Chapter 5. Genetic and Environmental Factors that Influence Social Cognitive Skills in ASD

Chapter 5. Genetic and Environmental Factors that Influence Social Cognitive Skills in ASD

Abdelrahman HM et al., 2014. Association of 5-HT2A receptor gene polymorphisms with gastrointestinal disorders in Egyptian children with autistic disorder. Res Dev Disabil. 36C:485-490. doi: 10.1016/j.ridd.2014.10.023.

Abrahams, BS and DH Geschwind. 2008. Advances in autism genetics: on the threshold of a new neurobiology. Nat. Rev. Genet. 9:341-355. doi: 10.1038/nrg2346

Adolphs R, et al., 2008. Distinct face-processing strategies in parents of autistic children. Curr Biol. 18(14):1090-3. doi: 10.1016/j.cub.2008.06.073.

Akintunde ME et al., 2015. Increased production of IL-17 in children with autism spectrum disorders and comorbid asthma. J Neuroimmunol. 286:33-41. doi: 10.1016/j.jneuroim.2015.07.003.

Anagnostou E et al., 2012. Intranasal oxytocin versus placebo in the treatment of adults with autism spectrum disorders: a randomized controlled trial. Mol Autism. 3(1):16. doi: 10.1186/2040-2392-3-16.

Andari E et al., 2010. Promoting social behavior with oxytocin in high-functioning autism spectrum disorders. Proc Natl Acad Sci U S A. 107(9):4389-94. doi: 10.1073/pnas.0910249107.

Anitha A et al., 2014. Zinc finger protein 804A (ZNF804A) and verbal deficits in individuals with autism. J Psychiatry Neurosci. 39(5):294-303.

Anney, R et al., 2012. Individual common variants exert weak effects on the risk for autism spectrum disorderspi. (sic) Hum Mol Genet. 21(21):4781-92. doi: 10.1093/hmg/dds301

Aoki Y et al., 2015. Oxytocin’s neurochemical effects in the medial prefrontal cortex underlie recovery of task-specific brain activity in autism: a randomized controlled trial. Mol Psychiatry. 20(4):447-53. doi: 10.1038/mp.2014.74.

Ashwood et al., 2011. Altered T cell responses in children with autism. Brain, Behavior and Immunity. 25(5):840-9

Ashwood et al., 2011. Association of impaired behaviors with elevated plasma chemokines in autism spectrum disorders. Journal of Neuroimmunology 232:106-199.

Âû, R. 2015. There’s the thing. Autistic acceptance, autism advocacy ntnoway.com/theres-this-thing/

Auyeung B et al., 2015. Oxytocin increases eye contact during a real-time, naturalistic social interaction in males with and without autism. Transl Psychiatry. 5:e507. doi: 10.1038/tp.2014.146.

Bailey A et al., 1995. Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med. 25(1):63-77.

Baron-Cohen S et al., 1985. Does the autistic child have a “theory of mind”? Cognition. 21(1):37-46.

Baron-Cohen S et al., 1994. Recognition of mental state terms. Clinical findings in children with autism and a functional neuroimaging study of normal adults. Br J Psychiatry. 165(5):640-9.

Baron-Cohen S et al., 1997. Another advanced test of theory of mind: evidence from very high functioning adults with autism or asperger syndrome. J Child Psychol Psychiatry. 38(7):813-22.

Baron-Cohen S et al., 2001. The “Reading the Mind in the Eyes” Test revised version: a study with normal adults, and adults with Asperger syndrome or high-functioning autism. J Child Psychol Psychiatry. 42(2):241-51.

Bejjani A. 2012. Elevated glutamatergic compounds in pregenual anterior cingulate in pediatric autism spectrum disorder demonstrated by 1H MRS and 1H MRSI. PLoS One. 7(7):e38786. doi: 10.1371/journal.pone.0038786.

Ben-Israel S et al., 2015. Dopamine D4 receptor polymorphism and sex interact to predict children’s affective knowledge. Front Psychol. 6:846. doi: 10.3389/fpsyg.2015.00846.

Ben-Yizhak, N. 2011. Pragmatic language and school related linguistic abilities in siblings of children with autism. J Autism Dev Disord. 41(6):750-60. doi: 10.1007/s10803-010-1096-6.

Bhalla P et al., 2010. Protective role of lithium during aluminium-induced neurotoxicity. Neurochem Int. 56(2):256-62. doi: 10.1016/j.neuint.2009.10.009.

Blasi A et al., 2015. Atypical processing of voice sounds in infants at risk for autism spectrum disorder. Cortex. 71:122-33. doi: 10.1016/j.cortex.2015.06.015.

Bölte S et al., 2011. Autistic traits and autism spectrum disorders: the clinical validity of two measures presuming a continuum of social communication skills. J Autism Dev Disord. 41(1):66-72. doi: 10.1007/s10803-010-1024-9.

