The neurobiology of autism: New pieces of the puzzle

Current Neurology and Neuroscience Reports

Volumn 3, Issue 2, 2003, Pages 149-156

  Acosta, Maria T ^a   Pearl, Phillip L ^a  

^a CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR; ADENYLOSUCCINATE LYASE; GLUTAMATE RECEPTOR 6; HLA ANTIGEN; HOMEODOMAIN PROTEIN; MEASLES MUMPS RUBELLA VACCINE; METHYL CPG BINDING PROTEIN 2; MITOCHONDRIAL RNA; PROTEIN BCL 2; REELIN; SEROTONIN TRANSPORTER; SUCCINATE SEMIALDEHYDE DEHYDROGENASE; TRANSFER RNA; UBIQUITIN PROTEIN LIGASE; AGENTS INTERACTING WITH TRANSMITTER, HORMONE OR DRUG RECEPTORS; SEROTONIN;

AROUSAL; AUTISM; BRAIN GROWTH; CELL MIGRATION; CEREBELLUM; CHILD; COMORBIDITY; CYTOGENETICS; FAMILY HISTORY; GENE IDENTIFICATION; GENE MUTATION; GENETIC RISK; GENOME ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LIMBIC SYSTEM; LINKAGE ANALYSIS; NEUROBIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOPHYSIOLOGY; PURKINJE CELL; RETROSPECTIVE STUDY; REVIEW; THALAMOCORTICAL TRACT; GENETICS; GENOTYPE; GROWTH, DEVELOPMENT AND AGING; METABOLISM; NERVOUS SYSTEM; PATHOLOGY; PHENOTYPE; PHYSIOLOGY; VACCINATION;

AUTISTIC DISORDER; CHILD; CYTOGENETICS; GENOTYPE; HUMANS; MAGNETIC RESONANCE IMAGING; MEASLES-MUMPS-RUBELLA VACCINE; NERVOUS SYSTEM; NEUROTRANSMITTER AGENTS; PHENOTYPE; SEROTONIN; VACCINATION;

EID: 0038521332     PISSN: 15284042     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11910-003-0067-0     Document Type: Review

References (102)

