Autism genetics

Silverman JM, Smith CJ, Schmeidler J, Hollander E, Lawlor BA, Fitzgerald M, Buxbaum JD, Delaney K, Galvin P (2002) Autism Genetic Research Exchange Consortium. Symptom domains in autism and related conditions evidence for familiarity. Am J Med Genet 114 64-73. 

Junaid, M. A., Kowal, D., Barua, M., Pullartkat, P. S., Brooks, S. S., and Pullartkat, R. K. (2004). Proteomic studies identified a sungle nucleotide polymorphism in glyoxalase 1 as autism susceptibility factor. Am.. Med. Genet. 131A, 11-17. 

Klauck, S.M., Poustka, F., Benner, A., Lesch, K.-P., and Poustka, A. (1997) Serotonin transporter (S-HTT) gene variants associated with autism Hum Mol Genet 6 2233-2238. 

Lord, C., Leventhal, B.L., and Cook, E.H. (2001). Quantifying the phenotype in autism spectrum disorders. Am J Med Genet (Neuropsychiatr Genet) 105 36-38. 

Maestrini, E., Lai, C., Marlow, A., Matthews, N., Wallace, S., Bailey, A., Cook, E., Weeks, D., Monaco, A., and International Molecular Genetics of Autism Consortium. (1999) Serotonin transporter (S-HTT) and gamma-aminobuyric acid receptor subunit beta-3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. Am J Med Genet (Neuropsychiatr Genet), 88 492-496. 

Yirmiya, N., Pilowsky, T., Nemanov, L., Arbelle, S., Feinsilver, T, Fried, I., Ebstein, R.P. (2001) Evidence for an association with the serotonin transporter promoter region polymorphism and autism. Am J Med Genet 105 381-386. 

Young, J.G., Level, L.I., Newcorn, J.H., and Knott, P.J. (1987) Genetic and neurobiological approaches to the pathophysiology of autism and the pervasive developmental disotdets. In Meltzer, H.Y, ed. Psychopharmacology The Third Generation of Progress. New York Raven Press, pp. 825-836. 

Szatmari P (1999) Heterogeneity and the genetics of autism. J Psychiatry Neurosci 24 159-165. 

A number of children with specific genetic, psychiatric and behavioral syndromes and conditions are susceptible to insomnia. For example, up to 70-80 % of children with autism and pervasive developmental disorder (PDD) [30-33] have sleep problems, including irregular sleep-wake cycles, delayed sleep onset, prolonged night wakings, short sleep duration, and early morning wake times. Sleep problems are... 

Yu CE, Dawson G, Munson J, D Souza I, Osterling J, Estes A, Leutenegger AL, Flodman P, Smith M, Raskind WH, Spence MA, McMahon W, Wijsman EM, Schellenberg GD. Presence of large deletions in kindreds with autism. Am J Hum Genet 2002 71(1) 100 115. 

Schirmbeck F, Georgi A, Strohmaier J, Schmael C, Boesshenz KV, et al. 2008. No association between premorbid adjustment in adult-onset schizophrenia and genetic variation in dysbindin. J Autism Dev Disord 38 (In press). 

Deth R, Muratore C, Benzecry J, Power-Charnitsky VA, Waly M. 2007. How environmental and genetic factors combine to cause autism A redox/methylation hypothesis. 

McCauley, J.L., Li, C., Jiang, L., Olson, L.M., Crockett, G., Gainer, K., Folstein, S.E., Haines, J.L., and Sutcliffe, J.S., 2005, Genome-wide and ordered-subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates. BMC. Med. Genet. 6 1-15. 

Cook EH, Leventhtil BL (1996) The serotonin system in autism. Curr Opin Pediatr 8 348-354 Cook EH Jr., Stein MA, Krasowski MD, Cox NJ, Olkon DM, Kieffer JE, Leventhal BL (1995) Association of attention-deficit disorder and the dopamine transporter gene. Am J Hum Genet 56 993-998... 

Fleckenstein AE, Volz TJ, Riddle EL, Gibb JW, Hanson GR (2007) New insights into the mechanism of action of amphetamines. Annu Rev Pharmacol Toxicol 47 681-698 Folstein SE, Rosen-Sheidley B (2001) Genetics of autism complex aetiology for a heterogeneous disorder. Nat Rev Genet 2 943-955... 

Two studies have demonstrated associations of polymorphisms of the RELN gene with autism (Persico et al., 2001 Zhang et al., 2002). However, four other studies have not found an association (Krebs et al., 2002 Bonora et al., 2003 Devlin et al., 2004 Li et al., 2004). Despite the lack of a clear genetic association between... 

Bailey A, PhUlips W, Rutter M (1996) Autism towards an integration of clinical, genetic, neuropsychological and neurobiological perspectives. J Child Psychol Psychiatry 37 89-126... 

Cross S, Kim SJ, Weiss LA, Delahanty RJ, Sutcliffe JS, Leventhal BL, Cook EH Jr, Veenstia-Vanderweele J (2008) Molecular genetics of the platelet serotonin system in first-degree relatives of patients with autism. Neuropsychopharmacology 33 353—360... 

Huang CH, Santangelo SL (2008) Autism and serotonin transporter gene polymorphisms a systematic review and meta-analysis. Am J Med Genet B Neuropsychiatr Genet 147B 903-913 Insel TR, O Brien DJ, Leckman IF (1999) Oxytocin, vasopressin, and autism is there a connection Biol. Psychiatry 45 145-157... 

A conference of the American Academy of Pediatrics on new challenges in childhood immunizations was convened in Oak Brook, IL, on 12-13 June 2000 and reviewed data on what is known about the pathogenesis, epidemiology, and genetics of autism and the available data on hypothesized associations with Crohn s disease, measles, and MMR vaccine. The participants concluded that the available evidence did not support the hypothesis that MMR vaccine causes either Crohn s disease or autism or associated disorders. They recommended continued scientific efforts directed to the identification of the causes of autism (69). 

Our inability to defend ourselves against new chemicals and mixtures often results in epidemics of disease. For example, asthma, autism, infertility, and many cancers affect different parts of the body and seemingly have different etiologies. All, however, can be related to a combination of genetic predisposition and environmental exposure to chemicals. All are less prevalent where chemical exposures are lower, for example, in rural areas. All have known single chemical exposure causes and they can all be related to low level exposure to chemical mixtures. The toxic effects of chemical mixtures are explored in the chapters that follow. 

It is often difficult to ascribe neurodevelopmental deficits to chemical exposure only. Genetic makeup predisposes some individuals to chemical insult effects. Autism and ADHD are two prominent examples of developmental conditions that fit such a hypothesis. Both affect large numbers of children and their prevalences can be linked to environmental chemical exposures. These are discussed in the following chapters. 

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