Two new case studies highlight how complex rearrangements of chromosome 15 can lead to different disorders, including autism and the related Prader-Willi syndrome.

Researchers have uncovered a rare, genetic form of autism caused by mutations that speed up the breakdown of certain amino acids. The findings, published 6 September in Science, suggest that nutritional supplements may alleviate symptoms of the disorder in people with these mutations. 

Researchers have homed in on the brain region thought to be responsible for the autism-like symptoms that can accompany Dravet syndrome, a rare epilepsy disorder, according to research published Wednesday in Nature.

Individuals with either of two rare forms of epilepsy have duplications or deletions that encompass genes implicated in autism and language impairment, according to a study published 27 June in Epilepsia.

Studying tuberous sclerosis provides researchers with a unique opportunity to find a common pathway among the various genetic causes of autism, says neurologist Mustafa Sahin.

Researchers have found deletions and duplications of a small piece of chromosome 2 in individuals with autism, developmental delay, epilepsy or attention deficit hyperactivity disorder.

A new rat study shows that the precise timing of early valproate exposure, an autism risk factor, can have a big influence on behavior later in development.

Individuals with Cornelia de Lange syndrome, a rare genetic disorder often accompanied by autism, have subtle differences in the nature of their social deficits compared with those who have autism alone, according to a report published 10 April in the Journal of Child Psychology and Psychiatry.

Health records of more than 14,000 people with autism show that they are more likely than the general population to suffer from a number of conditions, including immune disorders and gut problems. The results, published 12 April in PLoS One, suggest that doctors should carefully monitor their overall health.  

MBD5, one of 20 genes located in the 2q23.1 chromosomal region, may be responsible for the autism-like syndrome caused by deletions in the region, according to a study published 7 October in the American Journal of Human Genetics.