Contributions of the environment and environmentally vulnerable physiology to autism spectrum disorders

Current Opinion in Neurology

Volumn 23, Issue 2, 2010, Pages 103-110

  Herbert, Martha R ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Autism; Dynamic encephalopathy; Environment; Glutathione; Oxidative stress; Pathophysiology

Indexed keywords

3 NITROTYROSINE; 4 AMINOBUTYRIC ACID; ACETYLCHOLINE; ALAD2 PROTEIN; ARYLDIALKYLPHOSPHATASE 1; CALCIUM; COPROPORPHYRIN; COPROPORPHYRIN OXIDASE; FOLINIC ACID; GLUTATHIONE; GLUTATHIONE PEROXIDASE 1; HEAVY METAL; MECOBALAMIN; MERCURY; OMEGA 3 FATTY ACID; ORGANOPHOSPHATE; PARACETAMOL; PHOSPHATIDYLETHANOLAMINE; PORPHOBILINOGEN SYNTHASE; SULFUR AMINO ACID; THIOMERSAL; UNCLASSIFIED DRUG; VALPROIC ACID; XENOBIOTIC AGENT;

AIR POLLUTION; AMINO ACID METABOLISM; ARTIFACT; AUTISM; BIOAVAILABILITY; BRAIN DISEASE; BRAIN NERVE CELL; CALCIUM SIGNALING; CENTRAL NERVOUS SYSTEM; CLINICAL TRIAL; CLOSTRIDIUM INFECTION; CONGENITAL RUBELLA SYNDROME; CONTROLLED STUDY; COPY NUMBER VARIANT; DIET; DISEASE PREDISPOSITION; EARLY DIAGNOSIS; ENCEPHALITIS; ENVIRONMENTAL EXPOSURE; ENVIRONMENTAL FACTOR; ENVIRONMENTAL STRESS; EPIGENETICS; EVIDENCE BASED PRACTICE; FAT INTAKE; FOOD CONTAMINATION; GENE EXPRESSION; GENE INTERACTION; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GLUTATHIONE METABOLISM; HUMAN; IMMUNOMODULATION; INCIDENCE; MITOCHONDRION; NERVE FIBER; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; NUTRITION; OXIDATIVE STRESS; PARENTAL AGE; PATHOPHYSIOLOGY; PHENOTYPE; PRENATAL DRUG EXPOSURE; PREVALENCE; REVIEW; RISK FACTOR; SIGNAL TRANSDUCTION; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY;

CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; ENVIRONMENT; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MODELS, NEUROLOGICAL;

EID: 77949368541     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/WCO.0b013e328336a01f     Document Type: Review

References (106)

1. Herbert MR, Anderson MP. An expanding spectrum of autism models: from fixed developmental defects to reversible functional impairments. Autism: current theories and evidence. In: Zimmerman A, editor. Totowa, NJ: Humana Press; 2008. pp. 429-463.
2. Theoharides TC, Kempuraj D, Redwood L Autism: an emerging 'neuroim-mune disorder' in search of therapy. Expert Opin Pharmacother 2009; 10:2127-2143.
3. McCarthy M, Hendren RL Autism spectrum disorders have increased dramatically in prevalence in recent years [preface]. Psychiatr Clin North Am 2009; 32:xiii-xv.
4. Berg R. Autism: an environmental health issue after all? J Environ Health 2009; 71:14-18.
5. Rodier PM, Ingram JL, Tisdale B, et al. Linking etiologies in humans and animal models: studies of autism. Reprod Toxicol 1997; 11:417-422.
6. Chess S, Fernandez P, Korn S. Behavioral consequences of congenital rubella. J Pediatr 1978; 93:699-703.
7. Board on Health Sciences Policy. Autism and the environment: challenges and opportunities for research. Washington, DC: National Academy of Sciences; 2008.
