One of the genes on chromosome 16 has recently revealed itself to be a veritable hotbed of mutations, more than one of which may be linked to autism. Called CNTNAP2, this gene makes a protein that enables brain cells to communicate with each other via chemical signals, and it appears to play a role in brain cell development.

One of the mutations of the CNTNAP2 gene, which is most active in brain areas related to language, appears to be specifically linked to language delay in autistic children.

Whereas children normally utter their first word by the age of one, children with autism show late language onset, and can be speech-delayed by many months or even years, with some never speaking at all. Interestingly, evidence for this particular link came from the DNA of families with autistic boys, not those with autistic girls, a finding that may help to explain why autism strikes boys three times more often than girls, and perhaps why the 3:1 gender ratio also applies to rates of attention deficit disorders, learning disabilities and language disorders.

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First published in August 2008

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