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University
of Oxford researchers discovered
that a gene implicated in autism may also play a role in a common childhood
language disorder. Their study appears in Wednesday's online issue of the New England
Journal of Medicine.
Specific language impairment, as the disorder is known, affects
an estimated 2-7 percent of pre-school children, and is as common as dyslexia, University of Oxford geneticist and Wellcome Trust
researcher Simon Fisher, who led the study, said. The disorder consists of
unexplained difficulties in producing and understanding language, often
revolving around delayed vocabulary and grammar skills in healthy, intelligent
children.
Fisher and his colleagues reported that children from 184
families who had variants of the CNTNAP2 gene showed reduced language abilities
like those found in specific language impairment, such as repetition and
nonsense words.
“This is the first time anyone has pinpointed a specific
gene that is involved in common forms of language impairments,” Fisher said.
To identify variants of CNTNAP2 gene, the researchers looked
for genes that are switched on and off in the brain by a different gene called
FOXP2. Mutations of this gene also appear to play a role in rare cases of
severe speech and language disorder.
An earlier study had shown that the same gene (CNTNAP2)
hinders language ability in autistic children.
“Autistic children often have deficits in
nonsense-word repetition, a finding consistent with a role of CNTNAP2
in nonsense-word repetition. Perhaps CNTNAP2 will be implicated in
other clinical populations with disorders involving nonsense-word repetition,” Karin
Stromswold, M.D., Ph.D., of Rutgers University in New
Brunswick, N.J. said
in accompanying study. She added that the findings were a bold step forward in
the search for the genetic underpinnings of language impairment.
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