Gene × environment interactions in autism spectrum disorders: Role of epigenetic mechanisms

Frontiers in Psychiatry

Volumn 5, Issue AUG, 2014, Pages

  Tordjman, Sylvie ^a,b   Somogyi, Eszter ^a   Coulon, Nathalie ^a   Kermarrec, Solenn ^a,b   Cohen, David ^c   Bronsard, Guillaume ^d   Bonnot, Olivier ^a   Weismann Arcache, Catherine ^e   Botbol, Michel ^a,f   Lauth, Bertrand ^g   Ginchat, Vincent ^c   Roubertoux, Pierre ^h   Barburoth, Marianne ^a   Kovess, Viviane ⁱ   Geoffray, Marie Maude ^j   Xavier, Jean ^c  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b UNIVERSITÉ DE RENNES 1   (France)

^c CNRS   (France)

^d TIMONE HOSPITAL   (France)

^e UNIVERSITÉ DE ROUEN   (France)

^f UNIVERSITÉ DE BRETAGNE OCCIDENTALE   (France)

^g LANDSPITALI UNIVERSITY HOSPITAL   (Iceland)

^h INSERM   (France)

ⁱ UNIVERSITÉ PARIS DESCARTES   (France)

^j Service Universitaire de Psychiatrie de l'Enfant et de l'Adolescent Hospitalier Le Vinatier   (France)

more..

Author keywords

Autistic spectrum disorders; Environment; Epigenetics; Gene environment interactions; Multidisciplinary; Multifactorial

Indexed keywords

VALPROIC ACID;

ARTICLE; AUTISM; CHROMOSOME DISORDER; EARLY INTERVENTION; ENVIRONMENTAL FACTOR; EPIGENETICS; EPISTASIS; FAMILY STUDY; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE ENVIRONMENT INTERACTION; HEREDITY; HUMAN; MULTIFACTORIAL INHERITANCE; NONHUMAN; PATHOGENESIS; PERINATAL PERIOD; PRENATAL DRUG EXPOSURE; PRENATAL PERIOD; RISK ASSESSMENT; TWINS;

EID: 84905653860     PISSN: None     EISSN: 16640640     Source Type: Journal    
DOI: 10.3389/fpsyt.2014.00053     Document Type: Article

References (217)

