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With the incidence of autism spectrum disorder (ASD) markedly increasing, we urgently need to find ameliorative strategies. These will require better understanding of pathogenetic pathways. Researchers have begun to look for evidence of copy-number variations (CNVs; duplications or deletions in chromosomes) associated with clinical presentations of ASD. Two articles on this topic were recently published.
Marshall and colleagues studied 427 children with ASD, 44% of whom had CNVs; 413 had noninherited, idiopathic disease. The 27 de novo (noninherited) CNVs were found in 7% of children in simplex families (i.e., having only one child with ASD) and in 2% of children from multiplex families. Of the two separate control groups, these CNVs were fo…