Interesting, but doesn't really help us families with two or more ASD kids.
Studies: New Clues to the Genetic Roots of Autism
Random changes in genes, rather than changes handed down from parents, may be responsible for some cases of autism, say scientists who report in three new papers a major breakthrough in understanding where those genetic changes may lie.
For the new studies, published in the journal Neuron, researchers focused on about 1,000 families in which only one child was affected with autism. Much of the past research on the genetic roots of autism has looked at families with at least two affected siblings; these families may represent cases in which inherited genetic mutations may play a more prominent role in the disorder, but researchers wanted to understand the genetic factors involved in children whose condition cannot be traced back to their parents. Most cases of autism involve children whose other family members remain unaffected.
Two groups of scientists, working independently, focused their attention on these families, and compared the genetic differences between autistic and non-autistic members within each. What they found was that children with autism were about four times more likely than their unaffected siblings to have copy number variants (CNVs), mutations in which a part of the genome is either duplicated or deleted. The CNVs in children with autism were also larger and contained a higher density of genes than the CNVs in unaffected siblings. These differences may account for anywhere from 5% to 10% of autism in families with only one autistic child, the researchers said.
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