1. Vargas DL, Nascimbene C, Krishan C, Zimmerman AW, Pardo CA. Neuroglial activation and neuroinflammation in the brain of patients with autism. Ann Neurol (2005) 57:67-81. doi: 10.1002/ana.20315
2. Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, et al. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics (2010) 125(4):e727-35. doi:10.1542/peds.2009-1684
3. Reddy KS. Cytogenetic abnormalities and fragile-X syndrome in autism spectrum disorders. BMC Med Genet (2005) 6:3. doi:10.1186/1471-2350-6-3
4. Vorstman JA, Staal WG, van Daalen E, van Engeland H, Hochstenbach PF, Franke L. Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry (2006) 11:18-28. doi:10.1038/sj.mp.4001757
5. Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 82(2):477-88. doi:10.1016/j.ajhg.2007.12.009
6. Lintas C, Persico AM. Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist. J Med Genet (2009) 46(1):1-8. doi:10.1136/jmg.2008.060871
7. Miles JH. Autism spectrum disorders-a genetics review. Genet Med (2011) 13(4):278-94. doi:10.1097/GIM.0b013e3181ff67ba
8. Gardener H, Spiegelman D, Buka SL. Perinatal and neonatal risk factors for autism: a comprehensive meta-analysis. Pediatrics (2011) 128(2):344-55. doi:10.1542/peds.2010-1036
9. Hallmayer J, Cleveland S, Torres A, Phillips J, Cohen B, Torigoe T, et al. Genetic heritability and shared environmental factors among twin pairs with autism. Arch Gen Psychiatry (2011) 68(11):1095-102. doi:10.1001/archgenpsychiatry.2011.76
10. Abrahams BS, Geschwind DH. Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet (2008) 9:341-55. doi:10.1038/nrg2346
11. Bill BR, Geschwind DH. Genetic advances in autism: heterogeneity and convergence on shared pathways. Curr Opin Genet Dev (2009) 19:271-8. doi:10.1016/j.gde.2009.04.004
12. Muhle R, Trentacoste SV, Rapin I. The genetics of autism. Pediatrics (2004) 113(5):e472-86.
13. State MW, Levitt P. The conundrums of understanding genetic risks for autism spectrum disorders. Nat Neurosci (2011) 14(12):1499-506. doi:10.1038/nn.2924
14. Devlin B, Scherer SW. Genetic architecture in autism spectrum disorder. Curr Opin Genet Dev (2012) 22:229-37. doi:10.1016/j.gde.2012.03.002
15. Fleurette F, Gepner B, Soares-Boucaud I. L'autisme. Paris: ANDEM/Service des etudes (1994).
16. Fombonne E. Epidemiology of pervasive developmental disorders. Pediatr Res (2009) 65(6):591-8. doi:10.1203/PDR.0b013e31819e7203
17. Kogan MD, Blumberg SJ, Schieve LA, Boyle CA, Perrin JM, Ghandour RM, et al. Prevalence of parent-reported diagnosis of autism spectrum disorder among children in the US, 2007. Pediatrics (2009) 124(5):1395-403. doi:10.1542/peds.2009-1522
18. Hertz-Picciotto I, Delwiche L. The rise in autism and the role of age at diagnosis. Epidemiology (2009) 20(1):84-90. doi:10.1097/EDE.0b013e3181902d15
19. Fisch GS. Nosology and epidemiology in autism: classification counts. Am J Med Genet C Semin Med Genet (2012) 160C:91-103. doi:10.1002/ajmg.c.31325
20. Fisch GS. Autism and epistemology III: child development, behavioral stability, and reliability of measurement. Am J Med Genet A (2012) 158A:969-79. doi:10.1002/ajmg.a.35269
21. Tordjman S, Gutknecht L, Carlier M, Spitz E, Antoine C, Slama F, et al. Role of the serotonin transporter gene in the behavioral expression of autism. Mol Psychiatry (2001) 6:434-9. doi:10.1038/sj.mp.4000873
22. Landa RJ. Diagnosis of autism spectrum disorders in the first 3 years of life. Nat Clin Pract Neurol (2008) 4(3):138-47. doi:10.1038/ncpneuro0731
23. Lauritsen MB, Pedersen CB, Mortensen PB. Effects of familial risk factors and place of birth on the risk of autism: a nationwide register-based study. J Child Psychol Psychiatry (2005) 46(9):963-71.
24. Selkirk CG, McCarthy VP, Lian F, Schimmenti L, Leroy BS. Parents' perceptions of autism spectrum disorder etiology and recurrence risk and effects of their perceptions on family planning: recommendations for genetic counselors. J Genet Couns (2010) 18:507-19. doi:10.1007/s10897-009-9233-0
25. Ritvo ER, Freeman BJ, Pingree C, Mason-Brothers A, Jorde L, Jenson WR, et al. The UCLA-University of Utah epidemiologic survey of autism: prevalence. Am J Psychiatry (1989) 146(2):194-9.
26. Carlier M, Roubertoux PL. Psychopathologie et génétique. Mode d'emploi. In: Widlöcher D, editor. Traité de Psychopathologie. Paris: PUF (1994). p. 586-613.
27. Gillberg C, Gillberg IC, Steffenburg S. Siblings and parents of children with autism: a controlled population-based study. Dev Med Child Neurol (1992) 34(5):389-98. doi:10.1111/j.1469-8749.1992.tb11450.x
28. Todd RD, Hudziak JJ. Genetics of autism. Curr Opin Psychiatr (1993) 6:486-8.
29. Folstein SE, Rutter ML. Infantile autism: a genetic study of 21 twin pairs. J Child Psychol Psychiatry (1977) 18(4):297-321. doi:10.1111/j.1469-7610.1977.tb00443.x
30. Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, Yuzda E, et al. Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med (1995) 25:63-77. doi:10.1017/S0033291700028099
31. Ritvo ER, Spence MA, Freeman BJ, Mason-Brothers A, Mo A, Marazita ML. Evidence for autosomal recessive inheritance in 46 families with multiple incidences of autism. Am J Psychiatry (1985) 142(2):187-92.
32. Smalley SL, Asarnow RF, Spence MA. Autism and genetics. A decade of research. Arch Gen Psychiatry (1988) 45(10):953-61.
33. Steffenburg S, Gillberg C, Hellgren L, Andersson L, Gillberg IC, Jakobson G, et al. A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. J Child Psychol Psychiatry (1989) 30:405-16.
34. Rosenberg RE, Law JK, Yenokyan G, McGready J, Kaufmann WE, Law PA. Characteristics and concordance of autism spectrum disorders among 277 twin pairs. Arch Pediatr Adolesc Med (2009) 163(10):907-14. doi:10.1001/archpediatrics.2009.98
35. Nordenbæk C, Jørgensen M, Kyvik KO, Bilenberg N. A Danish population-based twin study on autism spectrum disorders. Eur Child Adolesc Psychiatry (2014) 23(1):35-43. doi:10.1007/s00787-013-0419-5
36. Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, et al. Strong association of de novo copy number mutations with autism. Science (2007) 316:445-9. doi:10.1126/science.1138659
37. Iossifov I, Ronemus M, Levy D, Wang Z, Hakker I, Rosenbaum J, et al. De novo gene disruptions in children on the autistic spectrum. Neuron (2012) 74(2):285-99. doi:10.1016/j.neuron.2012.04.009
38. Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature (2012) 485(7397):242-5. doi:10.1038/nature11011
39. O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 485(7397):246-50. doi:10.1038/nature10989
40. Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature (2012) 485:237-41. doi:10.1038/nature10945
41. Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, et al. Using whole-exome sequencing to identify inherited causes of autism. Neuron (2013) 77:259-73. doi:10.1016/j.neuron.2012.11.002
42. Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, et al. Common genetic variants, acting additively, are a major source of risk for autism. Mol Autism (2012) 3(1):9. doi:10.1186/2040-2392-3-9
43. Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 466:368-72. doi:10.1038/nature09146
44. Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, De-Luca MD, et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron (2011) 70:863-85. doi:10.1016/j.neuron.2011.05.002
45. Cross-Disorder Group of the Psychiatric Genomics Consortium. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 45(9):984-94. doi:10.1038/ng.2711
46. Smoller JW, Craddock N, Kendler K, Lee PH, Neale BM, Nurnberger JI, et al. Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. Lancet (2013) 381(9875):1371-9. doi:10.1016/S0140-6736(12)62129-1
47. Anckarsäter H, Lundstrom S, Kollberg L, Kerekes N, Palm C, Carlstrom E, et al. The child and adolescent twin study in Sweden (CATSS). Twin Res Hum Genet (2011) 14(6):495-508. doi:10.1375/twin.14.6.495
48. Anckarsäter H. Beyond categorical diagnostics in psychiatry: scientific and medicolegal implications. Int J Law Psychiatry (2010) 33:59-65. doi:10.1016/j.ijlp.2009.12.001
49. Schanen NC. Epigenetics of autism spectrum disorders. Hum Mol Genet (2006) 15(Suppl 2):R138-50. doi:10.1093/hmg/ddl213
50. Voineagu I, Wang X, Johnston P, Lowe JK, Tian Y, Horvath S, et al. Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature (2011) 474:380-4. doi:10.1038/nature10110
51. Hegmann JP, Possidente B. Estimating genetic correlations from inbred strains. Behav Genet (1981) 11:103-14. doi:10.1007/BF01065621
52. Gardener H, Spiegelman D, Buka SL. Prenatal risk factors for autism: comprehensive meta-analysis. Br J Psychiatry (2009) 196:416-7. doi:10.1192/bjp.bp.108.051672
53. Barnevik-Olsson M, Gillberg C, Fernell E. Prevalence of autism in children of Somali origin living in Stockholm: brief report of an at-risk population. Dev Med Child Neurol (2008) 50(8):598-601. doi:10.1111/j.1469-8749.2010.03812.x
54. Fountain C, Bearman P. Risk as social context: immigration policy and autism in California. Sociol Forum (Randolph N J) (2011) 26(2):215-40. doi:10.1111/j.1573-7861.2011.01238.x
55. Haglund NG, Källén KB. Risk factors for autism and Asperger syndrome. Perinatal factors and migration. Autism (2011) 15(2):163-83. doi:10.1177/1362361309353614
56. Keen DV, Reid FD. Armone, D. Autism, ethnicity and maternal immigration. Br J Psychiatry (2012) 196(4):274-81. doi:10.1192/bjp.bp.109.065490
57. Magnusson C, Rai D, Goodman A, Lundberg M, Idring S, Svensson A, et al. Migration and autism spectrum disorder: population-based study. Br J Psychiatry (2012) 201:109-15. doi:10.1192/bjp.bp.111.095125
58. Schieve LA, Boulet SL, Blumberg SJ, Kogan MD, Yeargin-Allsopp M, Boyle CA, et al. Association between parental nativity and autism spectrum disorder among US-born non-Hispanic white and Hispanic children, 2007 National Survey of Children's Health. Disabil Health J (2012) 5(1):18-25. doi:10.1016/j.dhjo.2011.09.001
59. Lord C. Fetal and sociocultural environments and autism. Am J Psychiatry (2013) 170(4):355-8. doi:10.1176/appi.ajp.2013.13010078
60. Gillberg IC, Gillberg C. Autism in immigrants: a population-based study from Swedish rural and urban areas. J Intellect Disabil Res (1996) 40(1):24-31. doi:10.1111/j.1365-2788.1996.tb00599.x
61. Bromley RL, Mawer G, Clayton-Smith J, Baker GA. Autism spectrum disorders following in utero exposure to antiepileptic drugs. Neurology (2008) 71:1923-4. doi:10.1212/01.wnl.0000339399.64213.1a
62. Bromley RL, Mawer GE, Briggs M, Cheyne C, Clayton-Smith J, García-Fiñana M, et al. The prevalence of neurodevelopmental disorders in children prenatally exposed to antiepileptic drugs. J Neurol Neurosurg Psychiatry (2013) 84(6):637-43. doi:10.1136/jnnp-2012-304270
63. Newschaffer CJ, Croen LA, Daniels J, Giarelli E, Grether JK, Levy SE, et al. The epidemiology of autism spectrum disorders. Annu Rev Public Health (2007) 28:235-58.
64. Rogers EJ. Has enhanced folate status during pregnancy altered natural selection and possibly Autism prevalence? A closer look at a possible link. Med Hypotheses (2008) 71:406-10. doi:10.1016/j.mehy.2008.04.013
65. Surén P, Roth C, Bresnahan M, Haugen M, Hornig M, Hirtz D, et al. Association between maternal use of folic acid supplements and risk of autism spectrum disorders in children. JAMA (2013) 309(6):570-7. doi:10.1001/jama.2012.155925
66. Berry RJ, Crider KS, Yeargin-Allsopp M. Periconceptional folic acid and risk of autism spectrum disorders. JAMA (2013) 309(6):611-3. doi:10.1001/jama.2013.198
67. Vahabzadeh A, McDougle CJ. Maternal folic acid supplementation and risk of autism. JAMA (2013) 309(21):2208. doi:10.1001/jama.2013.4876
68. Pu D, Shen Y, Wu J. Association between MTHFR gene polymorphisms and the risk of autism spectrum disorders: a meta-analysis. Autism Res (2013) 6(5):384-92. doi:10.1002/aur.1300
