Genetic and brain structure anomalies in autism spectrum disorders : Towards an understanding of the aetiopathogenesis?;Genetische und hirnstrukturelle anomalien bei autismus-spektrum- störungen : Eine brücke zum verständnis der ätiopathogenese?

Nervenarzt

Volumn 82, Issue 5, 2011, Pages 618-627

  Nickl Jockschat, T ^a   Michel, T M ^a  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

Author keywords

Autism spectrum disorders; Brain structure; Genes; MRI

Indexed keywords

AUTISM; BRAIN MALFORMATION; BRAIN SIZE; CELL MIGRATION; GENETIC ASSOCIATION; HUMAN; MOLECULAR GENETICS; NERVE CELL; NERVE CELL PLASTICITY; NEUROANATOMY; NEUROIMAGING; NEUROTRANSMISSION; NUCLEAR MAGNETIC RESONANCE IMAGING; REVIEW;

BRAIN; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; FRONTAL LOBE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MAGNETIC RESONANCE IMAGING; NEURONAL PLASTICITY; NEURONS; ORGAN SIZE; SYNAPTIC TRANSMISSION; TEMPORAL LOBE;

EID: 79959990500     PISSN: 00282804     EISSN: 14330407     Source Type: Journal    
DOI: 10.1007/s00115-010-2989-5     Document Type: Review

References (135)