Brown JA et al., 2014. Metabolic consequences of interleukin-6 challenge in developing neurons and astroglia. J Neuroinflammation. 11:183. doi: 10.1186/s12974-014-0183-6.

Brunsdon VE et al., 2014. Exploring the cognitive features in children with autism spectrum disorder, their co-twins and typically developing children within a population-based sample. J Child Psychol Psychiatry. 56(8):893-902. doi: 10.1111/jcpp.12362.

Budde MD et al., 2009. Axial diffusivity is the primary correlate of axonal injury in the experimental autoimmune encephalomyelitis spinal cord: a quantitative pixelwise analysis. J Neurosci. 29(9):2805-13. doi: 10.1523/JNEUROSCI.4605-08.2009.

Byrge L et al., 2015. Idiosyncratic brain activation patterns are associated with poor social comprehension in autism. J Neurosci. 35(14):5837-50. doi: 10.1523/JNEUROSCI.5182-14.2015.

Campbell DB et al., 2011. Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder. J Neurodev Disord. 3(2):101-12. doi: 10.1007/s11689-010-9071-2.

Campbell NG et al., 2013. Rare coding variants of the adenosine A3 receptor are increased in autism: on the trail of the serotonin transporter regulome. Mol Autism. 4(1):28. doi: 10.1186/2040-2392-4-28.

Careaga M 2010. Immune dysfunction in autism: a pathway to treatment. Neurotherapeutics. 7(3):283-92. doi: 10.1016/j.nurt.2010.05.003.

Carson DS et al., 2015. Arginine vasopressin is a blood-based biomarker of social functioning in children with autism. PLoS One. 10(7):e0132224. doi: 10.1371/journal.pone.0132224.

Chakraborti B et al., 2016. Genetic variants of MAOB affect serotonin level and specific behavioral attributes to increase autism spectrum disorder (ASD) susceptibility in males. Prog Neuropsychopharmacol Biol Psychiatry. 71:123-136. doi: 10.1016/j.pnpbp.2016.07.001.

Chen FS et al., 2011. Common oxytocin receptor gene (OXTR) polymorphism and social support interact to reduce stress in humans. Proc Natl Acad Sci U S A. 108(50):19937-42. doi: 10.1073/pnas.1113079108.

Chen Y et al., 2010. The kynurenine pathway and inflammation in amyotrophic lateral sclerosis. Neurotox Res. 18(2):132-42. doi: 10.1007/s12640-009-9129-7.

Chen YN. 2013. Effect of Thimerosal on the neurodevelopment of premature rats. World J Pediatr. 9(4):356-60. doi: 10.1007/s12519-013-0443-z.

Cheung OS et al., 2008. Revisiting the role of spatial frequencies in the holistic processing of faces. J Exp Psychol Hum Percept Perform. 34(6):1327-36. doi: 10.1037/a0011752.

Constantino JN et al., 2000. Genetic structure of reciprocal social behavior. Am J Psychiatry. 157(12):2043-5.

Dal Monte O et al., 2014. CSF and blood oxytocin concentration changes following intranasal delivery in macaque. PLoS One. 9(8):e103677. doi: 10.1371/journal.pone.0103677.

Dantzer R et al., 2014. Is there a role for glutamate-mediated excitotoxicity in inflammation-induced depression? J Neural Transm (Vienna). 121(8):925-32. doi: 10.1007/s00702-014-1187-1.

de Guzman M et al.,2016. Self-other control processes in social cognition: from imitation to empathy. Philos Trans R Soc Lond B Biol Sci. 371(1686). pii: 20150079. doi: 10.1098/rstb.2015.0079.

Deriziotis, P et al., 2014 De novo TBR1 mutations in sporadic autism disrupt protein functions. Nat Commun. 5: 4954. doi:10.1038/ncomms5954.

Di Russo F et al., 2015. Spatiotemporal brain mapping during preparation, perception and action. Neuroimage 126:1-14. doi: 10.1016/j.neuroimage.2015.11.036.

Dirscherl K et al., 2010. Luteolin triggers global changes in the microglial transcriptome leading to a unique anti-inflammatory and neuroprotective phenotype. J Neuroinflammation. 7:3. doi: 10.1186/1742-2094-7-3.

Domes G et al., 2013. Effects of intranasal oxytocin on the neural basis of face processing in autism spectrum disorder. Biol Psychiatry. 74(3):164-71. doi: 10.1016/j.biopsych.2013.02.007.

Duvall JA 2007. A quantitative trait locus analysis of social responsiveness in multiplex autism families. Am J Psychiatry. 164(4):656-62.

Elagoz-Yuksel M et al., 2016. The altered promoter methylation of oxytocin receptor gene in autism. J Neurogenet. 5:1-5.

Enard W 2011. FOXP2 and the role of cortico-basal ganglia circuits in speech and language evolution. Curr Opin Neurobiol. 21(3):415-24. doi: 10.1016/j.conb.2011.04.008.