69. Stromberg B, Dahlquist G, Ericson A, Finnstrom O, Koster M, Stjernqvist K. Neurological sequelae in children born after in-vitro fertilisation: a population-based study. Lancet (2002) 359:461-5. doi:10.1016/S0140-6736(02)07674-2
70. Odom LN, Segars J. Imprinting disorders and assisted reproductive technology. Curr Opin Endocrinol Diabetes Obes (2010) 17(6):517-22.
71. Hvidtjørn D, Grove J, Schendel D, Schieve LA, Svaerke C, Ernst E, et al. Risk of autism spectrum disorders in children born after assisted conception: a population-based follow-up study. J Epidemiol Community Health (2011) 65(6):497-502. doi:10.1136/jech.2009.093823
72. Zachor DA, Ben Itzchak E. Assisted reproductive technology and risk for autism spectrum disorder. Res Dev Disabil (2011) 32(6):2950-6. doi:10.1016/j.ridd.2011.05.007
73. Lehti V, Brown AS, Gissler M, Rihko M, Suominen A, Sourander A. Autism spectrum disorders in IVF children: a national case-control study in Finland. Hum Reprod (2013) 28(3):812-8. doi:10.1093/humrep/des430
74. Sandin S, Nygren KG, Iliadou A, Hultman CM, Reichenberg A. Autism and mental retardation among offspring born after in vitro fertilization. JAMA (2013) 310(1):75-84. doi:10.1001/jama.2013.7222
75. Guinchat V, Thorsen P, Laurent C, Cans C, Bodeau N, Cohen D. Pre-peri-, and neonatal risk factors for autism. Acta Obstet Gynecol Scand (2012) 91(3):287-300. doi:10.1111/j.1600-0412.2011.01325.x
76. Bilder D, Pinborough-Zimmerman J, Miller J, McMahon W. Prenatal, perinatal, and neonatal factors associated with autism spectrum disorders. Pediatrics (2009) 123(5):1293-300. doi:10.1542/peds.2008-0927
77. Mason-Brothers A, Ritvo ER, Pingree C, Petersen PB, Jenson WR, McMahon WM, et al. The UCLA-University of Utah epidemiologic survey of autism: prenatal, perinatal, and postnatal factors. Pediatrics (1990) 86(4):514-9.
78. Brimacombe M, Ming X, Lamendola M. Prenatal and birth complications in autism. Matern Child Health J (2007) 11(1):73-9. doi:10.1007/s10995-006-0142-7
79. Hultman CM, Sparen P, Cnattingius S. Perinatal risk factors for infantile autism. Epidemiology (2002) 13(4):417-23. doi:10.1097/00001648-200207000-00009
80. Maimburg RD, Vaeth M, Schendel DE, Bech BH, Olsen J, Thorsen P. Neonatal jaundice: a risk factor for infantile autism? Paediatr Perinat Epidemiol (2008) 22(6):562-8. doi:10.1111/j.1365-3016.2008.00973.x
81. Maimburg RD, Bech BH, Vaeth M, Moller-Madsen B, Olsen J. Neonatal jaundice, autism, and other disorders of psychological development. Pediatrics (2010) 126(5):872-8. doi:10.1542/peds.2010-0052
82. Buchmayer S, Johansson S, Johansson A, Hultman CM, Sparen P, Cnattingius S. Can association between preterm birth and autism be explained by maternal or neonatal morbidity? Pediatrics (2009) 124(5):e817-25. doi:10.1542/peds.2008-3582
83. Tordjman S, Pichard N, Anderson GM, Touitou Y. Nocturnal urinary excretion of melatonin in children and adolescents with autistic disorder. Biol Psychiatry (2005) 57:134-8. doi:10.1016/j.biopsych.2004.11.003
84. Tordjman S, Anderson GM, Bellissant E, Botbol M, Charbuy H, Camus F, et al. Day and nighttime excretion of 6-sulphatoxymelatonin in adolescents and young adults with autistic disorder. Psychoneuroendocrinology (2012) 37(12):1990-7. doi:10.1016/j.psyneuen.2012.04.013
85. Tordjman S, Najjar I, Bellissant E, Anderson GM, Barburoth M, Cohen D, et al. Advances in the research of melatonin in autism spectrum disorders: literature review and new perspectives. Int J Mol Sci (2013) 14:20508-42. doi:10.3390/ijms141020508
86. Windham GC, Zhang L, Gunier R, Croen LA, Grether JK. Autism spectrum disorders in relation to distribution of hazardous air pollutants in the San Francisco bay area. Environ Health Perspect (2006) 114(9):1438-44. doi:10.1289/ehp.9120
87. Kalkbrenner AE, Daniels JL, Chen JC, Poole C, Emch M, Morrissey J. Perinatal exposure to hazardous air pollutants and autism spectrum disorders at age 8. Epidemiology (2010) 21(5):631-41. doi:10.1097/EDE.0b013e3181e65d76
88. Volk HE, Hertz-Picciotto I, Delwiche L, Lurmann F, McConnell R. Residential proximity to freeways and autism in the CHARGE study. Environ Health Perspect (2011) 119(6):873-7. doi:10.1289/ehp.1002835
89. Currie J, Neidell M, Schmieder JF. Air pollution and infant health: lessons from New Jersey. J Health Econ (2009) 28(3):688-703. doi:10.1016/j.jhealeco.2009.02.001
90. Hansen CA, Barnett AG, Pritchard G. The effect of ambient air pollution during early pregnancy on fetal ultrasonic measurements during mid-pregnancy. Environ Health Perspect (2008) 116(3):362-9. doi:10.1289/ehp.10720
91. Davis DA, Bortolato M, Godar SC, Sander TK, Iwata N, Pakbin P, et al. Prenatal exposure to urban air nanoparticles in mice causes altered neuronal differentiation and depression-like responses. PLoS One (2013) 8(5):e64128. doi:10.1371/journal.pone.0064128
92. Volk HE, Lurmann F, Penfold B, Hertz-Picciotto I, McConnel R. Traffic-related air pollution, particulate matter, and autism. JAMA Psychiatry (2013) 70(1):71-7. doi:10.1001/jamapsychiatry.2013.266
93. Perera FP, Whyatt R, Hoepner L, Wang S, Camann D, Rauh V. Prenatal air-borne polycyclic aromatic hydrocarbon exposure and child IQ at age 5 years. Pediatrics (2009) 124(2):e195-202. doi:10.1542/peds.2008-3506
94. Rai D, Lee BK, Dalman C, Golding J, Lewis G, Magnusson C. Parental depression, maternal antidepressant use during pregnancy, and risk of autism spectrum disorders: population based case-control study. BMJ (2013) 346:f2059. doi:10.1136/bmj.f2059
95. Croen LA, Grether JK, Yoshiba CK, Odouli R, Hendrick V. Antidepressant use during pregnancy and childhood autism spectrum disorders. Arch Gen Psychiatry (2011) 68:1104-12. doi:10.1001/archgenpsychiatry.2011.73