1. Abell F, Krams M, Ashburner J et al (1999) The neuroanatomy of autism: a voxel-based whole brain analysis of structural scans. Neuroreport 10(8):1647-1651 (Pubitemid 29354287)
2. Abrahams BS, Tentler D, Perederiy JV et al (2007) Genome-wide analyses of human perisylvian cerebral cortical patterning. Proc Natl Acad Sci U S A 104(45):17849-17854 (Pubitemid 350210923)
3. Abrahams BS, Geschwind DH (2008) Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet 9(5):341-355 (Pubitemid 351556064)
4. Alarcon M, Cantor LM, Liu J et al (2002) Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families. Am J Hum Genet 70(1):60-71 (Pubitemid 34031698)
5. Alarcon M, Abrahams BS, Stone JL et al (2008) Linkage, association and gene-expression analyses identify CNTNAP2 as an autism susceptibility gene. Am J Hum Genet 82(1):150-159 (Pubitemid 351726082)
6. Amir RE, Veyver IB van den, Wan M et al (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23(2):185-188 (Pubitemid 29455390)
7. Arking DE, Cutler DJ, Brune CW et al (2008) A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am J Hum Genet 82(1):160-164 (Pubitemid 351726090)
8. Autism Genome Project Consortium (2007) Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 39(3):319-328
9. Aylward EH, Minshew NJ, Goldstein G et al (1999) MRI volumes of amygdala and hippocampus in non-mentally retarded autistic adolescents and adults. Neurology 53(9):2145-2150
10. Bailey A, LeCouteur A, Gottesman I et al (1995) Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 25(1):63-77
11. Bakkaloglu B, O'Roak BJ, Louvi A et al (2008) Molecular cytogenetic analysis and resequencing of contactin-associated protein-like 2 in autism spectrum disorders. Am J Hum Genet 82(1):165-173 (Pubitemid 351735952)
12. Barnea-Goraly N, Kwon H, Menon V et al (2004) White matter structure in autism: preliminary evidence from diffusion tensor imaging. Biol Psychiatry 55(3):323-326 (Pubitemid 38117172)
13. Bartholomeusz HH, Courchesne E, Karns CM (2002) Relationship between head circumference and brain volume in healthy normal toddlers, children and adults. Neuropediatrics 33(5):239-241 (Pubitemid 36134197)
14. Ben Bashat D, Kronfeld-Duenias V, Zachor DA et al (2007) Accelerated maturation of white matter in young children with autism: a high b value DWI study. Neuroimage 37(1):40-47 (Pubitemid 47068985)
15. Birchmeier C, Gherardi E (1998) Developmental roles of HGF/SF and its receptor, the c-Met tyrosine kinase. Trends Cell Biol 8(10):404-410 (Pubitemid 28458706)
16. Bishop DV, Maybery M, Maley A et al (2004) Using self-report to identify the broad phenotype in parents of children with autistic spectrum disorders: a study using the Autism-Spectrum Quotient. J Child Psychol Psychiatry 45(8):1431-1436 (Pubitemid 39445610)
17. Blasi F, Bacchelli E, Pesaresi G et al (2006) Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection. Am J Med Genet B Neuropsychiatr Genet 141B(3):220-221
18. Blomquist HK, Bohman M, Edvinsson SO et al (1985) Frequency of the fragile X syndrome in infantile autism. A Swedish multicenter study. Clin Genet 27(2):113-117
19. Bloss CS, Courchesne E (2007) MRI neuroanatomy in young girls: a preliminary study. J Am Acad Child Adolesc Psychiatry 46(4):515-523 (Pubitemid 46622761)
20. Boeckers TM, Brockmann J, Kreutz MR et al (2002) ProSAP/SHANK proteins - a family of higher order organizing molecules of the postsynaptic density with an emerging role in human neurological disease. J Neurochem 81(5):903-910 (Pubitemid 34809273)
21. Boger-Meggido I, Shaw DW, Friedman SD et al (2006) Corpus callosum morphometrics in young children with autism spectrum disorder. J Autism Dev Disord 36(6):733-739 (Pubitemid 44284977)
22. Bolton P, Macdonald H, Pickles A et al (1994) A case-control family history study of autism. J Child Psychol Psychiatry 35(2):311-322
23. Bonora E, Beyer KS, Lamb JA et al (2003) Analysis of reelin as a candidate gene for autism. Mol Psychiatry 8(10):885-892 (Pubitemid 37346543)
24. Brambilla P, Hardan A, di Nemi SU et al (2003) Brain anatomy and development in autism: review of structural MRI studies. Brain Res Bull 61(6):557-569 (Pubitemid 37163538)
25. Butler MG, Dasouki MJ, Zhou XP et al (2005) Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet 42:318-321 (Pubitemid 40523954)
