Science & Society

A mysterious cluster of sudden deaths among young people who had a genetic syndrome is drawing attention to the high rate of unexplained deaths in individuals with autism and epilepsy.

Small duplications or deletions of DNA regions — called micro-copy number variations — may not lead directly to disease, but could raise the risk of autism when combined with other mutations, according to a study published in March in the American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.

Individuals with autism use more brainpower in regions linked to visual perception, and less in those related to planning thoughts and actions, compared with healthy controls, according to a multi-study analysis published today in Human Brain Mapping.

Genetic syndromes associated with autism are increasingly being diagnosed in utero because of techniques that can identify subtle mutations in the genome. But the technology is ahead of the ethical debate on whether and how to inform parents about mutations with unknown effects.

Two children with Asperger syndrome have disruptions in the PARK2 gene — one child has a duplication in the gene whereas the other has a deletion — according to a study published in February in the American Journal of Medical Genetics.