96. Daniels K, Lewin S, Practice Policy Group. Translating research into maternal health care policy: a qualitative case study of the use of evidence in policies for the treatment of eclampsia and pre-eclampsia in South Africa. Health Res Policy Syst (2008) 6:12. doi:10.1186/1478-4505-6-12
97. Yirmiya N, Shaked M. Psychiatric disorders in parents of children with autism: a meta-analysis. J Child Psychol Psychiatry (2005) 46(1):69-83. doi:10.1111/j.1469-7610.2004.00334.x
98. Hoksbergen R, ter Laak J, Rijk K, van Dijkum C, Stoutjesdijk F. Post-institutional autistic syndrome in Romanian adoptees. J Autism Dev Disord (2005) 35:615-23. doi:10.1007/s10803-005-0005-x
99. Rutter M, Andersen-Wood L, Beckett C, Bredenkamp D, Castle J, Groothues C, et al. Quasi-autistic patterns following severe early global privation. English and Romanian Adoptees (ERA) study team. J Child Psychol Psychiatry (1999) 40(4):537-49.
100. Rutter M, Kreppner J, Croft C, Murrin M, Colvert E, Beckett C, et al. Early adolescent outcomes of institutionally deprived and non-deprived adoptees. III. Quasi-autism. J Child Psychol Psychiatry (2007) 48:1200-7. doi:10.1111/j.1469-7610.2006.01688.x
101. Lord C. Diagnostic instruments in autism spectrum disorders 2nd ed. In: Cohen DJ, Volkmar FR, editors. Handbook of Autism and Pervasive Developmental Disorders. New York: John Wiley and Sons Inc (1997). p. 460-83.
102. Brown R, Hobson RP, Lee A, Stevenson J. Are there "autistic-like" features in congenitally blind children? J Child Psychol Psychiatry (1997) 38(6):693-703. doi:10.1111/j.1469-7610.1997.tb01696.x
103. Mukaddes NM, Kilincaslan A, Kucukyazici G, Sevketoglu T, Tuncer S. Autism in visually impaired individuals. Psychiatry Clin Neurosci (2007) 61(1):39-44.
104. Steffenburg S. Neuropsychiatric assessment of children with autism: a population-based study. Dev Med Child Neurol (1991) 33(6):495-511. doi:10.1111/j.1469-8749.1991.tb14915.x
105. Donaldson AI, Heavner KS, Zwolan TA. Measuring progress in children with autism spectrum disorder who have cochlear implants. Arch Otolaryngol (2004) 130:666-71. doi:10.1001/archotol.130.5.666
106. Daneshi A, Hassanzadeh S. Cochlear implantation in prelingually deaf with additional disability. J Laryngol Otol (2007) 121(7):635-8.
107. Rosenhall U, Nordin V, Sandström M, Ahlsen G, Gillberg C. Autism and hearing loss. J Autism Dev Disord (1999) 29(5):349-57. doi:10.1023/A:1023022709710
108. O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (2012) 338(6114):1619-22. doi:10.1126/science.1227764
109. Tordjman S, Maillhes AS. Developmental disorder in body image occurring in early infancy: a common dimension shared by schizophrenia and autism? Neuropsychiatr Enfance Adolesc (2009) 57(1):6-13. doi:10.1016/j.neurenf.2008.09.005
110. Johansson M, Wentz E, Fernell E, Strömland K, Miller MT, Gillberg C. Autistic spectrum disorders in Moëbius sequence: a comprehensive study of 25 cases. Dev Med Child Neurol (2001) 43:338-45. doi:10.1017/S0012162201000627
111. Johansson M, Billstedt E, Danilesson S, Strömland K, Miller M, Granström G. Autism spectrum disorders and underlying brain mechanisms in the oculoauriculovertebral spectrum. Dev Med Child Neurol (2007) 49:280-8. doi:10.1111/j.1469-8749.2007.00280.x
112. Hartshorne TS, Grialou TL, Parker KR. Autistic-like behavior in CHARGE syndrome. Am J Med Genet A (2005) 133A:257-61. doi:10.1002/ajmg.a.30541
113. Johansson M, Råstam M, Billstedt E, Danielsson S, Strömland K, Miller M, et al. Autism spectrum disorders and underlying brain pathology in CHARGE association. Dev Med Child Neurol (2006) 48:40-50. doi:10.1017/S0012162206000090
114. Smith IM, Nichols SL, Issekutz K, Blake K, Canadian Paediatric Surveillance Program. Behavioral profiles and symptoms of autism in CHARGE syndrome: preliminary Canadian epidemiological data. Am J Med Genet A (2005) 133A:248-56. doi:10.1002/ajmg.a.30544
115. Blake KD, Prasad C. CHARGE syndrome. Orphanet J Rare Dis (2006) 1:34. doi:10.1186/1750-1172-1-34
116. Johansson M, Gillberg C, Råstam M. Autism spectrum conditions in individuals with Möbius sequence, CHARGE syndrome and oculo-auriculo-vertebral spectrum: diagnostic aspects. Res Dev Disabil (2010) 31:9-24. doi:10.1016/j.ridd.2009.07.011
117. Sutcliffe JS, Nurmi EL, Lombroso PJ. Genetics of childhood disorders: XLVII. Autism, part 6: duplication and inherited susceptibility of chromosome 15q11-q13 genes in autism. J Am Acad Child Adolesc Psychiatry (2003) 42(2):253-6. doi:10.1097/00004583-200302000-00021
118. Chamberlain SJ, Chen PF, Ng KY, Bourgois-Rocha F, Lemtiri-Chlieh F, Levine ES, et al. Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes. Proc Natl Acad Sci U S A (2010) 107(1):17668-73. doi:10.1073/pnas.1004487107
119. Rangasamy S, D'Mello SR, Narayanan V. Epigenetics, autism spectrum, and neurodevelopmental disorders. Neurotherapeutics (2013) 10(4):742-56. doi:10.1007/s13311-013-0227-0
120. Steffenburg S, Gillberg CL, Seffenburg U, Kyllerman M. Autism in Angelman syndrome: a population-based study. Pediatr Neurol (1996) 14:131-6. doi:10.1016/0887-8994(96)00011-2
121. Peters SU, Beaudet AL, Madduri N, Bacino CA. Autism in Angelman syndrome: implications for autism research. Clin Genet (2004) 66(6):530-6.
122. Veltman MW, Thompson RJ, Roberts SE, Thomas NS, Whittington J, Bolton PF. Prader-Willi syndrome - a study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders. Eur Child Adolesc Psychiatry (2004) 13(1):42-50. doi:10.1007/s00787-004-0354-6
123. Descheemaeker MJ, Govers V, Vermeulen P, Fryns JP. Pervasive developmental disorders in Prader-Willi syndrome: the Leuven experience in 59 subjects and controls. Am J Med Genet A (2006) 140(11):1136-42. doi:10.1002/ajmg.a.31235
124. Hogart A, Wu D, LaSalle JM, Schanen NC. The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13. Neurobiol Dis (2010) 38(2):181-91. doi:10.1016/j.nbd.2008.08.011