Engel D et al., 2014. Reading the Mind in the Eyes or reading between the lines? Theory of Mind predicts collective intelligence equally well online and face-to-face. PLoS One. 9(12):e115212. doi: 10.1371/journal.pone.0115212.

Faja S et al., 2016. Early event-related potentials to emotional faces differ for adults with autism spectrum disorder and by serotonin transporter genotype. Clin Neurophysiol. 127(6):2436-47. doi: 10.1016/j.clinph.2016.02.022.

Fatemi SH et al., 2012. Consensus paper: pathological role of the cerebellum in autism. Cerebellum. 11(3):777-807. doi: 10.1007/s12311-012-0355-9.

Folstein S and M Rutter. 1977. Infantile autism: a genetic study of 21 twin pairs. J Child Psychol Psychiatry. 18(4):297-321.

Folstein, S and B. Rosen-Sheidley. 2001. Genetics of autism: complex aetiology for a heterogeneous disorder. Nat. Rev. Genet. 2:943-955. doi: 10.1038/35103559.

Fombonne, E. 2005. The changing epidemiology of autism. Journal of Applied Research in Intellectual Disabilities 18:281-294.

Frosk P et al. 2013. SCN1A mutation associated with intractable myoclonic epilepsy and migraine headache. J Child Neurol. 28(3):389-91. doi: 10.1177/0883073812443309.

Gadow KD et al., 2014. Serotonin 2A receptor gene (HTR2A) regulatory variants: possible association with severity of depression symptoms in children with autism spectrum disorder. Cogn Behav Neurol. 27(2):107-16. doi: 10.1097/WNN.0000000000000028.

Gallese V, et al. 2011. Mirror neuron forum. Perspect Psychol Sci. 6(4):369-407

Garrecht M, Austin DW, 2011. The plausibility of a role for mercury in the etiology of autism: a cellular perspective. Toxicol Environ Chem. 93(5-6):1251-1273.

Gerdts J and R Bernier. 2011. The Broader Autism Phenotype and its implications on the etiology and treatment of autism spectrum disorders. Autism Research and Treatment. Article ID 545901, 19 pp.

Gerdts JA et al., 2013. The broader autism phenotype in simplex and multiplex families. Journal of Autism and Developmental Disorders 43:1597-1605.

Gernsbacher M et al., 2008. Infant and toddler oral- and manual-motor skills predict later speech fluency in autism. J Child Psychol Psychiatry. 49:43-50. doi: 10.1111/j.1469-7610.2007.01820.x.

Gershon ES and N. Alliey-Rodriguez. 2013. New ethical issues for genetic counseling in common mental disorders. Am J Psychiatry. 170(9):968-76. doi: 10.1176/appi.ajp.2013.12121558.

Gillberg, C. and J. Wahlstrom. 1985. Chromosome abnormalities in infantile autism and other childhood psychoses: a population study of 66 cases. Dev. Med. Child Neurol. 27:293-304. doi: 10.1111/j.1469- 8749.1985.tb04539.x

Goines P et al., 2011. Autoantibodies to cerebellum in children with autism associate with behavior. Brain Behav Immun. 25(3):514-23. doi: 10.1016/j.bbi.2010.11.017.

Green L et al., 2001. Oxytocin and autistic disorder: Alterations in peptide forms. Biol Psychiatry. 50(8):609-613.

Gridley MC and R. Hoff. 2006. Do mirror neurons explain misattribution of emotions in music? Percept Mot Skills. 102(2):600-2.

Guastella AJ et al., 2010. Intranasal oxytocin improves emotion recognition for youth with autism spectrum disorders. Biol Psychiatry. 67(7):692-4. doi: 10.1016/j.biopsych.2009.09.020.

Guillemin GJ et al., 2003. Expression of the kynurenine pathway enzymes in human microglia and macrophages. Adv Exp Med Biol. 527:105-12.

Gurnot C et al., 2015. Prenatal antidepressant exposure associated with CYP2E1 DNA methylation change in neonates. Epigenetics. 10(5):361-72. doi: 10.1080/15592294.2015.1026031.

Hallmayer J., et al.,2011. Genetic heritability and shared environmental factors among twin pairs with autism. Arch Gen Psychiatry. 68:1095-102. doi: 10.1001/archgenpsychiatry.2011.76.

Hammock E et al., 2012. Examining autism spectrum disorders by biomarkers: example from the oxytocin and serotonin systems. J Am Acad Child Adolesc Psychiatry. 2012 Jul;51(7):712-721.e1. doi: 10.1016/j.jaac.2012.04.010.

Han B et al., 2015. Morphing technique reveals intact perception of object motion and disturbed perception of emotional expressions by low-functioning adolescents with Autism Spectrum Disorder. Res Dev Disabil. 47:393-404. doi: 10.1016/j.ridd.2015.09.025

Han S, et al., 2012. Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission. Nature. 489(7416):385-90. doi: 10.1038/nature11356.