26. Buxbaum JD, Silverman JM, Smith CJ et al (2002) Association between a GABARB3 polymorphism and autism. Mol Psychiatry 7(3):311-316
27. Buxbaum JD, Cai G, Chaste P et al (2007) Mutation screening of the PTEN gene in patients with autism spectrum disorders andmacrocephaly. Am J Med Genet B Neuropsychiatr Genet 144:484-491 (Pubitemid 46983159)
28. Campbell DB, Sutcliffe JS, Ebert PJ et al (2006) A genetic variant that disrupts MET transcription is associated with autism. Proc Natl Acad Sci U S A 103(45):16834-16839 (Pubitemid 44737339)
29. Campbell DB, D'Oronzio R, Garbett K et al (2007) Disruption of cerebral cortex MET signaling in autism spectrum disorder. Ann Neurol 62(3):243-250 (Pubitemid 47525400)
30. Carper RA, Courchesne E (2000) Inverse correlation between frontal lobe and cerebellum sizes in children with autism. Brain 123:836-844 (Pubitemid 30162732)
31. Carper RA, Moses P, Tigue ZD et al (2002) Cerebral lobes in autism: early hyperplasia and abnormal age effects. Neuroimage 16(4):1038-1051
32. Carper RA, Courchesne E (2005) Localized enlargement of the frontal cortex in autism. Biol Psychiatry 57(2):126-133 (Pubitemid 40094712)
33. Chen GK, Kono N, Geschwind DH et al (2006) Quantitative trait locus analysis of nonverbal communication in autism spectrum disorder. Mol Psychiatry 11(2):214-220 (Pubitemid 43164623)
34. Christian SL, Brune CW, Sudi J et al (2008) Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry 63(12):1111-1117
35. Comoletti D, De Jaco A, Jennings LL et al (2004) The Arg451Cys- neuroligin-3 mutation associated with autism reveals a defect in protein processing. J Neurosci 24(40):4889-4893 (Pubitemid 38668214)
36. Cook EH Jr, Courchesne R, Lord C et al (1998) Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers. Am J Hum Genet 62(5):1077-1083 (Pubitemid 28199008)
37. Cook EH Jr, Scherer SW (2008) Copy-number variations associated with neuropsychiatric conditions. Nature 455(7215):919-923
38. Coon H (2006) Current perspectives on the genetic analysis of autism. Am J Med Genet C Semin Med Genet 142C(1):24-32
39. Courchesne E, Press GA, Yeung-Courchesne R (1993) Parietal lobe abnormalities detected with MR in patients with infantile autism. AJR Am J Roentgenol 160:387-393 (Pubitemid 23059238)
40. Courchesne E, Pierce K, Schumann CM et al (2007) Mapping early brain development in autism. Neuron 56(2):399-413
41. Devlin B, Bennett P, Dawson G et al (2004) Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA network. Am J Med Genet B Neuropsychiatr Genet 126B(1):46-50 (Pubitemid 38420120)
42. Domes G, Kumbier E, Herpertz-Dahlmann B et al (2008) Autismus und soziale Kognition. Nervenarzt 79(3):261-274
43. Durand CM, Betancur C, Boeckers TM et al (2007) Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 39(1):25-27 (Pubitemid 46026497)
44. European Chromosome 16 Tuberous Sclerosis Consortium (1993) Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75(7):1305-1315
45. Fang P, Lev-Lehmann E, Tsai TF et al (1999) The spectrum of mutations in UBE3A causing Angelman syndrome. Hum Mol Genet 8(1):129-135 (Pubitemid 29039058)
46. Fatemi SH, Snow AV, Stary JM et al (2005) Reelin signaling is impaired in autism. Biol Psychiatry 57(7):777-787 (Pubitemid 40487922)
47. Feng J, Schroer R, Yan J et al (2006) High frequency of neurexin 1beta signal peptide structural variants in patients with autism. Neurosci Lett 409(1):10-13 (Pubitemid 44585112)
48. Fombonne E, Tidmarsh L (2003) Epidemologic data on Asperger disorder. Child Adolesc Psychiatr Clin N Am 12:15-21
49. Fombonne E (2005) Epidemiology of autistic disorder and other pervasive development disorders. J Clin Psychiatry 66:3-8
50. Forster E, Jossin Y, Zhao S et al (2006) Recent progress in understanding the role of Reelin in radial neuronal migration, with specific emphasis on the dentate gyrus. Eur J Neurosci 23(4):901-909 (Pubitemid 43344685)
51. Gaffney GR, Kuperman S, Tsai LY et al (1987) Midsagittal magnetic resonance imaging of autism. Br J Psychiatry 151:831-835
52. Gaffney GR, Tsai LY, Kuperman S et al (1987) Cerebellar structure in autism. Am J Dis Child 141(12):1330-1332 (Pubitemid 18004887)
53. Gail Williams P, Sears LL, Allard A (2004) Sleep problems in children with autism. J Sleep Res 13(3):265-268 (Pubitemid 39331187)