8. Chauhan A. special issue on autism spectrum disorders. Am J Biochem Biotechnol 2008; 4:54-60. http://www.scipub.org/fulltext/ajbb/ajbb4254-4260.pdf.
9. Autism and Developmental Disabilities Monitoring Network Surveillance Year 2000 Principal Investigators; Centers for Disease Control and Prevention. Prevalence of autism spectrum disorders: autism and developmental disabilities monitoring network, six sites, United States; 2000. MMWR Surveill Summ 2007; 56:1-11.
10. Autism and Developmental Disabilities Monitoring Network Surveillance Year 2002 Principal Investigators; Centers for Disease Control and Prevention. Prevalence of autism spectrum disorders: autism and developmental disabilities monitoring network, 14 sites, United States; 2002. MMWR Surveill Summ 2007; 56:12-28.
11. Baron-Cohen S, Scott FJ, Allison C, et al. Prevalence of autism-spectrum conditions: UK school-based population study. Br J Psychiatry 2009; 194:500-509.
12. Kogan MD, Blumberg SJ, Schieve LA, et al. Prevalence of parent-reported diagnosis of autism spectrum disorder among children in the US, 2007. Pediatrics 2009; 124:1395-1403.
13. Coo H, Ouellette-Kuntz H, Lloyd JE, et al. Trends in autism prevalence: diagnostic substitution revisited. J Autism Dev Disord 2008; 38:1036-1046.
14. Bishop DV, Whitehouse AJ, Watt HJ, et al. Autism and diagnostic substitution: evidence from a study of adults with a history of developmental language disorder. Dev Med Child Neurol 2008; 50:341-345.
15. Parner ET, Schendel DE, Thorsen P. Autism prevalence trends over time in Denmark: changes in prevalence and age at diagnosis. Arch Pediatr Adolesc Med 2008; 162:1150-1156.
16. Dodds L, Spencer A, Shea S, et al. Validity of autism diagnoses using administrative health data. Chronic Dis Can 2009; 29:102-107.
17. Williams K, MacDermott S, Ridley G, et al. The prevalence of autism in Australia. Can it be established from existing data? J Paediatr Child Health 2008; 44:504-510.
18. Barbaresi WJ, Colligan RC, Weaver AL, et al. The incidence of clinically diagnosed versus research-identified autism in Olmsted County, Minnesota, 1976-1997: results from a retrospective, population-based study. J Autism Dev Disord 2009; 39:464-470.
19. Hertz-Picciotto I, Delwiche L. The rise in autism and the role of age at diagnosis. Epidemiology 2009; 20:84-90.
20. Grinker RR, Leventhal BL. Estimating the incidence of autism. Epidemiology 2009; 20:622-623; author reply 623-624.
21. King M, Bearman P. Diagnostic change and the increased prevalence of autism. Int J Epidemiol 2009; 38:1224-1234.
22. Grether JK, Rosen NJ, Smith KS, et al. Investigation of shifts in autism reporting in the California Department of Developmental Services. J Autism Dev Disord 2009; 39:1412-1419.
23. Pessah IN, Lein PJ. Evidence for environmental susceptibility in autism: what we need to know about gene x environment interactions. Autism: current theories and evidence. In: Zimmerman A, editor. New York, NY: Humana Press; 2008.
24. Altevogt BM, Hanson SL, Leshner AI. Autism and the environment: challenges and opportunities for research. Pediatrics 2008; 121:1225-1229.
25. Zimmerman A. Autism: current theories and evidence. In: Zimmerman A, editor. Totowa, NJ: Humana Press; 2008.
26. Corrales M, Herbert MR. Autism and environmental genomics. In: Amaral D, Dawson G, Geschwind D, editors. Autism. Oxford University Press (in press).
27. Chauhan A, Chauhan V, Brown T. Autism: oxidative stress, inflammation and immune abnormalities. In: Brown T, editor. Boca Raton, FL: Taylor & Francis/ CRC Press; 2009.