Happé et al., 2006. Time to give up on a single explanation for autism. Nature Neuroscience 9:1218-1220 doi:10.1038/nn1170

Helsmoortel C et al., 2014. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet. 46(4):380-4. doi: 10.1038/ng.2899.

Hervás A et al., 2014. The involvement of serotonin polymorphisms in autistic spectrum symptomatology. Psychiatr Genet. 24(4):158-63. doi: 10.1097/YPG.0000000000000034.

Hickok G et al., 2009. Eight problems for the mirror neuron theory of action understanding in monkeys and humans. J Cogn Neurosci. 21(7):1229-43. doi: 10.1162/jocn.2009.21189

Hill AP et al., 2015. Memory in language-impaired children with and without autism. J Neurodev Disord. 7(1):19. doi: 10.1186/s11689-015-9111-z.

Hoekstra RA et al.,2010. Limited genetic covariance between autistic traits and intelligence: findings from a longitudinal twin study. Am J Med Genet B Neuropsychiatr Genet. 153B(5):994-1007. doi: 10.1002/ajmg.b.31066.

Hollander E et al., 2007. Oxytocin increases retention of social cognition in autism. Biol Psychiatry. 61(4):498-503.

Hopkins WD et al., 2014. Genetic influences on receptive joint attention in chimpanzees (Pan troglodytes). Sci Rep. 4:3774. doi: 10.1038/srep03774.

Hranilovic D et al. (2010). 5-HT2A receptor gene polymorphisms in Croatian subjects with autistic disorder. Psychiatry Res. 178(3):556-8. doi: 10.1016/j.psychres.2010.04.007.

Hultman CM et al., 2011. Advancing paternal age and risk of autism: new evidence from a population-based study and a meta-analysis of epidemiological studies. Mol Psychiatry16(12):1203-12. doi: 10.1038/mp.2010.121.

Hutman T et al., 2012. Selective visual attention at twelve months: signs of autism in early social interactions. J Autism Dev Disord. 42(4):487-98. doi: 10.1007/s10803-011-1262-5.

Huynh W et al.,2008. Post-vaccination encephalomyelitis: literature review and illustrative case. J Clin Neurosci. 15(12):1315-22. doi: 10.1016/j.jocn.2008.05.002.

Iacoboni, M. 2011. The Mirror Neuron System and Imitation. IN: Autism Spectrum Disorders (Amaral, D, Geschwind, D and G. Dawson, eds). Oxford University Press.

Israel, S et al. 2008. Molecular genetic studies of the arginine vasopressin 1a receptor (AVPR1a) and the oxytocin receptor (OXTR) in human behavior: From autism to altruism with some notes in between. Progress in Brain Research 170:435-449.

Jacob S et al., 2007. Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism. Neurosci Lett. 417(1):6-9.

Jansen LM et al., 2006. Autonomic and neuroendocrine responses to a psychosocial stressor in adults with autistic spectrum disorder. J Autism Dev Disord. 36(7):891-9.

Kazim SF et al., 2015. Sera from children with autism induce autistic features which can be rescued with a CNTF small peptide mimetic in rats. PLoS One. 10(3):e0118627. doi: 10.1371/journal.pone.0118627.

Kim SJ et al., 2002. Transmission disequilibrium testing of arginine vasopressin receptor 1A (AVPR1A) polymorphisms in autism. Mol Psychiatry 7:503-7.

Knafo A, 2007. Individual differences in allocation of funds in the dictator game associated with length of the arginine vasopressin 1a receptor RS3 promoter region and correlation between RS3 length and hippocampal mRNA. Genes, Brain and Behavior 7:266-75.

Kolevzon A et al., 2014. Self-injury in autism spectrum disorder: an effect of serotonin transporter gene promoter variants. Psychiatry Res. 220(3):987-90.

Kranz TM et al., 2016. Meta-analysis and association of two common polymorphisms of the human oxytocin receptor gene in autism spectrum disorder. Autism Res. doi: 10.1002/aur.1597.

Laabbar W et al., 2014. Chronic aluminum intoxication in rat induced both serotonin changes in the dorsal raphe nucleus and alteration of glycoprotein secretion in the subcommissural organ: Immunohistochemical study. Neurosci Lett. 577:72-6. doi: 10.1016/j.neulet.2014.06.008.

Lackner C et al., 2012. Dopamine receptor D4 gene variation predicts preschoolers’ developing theory of mind. Dev Sci. 15(2):272-80. doi: 10.1111/j.1467-7687.2011.01124.x.

Lartseva A et al., 2015. Emotional language processing in autism spectrum disorders: a systematic review. Front Hum Neurosci. 8:991. doi: 10.3389/fnhum.2014.00991.