54. Garber HJ, Ritvo ER (1992) Magnetic resonance imaging of the posterior fossa in autistic adults. Am J Psychiatry 149(2):245-247
55. Gauthier J, Bonnel A, St-Onge J et al (2005) NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population. Am J Med Genet B Neuropsychiatr Genet 132B(1):74-75 (Pubitemid 40066200)
56. Goffin A, Hoefsloot LH, Bosgoed E et al (2001) PTEN mutation in a family with Cowden syndrome and autism. Am J Med Genet 105:521-524 (Pubitemid 32729819)
57. Graf ER, Zhang X, Jin SX et al (2004) Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins Cell 119(7):1013-1026
58. Hardan AY, Minshew NJ, Mallikarjuhn M et al (2001) Brain volume in autism. J Child Neurol 16(6):421-424 (Pubitemid 32631738)
59. Hazlett HC, Poe MD, Gerig G et al (2005) Magnetic resonance imaging and head circumference study of brain size and autism: birth through age 2 years. Arch Gen Psychiatry 62(12):1366-1376 (Pubitemid 41746614)
60. Hazlett HC, Poe M, Gerig G et al (2006) Cortical white and grey brain tissue volume in adolescents and adults with autism. Biol Psychiatry 59(1):1-6 (Pubitemid 43005229)
61. Haznedar MM, Buchsbaum MS, Wei TC et al (2000) Limbic circuitry in patients with autism spectrum disorders studied with positron emission tomography and magnetic resonance imaging. Am J Psychiatry 152(12):1994-2001
62. Holttum JR, Minshew NJ, Sanders RS et al (1992) Magnetic resonance imaging of the posterior fossa in autism. Biol Psychiatry 32(12):1091-1101 (Pubitemid 23029111)
63. Howard MA, Cowell PE, Boucher J et al (2000) Convergent neuroanatomical and behavioural evidence of an amygdala hypothesis in autism. Neuroreport 11:2931-2935
64. Hrdlicka M (2008) Structural neuroimaging in autism. Neuro Endocrinol Lett 29(3):281-286
65. Jamain S, Quach H, Betancur C et al (2003) Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 34(1):27-29 (Pubitemid 36548785)
66. Jorde LB, Hasstedt SJ, Ritvo ER et al (1991) Complex segregation analysis of autism. Am J Hum Genet 49(5):932-938 (Pubitemid 21891739)
67. Kanner L (1943) Autistic disturbances of affective contact. Nerv Child 2:217-250
68. Kates WR, Burnette CP, Eliez S et al (2004) Neuroanatomic variation in monozygotic twin pairs discordant for the narrow phenotype in autism. Am J Psychiatry 161(3):539-546 (Pubitemid 38326110)
69. Kircher TT, Liddle PF, Brammer MJ et al (2001) Neural correlates of formal thought disorder in schizophrenia: preliminary findings from a functional magnetic resonance imaging study. Arch Gen Psychiatry 58(8):769-774 (Pubitemid 32717801)
70. Krebs MO, Betancur C, Leroy S et al (2002) Absence of association between a polymorphic GGC repeat in the 5′ untranslated region of the reelin gene and autism. Mol Psychiatry 7(7):801-804 (Pubitemid 34984960)
71. Kumar RA, KaraMohamed S, Sudi J et al (2008) Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet 17(4):628-638 (Pubitemid 351201774)
72. Kwon CH, Zhu X, Zhang J et al (2001) PTEN regulates neuronal soma size: a mouse model of Lhermitte-Duclos disease. Nat Genet 29:404-411 (Pubitemid 34326690)
73. Lalande M, Calciano MA (2007) Molecular epigenetics of Angelman syndrome. Cell Mol Life Sci 64:947-960 (Pubitemid 46597759)
74. Landa RJ, Holman KC, Garrett-Mayer E (2007) Social and communication development in toddlers with early and later diagnosis of autism spectrum disorders. Arch Gen Psychiatry 64(7):853-864 (Pubitemid 47026381)
75. Landa RJ (2008) Diagnosis of autism spectrum disorders in the first 3 years of life. Nat Clin Pract Neurol 4(3):138-147
76. Lang UE, Puls I, Muller DJ et al (2007) Molecular mechanisms of schizophrenia. Cell Physiol Biochem 20(6):687-702 (Pubitemid 350059714)
77. Lauritsen MB, Pedersen CB, Mortensen PB (2005) Effects of familial risk factors and place of birth on the risk of autism: a nationwide register-based study. J Child Psychol Psychiatry 46(9):963-971 (Pubitemid 44192664)
78. Levitt JG, Blanton RE, Smalley S et al (2003) Cortical sulcal maps in autism. Cereb Cortex 13(7):728-735 (Pubitemid 36758959)
79. Lonard DM, O'Malley BW (2006) The expanding cosmos of nuclear receptor coactivators. Cell 125(3):411-414
80. Lossie AC, Whitney MM, Amidon D et al (2001) Distinct phenotypes distinguish the molecular classes of Angelman syndrome. J Med Genet 38(12):834-845 (Pubitemid 34014208)