28. Chauhan A. Special issue on autism spectrum disorders. Am J Biochem Biotechnol 2008; 4:61-225. http://www.scipub.org/scipub/detail-issue. php?V-No=1 73&j-id=ajbb.
29. Rieder MJ, Livingston RJ, Stanaway IB, et al. The environmental genome project: reference polymorphisms for drug metabolism genes and genome-wide association studies. Drug Metab Rev 2008; 40:241-261.
30. Herbert MR, Russo JP, Yang S, et al. Autism and environmental genomics. Neurotoxicology 2006; 27:671-684.
31. Wiegers TC, Davis AP, Cohen KB, et al. Text mining and manual curation of chemical-gene-disease networks for the Comparative Toxicogenomics Database (CTD). BMC Bioinformatics 2009; 10:326.
32. Zecavati N, Spence SJ. Neurometabolic disorders and dysfunction in autism spectrum disorders. Curr Neurol Neurosci Rep 2009; 9:129-136.
33. James SJ. Oxidative stress and metabolic pathology of autism. In: Zimmerman A, editor. Autism: current theories and evidence. Totowa, NJ: Humana Press; 2008.
34. Ming X, Johnson W, Stenroos E, et al. Genetic variant of glutathione peroxidase 1 in autism. Brain Development 2009 [Epub ahead of print].
35. Rose S, Melnyk S, Savenka A, et al. The frequency of polymorphisms affecting lead and mercury toxicity among children with autism. Am J Biochem Biotechnol 2008; 4:85-94. http://www.scipub.org/fulltext/ajbb/ ajbb4285-4294.pdf.
36. Huen K, Harley K, Brooks J, et al. Developmental changes in PON1 enzyme activity in young children and effects of PON1 polymorphisms. Environ Health Perspect 2009; 117:1632-1638.
37. D'Amelio M, Ricci I, Sacco R, et al. Paraoxonase gene variants are associated with autism in North America, but not in Italy: possible regional specificity in gene-environment interactions. Mol Psychiatry 2005; 10:1006-1016.
38. Pasca SP, Dronca E, Nemes B, et al. Paraoxonase 1 activities and polymorphisms in autism spectrum disorders. J Cell Mol Med 2008 [Epub ahead of print].
39. Sebat J, Lakshmi B, Malhotra D, et al. Strong association of de novo copy number mutations with autism. Science 2007; 316:445-449.
40. Bucan M, Abrahams BS, Wang K, et al. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet 2009; 5:e1000536.
41. Durkin MS, Maenner MJ, Newschaffer CJ, et al. Advanced parental age and the risk of autism spectrum disorder. Am J Epidemiol 2008; 168:1268-1276.
42. Kinney DK, Barch DH, Chayka B, et al. Environmental risk factors for autism: do they help cause de novo genetic mutations that contribute to the disorder? Med Hypotheses 2009; 32:1519-1532.
43. Cannell JJ. Autism and vitamin D. Med Hypotheses 2008; 70:750-759.
44. Dietert RR, Dietert JM. Possible role for early-life immune insult including developmental immunotoxicity in chronic fatigue syndrome (CFS) or myalgic encephalomyelitis (ME). Toxicology 2008; 247:61-72.
45. Dietert RR, Dietert JM. Potential for early-life immune insult including developmental immunotoxicity in autism and autism spectrum disorders: focus on critical windows of immune vulnerability. J Toxicol Environ Health B Crit Rev 2008; 11:660-680.
46. Fatemi SH. The role of neurodevelopmental genes in infectious etiology of autism. Am J Biochem Biotechnol 2008; 4:177-182. http://www.scipub. org/fulltext/ajbb/ajbb42177-42182.pdf.
47. O'Donnell K, O'Connor TG, Glover V. Prenatal stress and neurodevelopment of the child: focus on the HPA axis and role of the placenta. Dev Neurosci 2009; 31:285-292.
48. Kinney DK, Munir KM, Crowley DJ, et al. Prenatal stress and risk for autism. Neurosci Biobehav Rev 2008; 32:1519-1532.
