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Does autism begin at a diagnosis, or before a diagnosis? How early do genetics influence outcome? This podcast explores a new angle to this question using studies in sperm. One type of major ASD relevant mutation is de-novo mutations, meaning they are seen in the person with ASD but neither biological parent. So where do they come from? They may come from germ cells of the embryo of the parent, which forms the sperm and the egg. Researchers from UCSD looked at mutations in sperm vs. blood in fathers of those with de-novo mutations and found an enrichment of genetic mutations in sperm. This means the window of susceptibility can include not just things that happen at conception, but before conception. Below is a graphic taken from a commentary of this study in Nature by Eric Morrow which may be helpful.