1. Shinnar S, Rapin I, Arnold S, et al.: Language regression in childhood. Pediatr Neurol 2001, 24:183-189.
2. Tuchman RF, Rapin I: Regression in pervasive developmental disorders: seizures and epileptiform electroencephalogram correlates. Pediatrics 1997, 99:560-566.
3. Yeargin-Allsopp M: Past and future perspectives in autism epidemiology. Mol Psychiatry 2002, 7(suppl 2):S9-S11.
4. Lamb JA, Moore J, Bailey A, Monaco AP: Autism: recent molecular genetic advances. Hum Mol Genet 2000, 9:861-868.
5. Bailey A, Le Couteur A, Gottesman I, et al.: Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 1995, 25:63-77.
6. Rutter M: The Emanuel Miller Memorial Lecture 1998. Autism: two-way interplay between research and clinical work. J Child Psychol Psychiatry 1999, 40:169-188.
7. Pickles A, Starr E, Kazak S, et al.: Variable expression of the autism broader phenotype: findings from extended pedigrees. J Child Psychol Psychiatry 2000, 41:491-502.
8. Risch N, Spiker D, Lotspeich L, et al.: A genomic screen of autism: evidence for a multilocus etiology. Am J Hum Genet 1999, 65:493-507.
9. Spence MA: The genetics of autism. Curr Opin Pediatr 2001, 13:561-565.
10. Murphy M, Bolton PF, Pickles A, et al.: Personality traits of the relatives of autistic probands. Psychol Med 2000, 30:1411-1424.
11. Constantino JN, Todd RD: Genetic structure of reciprocal social behavior. Am J Psychiatry 2000, 157:2043-2045.
12. Bailey A, Palferman S, Heavey L, Le Couteur A: Autism: the phenotype in relatives. J Autism Dev Disord 1998, 28:369-392.
13. Smalley SL, Kustanovich V, Minassian SL, et al.: Genetic linkage of attention-deficit/hyperactivity disorder on chromosome 16p13, in a region implicated in autism. Am J Hum Genet 2002, 71:959-963.
14. A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p. Am J Hum Genet 2001, 69:570-581.
15. Gutknecht L: Full-genome scans with autistic disorder: a review. Behav Genet 2001, 31:113-123.
16. Shao Y, Wolpert CM, Raiford KL, et al.: Genomic screen and follow-up analysis for autistic disorder. Am J Med Genet 2002, 114:99-105.
17. Licinio J, Alvarado I: Progress in the genetics of autism. Mol Psychiatry 2002, 7:229.
18. Yu CE, Dawson G, Munson J, et al.: Presence of large deletions in kindreds with autism. Am J Hum Genet 2002, 71:100-115.
19. Fisher SE, Vargha-Khadem F, Watkins KF, et al.: Localization of a gene implicated in a severe speech and language disorder. Nat Genet 1998, 18:168-170.
20. Folstein SE, Mankoski RE: Chromosome 7q: where autism meets language disorder?. Am J Hum Genet 2000, 67:278-281.
21. Warburton P, Baird G, Chen W, et al.: Support for linkage of autism and specific language impairment to 7q3 from two chromosome rearrangements involving band 7q31. Am J Med Genet 2000, 96:228-234.
22. Lai CS, Fisher SE, Hurst JA, et al.: A forkhead-domain gene is mutated in a severe speech and language disorder. Nature 2001, 413:519-523.
23. Persico AM, D'Agruma L, Maiorano N, et al.: Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder. Mol Psychiatry 2001, 6:150-159.
24. Fatemi SH, Stary JM, Halt AR, Realmuto GR: Dysregulation of reelin and Bcl-2 proteins in autistic cerebellum. J Autism Dev Disord 2001, 31:529-535.
25. Petek E, Windpassinger C, Vincent JB, et al.: Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome. Am J Hum Genet 2001, 68:848-858.
26. Fatemi SH, Kroll JL, Stary JM: Altered levels of Reelin and its isoforms in schizophrenia and mood disorders. Neuroreport 2001, 12:3209-3215.
27. Hong SE, Shugart YY, Huang DT, et al.: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet 2000, 26:93-96.
28. Fombonne E, Chakrabarti S: No evidence for a new variant of measles-mumps-rubelia-induced autism. Pediatrics 2001, 108:E58.
29. Gillberg C: Chromosomal disorders and autism. J Autism Dev Disord 1998, 28:415-425.
30. Buxbaum JD, Silverman JM, Smith CJ, et al.: Association between a GABRB3 polymorphism and autism. Mol Psychiatry 2002, 7:311-0316.
31. Menold MM, Shao Y, Wolpert CM, et al.: Association analysis of chromosome 15 gaba receptor subunit genes in autistic disorder. J Neurogenet 2001, 15:245-259.
32. Martin ER, Menold M M, Wolpert CM, et al.: Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit genes in autistic disorder. Am J Med Genet 2000, 96:43-48.
33. Maestrini E, Lai C, Marlow A, et al.: Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium. Am J Med Genet 1999, 88:492-496.
34. Nurmi EL, Bradford Y, Chen Y, et al.: Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. Genomics 2001, 77:105-113.
35. Slopien A, Rajewski A: Genetic studies in autistic disorders. Psychiatry Pol 2000, 34:435-446.
36. Schutz CK, Polley D, Robinson PD, et al.: Autism and the X chromosome: no linkage to microsatellite loci detected using the affected sibling pair method. Am J Med Genet 2002, 109:36-41.
37. Amir RE, Zoghbi HY: Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype- genotype correlations. Am J Med Genet 2000, 97:147-152.