49. Theoharides TC, Doyle R. Autism, gut-blood-brain barrier, and mast cells. J Clin Psychopharmacol 2008; 28:479-483.
50. Deth R, Muratore C, Benzecry J, et al. How environmental and genetic factors combine to cause autism: a redox/methylation hypothesis. Neurotoxicology 2008; 29:190-201.
51. Suh JH, Walsh WJ, McGinnis WR, et al. Altered sulfur amino acid metabolism in immune cells of children diagnosed with autism. Am J Biochem Biotechnol 2008; 4:105-113. http://www.scipub.org/fulltext/ajbb/ajbb42105-42113. pdf.
52. Pasca SP, Dronca E, Kaucsar T, et al. One carbon metabolism disturbances and the C667T MTHFR gene polymorphism in children with autism spectrum disorders. J Cell Mol Med 2008 [Epub ahead of print].
53. Chauhan A, Sheikh AM, Chauhan V. Increased copper-mediated oxidation of membrane phosphatidylethanolamine in autism. Am J Biochem Biotechnol 2008; 4:95-100.
54. James SJ, Melnyk S, Fuchs G, et al. Efficacy of methylcobalamin and folinic acid treatment on glutathione redox status in children with autism. Am J Clin Nutr 2009; 89:425-430.
55. James SJ, Melnyk S, Jernigan S, et al. Abnormal transmethylation/ transsul-furation metabolism and DNA hypomethylation among parents of children with autism. J Autism Dev Disord 2008; 38:1966-1975.
56. Becker KG, Schultz ST. Similarities in features of autism and asthma and a possible link to acetaminophen use. Med Hypotheses 2010; 74:7-11.
57. Schultz ST, Klonoff-Cohen HS, Wingard DL, et al. Acetaminophen (paracetamol) use, measles-mumps-rubella vaccination, and autistic disorder: the results of a parent survey. Autism 2008; 12:293-307.
58. Cox AR, McDowell S. A response to the article on the association between paracetamol/acetaminophen: use and autism by Stephen T. Schultz. Autism 2009; 13:123-124; author reply 124-125.
59. Faber S, Zinn GM, Kern JCN, et al. The plasma zinc/serum copper ratio as a biomarker in children with autism spectrum disorders. Biomarkers 2009; 14:171-180.
60. Nataf R, SkorupkaC, Lam A, et al. Porphyrinuria in childhood autistic disorder is not associated with urinary creatinine deficiency. Pediatr Int 2008; 50:528-532.
61. Austin DW, Shandley K. An investigation of porphyrinuria in Australian children with autism. J Toxicol Environ Health A 2008; 71:1349-1351.
62. Baker JP. Mercury, vaccines, and autism: one controversy, three histories. Am J Public Health 2008; 98:244-253.
63. Scahill L, Bearss K. The rise in autism and the mercury myth. J Child Adolesc Psychiatr Nurs 2009; 22:51-53.
64. Gerber JS, Offit PA. Vaccines and autism: a tale of shifting hypotheses. Clin Infect Dis 2009; 48:456-461.
65. Schechter R, Grether JK. Continuing increases in autism reported to California's developmental services system: mercury in retrograde. Arch Gen Psychiatry 2008; 65:19-24.
66. Fombonne E. Thimerosal disappears but autism remains. Arch Gen Psychiatry 2008; 65:15-16.
67. DeStefano F. Thimerosal-containing vaccines: evidence versus public apprehension. Expert Opin Drug Saf 2009; 8:1-4.
68. Hertz-Picciotto I, Green PG, Delwiche L, et al. Blood mercury concentrations in CHARGE study children with and without autism. Environ Health Perspect 2010; 118:161-166.
69. Montgomery KS, Mackey J, Thuett K, et al. Chronic, low-dose prenatal exposure to methylmercury impairs motor and mnemonic function in adult C57/B6 mice. Behav Brain Res 2008; 191:55-61.
