Researchers have defined a new syndrome that results from carrying two mutated copies of CNTNAP2, a gene linked to autism.

Combining two genetic tests with a physical exam may flag young children at risk for autism years earlier than behavioral assessments do.

A group of scientists is using fast, accurate and minimally invasive measurement systems to revive the once-tedious trade of dysmorphology, or the study of unusual facial features, in autism.

Each child with autism is different from the next. One approach rapidly gaining momentum makes sense of this diversity by grouping children together based on their genetics, then looking for patterns in their symptoms. The long-term aim: personalized treatments for each subtype of autism.

Hundreds of genes are linked to autism, but most have not been clearly characterized. ADNP is one of a small group of genes that, when mutated, seem to lead to autism in a substantial proportion of cases.
 

CHD8, a gene that regulates the structure of DNA, is the closest thing so far to an ‘autism gene,’ suggests a study published today in Cell. People with mutations in this gene all have the same cluster of symptoms, including autism.

A Swedish twin study plans to search for the shared genetic and environmental origins of autism and attention deficit hyperactivity disorder, which are often mistaken for each other.

Mutations in the autism-linked protein NHE6 may block the development of neuronal junctions by interfering with a growth factor called BDNF, according to a study published 2 October in Neuron.

Genes near the chromosomal region implicated in Williams syndrome are involved in epilepsy and autism-like behaviors, according to a study published 12 June in the European Journal of Human Genetics.

Duplication of a chromosomal region that includes the autism-linked gene MBD5 leads to intellectual disability, language impairment and autism-like symptoms, according to a study published 1 May in the European Journal of Human Genetics.