Duplication of DNA on chromosome 7 increases risk of autism

Roughly one in five children who has an extra piece of chromosome 7 also meets the criteria for an autism diagnosis, according to a new study.

The study is the first rigorous look at autism features in children with a duplication of chromosomal region 7q11.23. The resulting syndrome, dubbed Dup7, can lead to intellectual disability, language problems and social anxiety. A deletion in the same region leads to Williams syndrome, a condition characterized by intellectual disability and extreme friendliness.

The researchers found that 12 of 63 children with Dup7 meet the criteria for autism, as measured by a combination of ‘gold-standard’ clinical assays and expert assessments. The results were published 6 January in the Journal of Autism and Developmental Disorders. The team has found a similar rate for children with Williams syndrome, according to unpublished data.

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1st February 2018