70. Silbergeld EK. Mercury, vaccines, and autism, revisited. Am J Public Health 2008; 98:1350; author reply 1350-1351.
71. Sajdel-SulkowskaEM, Lipinski B, Windom H, et al. Oxidative stress in autism: elevated cerebellar 3-nitrotyrosine levels. Am J Biochem Biotechnol 2008, 4:73-84. http://www.scipub.org/fulltext/ajbb/ajbb4273-4284.pdf.
72. Lopez-Hurtado E, Prieto JJ. A microscopic study of language-related cortex in autism Am J Biochem Biotechnol 2008; 4:130-135. http://www.scipub. org/fulltext/ajbb/ajbb421 77-42182.pdf.
73. Evans TA, SiedlakSL, Lu L, et al. The autistic phenotype exhibits a remarkably localized modification of brain protein by products of free radical-induced lipid oxidation. Am J Biochem Biotechnol 2008; 4:61-72. http://www.sci-pub.org/fulltext/ajbb/ajbb4261-4272.pdf.
74. Vargas DL, Nascimbene C, Krishnan C, et al. Neuroglial activation and neuro-inflammation in the brain of patients with autism. Ann Neurol 2005;57:67-81.
75. Li X, Chauhan A, Sheikh AM, et al. Elevated immune response in the brain of autistic patients. J Neuroimmunol 2009; 207:111-116.
76. Blaylock RL. A possible central mechanism in autism spectrum disorders, part 3: the role of excitotoxin food additives and the synergistic effects of other environmental toxins. Altern Ther Health Med 2009; 15:56-60.
77. Windham GC, Zhang L, Gunier R, et al. Autism spectrum disorders in relation to distribution of hazardous air pollutants in the San Francisco Bay area. Environ Health Perspect 2006; 114:1438-1444.
78. Calderon-Garciduenas L, Solt AC, Henriquez-Roldan C, et al. Long-term air pollution exposure is associated with neuroinflammation, an altered innate immune response, disruption of the blood-brain barrier, ultrafine particulate deposition, and accumulation of amyloid beta-42 and alpha-synuclein in children and young adults. Toxicol Pathol 2008; 36:289-310.
79. Block ML, Calderon-Garciduenas L. Air pollution: mechanisms of neuroinflammation and CNS disease. Trends Neurosci 2009; 32:506-516.
80. Redcay E, Courchesne E. When is the brain enlarged in autism? A metaanalysis of all brain size reports. Biol Psychiatry 2005; 58:1-9.
81. Herbert MR. Large brains in autism: the challenge of pervasive abnormality. Neuroscientist 2005; 11:417-440.
82. Dager SR, Friedman SD, Petropoulos H, et al. Imaging evidence for pathological brain development in autism spectrum disorders. Autism: currenttheories and evidence. In: Zimmerman A, editor. Totowa, NJ: Humana Press; 2008.
83. Sundaram SK, Kumar A, Makki MI, et al. Diffusion tensor imaging of frontal lobe in autism spectrum disorder. Cereb Cortex 2008; 18:2659-2665.
84. Cheung C, Chua SE, Cheung V, et al. White matter fractional anisotrophy differences and correlates of diagnostic symptoms in autism. J Child Psychol Psychiatry 2009; 50:1102-1112.
85. Burroni L, Orsi A, Monti L, et al. Regional cerebral blood flow in childhood autism: a SPET study with SPM evaluation. Nucl Med Commun 2008; 29:150-156.
86. DegirmenciB,MiralS,Kaya GC,et al. Technetium-99m HMPAO brain SPECT in autistic children and their families. Psychiatry Res 2008; 162:236-243.
87. Valicenti-McDermott MD, McVicar K, Cohen HJ, et al. Gastrointestinal symptoms in children with an autism spectrum disorder and language regression. Pediatr Neurol 2008; 39:392-398.
