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gene expression that can be influenced by exposure to environmental factors and that
may show parent of origin effects. Involvement of epigenetic factors in ASD is
demonstrated by the central role of epigenetic regulatory mechanisms in the
pathogenesis of Rett syndrome and fragile X syndrome, and single gene disorders
commonly associated with ASD (Hagerman, Ono, & Hagerman, 2005; Horike, Cai,
Miyano, Cheng, & Kohwi-Shigematsu, 2005; Samaco, Hogart, & LaSalle, 2005).
After a period of frustratingly slow progress, there has been a change in terms
of our genetic understanding of ASDs in the past few years, in particular the
identification of CNVs and what appear to be more and less familial forms of autism.
Whilst this field of inquiry holds promise for future studies; there are still challenges
to delineate the specific genetics of ASD, particularly at the level of the individual
child and family which may in future allow prenatal genetic counseling and informed
family planning.
Informing parents about test results and prevention/intervention
Primary prevention concerns identification and treatment of symptoms that are
early risk markers or prodromes for a disease in order to prevent it. The American
Academy of Pediatrics (2004) developed a specific brochure "Is Your One-Year-Old
Communicating With You?" to assist parents and professionals in identifying the very
early symptoms associated with ASD even before age 18 months. This short brochure
includes lists of social and communicative behaviors that infants should be displaying
by 12 months, between 12 to 24 months and at 24 months as well as a list of
behaviors of concern that may be associated with ASD, including items such as
“Doesn’t return a happy smile back to you; Doesn’t seem to notice if you are in the
room; Acts as if he is in his own world; Prefers to play alone; Seems to “tune others