Le Couteur, A et al.,1996. A broader phenotype of autism: the clinical spectrum in twins. Journal of Child Psychology and Psychiatry and Allied Disciplines 37:785-801.

Le Fevre AK, et al., 2013. FOXP1 mutations cause intellectual disability and a recognizable phenotype. Am J Med Genet A. 161A(12):3166-75. doi: 10.1002/ajmg.a.36174.

Lerer E et al., 2008. Association between the oxytocin receptor (OXTR) gene and autism: relationship to Vineland Adaptive Behavior Scales and cognition. Mol Psychiatry. 10:980-8.

Lim CK et al., 2015. Altered kynurenine pathway metabolism in autism: Implication for immune-induced glutamatergic activity. Autism Res.. doi: 10.1002/aur.1565.

Liu X et al., 2010. Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population. J Hum Genet. 55:137-41. doi: 10.1038/jhg.2009.140

Lloyd-Fox S et al., 2012. The emergence of cerebral specialization for the human voice over the first months of life. Soc Neurosci. 7(3):317-30. doi: 10.1080/17470919.2011.614696.

Lo ST et al., 2013. Impaired theory of mind and symptoms of Autism Spectrum Disorder in children with Prader-Willi syndrome. Res Dev Disabil. 34(9):2764-73. doi: 10.1016/j.ridd.2013.05.024.

Lombardo M et al., 2007. Self-referential cognition and empathy in autism. PLoS One. 2(9):e883.

Lombardo MV et al., 2015. Different functional neural substrates for good and poor language outcome in autism. Neuron;86(2):567-77. doi: 10.1016/j.neuron.2015.03.023.

LoParo D, Waldman ID 2015. The oxytocin receptor gene (OXTR) is associated with autism spectrum disorder: a meta-analysis. Mol Psychiatry. 20(5):640-6. doi: 10.1038/mp.2014.77.

Lord, C et al.2006. Autism from 2 to 9 years of age. Archives of General Psychiatry 63(6):694-701.

Lowe JK et al., 2015. Social responsiveness, an autism endophenotype: genomewide significant linkage to two regions on chromosome 8. Am J Psychiatry. 172(3):266-75. doi: 10.1176/appi.ajp.2014.14050576.

Lu WH et al., 2013. Valproic acid attenuates microgliosis in injured spinal cord and purinergic P2X4 receptor expression in activated microglia. J Neurosci Res. 91(5):694-705. doi: 10.1002/jnr.23200.

Luyster RJ et al., 2008. Language assessment and development in toddlers with autism spectrum disorders. J Autism Dev Disord. 38(8):1426-38.

Mazurek MO , Kanne SM et al., 2010. Friendship and internalizing symptoms among children and adolescents with ASD. J Autism Dev Disord. 40(12):1512-20. doi: 10.1007/s10803-010-1014-y.

Mead J et al., 2015. Evidence supporting an altered immune response in ASD. Immunol Lett. 163(1):49-55. doi: 10.1016/j.imlet.2014.11.006.

Menge T et al.,2007. Acute disseminated encephalomyelitis:an acute hit against the brain. Curr Opin Neurol 20:247-54.

Mestre TA et al., 2013. 5-Hydroxytryptamine 2A receptor antagonists as potential treatment for psychiatric disorders. Expert Opin Investig Drugs. 22(4):411-21. doi: 10.1517/13543784.2013.769957.

Minami T et al., 2009. Expression of metallothionein mRNAs on mouse cerebellum microglia cells by Thimerosal and its metabolites. Toxicology 261:25-32.

Misra V et al., 2014. The social brain network and autism. Ann Neurosci. 2014 Apr;21(2):69-73. doi: 10.5214/ans.0972.7531.210208.

Modahl C, et al., 1998. Plasma oxytocin levels in autistic children. Biol Psychiatry. 43(4):270-277.

Molnar-Szakacs I and K Overy. 2006. Music and mirror neurons: from motion to ‘e’motion. Soc Cogn Affect Neurosci. 1(3):235-41. doi: 10.1093/scan/nsl029.

Morgan JT. 2014. Stereological study of amygdala glial populations in adolescents and adults with autism spectrum disorder. PLoS One. 9(10):e110356. doi: 10.1371/journal.pone.0110356.

Morgan JT et al., 2010. Microglial activation and increased microglial density observed in the dorsolateral prefrontal cortex in autism. Biol Psychiatry. 68:368-76. doi: 10.1016/j.biopsych.2010.05.024.

Morgan JT. 2012. Abnormal microglial-neuronal spatial organization in the dorsolateral prefrontal cortex in autism. Brain Res. 1456:72-81. doi: 10.1016/j.brainres.2012.03.036.

Muhle R et al. 2004. The genetics of autism. Pediatrics 113: e472-e486.