38. Hammer S, Dorrani N, Dragich J, et al.: The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome. Ment Retard Dev Disabil Res Rev 2002, 8:94-98.
39. Korvatska E, Van de WJ, Anders TF, Gershwin ME: Genetic and immunologic considerations in autism. Neurobiol Dis 2002, 9:107-125.
40. KemperTL, Bauman ML: The contribution of neuropathologic studies to the understanding of autism. Neurol Clin 1993, 11:175-187.
41. Saitoh O, Karns CM, Courchesne E: Development of the hippocampal formation from 2 to 42 years: MRI evidence of smaller area dentata in autism. Brain 2001, 124:1317-1324.
42. Courchesne E, Karns CM, Davis HR, et al.: Unusual brain growth patterns in early life in patients with autistic disorder: an MRI study. Neurology 2001, 57:245-254.
43. Courchesne E: Abnormal early brain development in autism. Mol Psychiatry 2002, 7(suppl 2):S21-S23.
44. Hardan AY, Minshew NJ, Harenski K, Keshavan MS: Posterior fossa magnetic resonance imaging in autism. J Am Acad Child Adolesc Psychiatry 2001, 40:666-672.
45. Sparks BF, Friedman SD, Shaw DW, et al.: Brain structural abnormalities in young children with autism spectrum disorder. Neurology 2002, 59:184-192.
46. Raymond GV, Bauman ML, Kemper TL: Hippocampus in autism: a Golgi analysis. Acta Neuropathol (Berl) 1996, 91:117-119.
47. Hashimoto T, Tayama M, Murakawa K, et al.: Development of the brainstem and cerebellum in autistic patients. J Autism Dev Disord 1995, 25:1-18.
48. Hardan AY, Minshew NJ, Keshavan MS: Corpus callosum size in autism. Neurology 2000, 55:1033-1036.
49. Fidler DJ, Bailey JN, Smalley SL: Macrocephaly in autism and other pervasive developmental disorders. Dev Med Child Neurol 2000, 42:737-740.
50. Fombonne E, Roge B, Claverie J, et al.: Microcephaly and macrocephaly in autism. J Autism Dev Disord 1999, 29:113-119.
51. Lainhart JE, Piven J, Wzorek M, et al.: Macrocephaly in children and adults with autism. J Am Acad Child Adolesc Psychiatry 1997, 36:282-290.
52. Courchesne E, Karns CM, Davis HR, et al.: Unusual brain growth patterns in early life in patients with autistic disorder: an MRI study. Neurology 2001, 57:245-254.
53. Lemons JA, Schreiner RL, Gresham EL: Relationship of brain weight to head circumference in early infancy. Hum Biol 1981, 53:351-354.
54. Aylward EH, Minshew NJ, Field K, et al.: Effects of age on brain volume and head circumference in autism. Neurology 2002, 59:175-183.
55. Carper RA, Courchesne E: Inverse correlation between frontal lobe and cerebellum sizes in children with autism. Brain 2000, 123(Pt 4):836-844.
56. Carper R, Moses P, Tigue Z, Courchesne E: Cerebral lobes in autism: early hyperplasia and abnormal age effects. Neuroimage 2002, 16:1038.
57. Saitoh O, Karns CM, Courchesne E: Development of the hippocampal formation from 2 to 42 years: MRI evidence of smaller area dentata in autism. Brain 2001, 124:1317-1324.
58. Egaas B, Courchesne E, Saitoh O: Reduced size of corpus callosum in autism. Arch Neurol 1995, 52:794-801.
59. Muller RA, Pierce K, Ambrose JB, et al.: Atypical patterns of cerebral motor activation in autism: a functional magnetic resonance study. Biol Psychiatry 2001, 49:665-676.
60. Pierce K, Muller RA, Ambrose J, et al.: Face processing occurs outside the fusiform 'face area' in autism: evidence from functional MRI. Brain 2001, 124:2059-2073.
61. Critchley HD, Daly EM, Bullmore ET, et al.: The functional neuroanatomy of social behaviour: changes in cerebral blood flow when people with autistic disorder process facial expressions. Brain 2000, 123(Pt 11):2203-2212.
62. Casey BJ, Giedd JN, Thomas KM: Structural and functional brain development and its relation to cognitive development. Biol Psychol 2000, 54:241-257.
63. Nelson KB, Grether JK, Croen LA, et al.: Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation. Ann Neurol 2001, 49:597-606.
64. Kemper TL, Bauman M: Neuropathology of infantile autism. J Neuropathol Exp Neurol 1998, 57:645-652.
65. Bauman M, Kemper TL: Histoanatomic observations of the brain in early infantile autism. Neurology 1985, 35:866-874.
66. Kemper TL, Bauman ML: Neuropathology of infantile autism. Mol Psychiatry 2002, 7(suppl 2):S12-S13.
67. Casanova MF, Buxhoeveden DP, Switala AL, Roy E: Minicolumnar pathology in autism. Neurology 2002, 58:428-432.
68. Casanova MF, Buxhoeveden DP, Switala AE, Roy E: Asperger's syndrome and cortical neuropathology. J Child Neurol 2002, 17:142-145.
69. Kornack DR, Rakic P: Radial and horizontal deployment of clonally related cells in the primate neocortex: relationship to distinct mitotic lineages. Neuron 1995, 15:311-321.
70. Buxhoeveden DP, Casanova MF: The minicolumn hypothesis in neuroscience. Brain 2002, 125:935-951.
71. Casanova MF, Buxhoeveden DP, Cohen M, et al.: Minicolumnar pathology in dyslexia. Ann Neurol 2002, 52:108-110.