125. Kau AS, Tierney E, Bukelis I, Stump MH, Kates WR, Trescher WH, et al. Social behavior profile in young males with fragile X syndrome: characteristics and specificity. Am J Med Genet A (2004) 126A(1):9-17. doi:10.1002/ajmg.a.20218
126. Belmonte MK, Bourgeron T. Fragile X syndrome and autism at the intersection of genetic and neural networks. Nat Neurosci (2006) 9(10):1221-5. doi:10.1038/nn1765
127. Loesch DZ, Bui QM, Dissanayake C, Clifford S, Gould E, Bulhak-Paterson D, et al. Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X. Neurosci Biobehav Rev (2007) 31(3):315-26.
128. Harris SW, Hessl D, Goodlin-Jones B, Ferranti J, Bacalman S, Barbato I, et al. Autism profiles of males with fragile X syndrome. Am J Ment Retard (2008) 113(6):427-38. doi:10.1352/2008.113:427-438
129. Meloni I, Bruttini M, Longo I, Mari F, Rizzolio F, D'Adamo P, et al. A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Am J Hum Genet (2000) 67(4):982-5.
130. Smeets E, Terhal P, Casaer P, Peters A, Midro A, Schollen E, et al. Rett syndrome in females with CTS hot spot deletions: a disorder profile. Am J Med Genet A (2005) 132A:117-20. doi:10.1002/ajmg.a.30410
131. Young DJ, Bebbington A, Anderson A, Ravine D, Ellaway C, Kulkarni A, et al. The diagnosis of autism in a female: could it be Rett syndrome? Eur J Pediatr (2008) 167:661-9. doi:10.1007/s00431-007-0569-x
132. Bregmen JD, Volkmar FR. Autistic social dysfunction and Down syndrome. J Am Acad Child Adolesc Psychiatry (1988) 27:440-1. doi:10.1097/00004583-198807000-00011
133. Ghaziuddin M. Autism in Down syndrome: family history correlates. J Intellect Disabil Res (1997) 41:87-91. doi:10.1111/j.1365-2788.1997.tb00681.x
134. Moss J, Howlin P. Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population. J Intellect Disabil Res (2009) 53(10):852-73. doi:10.1111/j.1365-2788.2009.01197.x
135. Skuse DH, James RS, Bishop DVM, Coppin B, Dalton P, Aamodt-Leeper G, et al. Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function. Nature (1997) 387:705-8. doi:10.1038/42706
136. Soorya L, Kolevzon A, Zweifach J, Lim T, Dobry Y, Schwartz L, et al. Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. Mol Autism (2013) 4(1):18. doi:10.1186/2040-2392-4-18
137. Kent L, Bowdin S, Kirby GA, Cooper WN, Maher ER. Beckwith Wiedemann syndrome: a behavioral phenotype-genotype study. Am J Med Genet B Neuropsychiatr Genet (2008) 147B(7):1295-7. doi:10.1002/ajmg.b.30729
138. Gagliardi C, Bonaglia MC, Selicorni A, Borgatti R, Giorda R. Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion. J Med Genet (2003) 40:526-30. doi:10.1136/jmg.40.7.526
139. Edelmann L, Prosnitz A, Pardo S, Bhatt J, Cohen N, Lauriat T, et al. An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism. J Med Genet (2007) 44(2):136-43. doi:10.1136/jmg.2006.044537
140. Rogers SJ, Wehner DE, Hagerman R. The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders. J Dev Beh Pediatrics (2001) 22:409-17.
141. Glasson EJ, Bower C, Petterson B, de Klerk N, Chaney G, Hallmayer JF. Perinatal factors and the development of autism: a population study. Arch Gen Psychiatry (2004) 61(6):618-27. doi:10.1001/archpsyc.61.6.618
142. Miles JH, Hillman RE. Value of a clinical morphology examination in autism. Am J Med Genet (2000) 91(4):245-53.
143. Miles JH, Takahashi TN, Bagby S, Sahota PK, Vaslow DF, Wang CH, et al. Essential versus complex autism: definition of fundamental prognostic subtypes. Am J Med Genet A (2005) 135(2):171-80.
144. Cohen D, Pichard N, Tordjman S, Baumann C, Burglen L, Excoffier E, et al. Specific genetic disorders and autism: clinical contribution towards their identification (Review). J Autism Dev Disord (2005) 35(1):103-16.
145. Jacquemont ML, Sanlaville D, Redon R, Raoul O, Cormier-Daire V, Lyonnet S, et al. Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J Med Genet (2006) 43(11):843-9. doi:10.1136/jmg.2006.043166
146. Delorme R, Ey E, Toro R, Leboyer M, Gillberg C, Bourgeron T. Progress toward treatments for synaptic defects in autism. Nat Med (2013) 19(6):685-94. doi:10.1038/nm.3193
147. Kuhl PK. Brain mechanisms in early language acquisition. Neuron (2010) 67(5):713-27. doi:10.1016/j.neuron.2010.08.038
148. Hensch TK. Critical period plasticity in local cortical circuits. Nat Rev Neurosci (2005) 6:877-88. doi:10.1038/nrn1787
149. Damodaran LP, Arumugam G. Urinary oxidative stress markers in children with autism. Redox Rep (2011) 16(5):216-22. doi:10.1179/1351000211Y.0000000012
150. McGinnis WR. Oxidative stress in autism. Altern Ther Health Med (2004) 10(6):22-36; quiz 37, 92.
151. Ming X, Stein TP, Brimacombe M, Johnson WG, Lambert GH, Wagner GC. Increased excretion of a lipid peroxidation biomarker in autism. Prostaglandins Leukot Essent Fatty Acids (2005) 73(5):379-84. doi:10.1016/j.plefa.2005.06.002
152. Bechara EG, Didiot MC, Melko M, Davidovic L, Bensaid M, Martin P, et al. A novel function for fragile X mental retardation protein in translational activation. PLoS Biol (2009) 7(1):e1000016. doi:10.1371/journal.pbio.1000016
153. de Diego-Otero Y, Romero-Zerbo Y, El Bekay R, Decara J, Sanchez L, Fonseca RF, et al. Alpha-tocopherol protects against oxidative stress in the fragile X knockout mouse: an experimental therapeutic approach for the Fmr1 deficiency. Neuropsychopharmacology (2009) 34(4):1011-26. doi:10.1038/npp.2008.152
154. el Bekay R, Romero-Zerbo Y, Decara J, Sanchez-Salido L, Del Arco-Herrera I, Fonseca RF, et al. Enhanced markers of oxidative stress, altered antioxidants and NADPH-oxidase activation in brains from fragile X mental retardation 1-deficient mice, a pathological model for fragile X syndrome. Eur J Neurosci (2007) 26(11):3169-80. doi:10.1111/j.1460-9568.2007.05939.x
155. Lacaria M, Spencer C, Gu W, Paylor R, Lupski JR. Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits. Hum Mol Genet (2012) 21(14):3083-96. doi:10.1093/hmg/dds124