Murphy DG et al., 2006. Cortical serotonin 5-HT2A receptor binding and social communication in adults with Asperger’s syndrome: an in vivo SPECT study. Am J Psychiatry. 163(5):934-6.

Nadel J. 2015. Perception-action coupling and imitation in autism spectrum disorder. Dev Med Child Neurol. 57 Suppl 2:55-8. doi: 10.1111/dmcn.12689.

Nevison CD. 2014. A comparison of temporal trends in United States autism prevalence to trends in suspected environmental factors. Environ Health. 13:73. doi: 10.1186/1476-069X-13-73.

Newbury, DF et al., 2002. FOXP2 is not a major susceptibility gene for autism or specific language impairment. American Journal of Human Genetics, 70, 1318-1327.

Oerlemans AM et al., 2014. Recognition of facial emotion and affective prosody in children with ASD (+ADHD) and their unaffected siblings. European Child and Adolescent Psychiatry 23(5) 257-271.

Orgs G, et al., 2016. Constructing visual perception of body movement with the motor cortex. Cereb Cortex. 26:440-449.

O’Roak BJ et al., 2012a. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485:246-50.

O’Roak BJ et al., 2012b. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 338:1619-22.

Pardo CA et al., 2005. Immunity, neuroglia and neuroinflammation in autism. Int Rev Psychiatry. 17(6):485-95.

Park J et al., 2010. Evidence that genetic variation in the oxytocin receptor (OXTR) gene influences social cognition in ADHD. Prog Neuropsychopharmacol Biol Psychiatry. 34:697-702. doi: 10.1016/j.pnpbp.2010.03.029.

Park Y et al., 2014. Interaction between MAOA and FOXP2 in association with autism and verbal communication in a Korean population. J Child Neurol. 29(12):NP207-11. doi: 10.1177/0883073813511301.

Parker KJ et al., 2014. Plasma oxytocin concentrations and OXTR polymorphisms predict social impairments in children with and without autism spectrum disorder. Proc Natl Acad Sci U S A. 111(33):12258-63. doi: 10.1073/pnas.1402236111.

Parker, K. et al. 2015. Arginine vasopressin is a blood-based biomarker of social functioning in children with autism. PLOS ONE DOI: 10.1371/journal.pone.0132224

Paul R et al.,2005. Perception and production of prosody by speakers with autism spectrum disorders. J Autism Dev Disord. 35(2):205-20.

Pei F et al., 2014. Electrophysiological measures of low-level vision reveal spatial processing deficits and hemispheric asymmetry in autism spectrum disorder. J Vis. 2014 14(11). pii: 3. doi: 10.1167/14.11.3.

Pescosolido MF et al., 2014. Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein. J Med Genet. 51(9):587-9. doi: 10.1136/jmedgenet-2014-102444..

Preti A et al., 2014. Oxytocin and autism: a systematic review of randomized controlled trials. J Child Adolesc Psychopharmacol. 24(2):54-68. doi: 10.1089/cap.2013.0040.

Puglia MH et al., 2015. Epigenetic modification of the oxytocin receptor gene influences the perception of anger and fear in the human brain. Proc Natl Acad Sci U S A. 112(11):3308-13. doi: 10.1073/pnas.1422096112.

Redcay E et al., 2010. Live face-to-face interaction during fMRI: a new tool for social cognitive neuroscience. Neuroimage. 50(4):1639-47. doi: 10.1016/j.neuroimage.2010.01.052.

Ricceri L et al., 2011. Cholinergic hypofunction in MeCP2-308 mice: beneficial neurobehavioural effects of neonatal choline supplementation. Behav Brain Res. 221(2):623-9. doi: 10.1016/j.bbr.2011.03.051.

Roberts TP, et al., 2014. Left hemisphere diffusivity of the arcuate fasciculus: influences of autism spectrum disorder and language impairment. AJNR Am J Neuroradiol. 35(3):587-92. doi: 10.3174/ajnr.A3754.

Robertson C et al., 2015. GABA Measured in Visual Cortex using MRS Predicts Atypical Dynamics of Binocular Rivalry Associated with Autism. J Vis.;15(12):917. doi: 10.1167/15.12.917.

Robertson CE et al., 2016. Reduced GABAergic Action in the Autistic Brain. Curr Biol. 26(1):80-85. doi: 10.1016/j.cub.2015.11.019.

Romano J 2002. A single administration of the peptide NAP induces long-term protective changes against the consequences of head injury: gene Atlas array analysis. J Mol Neurosci. 18(1-2):37-45.

Romero-Martínez Á et al., 2015. Genetic and environmental contributions to the inverse association between specific autistic traits and experience seeking in adults. Am J Med Genet B Neuropsychiatr Genet. doi: 10.1002/ajmg.b.32352.

Rutter, M. 2000. Genetic studies of autism: from the 1970s into the millennium. J. Abnorm. Child Psychol. 28:3-14. doi: 10.1023/A:1005113900068

Sandin S et al., 2014. The familial risk of autism. JAMA. 311(17):1770-7. doi: 10.1001/jama.2014.4144.