72. Pickett J: Current investigations in autism brain tissue research. J Autism Dev Disord 2001, 31:521-527.
73. Blatt GJ, Fitzgerald CM, Guptill JT, et al.: Density and distribution of hippocampal neurotransmitter receptors in autism: an autoradiographic study. J Autism Dev Disord 2001, 31:537-543.
74. Junaid MA, Pullarkat RK: Proteomic approach for the elucidation of biological defects in autism. J Autism Dev Disord 2001, 31:557-560.
75. Whitaker-Azmitia PM: Serotonin and brain development: role in human developmental diseases. Brain Res Bull 2001, 56:479-485.
76. Barreto Medeiros JM, Cabral Filho JE, De Souza SL, et al.: Early malnourished rats are not affected by anorexia induced by a selective serotonin reuptake inhibitor in adult life. Nutr Neurosci 2002, 5:211-214.
77. Chugani DC, Muzik O, Behen M, et al.: Developmental changes in brain serotonin synthesis capacity in autistic and nonautistic children. Ann Neurol 1999, 45:287-295.
78. Tordjman S, Gutknecht L, Carlier M, et al.: Role of the serotonin transporter gene in the behavioral expression of autism. Mol Psychiatry 2001, 6:434-439.
79. Carlsson ML: Hypothesis: is infantile autism a hypoglutamatergic disorder? Relevance of glutamate-serotonin interactions for pharmacotherapy. J Neural Transm 1998, 105:525-535.
80. Donovan SL, Mamounas LA, Andrews AM, et al.: GAP-43 is critical for normal development of the serotonergic innervation in forebrain. J Neurosci 2002, 22:3543-3552.
81. Blue ME, Erzurumlu RS, Jhaveri S: A comparison of pattern formation by thalamocortical and serotonergic afferents in the rat barrel field cortex. Cereb Cortex 1991, 1:380-389.
82. Bennett-Clarke CA, Leslie MJ, Lane RD, Rhoades RW: Effect of serotonin depletion on vibrissa-related patterns of thalamic afferents in the rat's somatosensory cortex. J Neurosci 1994, 14:7594-7607.
83. Cases O, Vitalis T, Seif I, et al.: Lack of barrels in the somatosensory cortex of monoamine oxidase A- deficient mice: role of a serotonin excess during the critical period. Neuron 1996, 16:297-307.
84. Lauder JM, Sze PY, Krebs H: Maternal influences on tryptophan hydroxylase activity in embryonic rat brain. Dev Neurosci 1981, 4:291-295.
85. Lauder JM, Wallace JA, Krebs H: Roles for serotonin in neuroembryogenesis. Adv Exp Med Biol 1981, 133:477-506.
86. Martineau J, Barthelemy C, Jouve J, et al.: Monoamines (serotonin and catecholamines) and their derivatives in infantile autism: age-related changes and drug effects. Dev Med Child Neurol 1992, 34:593-603.
87. Chugani DC, Muzik O, Rothermel R, et al.: Altered serotonin synthesis in the dentatothalamocortical pathway in autistic boys. Ann Neurol 1997, 42:666-669.
88. Chugani DC: Role of altered brain serotonin mechanisms in autism. Mol Psychiatry 2002, 7(suppl 2):S16-S17.
89. Jamain S, Quach H, Quintana-Murci L, et al.: Y chromosome haplogroups in autistic subjects. Mol Psychiatry 2002, 7:217-219.
90. Roper SN, Eisenschenk S, King MA: Reduced density of parvalbumin- and calbindin D28-immunoreactive neurons in experimental cortical dysplasia. Epilepsy Res 1999, 37:63-71.
91. Benes FM, McSparren J, Bird ED, et al.: Deficits in small interneurons in prefrontal and cingulate cortices of schizophrenic and schizoaffective patients. Arch Gen Psychiatry 1991, 48:996-1001.
92. Leckman JF, Riddle MA: Tourette's syndrome: when habit-forming systems form habits of their own? Neuron 2000, 28:349-354.
93. Stubbs EG, Ash E, Williams CP: Autism and congenital cytomegalovirus. J Autism Dev Disord 194, 14:183-189.
94. Gillberg IC: Autistic syndrome with onset at age 31 years: herpes encephalitis as a possible model for childhood autism. Dev Med Child Neurol 1991, 33:920-924.
95. Van Gent T, Heijnen CJ, Treffers PD: Autism and the immune system. J Child Psychol Psychiatry 1997, 38:337-349.
96. Fombonne E: The epidemiology of autism: a review. Psychol Med 1999, 29:769-786.
97. O'Leary JJ, Uhlmann V, Wakefield AJ: Measles virus and autism. Lancet 2000, 356:772.
98. Peltola H, Patja A, Leinikki P, et al.: No evidence for measles, mumps, and rubella vaccine-associated inflammatory bowel disease or autism in a 14-year prospective study. Lancet 1998, 351:1327-1328.
99. Taylor B, Miller E, Farrington CP, et al.: Autism and measles, mumps, and rubella vaccine: no epidemiological evidence for a causal association. Lancet 1999, 353:2026-2029.
100. Dales L, Hammer SJ, Smith NJ: Time trends in autism and in MMR immunization coverage in California. JAMA 2001, 285:1183-1185.
101. Kaye JA, Mar Melero-Montes M, Jick H: Mumps, measles, and rubella vaccine and the incidence of autism recorded by general practitioners: a time trend analysis. BMJ 2001, 322:460-463.
102. Halsey NA, Hyman SL: Measles-mumps-rubella vaccine and autistic spectrum disorder: report from the New Challenges in Childhood Immunizations Conference convened in Oak Brook, Illinois, June 12-13, 2000. Pediatrics 2001, 107:E84.