81. Malzac P, Webber H, Moncla A et al (1998) Mutation analysis of UBE3A in Angelman syndrome patients. Am J Hum Genet 62(6):1353-1360 (Pubitemid 28307104)
82. Maier W, Zobel A, Rietschel M (2003) Genetics of schizophrenia and affective disorders. Pharmacopsychiatry 36:195-202
83. Manning MA, Cassidy SB, Clericuzio C et al (2004) Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum. Pediatrics 114:451-457 (Pubitemid 39006674)
84. Marshall CR, Noor A, Vincent JB et al (2008) Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 82(2):477-488
85. Martin ER, Menold MM, Wolpert CM et al (2000) Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit genes in autistic disorder. Am J Med Genet 96(1):43-48 (Pubitemid 30077648)
86. Menold MM, Shao Y, Wolpert CM et al (2001) Association analysis of chromosome 15 gabaa receptor subunit genes in autistic disorder. J Neurogenet 15:245-259 (Pubitemid 34467884)
87. Meyer G, Varoqueaux F, Neeb A et al (2004) The complexity of PDZ-domain-mediated interactions at glutamatergic synapses: a case study on neuroligin. Neuropharmacology 47(5):724-733 (Pubitemid 39348954)
88. Moessner R, Marshall CR, Sutcliffe JS et al (2007) Contributions of SHANK3 mutations to autism spectrum disorder. Am J Hum Genet 81(6):1289-1297 (Pubitemid 350211458)
89. Nickl-Jockschat T, Rietschel M, Kircher T (2009) Korrelation zwischen Risikogenvarianten für Schizophrenie und Hirnstrukturanomalien. Nervenarzt 80(1):40-2, 44-48
90. Nowell MA, Hackney DB, Muraki AS et al (1990) Varied MR appearance in autism: fifty-three pediatric patients having the full autistic syndrome. Magn Reson Imaging 8(6):811-816
91. Nurmi EL, Bradford Y, Chen Y et al (2001) Linkage disequilibrium at the Angelman syndromegene UBE3A in autism families. Genomics 77:105-113 (Pubitemid 32826492)
92. Palmen SJ, Hulshoff Pol HE, Kemner C et al (2005) Increased grey-matter volume in medication-naive high-functioning children with autism spectrum disorder. Psychol Med 35(4):561-570 (Pubitemid 40533327)
93. Pardo CA, Eberhard CG (2007) The neurobiology of autism. Brain Pathol 17(4):434-447 (Pubitemid 47537607)
94. Persico AM, D'Agruma L, Maiorano N et al (2001) Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder. Mol Psychiatry 6(2):150-159 (Pubitemid 32187864)
95. Peters SU, Beaudet AL, Madduri N et al (2004) Autism in Angelman syndrome: implications for autism research. Clin Genet 66:530-536 (Pubitemid 39562016)
96. Pilarski R, Eng C (2004) Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome. Neuron 30:79-89
97. Piven J, Arndt S (1995) The cerebellum and autism. Neurology 45(2):398-402
98. Piven J, Arndt S, Bailey J et al (1996) Regional brain enlargement in autism: a magnetic resonance imaging study. J Am Acad Child Adolesc Psychiatry 35(4):530-536 (Pubitemid 126418617)
99. Powell EM, Mars WM, Levitt P (2001) Hepatocyte growth factor/scatter factor is a motogen for interneurons migrating from the ventral to dorsal telencephalon. Neuron 30(1):79-89 (Pubitemid 32441678)
100. Powell EM, Mühlfriedel S, Bolz J et al (2003) Differential regulation of thalamic and cortical axonal growth by hepatocyte growth factor/scatter factor. Dev Neurosci 25:197-206 (Pubitemid 37100214)
101. Qin J, Jia M, Wang L et al (2009) Association study of SHANK3 gene polymorphisms with autism in Chinese Han population. BMC Med Genet 10:61
102. Radyushkin K, Hammerschmidt K, Boretius S et al (2009) Neuroligin-3-deficient mice: model of a monogenic heritable form of autism with an olfactory deficit. Genes Brain Behav 8(4):416-425
103. Ramocki MB, Zoghbi HY (2008) Failure of neuronal homeostasis results in common neuropsychiatric phenotypes. Nature 455(7215):912-918
104. Redcay E, Courchesne E (2005) When is the brain enlarged in autism? A meta-analysis of all brain size reports. Biol Psychiatry 58(1):1-9 (Pubitemid 40909929)
105. Remschmidt H, Hebebrand J (2001) Das Asperger-Syndrom. Eine aktuelle Übersicht. Z Kinder Jugendpsychiatr Psychother 29:59-69
106. Remschmidt H, Kamp-Becker I (2007) Das Asperger-Syndrom - eine Autismus-Spektrum-Störung. Dtsch Ärztebl 104(13):A873-882
107. Remschmidt H (2008) Autismus. In: Herpertz-Dahlmann B, Resch F, Schulte-Markwort M (Hrsg) Entwicklungspsychiatrie. Biopsychologische Grundlagen und die Entwicklung psychischer Störungen. Schattauer, Stuttgart, S 373-396