Schafer DP. 2012. Microglia sculpt postnatal neural circuits in an activity and complement-dependent manner. Neuron. 74(4):691-705. doi: 10.1016/j.neuron.2012.03.026.

Schmidt RJ et al., 2014. Maternal intake of supplemental iron and risk of autism spectrum disorder. Am J Epidemiol. 180(9):890-900. doi: 10.1093/aje/kwu208.

Schmidt RJ, et al. 2011. Prenatal vitamins, one-carbon metabolism gene variants and risk for autism. Epidemiology. 22(4):476-85.

Schwarz, JM and SD Bilbo. 2015. The Immune System and the Developing Brain (Colloquium Series on the Developing Brain), Morgan & Claypool Life Sciences.

Schwichtenberg AJ, et al., 2010. Can family affectedness inform infant sibling outcomes of autism spectrum disorders? Journal of Child Psychology and Psychiatry 51(9) 1021-1030.

Scourfield J et al., 1999. Heritability of social cognitive skills in children and adolescents. Br J Psychiatry. 175:559-64.

Shaw CA and MS Petrik. 2009. Aluminum hydroxide injections lead to motor deficits and motor neuron degeneration. J Inorg Biochem. 103(11):1555-62. doi: 10.1016/j.jinorgbio.2009.05.019.

Shirley MD et al., 2016. Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior. PLoS One. 2016 Mar 2;11(3):e0149646. doi: 10.1371/journal.pone.0149646.

SIDER4, 2015. Listing of drugs with aphasia as a side effect. http://sideeffects.embl.de/se/C0003537/pt

Singer T, 2004. Empathy for pain involves the affective but not sensory components of pain. Science. 303(5661):1157-62.

Smith RM et al., 2014. Family-based clinical associations and functional characterization of the serotonin 2A receptor gene (HTR2A) in autism spectrum disorder. Autism Res. 2014 Aug;7(4):459-67. doi: 10.1002/aur.1383.

Spiteri E et al., 2007. Identification of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brain. Am J Hum Genet. 81:1144-1157.

St Pourcain B et al., 2013. Common variation contributes to the genetic architecture of social communication traits. Mol Autism. 4(1):34. doi: 10.1186/2040-2392-4-34.

Steffenburg S et al.,.1989. A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. J Child Psychol Psychiatry. 30(3):405-416.

Stevens B, 2007. The classical complement cascade mediates CNS synapse elimination. Cell 131(6):1164-78.

Stevenson RA, 2014. Evidence for diminished multisensory integration in autism spectrum disorders. J Autism Dev Disord. 44(12):3161-7. doi: 10.1007/s10803-014-2179-6.

Sullivan M et al., 2007. Response to joint attention in toddlers at risk for autism spectrum disorder: a prospective study. J Autism Dev Disord. 37:37-48.

Tabak BA et al., 2014. Variation in oxytocin receptor gene (OXTR) polymorphisms is associated with emotional and behavioral reactions to betrayal. Soc Cogn Affect Neurosci. 9(6):810-6. doi: 10.1093/scan/nst042.

Talbott MR et al., 2015. Maternal gesture use and language development in infant siblings of children with autism spectrum disorder. J Autism Dev Disord. 45(1):4-14. doi: 10.1007/s10803-013-1820-0.

Tannan V et al., 2008. Perceptual metrics of individuals with autism provide evidence for disinhibition. Autism Res. 1:223-30.

Tansey KE et al., 2010. Oxytocin receptor (OXTR) does not play a major role in the aetiology of autism: genetic and molecular studies. Neurosci Lett. 474(3):163-7. doi: 10.1016/j.neulet.2010.03.035.

Taylor MJ et al., 2014. Language and traits of autism spectrum conditions: evidence of limited phenotypic and etiological overlap. Am J Med Genet B Neuropsychiatr Genet. 165B(7):587-95. doi: 10.1002/ajmg.b.32262.

Tek S et al., 2014. Longitudinal analyses of expressive language development reveal two distinct language profiles among young children with autism spectrum disorders. J Autism Dev Disord. 44(1):75-89. doi: 10.1007/s10803-013-1853-4.

Thapar A and G. Harold. 2014. Editorial perspective: Why is there such a mismatch between traditional heritability estimates and molecular genetic findings for behavioural traits? J Child Psychol Psychiatry. 55(10):1088-91. doi: 10.1111/jcpp.12294.

Theoharides TC. 2015. Brain “fog,” inflammation and obesity: key aspects of neuropsychiatric disorders improved by luteolin. Front Neurosci. 9:225. doi: 10.3389/fnins.2015.00225.

Tidmarsh, L et al.,2003. Diagnosis and epidemiology of autism spectrum disorders. Canadian Journal of Psychiatry 48(8):517-25.