156. Nakamura K, Sekine Y, Ouchi Y, Tsujii M, Yoshikawa E, Futatsubashi M, et al. Brain serotonin and dopamine transporter bindings in adults with high-functioning autism. Arch Gen Psychiatry (2010) 67(1):59-68. doi:10.1001/archgenpsychiatry.2009.137
157. Bagot RC, Meaney MJ. Epigenetics and the biological basis of gene X interactions. J Am Acad Child Adolesc Psychiatry (2010) 49(8):752-71. doi:10.1016/j.jaac.2010.06.001
158. Gonzalez A, Lovic V, Ward GR, Wainwright PE, Fleming AS. Intergenerational effects of complete maternal deprivation and replacement stimulation on maternal behaviour and emotionality in female rats. Dev Psychobiol (2001) 38(1):11-32. doi:10.1002/1098-2302(2001)38:1<11::AID-DEV2>3.0.CO;2-B
159. Jutapakdeegul N, Casalotti SO, Govitrapong P, Kotchabhakdi N. Postnatal touch stimulation acutely alters corticosterone levels and glucocorticoid receptor gene expression in the neonatal rat. Dev Neurosci (2003) 25(1):26-33. doi:10.1159/000071465
160. Champagne FA, Meaney MJ. Stress during gestation alters postpartum maternal care and the development of the offspring in a rodent model. Biol Psychiatry (2006) 59(12):1227-35. doi:10.1016/j.biopsych.2005.10.016
161. Fenoglio KA, Brunson KL, Avishai-Eliner S, Stone BA, Kapadia BJ, Baram TZ. Enduring, handling-evoked enhancement of hippocampal memory function and glucocorticoid receptor expression involves activation of the corticotropin-releasing factor type 1 receptor. Endocrinology (2005) 146(9):4090-6. doi:10.1210/en.2004-1285
162. Graignic-Philippe R, Dayan J, Chokron S, Jacquet AY, Tordjman S. Effects of prenatal stress on fetal and child development: a critical literature review. Neurosci Biobehav Rev (2014) 43:137-62. doi:10.1016/j.neubiorev.2014.03.022
163. Franklin TB, Russig H, Weiss IC, Gräff J, Linder N, Michalon A, et al. Epigenetic transmission of the impact of early stress across generations. Biol Psychiat (2010) 68:408-15.
164. Grafodatskaya D, Chung B, Szatmari P, Weksberg R. Autism spectrum disorders and epigenetics. J Am Acad Child Adolsec Psychiatry (2010) 49(8):794-809. doi:10.1016/j.jaac.2010.05.005
165. Chapman JB, Cutler MG. Effects of sodium valproate on development and social behaviour in the Mongolian gerbil. Neurotoxicol Teratol (1989) 11:193-8. doi:10.1016/0892-0362(89)90058-5
166. Voorhees CV. Behavioral teratogenicity of valporic acid: selective effects on behavior after prenatal exposure to rats. Psychopharmacology (1987) 92:173-9. doi:10.1007/BF00177911
167. Wu Y, Wang L. The effects of antiepileptic drugs on spatial learning and hippocampal protein kinase C (in immature rats). Brain Dev (2002) 24:82-7. doi:10.1016/S0387-7604(02)00012-8
168. Ingram JL, Peckham SM, Tisdale B, Rodier PM. Prenatal exposure of rats to valproic acid reproduces the cerebellar anomalies associated with autism. Neurotoxicol Teratol (2000) 22:319-24. doi:10.1016/S0892-0362(99)00083-5
169. Markram K, Rinaldi T, La Mendola D, Sandi C, Markram H. Abnormal fear conditioning and amygdala processing in an animal model of autism. Neuropsychopharmacology (2008) 33(4):901-12.
170. Wagner GC, Reuhl KR, Cheh M, McRae P, Halladay AK. A new neurobehavioral model of autism in mice: pre- and postnatal exposure to sodium valproate. J Autism Dev Disord (2006) 36(6):779-93. doi:10.1007/s10803-006-0117-y
171. Schneider T, Przewlocki R. Behavioral alterations in rats prenatally exposed to valproic acid: animal model of autism. Neuropsychopharmacology (2005) 30(1):80-9. doi:10.1038/sj.npp.1300518
172. Schneider T, Turczak J, Przewlocki R. Environmental enrichment reverses behavioral alterations in rats prenatally exposed to valproic acid: issues for a therapeutic approach in autism. Neuropsychopharmacology (2006) 31(1):36-46.
173. Tordjman S, Drapier D, Bonnot O, Graignic R, Fortes S, Cohen D, et al. Animal models relevant to schizophrenia and autism: validity and limitations. Behav Genet (2007) 37(1):61-78. doi:10.1007/s10519-006-9120-5
174. Phiel CJ, Zhang F, Huang EY, Guenther MG, Lazar MA, Klein PS. Histone deacetylase is a direct target of valproic acid, a potent anticonvulsivant, mood stabilizer, and teratogen. J Biol Chem (2001) 276:36734-41. doi:10.1074/jbc.M101287200
175. Milutinovic S, D'Alessio AC, Detich N, Szyf M. Valproate Induces widespread epigenetic reprogramming which involves demethylation of specific genes. Carcinogenesis (2007) 28(3):560-71.
176. Oh JE, Chambwe N, Klein S, Gal J, Andrews S, Gleason G, et al. Differential gene body methylation and reduced expression of cell adhesion and neurotransmitter receptor genes in adverse maternal environment. Transl Psychiatry (2013) 3:e218. doi:10.1038/tp.2012.130
177. Gleason G, Zupan B, Toth M. Maternal genetic mutations as gestational and early life influences in producing psychiatric disease-like phenotypes in mice. Front Psychiatry (2011) 2:25. doi:10.3389/fpsyt.2011.00025
178. Green JG, McLaughlin KA, Berglund PA, Gruber MJ, Sampson NA, Zaslavsky AM, et al. Childhood adversities and adult psychiatric disorders in the national comorbidity survey replication I: associations with first onset of DSM-IV disorders. Arch Gen Psychiatry (2010) 67(2):113-23. doi:10.1001/archgenpsychiatry.2009.186
179. Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 39:319-28. doi:10.1038/ng1985
180. Kim HG, Kishikawa S, Higgins AW, Seong IS, Donovan DJ, Shen Y, et al. Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet (2008) 82:199-207. doi:10.1016/j.ajhg.2007.09.011
181. Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature (2009) 459:528-33. doi:10.1038/nature07999
182. Wisniowiecka-Kowalnik B, Nesteruk M, Peters SU, Xia Z, Cooper ML, Savage S, et al. Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay. Am J Med Genet B Neuropsychiatr Genet (2010) 153B:983-93. doi:10.1002/ajmg.b.31064
183. Anderson GM, Gutknecht L, Cohen DJ, Brailly-Tabard S, Cohen JH, Ferrari P, et al. Serotonin transporter promoter variants in autism: functional effects and relationship to platelet hyperserotonemia. Mol Psychiatry (2002) 7(8):831-6.
