001), Churchill Livingstone, Philadelphia
18. ten Donkelaar H.J., Lammens M., Cruysberg J.R.M., and Cremers C.W.J.R. Development and developmental disorders of the forebrain. In: ten Donkelaar H.J., Lammens M., and Hori A. (Eds). Clinical Neuroembryology: Development and Developmental Disorders of the Human Central Nervous System (2006), Springer, Berlin 269-308
19. Müller F., and O'Rahilly R. The development of the human brain from a closed neural tube at stage 13. Anat Embryol 177 (1988) 203-224
20. O'Rahilly R., and Müller F. The Embryonic Human Brain: An Atlas of Developmental Stages. 3rd ed. (2006), Wiley, Hoboken, New Jersey
21. Müller F., and O'Rahilly R. The amygdaloid complex and the medial and lateral ventricular eminences in staged human embryos. J Anat 208 (2006) 547-564
22. Müller F., and O'Rahilly R. The first appearance of the future cerebral hemispheres in the human embryo at stage 14. Anat Embryol 177 (1988) 495-511
23. O'Rahilly R., and Gardner E. The timing and sequence of events in the development of the limbs in the human embryo. Anat Embryol 148 (1975) 1-23
24. O'Rahilly R. The timing and sequence of events in human cardiogenesis. Acta Anat 79 (1971) 70-75
25. O'Rahilly R., and Muecke E.C. The timing and sequence of events in the development of the human urinary system during the embryonic period proper. Z Anat Entwicklgesch 138 (1972) 99-109
26. O'Rahilly R., and Boyden E.A. The timing and sequence of events in the development of the human respiratory system during the embryonic period proper. Z Anat Entwicklgesch 141 (1973) 237-250
27. O'Rahilly R. The timing and sequence of events in the development of the human digestive system and associated structures during the embryonic period proper. Anat Embryol 153 (1978) 123-136
28. Holbrook K.A., and Odland G.F. The fine structure of developing human epidermis: Light, scanning, and transmission electron microscopy of the periderm. J Invest Dermatol 65 (1975) 16-38
29. O'Rahilly R. The timing and sequence of events in the development of the human eye and ear during the embryonic period proper. Anat Embryol 168 (1983) 87-99
30. ten Donkelaar H.J., and Vermeij-Keers C. The neural crest and craniofacial malformations. In: ten Donkelaar H.J., Lammens M., and Hori A. (Eds). Clinical Neuroembryology: Development and Developmental Disorders of the Human Central Nervous System (2006), Springer, Berlin 191-228
31. O'Rahilly R. The timing and sequence of events in the development of the human reproductive system during the embryonic period proper. Anat Embryol 166 (1983) 247-261
32. Miller M.T., and Strömland K. Teratogen update: Thalidomide: A review, with a focus on ocular findings and new potential uses. Teratology 60 (1999) 306-321
33. Lenz W., and Knapp K. Die thalidomide-embryopathie. Dtsch Med Wochenschr 87 (1962) 1232-1242
34. Strömland K., Nordin V., Miller M., Akerström B., and Gillberg C. Autism in thalidomide embryopathy: A population study. Dev Med Child Neurol 36 (1994) 351-356
35. Desmond M.M., Wilson G.S., Melnick J.L., Singer D.B., Zion T.E., Rudolph A.J., et al. Congenital rubella encephalitis: Course and early sequelae. J Pediatr 71 (1970) 311-331
36. Miller E., Cradock-Watson J.E., and Pollock T.M. Consequences of confirmed maternal rubella at successive stages of pregnancy. Lancet 320 (1982) 781-784
37. Ueda K., Nishida Y., Oshima K., and Shepard T.H. Congenital rubella syndrome: Correlation of gestational age at time of maternal rubella with type of defect. J Pediatr 94 (1979) 763-765
38. Chess S. Autism in children with congenital rubella. J Autism Child Schiz 1 (1971) 33-47