Toma C et al., 2013. Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2. Psychiatr Genet. 23(2):82-5. doi: 10.1097/YPG.0b013e32835d6fc6.

Tyler CM and LM Boulange. 2012. Complement-mediated microglial clearance of developing retinal ganglion cell axons. Neuron. 74(4):597-9. doi: 10.1016/j.neuron.2012.05.002.

Utine GE et al., 2014. Etiological yield of SNP microarrays in idiopathic intellectual disability. Eur J Paediatr Neurol. 18(3):327-37. doi: 10.1016/j.ejpn.2014.01.004.

Uzefovsky F et al., 2014. The dopamine D4 receptor gene shows a gender-sensitive association with cognitive empathy: evidence from two independent samples. Emotion. 14:712-21. doi: 10.1037/a0036555.

Vandeweyer G et al., 2014. The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):315-26. doi: 10.1002/ajmg.c.31413.

Vannucchi G et al., 2014. Bipolar disorder in adults with Asperger?s Syndrome: a systematic review. J Affect Disord. 168:151-60. doi: 10.1016/j.jad.2014.06.042.

Veenstra-VanderWeele J et al., 2002. Transmission disequilibrium studies of the serotonin 5-HT2A receptor gene (HTR2A) in autism. Am J Med Genet 114(3):277-83.

Veenstra-Vanderweele, J et al., 2003. Genetics of childhood disorders: XLVI. Autism, part 5: genetics of autism. J. Am. Acad. Child Adolesc. Psychiatry 42:116-118. doi: 10.1097/00004583-200301000-00018

Verly M et al. Altered functional connectivity of the language network in ASD: Role of classical language areas and cerebellum. Neuroimage Clin. 31;4:374-82. doi: 10.1016/j.nicl.2014.01.008.

Vernes SC et al.,2011. Foxp2 regulates gene networks implicated in neurite outgrowth in the developing brain. PLoS Genet 7:e1002145.

Vernes SC, et al. 2007. High-throughput analysis of promoter occupancy reveals direct neural targets of FOXP2, a gene mutated in speech and language disorders. Am J Hum Genet. 81:1232-1250.

Wahlstrom, J. 1986. Infantile autism and the fragile X: A Swedish multicenter study. Am. J. Med. Genet. 23: 403-408. doi: 10.1002/ajmg.1320230132

Wang HG et al.,2015. Genetic and developmental perspective of language abnormality in autism and schizophrenia: One disease occurring at different ages in humans? Neuroscientist Feb 16. pii: 1073858415572078.

Watkins CC et al., 2014. Glia and immune cell signaling in bipolar disorder: insights from neuropharmacology and molecular imaging to clinical application. Transl Psychiatry. 4:e350. doi: 10.1038/tp.2013.119.

Watkins KE et al., 2003. Seeing and hearing speech excites the motor system involved in speech production. Neuropsychologia. 41(8):989-94.

Wermter AK et al., 2010. Evidence for the involvement of genetic variation in the oxytocin receptor gene (OXTR) in the etiology of autistic disorders on high-functioning level. Am J Med Genet B Neuropsychiatr Genet. 153B(2):629-39. doi: 10.1002/ajmg.b.31032.

Wilson et al., 2013. Phonological processing in first-degree relatives of individuals with autism: An fMRI study. Hum Brain Mapp. 34(6): 1447-1463. doi:10.1002/hbm.22001.

Wong, VCN et al., 2012. Dravet Syndrome- Genetic Analysis of SCN1A and PCDH19 Mutations for 17 Chinese Children. IMFAR 2012. http://imfar.confex.com/imfar/2012/webprogram/Paper10671.html

World Health Organization. 2002. Manual of the International Statistical Classification of the Diseases and Related Health Problems (10th ed, vol.1). Geneva: WHO.

Wu S et al., 2005. Positive association of the oxytocin receptor gene (OXTR) with autism in the Chinese Han population. Biol Psychiatry. 58:74-7.

Yang SY, et al., 2010. Association study between single nucleotide polymorphisms in promoter region of AVPR1A and Korean autism spectrum disorders. Neurosci Lett. 479:197-200.

Yatawara CJ et al., 2015. The effect of oxytocin nasal spray on social interaction deficits observed in young children with autism: a randomized clinical crossover trial. Mol Psychiatry. doi: 10.1038/mp.2015.162.

Yirmiya, N. et al., 2006. Association between the arginine vasopressin 1a receptor (AVPR1a) gene and autism in a family-based study: Mediation by socialization skills. Molecular Psychiatry 11:488-494.

Ylisaukko-oja T et al., 2006. Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families. Ann Neurol. 59:145-55.

Yoshimura, T et al., 2005. GSK-3beta regulates phosphorylation of CRMP-2 and neuronal polarity. Cell 120:137-149.

causes2

Advertisement