88. Wiest MM, German JB, Harvey DJ, et al. Plasma fatty acid profiles in autism: a case-control study. Prostaglandins Leukot Essent Fatty Acids 2009; 80:221-227.
89. Morris C, Agin MC. Syndrome of allergy, apraxia, and malabsorption: characterizationof a neurodevelopmental phenotype that responds toomega 3 and vitamin E supplementation. Altern Ther Health Med 2009; 15:34-43.
90. Bent S, Bertoglio K, Hendren RL. Omega-3 fatty acids for autistic spectrum disorder: a systematic review. J Autism Dev Disord 2009; 39:1145-1154.
91. Dufault R, Schnoll R, Lukiw WJ, et al. Mercury exposure, nutritional deficiencies and metabolic disruptions may affect learning in children. Behav Brain Funct 2009; 5:44.
92. Herndon AC, DiGuiseppi C, Johnson SL, et al. Does nutritional intake differ between children with autism spectrum disorders and children with typical development? J Autism Dev Disord 2009; 39:212-222.
93. Finegold SM, Molitoris D, Song Y, et al. Gastrointestinal microflora studies in late-onset autism. Clin Infect Dis 2002; 35:S6-S16.
94. Sandler RH, Finegold SM, Bolte ER, et al. Short-term benefit from oral van-comycin treatment of regressive-onset autism. J Child Neurol 2000; 15:429-435.
95. Hookman P, Barkin JS. Clostridium difficile associated infection, diarrhea and colitis. World J Gastroenterol 2009; 15:1554-1580.
96. Phillips ML. Gut reaction: environmental effects on the human microbiota. Environ Health Perspect 2009; 117:A198-A205.
97. Shultz SR, MacFabe DF, Ossenkopp KP, et al. Intracerebroventricular injection of propionic acid, an enteric bacterial metabolic end-product, impairs social behavior in the rat: implications for an animal model of autism. Neuropharmacology 2008; 54:901-911.
98. MacFabe DF, Rodriguez-Capote K, Hoffman JE, et al. A novel rodent model of autism: intraventricular infusions of propionic acid increase locomotor activity and induce neuroinflammation and oxidative stress in discrete regions of adult rat brain. Am J Biochem Biotechnol 2008; 4:146-166. http://www. scipub.org/fulltext/ajbb/ajbb42146-421 66.pdf.
99. Curran LK, Newschaffer CJ, Lee LC, et al. Behaviors associated with fever in children with autism spectrum disorders. Pediatrics 2007; 120:e1386-e1392.
100. Anderson MP, Hooker BS, Herbert MR. Bridging from cells to cognition in autism pathophysiology: biological pathways to defective brain function and plasticity. Am J Biochem Biotechnol 2008; 4:167-176. http://www.scipub. org/fulltext/ajbb/ajbb421 67-42176.pdf.
101. Herbert MR. Autism: the centrality of active pathophysiology and the shift from static to chronic dynamic encephalopathy. In: Chauhan A, Chauhan V, Brown T, editors. Autism: oxidative stress, inflammation and immune abnormalities. Boca Raton, FL: Taylor & Francis /CRC Press; 2009.
102. Mehler MF, Purpura DP. Autism, fever, epigenetics and the locus coeruleus. Brain Res Rev 2009; 59:388-392.
103. Helt M, Kelley E, Kinsbourne M, et al. Can children with autism recover? If so, how? Neuropsychol Review 2008; 18:339-366.
104. Granpeesheh D, Tarbox J, Dixon D, et al. Retrospective analysis of clinical records in 38 cases of recovery from autism. Ann Clin Psychiatry 2009; 21:195-204.
105. Kleinman JM, Ventola PE, Pandey J, et al. Diagnostic stability in very young children with autism spectrum disorders. J Autism Dev Disord 2008; 38:606-615.
106. Sly PD, Flack F. Susceptibility of children to environmental pollutants. Ann N Y Acad Sci 2008; 1140:163-183.