39. Chess S. Follow-up report on autism in congenital rubella. J Autism Child Schiz 7 (1977) 69-81
40. Jick S.S., and Terris B.Z. Anticonvulsants and congenital malformations. Pharmacotherapy 17 (1997) 561-564
41. Moore S.J., Tumpenny P., Quinn A., Glover S., Lloyd D.J., Montgomery T., et al. A clinical study of 57 children with fetal anticonvulsant syndromes. J Med Genet 37 (2000) 489-497
42. Norman J.E., Thong K.J., and Baird D.T. Uterine contractibility and induction of abortion in early pregnancy by misoprostol and mifepristone. Lancet 338 (1991) 1233-1236
43. Population Council. Misoprostol and teratogenicity: Reviewing the evidence: Report of a Meeting at the Population Council New York, New York, May 22, 2002 (2003), The Population Council Inc, New York
44. Bandim J.M., Ventura L.O., Miller M.T., Almeida H.C., and Costa A.E. Autism and Möbius sequence: An exploratory study in northeastern Brazil. Arq Neuro Psiquiatr 61 (2003) 181-185
45. Sudarshan A., and Goldie W.D. The spectrum of congenital facial diplegia (Moebius syndrome). Pediatr Neurol 1 (1985) 180-184
46. Schmitz C., and Rezaie P. The neuropathology of autism: Where do we stand?. Neuropathol Appl Neurobiol 34 (2008) 4-11
47. Wier M.L., Yoshida C.K., Odouli R., Grether J.K., and Croen L.A. Congenital anomalies associated with autism spectrum disorders. Dev Med Child Neurol 48 (2006) 500-507
48. Zafeiriou D.I., Ververi A., and Vargiami E. Childhood autism and associated comorbidities. Brain Dev 29 (2007) 257-272
49. Wiznitzer M. Autism and tuberous sclerosis. J Child Neurol 19 (2004) 675-679
50. Clifford S., Dissanayake C., Bui Q.M., Huggins R., Taylor A.K., and Loesch D.Z. Autism spectrum phenotype in males and females with fragile X full maturation and premutation. J Autism Dev Disord 37 (2007) 738-747
51. Lowenthal R., Paula C.S., Schwartzman J.S., Brunoni D., and Mercadante M.T. Prevalence of pervasive developmental disorder in Down's syndrome. J Autism Dev Disord 37 (2007) 1394-1395
52. Williams P.G., and Hersh J.H. Brief report: The association of neurofibromatosis type 1 and autism. J Autism Dev Disord 28 (1998) 567-571
53. Crino P.B., Nathanson K.L., and Henske E.P. The tuberous sclerosis complex. N Engl J Med 355 (2006) 1345-1356
54. Visootsak J., Warren S.T., Anido A., and Graham Jr. J.M. Fragile X syndrome: An update and review for the primary pediatrician. Clin Pediatr 44 (2005) 371-381
55. Reddy K.S. Cytogenetic abnormalities and fragile-X syndrome in autism spectrum disorder. BMC Med Genet 6 (2005) 3-18
56. Roizen N.J., and Patterson D. Down's syndrome. Lancet 361 (2003) 1281-1289
57. Reynolds R.M., Browning G.G.P., Nawroz I., and Campbell I.W. Von Recklinghausen's neurofibromatosis: Neurofibromatosis type 1. Lancet 361 (2003) 1552-1554
58. Marden P.M., Smith D.W., and McDonald M.J. Congenital anomalies in the newborn infant, including minor variations. J Pediatr 64 (1964) 357-371
59. Leppig K.A., Werler M.M., Cann C.I., Cook C.A., and Holmes L.B. Predictive value of minor anomalies. I. Association with major malformations. J Pediatr 110 (1987) 531-537
60. Mehes K. Minor malformations in the neonate: Utility in screening infants at risk of hidden major defects. Prog Clin Biol Res 163 (1985) 45-49
61. Ozgen H.M., Hop J.W., Beemer F.A., and van Engeland H. Minor physical anomalies in autism: A meta-analysis. [published online ahead of print July 15]. Mol Psychiatry (2008)
62. Walker H.A. Incidence of minor physical anomalies in autism. J Autism Child Schiz 7 (1977) 165-176
63. Rodier P.M., Bryson S.E., and Welch J.P. Minor malformations and physical measurements in autism: Data from Nova Scotia. Teratology 55 (1997) 319-325
