HealthDay News — Many carriers of copy number variants (CNVs) associated with autism meet clinical cutoffs for autistic traits, according to a study published online Jan. 1 in the American Journal of Psychiatry.

Samuel J.R.A. Chawner, Ph.D., from Cardiff University in the United Kingdom, and colleagues conducted an international study involving 547 individuals who were ascertained based on a genetic diagnosis of a rare CNV associated with a high risk for autism and 2,027 individuals with autism of heterogeneous etiology.

The researchers found that autism symptom severity, autism subdomain profile, and IQ profile differed for the four genetic variant groups. However, in individual genetic variant groups, substantial variability was observed in phenotypic outcome (74 to 97 percent of the variance), while variability between the groups was low (1 to 21 percent). A range of profile differences was identified upon comparison of CNV carriers who met autism criteria with individuals with heterogeneous autism. Fifty-four percent of individuals with one of the four CNVs who did not meet full autism diagnostic criteria had elevated levels of autistic traits when clinical cutoff scores were applied.


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“More than half of those with these genetic conditions had significant symptoms associated with it — such as social and communication difficulties or repetitive behaviors,” Chawner said in a statement. “There is a danger that being too prescriptive with how autism is diagnosed will result in these individuals slipping through the net and being denied important services.”

Several authors disclosed financial ties to the pharmaceutical industry.

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