184. Amaral DG, Schumann CM, Nordahl CW. Neuroanatomy of autism. Trends Neurosci (2008) 31:137-45. doi:10.1016/j.tins.2007.12.005
185. Whitney ER, Kemper TL, Bauman ML, Rosene DL, Blatt GJ. Cerebellar Purkinje cells are reduced in a subpopulation of autistic brains: a stereological experiment using calbindin-D28k. Cerebellum (2008) 7:406-16. doi:10.1007/s12311-008-0043-y
186. Benayed R, Choi J, Matteson PG, Gharani N, Kamdar S, Brzustowicz LM, et al. Autism-associated haplotype affects the regulation of the homeobox gene, ENGRAILED 2. Biol Psychiatry (2009) 66(10):911-7. doi:10.1016/j.biopsych.2009.05.027
187. James SJ, Shpyleva S, Melnyk S, Pavliv O, Pogribny IP. Complex epigenetic regulation of engrailed-2 (EN-2) homeobox gene in the autism cerebellum. Transl Psychiatry (2013) 3:e232. doi:10.1038/tp.2013.8
188. Eran A, Li JB, Vatalaro K, McCarthy J, Rahimov F, Collins C, et al. Comparative RNA editing in autistic and neurotypical cerebella. Mol Psychiatry (2013) 18(9):1041-8. doi:10.1038/mp.2012.118
189. Cook EH, Courchesne RY, Cox NJ, Lord C, Gonen D, Guter SJ, et al. Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers. Am J Hum Genet (1998) 62(5):1077-83. doi:10.1086/301832
190. Schroer RJ, Phelan MC, Michaelis RC, Crawford EC, Skinner SA, Cuccaro M, et al. Autism and maternally derived aberrations of chromosome 15q. Am J Med Genet (1998) 76(4):327-36. doi:10.1002/(SICI)1096-8628(19980401)76:43.0.CO;2-M
191. Bolton PF, Dennis NR, Browne CE, Thomas NS, Veltman MW, Thompson RJ, et al. The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders. Am J Med Genet (2001) 105(8):675-85. doi:10.1002/ajmg.1551
192. Patten SA, Jacobs-McDaniels NL, Zaouter C, Drapeau P, Albertson RC, Moldovan F. Role of Chd7 in zebrafish: a model for CHARGE syndrome. PLoS One (2012) 7(2):e31650. doi:10.1371/journal.pone.0031650
193. 3a in neurons. Nature (2011) 481:185-9. doi:10.1038/nature10726
194. Mabb AM, Judson MC, Zylka MJ, Philpot BD. Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes. Trends Neurosci (2011) 34(6):293-303. doi:10.1016/j.tins.2011.04.001
195. 3a. Hum Mol Genet (2012) 21(13):3001-12. doi:10.1093/hmg/dds130
196. Horsthemke B, Wagstaff J. Mechanisms of imprinting of the Prader-Willi/Angelman region. Am J Med Genet A (2008) 146:2041-52. doi:10.1002/ajmg.a.32364
197. Buiting K. Prader-Willi and Angelman syndrome. Am J Med Genet C Semin Med Genet (2010) 154C:365-76. doi:10.1002/ajmg.c.30273
198. Cassidy SB, Schwartz S, Miller H, Driscoll DJ. Prader-Willi syndrome. Genet Med (2012) 14:10-26. doi:10.1038/gim.0b013e31822bead0
199. Dölen G, Carpenter RL, Ocain TD, Bear MF. Mechanism-based approaches to treating fragile X. Pharmacol Ther (2010) 127:78-93. doi:10.1016/j.pharmthera.2010.02.008
200. McLennan Y, Polussa J, Tassone F, Hagerman R. Fragile X syndrome. Curr Genomics (2011) 12(3):216-24. doi:10.2174/138920211795677886
201. Bar-Nur O, Caspi I, Benvenisty N. Molecular analysis of FMR 1 reactivation in fragile-X induced pluripotent stem cells and their neuronal derivatives. J Mol Cell Biol (2012) 4(3):180-3. doi:10.1093/jmcb/mjs007
202. Hagerman R, Lauterborn J, Au J, Berry-Kravis E. Fragile X syndrome and targeted treatment trials. Results Probl Cell Differ (2012) 54:297-335. doi:10.1007/978-3-642-21649-7_17
203. Tabolacci E, Chiurazzi P. Epigenetics, fragile X syndrome and transcriptional therapy. Am J Med Genet A (2013) 161(11):2797-808. doi:10.1002/ajmg.a.36264
204. Martinowich K, Hattori D, Wu H, Fouse S, He F, Hu Y, et al. DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation. Science (2003) 302(5646):890-3.
205. Gadalla K, Bailey ME, Cobb SR. MeCP2 and Rett syndrome: reversibility and potential avenues for therapy. Biochem J (2011) 14:439. doi:10.1042/BJ20110648
206. Bahi-Buisson N, Bienvenu T. CDKL5-related disorders: from clinical description to molecular genetics. Mol Syndromol (2012) 2(3-5):137-52.
207. Garg SK, Lioy DT, Cheval H. Systemic delivery of MeCP2 rescues behavioral and cellular deficits in female mouse models of Rett syndrome. J Neurosci (2013) 33:13612-20. doi:10.1523/JNEUROSCI.1854-13.2013
208. Jiang J, Jing Y, Cost GJ, Chiang JC, Kolpa HJ, Cotton AM, et al. Translating dosage compensation to trisomy 21. Nature (2013) 500(7462):296-300. doi:10.1038/nature12394
209. 3 deletion syndrome patients. Nature (2013) 503(7475):267-71. doi:10.1038/nature12618
210. Phelan K, McDermid HE. The 22q13.3 deletion syndrome (Phelan-McDermid syndrome). Mol Syndromol (2012) 2(3-5):186-201.
211. Peca J, Feliciano C, Ting JT, Wang W, Wells ME, Venkatraman TN, et al. Shank3 mutant mice display autistic-like behaviours and striatal dysfunction. Nature (2011) 472(7344):437-42. doi:10.1038/nature09965
212. DeBaun MR, Niemitz EL, Feinberg AP. Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19. Am J Hum Genet (2003) 72:156-60. doi:10.1086/346031
213. Smith AC, Choufani S, Ferreira JC, Weksberg R. Growth regulation, imprinted genes, and chromosome 11p15.5. Pediatr Res (2007) 61:43-7. doi:10.1203/pdr.0b013e3180457660
214. Weksberg R, Shuman C, Beckwith JB. Beckwith-Wiedemann syndrome. Eur J Hum Genet (2010) 18(1):8-14. doi:10.1038/ejhg.2009.106
215. Makeyev AV, Enkhmandakh B, Hong SH, Joshi P, Shin DG, Bayarsaihan D. Diversity and complexity in chromatin recognition by TFII-I transcription factors in pluripotent embryonic stem cells and embryonic tissues. PLoS One (2012) 7(9):e44443. doi:10.1371/journal.pone.0044443
216. Tordjman S, Anderson GM, Botbol M, Toutain A, Sarda P, Carlier M, et al. Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype. PLoS One (2012) 7(3):e30778. doi:10.1371/journal.pone.0030778
217. Tordjman S, Anderson GM, Cohen D, Kermarrec S, Carlier M, Touitou Y, et al. Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome. Mol Autism (2013) 4(1):29. doi:10.1186/2040-2392-4-29