64. Lauritsen M.B., Mors O., Mortensen P.B., and Ewald H. Medical disorders among inpatients with autism in Denmark according to ICD-8: A nationwide register-based study. J Autism Dev Disord 32 (2002) 115-119
65. Canitano R. Epilepsy in autism spectrum disorders. Eur Child Adolesc Psychiatry 16 (2007) 61-66
66. Mukaddes N.M., Kilincaslan A., Kucukyazici G., Sevketoglu T., and Tuncer S. Autism in visually impaired individuals. Psychiatry Clin Neurosci 61 (2007) 39-44
67. Manzi B., Loizzo A.L., Giana G., and Curatolo P. Autism and metabolic diseases. J Child Neurol 23 (2008) 307-314
68. Yao Y., Walsh W.J., McGinnis W.R., and Pratico D. Altered vascular phenotype in autism. Arch Neurol 63 (2006) 1161-1164
69. Nikolov R.N., Bearss K.E., Lettinga J., Erickson C., Rodowski M., Aman M.G., et al. Gastrointestinal symptoms in a sample of children with pervasive developmental disorders. J Autism Dev Disord 39 (2009) 405-413
70. Cohly H.H.P., and Panja A. Immunological findings in autism. Int Rev Neurobiol 71 (2005) 317-341
71. Leyfer O.T., Folstein S.E., Bacalman S., Davis N.O., Dinh E., Morgan J., et al. Comorbid psychiatric disorders in children with autism: Interview development and rates of disorders. J Autism Dev Disord 36 (2006) 849-861
72. Rodier P.M. Converging evidence for brain stem injury in autism. Dev Psychopathol 14 (2002) 537-557
73. Doja A., and Roberts W. Immunizations and autism: A review of the literature. Can J Neural Sci 33 (2006) 341-346
74. Ghaziuddin M., Al-Khouri I., and Ghaziuddin N. Autistic symptoms following herpes encephalitis. Eur Child Adolesc Psychiatry 11 (2002) 142-146
75. Rice D., and Barone Jr. S. Critical periods of vulnerability for the developing nervous system: Evidence from humans and animal models. Environ Health Perspect 108 (2000) 511-533
76. Meyer U., Yee B.K., and Feldon J. The neurodevelopmental impact of prenatal infections at different times of pregnancy: The earlier the worse?. Neuroscientist 13 (2007) 241-256
77. Kinney D.K., Miller A.M., Crowley D.J., Huang E., and Gerber E. Autism prevalence following prenatal exposure to hurricanes and tropical storms in Louisiana. J Autism Dev Disord 38 (2008) 481-488
78. Fatemi S.H., Pearce D.A., and Brooks A.I.SidwellR.W. Prenatal viral infection in mouse causes differential expression of genes in brains of mouse progeny: A potential animal model for schizophrenia and autism. Synapse 57 (2005) 91-99
79. Lane A., Kinsella A., Murphy P., Byrne M., Keenan J., Colgan K., et al. The anthropometric assessment of dysmorphic features in schizophrenia as an index of its developmental origins. Psychol Med 27 (1997) 1155-1164
80. Arinami T. Analyses of the associations between the genes of 22q11 deletion syndrome and schizophrenia. J Hum Genet 51 (2006) 1037-1045
81. Vogels A., De Hert M., Descheemaeker M.J., Govers V., Devriendt K., Legius E., et al. Psychotic disorders in Prader-Willi syndrome. Am J Med Genet 127A (2004) 238-243
82. Reik W., and Walter J. Genomic imprinting: Parental influence on the genome. Nat Rev Genet 2 (2001) 21-32
83. Davies W., Isles A.R., and Wilkinson L.S. Imprinted gene expression in the brain. Neurosci Behav Physiol 29 (2005) 421-430
84. Crespi B., and Badcock C. Psychosis and autism as diametrical disorders of the social brain. Behav Brain Sci 31 (2008) 241-261
85. Tycko B., and Morison M. Physiological functions of imprinted genes. J Cell Physiol 192 (2002) 245-258
86. Badcock C.CrespiB. Imbalanced genomic imprinting in brain development: An evolutionary basis for the aetiology of autism. J Evol Biol 19 (2006) 1007-1032