108. Rice SA, Bigler ED, Cleavinger HB et al (2005) Macrocephaly, corpus callosum morphology and autism. J Child Neurol 20(1):34-41 (Pubitemid 40394266)
109. Richdale AL, Prior MR (1995) The sleep/wake rhythm in children with autism. Eur Child Adolesc Psychiatry 4(3):175-186
110. Rojas DC, Bawn SD, Benkers TL et al (2002) Smaller left hemisphere planum temporale in adults with autistic disorder. Neurosci Lett 328:237-240 (Pubitemid 34876655)
111. Ronald A, Happe F, Bolton P et al (2006) Genetic heterogeneity between the three components of the autism spectrum: a twin study. J Am Acad Child Adolesc Psychiatry 45(6):691-696
112. Saitoh O, Karns CM, Courchesne E (2001) Development of the hippocampal formation from 2 to 42 years: MRI evidence of smaller area dentata in autism. Brain 124:1317-1324 (Pubitemid 32606093)
113. Samaco RC, Hogart A, LeSalle JM (2005) Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3. Hum Mol Genet 14(4):483-492 (Pubitemid 40277464)
114. Scheffner M, Huibregtse JM, Vierstra RD et al (1993) The HPV-16 E6 and E6-AP complex functions as a ubiquitin-protein ligase in the ubiquitination of p53. Cell 75(3):495-505 (Pubitemid 23335075)
115. Sebat J, Lakshmi B, Troge J et al (2004) Large-scale copy number polymorphism in the human genome. Science 305(5683):525-528 (Pubitemid 38971344)
116. Sebat J, Lakshmi B, Malhotra D et al (2007) Strong association of de novo copy number mutations with autism. Science 316:445-449 (Pubitemid 46651493)
117. Serajee FJ, Zhong H, Mahbubul Hug AH (2006) Association of Reelin gene polymorphisms with autism. Genomics 87(1):75-83 (Pubitemid 43005104)
118. Skaar DA, Shao Y, Haines JL et al (2005) Analysis of the RELN gene as a genetic risk factor for autism. Mol Psychiatry 10(6):563-571 (Pubitemid 40897040)
119. Skuse DH (2007) Rethinking the nature of genetic vulnerability to autism spectrum disorders. Trends Genetic 23(8):387-395
120. Slavotinek AM (2008) Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet 124(1):1-17
121. Sparks BF, Friedman SD, Shaw DW et al (2002) Brain structural abnormalities in young children with autism spectrum disorder. Neurology 59(2):184-192 (Pubitemid 34779175)
122. Stanfield AC, McIntosh AM, Spencer MD et al (2008) Towards a neuroanatomy of autism: a systematic review and meta-analysis of structural magnetic resonance imaging studies. Eur Psychiatry 23(4):289-299 (Pubitemid 351938706)
123. Steffenburg S, Gillberg C, Hellgren L et al (1989) A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. J Child Psychol Psychiatry 30(3):405-416 (Pubitemid 19131643)
124. Sykes DH (2007) Rethinking the nature of genetic vulnerability to autism spectrum disorders. Trends Genetic 23(8):387-395
125. Szatmari P, Paterson AD, Zwaigenbaum L et al (2007) Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 39(3):319-328
126. Tidmarsh L, Volkmar FR (2003) Diagnosis and epidemiology of autism spectrum disorders. Can J Psychiatry 48:517-525 (Pubitemid 37280041)
127. Varoqueaux F, Aramuni G, Rawson RL et al (2006) Neuroligins determine synapse maturation and function. Neuron 51(6):741-754 (Pubitemid 44374915)
128. Vincent JB, Kolozsvari D, Roberts WS et al (2004) Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands. Am J Med Genet B Neuropsychiatr Genet 129B(1):82-84 (Pubitemid 38989074)
129. Volkmar FR, Nelson DS (1990) Seizure disorders in autism. J Am Acad Child Adolesc Psychiatry 29(1):127-129 (Pubitemid 20077239)
130. Vorstman JA, Staal WG, Daalen E van et al (2006) Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry 11(1):18-28 (Pubitemid 43251084)
131. Weiss LA, Shen Y, Korn JM et al (2008) Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 358(7):667-675 (Pubitemid 351240746)
132. Wilson HL, Crolla JA, Walker D et al (2008) Intersitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development. Eur J Hum Genet 2008 16(11):1301-1310
133. Yan J, Oliveira G, Coutinho A et al (2005) Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients. Mol Psychiatry 10(4):329-332
134. Zhang H, Liu X, Zhang C et al (2002) Reelin gene alleles and susceptibility to autism spectrum disorders. Mol Psychiatry 7(9):1012-1017 (Pubitemid 35333058)
135. Zhao X, Leotta A, Kustanovich V et al (2007) A unified genetic theory for sporadic and inherited autism. Proc Natl Acad Sci U S A 104:12831-12836 (Pubitemid 47255240)