They also assessed the children for five other conditions or traits: ADHD, anxiety, oppositional defiant disorder, intellectual disability and psychotic features. Van den Bree and her colleagues gave diagnostic tests for autism to 217 children aged 3 to 18 with 16p11.2 deletions and 114 children with duplications. “The data is really very impressive.” Same difference : “They tried here to have uniform assessments of all the kids,” he says. But the new study is more rigorous because it is based on direct diagnostic evaluations rather than medical records, he says. Louis, Missouri, who was not involved in the work. Overall, the results echo others linking the region to a variety of psychiatric conditions, says Marwan Shinawi, professor of pediatrics at Washington University in St. “But we found no difference in the rates of autism spectrum disorder.”ĭuplication carriers are also more likely than deletion carriers to have psychiatric features or diagnoses other than autism, particularly attention deficit hyperactivity disorder (ADHD), the new study found. “We were expecting that the deletion carriers might be more severely affected and the duplication carriers potentially less severely affected,” says lead investigator Marianne van den Bree, professor of psychological medicine at Cardiff University in Wales. Other studies have also suggested that deletion of the region has more severe effects than duplication does. A 2011 analysis of more than 3,600 people with autism suggests that deletion of the region, called 16p11.2, is more common among autistic people than the duplication is: occurring in 0.5 percent of them versus 0.28 2. The findings are at odds with previous work. The study is the first to carefully characterize psychiatric diagnoses in a large group of individuals who carry these mutations. All the same: Autism occurs in about one in four children with a deletion or duplication of chromosomal region 16p11.2.Īutism is just as common among children missing a segment of chromosome 16 as it is in those with an extra copy, according to a new study 1.
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